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
KLHL17	339451	broad.mit.edu	37	1	898538	898538	+	Silent	SNP	G	G	A	rs141603895	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:898538G>A	uc001aca.1	+	7	1199	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Missense_Mutation_p.R113H	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	364	Interaction with F-actin (By similarity).|Kelch 1.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTACGACACGCGCACCGACC	0.701												
AGRN	375790	broad.mit.edu	37	1	978991	978991	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:978991C>T	uc001ack.1	+	9	1727	c.1677C>T	c.(1675-1677)TGC>TGT	p.C559C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	559	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTCTGAATGCGTGGCTTTGG	0.687												
SDF4	51150	broad.mit.edu	37	1	1154242	1154242	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:1154242G>A	uc001adh.3	-	5	972	c.643C>T	c.(643-645)CTG>TTG	p.L215L	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.L215L|SDF4_uc009vjv.2_Silent_p.L93L|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	215	EF-hand 3.|3 (Potential).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCCGTCAGCAGCAGGTCTGCA	0.647												
ATAD3B	83858	broad.mit.edu	37	1	1421557	1421557	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:1421557T>C	uc001afv.2	+	10	1132	c.1031T>C	c.(1030-1032)CTG>CCG	p.L344P	ATAD3B_uc001afx.2_Missense_Mutation_p.L298P	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	344							ATP binding|nucleoside-triphosphatase activity				0	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		AACCGGGGCCTGTACAGGCAC	0.657												
WDR8	49856	broad.mit.edu	37	1	3564057	3564057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3564057G>A	uc001ako.2	-	2	245	c.137C>T	c.(136-138)ACG>ATG	p.T46M	WDR8_uc001akn.3_Missense_Mutation_p.T46M|WDR8_uc010nzi.1_Missense_Mutation_p.T46M	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	46	WD 1.					centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCTAGGCACGTGTACAGCTG	0.542												
LRRC47	57470	broad.mit.edu	37	1	3697778	3697778	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3697778C>A	uc001akx.1	-	7	1654	c.1626G>T	c.(1624-1626)AAG>AAT	p.K542N		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	542					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGGCCCGTCCTTTCCAGCAC	0.567												
KIAA0562	9731	broad.mit.edu	37	1	3768907	3768907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:3768907C>T	uc001aky.2	-	2	424	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.R22Q	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	22						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		CATGAGCTCCCGGGCACTGAA	0.592												
NPHP4	261734	broad.mit.edu	37	1	5925274	5925274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:5925274C>T	uc001alq.1	-	27	3970	c.3704G>A	c.(3703-3705)CGC>CAC	p.R1235H	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1235					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.R1235R(1)		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)		GACATCCACGCGCTGCAGGGA	0.632												
ACOT7	11332	broad.mit.edu	37	1	6341163	6341163	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:6341163A>G	uc001ams.2	-	8	1200	c.1043T>C	c.(1042-1044)GTG>GCG	p.V348A	ACOT7_uc010nzq.1_Missense_Mutation_p.V233A|ACOT7_uc001amt.2_Missense_Mutation_p.V338A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V297A|ACOT7_uc001amr.2_Missense_Mutation_p.V318A	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	348						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CGCACTCACCACCAGCTGGGG	0.652											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CAMTA1	23261	broad.mit.edu	37	1	7724391	7724391	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:7724391A>G	uc001aoi.2	+	9	1991	c.1784A>G	c.(1783-1785)TAC>TGC	p.Y595C		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACAAGGACTACACGTCCAGC	0.677												
SLC45A1	50651	broad.mit.edu	37	1	8384399	8384399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:8384399G>A	uc001apb.2	+	1	10	c.10G>A	c.(10-12)GCA>ACA	p.A4T		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	4					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GATGATCCCCGCAGCCAGCAG	0.662												
PIK3CD	5293	broad.mit.edu	37	1	9777080	9777080	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:9777080A>G	uc001aqb.3	+	7	1052	c.844A>G	c.(844-846)ATC>GTC	p.I282V	PIK3CD_uc010oaf.1_Missense_Mutation_p.I282V|PIK3CD_uc001aqe.3_Intron	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	282					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCTCCTCCATCCTCGCCAT	0.637												
CLSTN1	22883	broad.mit.edu	37	1	9795179	9795179	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:9795179A>G	uc001aqh.2	-	14	2696	c.1937T>C	c.(1936-1938)ATG>ACG	p.M646T	CLSTN1_uc001aqi.2_Missense_Mutation_p.M636T|CLSTN1_uc010oag.1_Missense_Mutation_p.M627T|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	646	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTAAAACCATCACGTAGCC	0.547												
UBE4B	10277	broad.mit.edu	37	1	10211616	10211616	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:10211616A>G	uc001aqs.3	+	21	3636	c.2923A>G	c.(2923-2925)ACA>GCA	p.T975A	UBE4B_uc001aqr.3_Missense_Mutation_p.T846A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.T430A|UBE4B_uc001aqt.1_Missense_Mutation_p.T315A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	975					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAGTTTTATACAGGTAGGTT	0.458												
KIF1B	23095	broad.mit.edu	37	1	10381811	10381811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:10381811C>T	uc001aqx.3	+	24	2456	c.2254C>T	c.(2254-2256)CGG>TGG	p.R752W	KIF1B_uc001aqw.3_Missense_Mutation_p.R706W|KIF1B_uc001aqy.2_Missense_Mutation_p.R726W|KIF1B_uc001aqz.2_Missense_Mutation_p.R752W|KIF1B_uc001ara.2_Missense_Mutation_p.R712W|KIF1B_uc001arb.2_Missense_Mutation_p.R738W	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	752					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGCCTTCCGGAAATGGAA	0.413												
MASP2	10747	broad.mit.edu	37	1	11105575	11105575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:11105575G>A	uc001aru.2	-	4	455	c.434C>T	c.(433-435)GCC>GTC	p.A145V	MASP2_uc001arv.2_Missense_Mutation_p.A145V|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.A145V	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	145	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CTCTCCCGGGGCCACCTGGCA	0.672												
C1orf187	374946	broad.mit.edu	37	1	11766661	11766661	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:11766661G>C	uc001asr.1	+	2	486	c.346G>C	c.(346-348)GCA>CCA	p.A116P		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	116					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CCTGGGACTGGCATTGCCCTA	0.652												
PRDM2	7799	broad.mit.edu	37	1	14108285	14108285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:14108285C>T	uc001avi.2	+	8	4851	c.3995C>T	c.(3994-3996)GCC>GTC	p.A1332V	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1332V|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A1131V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1332						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)		TTCACTACCGCCATTCGCTGC	0.473												
PRDM2	7799	broad.mit.edu	37	1	14108339	14108339	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:14108339A>G	uc001avi.2	+	8	4905	c.4049A>G	c.(4048-4050)AAA>AGA	p.K1350R	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.K1350R|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.K1149R|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1350	C2H2-type 7; atypical.					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)		GAGTTGCACAAACATATCCTG	0.448												
TMEM51	55092	broad.mit.edu	37	1	15541903	15541903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:15541903G>A	uc001avw.3	+	3	839	c.320G>A	c.(319-321)GGG>GAG	p.G107E	TMEM51_uc010obk.1_Missense_Mutation_p.G107E|TMEM51_uc001avz.2_Missense_Mutation_p.G107E|TMEM51_uc001avy.2_Missense_Mutation_p.G107E|TMEM51_uc001avx.2_Missense_Mutation_p.G107E	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	107						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		ACAGGCGCTGGGCCTCACGCC	0.622												
SPEN	23013	broad.mit.edu	37	1	16199578	16199578	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16199578T>C	uc001axk.1	+	2	555	c.351T>C	c.(349-351)GGT>GGC	p.G117G	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	117	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)		CTGCTTATGGTCCCCCACCGT	0.502												
SPEN	23013	broad.mit.edu	37	1	16255224	16255224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16255224C>T	uc001axk.1	+	11	2693	c.2489C>T	c.(2488-2490)TCC>TTC	p.S830F	SPEN_uc010obp.1_Missense_Mutation_p.S789F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	830					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)		AAGGTTCACTCCCCTAGTTCT	0.458												
EPHA2	1969	broad.mit.edu	37	1	16475193	16475193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16475193C>T	uc001aya.1	-	3	640	c.503G>A	c.(502-504)CGC>CAC	p.R168H	EPHA2_uc010oca.1_Missense_Mutation_p.R168H	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	168	Extracellular (Potential).				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)	CCCCACGGAGCGCTCCTCCAC	0.607												
NECAP2	55707	broad.mit.edu	37	1	16767271	16767271	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:16767271G>A	uc001ayo.2	+	1	105	c.15G>A	c.(13-15)GGG>GGA	p.G5G	NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Splice_Site_p.G5_splice|NECAP2_uc001ayq.2_Silent_p.G5G	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2 isoform 1	5					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane					0		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGAGCGGGTACGAGTCGG	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PADI2	11240	broad.mit.edu	37	1	17418998	17418998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:17418998C>T	uc001baf.2	-	6	642	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Missense_Mutation_p.R187Q	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GCCTTTGGTCCGCAGGATCAT	0.527												
AKR7A2	8574	broad.mit.edu	37	1	19632510	19632510	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:19632510A>G	uc001bbw.2	-	6	940	c.918_splice	c.e6+1	p.Q306_splice	AKR7A2_uc001bbx.2_Splice_Site_p.Q271_splice	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2						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)		GTCGCTGGTTACCTGCAGCTG	0.592												
MUL1	79594	broad.mit.edu	37	1	20827485	20827485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:20827485C>T	uc001bdi.3	-	4	914	c.757G>A	c.(757-759)GCC>ACC	p.A253T		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	253	Helical; (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AAGAGGGTGGCACATGTGGCA	0.597												
PINK1	65018	broad.mit.edu	37	1	20971106	20971106	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:20971106C>A	uc001bdm.2	+	4	994	c.900C>A	c.(898-900)CCC>CCA	p.P300P		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	300	Protein kinase.|Cytoplasmic (Potential).				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGTGCTGCCCTCACGCCTCC	0.632												
HSPG2	3339	broad.mit.edu	37	1	22158013	22158013	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:22158013C>A	uc001bfj.2	-	83	11435	c.11395G>T	c.(11395-11397)GGT>TGT	p.G3799C	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.G3800C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3799	Laminin G-like 1.				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)	GGATAGCCACCCAGGTAGAGT	0.637												
CDC42	998	broad.mit.edu	37	1	22417930	22417930	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:22417930A>G	uc001bfq.2	+	7	788	c.496A>G	c.(496-498)AAG>GAG	p.K166E	CDC42_uc001bfr.2_Missense_Mutation_p.K166E|CDC42_uc010odr.1_Missense_Mutation_p.K211E|CDC42_uc010ods.1_Missense_Mutation_p.K208E|CDC42_uc009vqh.2_Missense_Mutation_p.K125E	NM_001039802	NP_001034891	P60953	CDC42_HUMAN	cell division cycle 42 isoform 1	166					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			haematopoietic_and_lymphoid_tissue(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GAAAGGCCTAAAGAATGTATT	0.433												
EPHB2	2048	broad.mit.edu	37	1	23111412	23111412	+	Silent	SNP	G	G	A	rs149351655	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23111412G>A	uc009vqj.1	+	3	799	c.654G>A	c.(652-654)TCG>TCA	p.S218S	EPHB2_uc001bge.2_Silent_p.S218S|EPHB2_uc001bgf.2_Silent_p.S218S|EPHB2_uc010odu.1_Silent_p.S218S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	218	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAGCACATCGCTGGTGGCTG	0.627									Hereditary_Prostate_Cancer			
KDM1A	23028	broad.mit.edu	37	1	23376978	23376978	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23376978A>G	uc001bgi.2	+	3	765	c.616A>G	c.(616-618)ACC>GCC	p.T206A	KDM1A_uc001bgj.2_Missense_Mutation_p.T226A	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	206	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ACCACAACAGACCCAGAAGGT	0.363												
KDM1A	23028	broad.mit.edu	37	1	23399803	23399803	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:23399803A>G	uc001bgi.2	+	13	1718	c.1569A>G	c.(1567-1569)TCA>TCG	p.S523S	KDM1A_uc001bgj.2_Silent_p.S547S	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	523	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						ATCTCTCATCAAGAGACAGAC	0.383												
C1orf128	57095	broad.mit.edu	37	1	24113776	24113776	+	Silent	SNP	C	C	T	rs145680822	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24113776C>T	uc001bhq.2	+	6	676	c.546C>T	c.(544-546)CAC>CAT	p.H182H	C1orf128_uc010oeb.1_Silent_p.H89H	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN	chromosome 1 open reading frame 128	182	PITH.										0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TTCGCCGACACGAGGTGACCA	0.507												
MYOM3	127294	broad.mit.edu	37	1	24421461	24421461	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24421461G>A	uc001bin.3	-	9	973	c.810C>T	c.(808-810)AGC>AGT	p.S270S	MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Silent_p.S270S|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	270	Ig-like C2-type 2.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAATTCCACGCTGGGGCCAA	0.527												
GRHL3	57822	broad.mit.edu	37	1	24664485	24664485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24664485G>A	uc001biy.2	+	7	905	c.859G>A	c.(859-861)GTG>ATG	p.V287M	GRHL3_uc001bix.2_Missense_Mutation_p.V282M|GRHL3_uc001biz.2_Missense_Mutation_p.V189M	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	282					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTTGCAGAGTGTGGTGATGGT	0.572												
MAN1C1	57134	broad.mit.edu	37	1	26013011	26013011	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26013011C>T	uc001bkm.2	+	2	951	c.621C>T	c.(619-621)TAC>TAT	p.Y207Y	MAN1C1_uc009vry.1_Silent_p.Y27Y	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	207	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)		AAGATGGCTACGAGGGTAACA	0.473												
C1orf135	79000	broad.mit.edu	37	1	26164013	26164013	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26164013T>C	uc001bkw.1	-	2	111	c.111A>G	c.(109-111)CTA>CTG	p.L37L		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	37											0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGAGTGTTAGCATTTTGG	0.363												
ARID1A	8289	broad.mit.edu	37	1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27087503C>T	uc001bmv.1	+	5	2450	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R310*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
PIGV	55650	broad.mit.edu	37	1	27121133	27121133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27121133G>A	uc001bmz.2	+	3	939	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.R203H|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.R203H	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	203	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACTGGGGTACGCTCCAACGGG	0.527												
MAP3K6	9064	broad.mit.edu	37	1	27688286	27688286	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27688286C>T	uc001bny.1	-	10	1737	c.1488G>A	c.(1486-1488)GGG>GGA	p.G496G	MAP3K6_uc009vsw.1_Silent_p.G488G|MAP3K6_uc001bnz.1_Silent_p.G19G	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	496					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			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)		GGCGTGGTGGCCCTCCAGGGG	0.612												
GPR3	2827	broad.mit.edu	37	1	27721144	27721144	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27721144T>C	uc001bod.2	+	2	937	c.842T>C	c.(841-843)CTT>CCT	p.L281P		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	281	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TACACCTATCTTACCTTGCTC	0.572												
AHDC1	27245	broad.mit.edu	37	1	27875576	27875576	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27875576G>A	uc009vsy.2	-	6	4020	c.3051C>T	c.(3049-3051)AGC>AGT	p.S1017S	AHDC1_uc009vsz.1_Silent_p.S1017S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1017							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CATAGCCGGCGCTGTGGGCGC	0.662												
PTAFR	5724	broad.mit.edu	37	1	28477221	28477221	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:28477221A>G	uc001bpl.2	-	2	439	c.312T>C	c.(310-312)TCT>TCC	p.S104S	PTAFR_uc001bpm.3_Silent_p.S104S|PTAFR_uc009vte.2_Silent_p.S104S	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	104	Helical; Name=3; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGCCACAGAGCAGTAGG	0.527												
GMEB1	10691	broad.mit.edu	37	1	29016643	29016643	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29016643C>A	uc001bra.2	+	3	324	c.186C>A	c.(184-186)AAC>AAA	p.N62K	GMEB1_uc001bqz.2_Missense_Mutation_p.N52K|GMEB1_uc001brb.2_Missense_Mutation_p.N52K	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGAACAACACGGCAGTTG	0.323												
SFRS4	6429	broad.mit.edu	37	1	29475692	29475692	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29475692G>A	uc001bro.2	-	6	1088	c.715C>T	c.(715-717)CGG>TGG	p.R239W	SFRS4_uc010ofy.1_Missense_Mutation_p.S137L	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	239	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		ctccggctccgactctggctc	0.463												
PTPRU	10076	broad.mit.edu	37	1	29639170	29639170	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:29639170T>C	uc001bru.2	+	23	3319	c.3209T>C	c.(3208-3210)GTG>GCG	p.V1070A	PTPRU_uc001brv.2_Missense_Mutation_p.V1066A|PTPRU_uc001brw.2_Missense_Mutation_p.V1060A|PTPRU_uc009vtq.2_Missense_Mutation_p.V1066A|PTPRU_uc009vtr.2_Missense_Mutation_p.V1057A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1070	Tyrosine-protein phosphatase 1.|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)		ATCCGGCGCGTGAAGGCCTCC	0.647												
MATN1	4146	broad.mit.edu	37	1	31189044	31189044	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31189044C>T	uc001brz.2	-	5	953	c.919G>A	c.(919-921)GTG>ATG	p.V307M	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.V225M	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	307	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTCTGACACGTCCAGCGTA	0.562												
MATN1	4146	broad.mit.edu	37	1	31194406	31194406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31194406C>T	uc001brz.2	-	2	321	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	uc001bsb.1_RNA|MATN1_uc001bsa.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	96	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATGAGCCCGCAGCGAGAA	0.642												
SDC3	9672	broad.mit.edu	37	1	31349583	31349583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31349583G>A	uc001bse.2	-	3	733	c.686C>T	c.(685-687)GCG>GTG	p.A229V	SDC3_uc001bsd.2_Missense_Mutation_p.A171V	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	229	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		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)		CGGGGAGGGCGCCTCGGGGGT	0.672												
SNRNP40	9410	broad.mit.edu	37	1	31769597	31769597	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31769597A>G	uc001bso.2	-	1	48	c.2T>C	c.(1-3)ATG>ACG	p.M1T	SNRNP40_uc010oge.1_Missense_Mutation_p.M1T|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	1						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0						CTGTTCTATCATGGCGGCAAC	0.622												
ZCCHC17	51538	broad.mit.edu	37	1	31821730	31821730	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:31821730T>A	uc001bsp.1	+	7	609	c.473T>A	c.(472-474)ATA>AAA	p.I158K	ZCCHC17_uc001bsq.1_Missense_Mutation_p.I150K|ZCCHC17_uc010ogf.1_Missense_Mutation_p.I160K|ZCCHC17_uc009vtu.1_Missense_Mutation_p.I134K|ZCCHC17_uc001bsr.1_Missense_Mutation_p.I158K|ZCCHC17_uc009vtv.1_Missense_Mutation_p.I134K	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	158						nucleolus	RNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TACTCTCTGATACCTGATGAG	0.413												
HCRTR1	3061	broad.mit.edu	37	1	32087173	32087173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32087173C>T	uc009vtx.2	+	6	1103	c.718C>T	c.(718-720)CGC>TGC	p.R240C	HCRTR1_uc001btb.2_Missense_Mutation_p.R65C|HCRTR1_uc001btc.3_Missense_Mutation_p.R154C|HCRTR1_uc001btd.2_Missense_Mutation_p.R240C|HCRTR1_uc010ogl.1_Missense_Mutation_p.R240C	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	240	Cytoplasmic (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCAGATATTCCGCAAGCTCTG	0.587												
COL16A1	1307	broad.mit.edu	37	1	32131193	32131193	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32131193C>T	uc001btk.1	-	55	3848	c.3483G>A	c.(3481-3483)CCG>CCA	p.P1161P	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P959P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1161	Triple-helical region 2 (COL2) with 2 imperfections.			P -> T (in Ref. 1; AAA58427).	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)		CCGGTGGGCCCGGAAAGCCTG	0.627												
KHDRBS1	10657	broad.mit.edu	37	1	32502514	32502514	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:32502514A>G	uc001bub.2	+	5	881	c.775A>G	c.(775-777)ATG>GTG	p.M259V	KHDRBS1_uc001bua.1_Missense_Mutation_p.M220V|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	259					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTCCCAGGATATGATGGATGA	0.478												
ZBTB8A	653121	broad.mit.edu	37	1	33060697	33060697	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33060697A>C	uc001bvn.2	+	4	1351	c.866A>C	c.(865-867)CAT>CCT	p.H289P	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.H289P	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	289	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACTGCACACATGTGGTGAAG	0.453												
TMEM54	113452	broad.mit.edu	37	1	33363782	33363782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33363782G>A	uc001bwi.1	-	2	269	c.155C>T	c.(154-156)GCG>GTG	p.A52V	TMEM54_uc001bwj.1_Missense_Mutation_p.A52V|TMEM54_uc001bwk.1_Missense_Mutation_p.A52V	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	transmembrane protein 54	52						integral to membrane					0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGAGCCACCGCATCTTGAGG	0.622												
TRIM62	55223	broad.mit.edu	37	1	33612784	33612784	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33612784G>A	uc001bxb.2	-	5	2060	c.1422C>T	c.(1420-1422)CGC>CGT	p.R474R		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	474	B30.2/SPRY.			R -> L (in Ref. 1; BAA91792).		intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGGACTAGATGCGGACGGTGT	0.463												
PHC2	1912	broad.mit.edu	37	1	33836082	33836082	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:33836082G>A	uc001bxg.1	-	4	570	c.516C>T	c.(514-516)GGC>GGT	p.G172G	PHC2_uc001bxh.1_Silent_p.G172G|PHC2_uc009vuh.1_Silent_p.G172G|PHC2_uc001bxi.1_Silent_p.G172G	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	172					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGACGTGTTGCCCAAGAGCA	0.627												
HMGB4	127540	broad.mit.edu	37	1	34329879	34329879	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:34329879G>A	uc001bxp.2	+	2	1830	c.87G>A	c.(85-87)GAG>GAA	p.E29E	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN	HMG2 like isoform 1	29						nucleus	DNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATTCAAGGAGCAGCAGCCAA	0.393												
CSMD2	114784	broad.mit.edu	37	1	34401359	34401359	+	Splice_Site	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:34401359A>T	uc001bxn.1	-	4	621	c.592_splice	c.e4+1	p.A198_splice	CSMD2_uc001bxm.1_Splice_Site_p.A238_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCCACCTACCTCTGCAGG	0.627												
GJA4	2701	broad.mit.edu	37	1	35260745	35260745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35260745C>T	uc001bya.2	+	2	1019	c.931C>T	c.(931-933)CCA>TCA	p.P311S	GJA4_uc009vul.2_Missense_Mutation_p.P387S|GJA4_uc009vum.1_Missense_Mutation_p.P311S	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	311	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTTCCTGGACCCACCCCCTCA	0.572												
KIAA0319L	79932	broad.mit.edu	37	1	35916003	35916003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35916003C>T	uc001byx.2	-	14	2428	c.2170G>A	c.(2170-2172)GTC>ATC	p.V724I	KIAA0319L_uc001byw.2_Missense_Mutation_p.V166I|KIAA0319L_uc010ohv.1_Missense_Mutation_p.V366I	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	724	PKD 5.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTAGCTGACTATTCCCTTG	0.557												
EIF2C1	26523	broad.mit.edu	37	1	36379873	36379873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36379873G>A	uc001bzl.2	+	14	2044	c.1831G>A	c.(1831-1833)GCA>ACA	p.A611T	EIF2C1_uc001bzk.2_Missense_Mutation_p.A536T|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	611	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTATCACAGCAGTGAGTGA	0.502												
EIF2C1	26523	broad.mit.edu	37	1	36383300	36383300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36383300G>A	uc001bzl.2	+	16	2348	c.2135G>A	c.(2134-2136)CGC>CAC	p.R712H	EIF2C1_uc001bzk.2_Missense_Mutation_p.R637H|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	712	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCACACCCGCCTTTTCTGT	0.507												
COL8A2	1296	broad.mit.edu	37	1	36564002	36564002	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36564002C>T	uc001bzv.1	-	2	1287	c.1280G>A	c.(1279-1281)GGT>GAT	p.G427D	COL8A2_uc001bzw.1_Missense_Mutation_p.G362D	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	427	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCCGGCTCACCCTTGGGCCC	0.697												
C1orf113	79729	broad.mit.edu	37	1	36786335	36786335	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36786335A>T	uc010oia.1	+	14	2099	c.2071A>T	c.(2071-2073)ACG>TCG	p.T691S	C1orf113_uc010oib.1_Missense_Mutation_p.T580S|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.T337S	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	575	Potential.										0		Myeloproliferative disorder(586;0.0393)				AGTTGATGTAACGTCGCTGAG	0.602												
CSF3R	1441	broad.mit.edu	37	1	36935310	36935310	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:36935310T>C	uc001caw.1	-	11	1595	c.1417A>G	c.(1417-1419)AGC>GGC	p.S473G	CSF3R_uc001cat.1_Missense_Mutation_p.S36G|CSF3R_uc009vvc.1_Missense_Mutation_p.S36G|CSF3R_uc001cau.1_Translation_Start_Site|CSF3R_uc001cav.1_Missense_Mutation_p.S473G|CSF3R_uc001cax.1_Missense_Mutation_p.S473G|CSF3R_uc001cay.1_Missense_Mutation_p.S473G	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	473	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCTTGTTGCTATTGCTCGCG	0.632												
SNIP1	79753	broad.mit.edu	37	1	38006327	38006327	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38006327C>T	uc001cbi.2	-	3	430	c.357G>A	c.(355-357)CGG>CGA	p.R119R	SNIP1_uc010oid.1_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	119	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				GCCGATCCTCCCGTCCTCTCC	0.507												
DNALI1	7802	broad.mit.edu	37	1	38027281	38027281	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38027281T>C	uc001cbj.2	+	4	597	c.587T>C	c.(586-588)TTT>TCT	p.F196S	DNALI1_uc010oie.1_RNA	NM_003462	NP_003453	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	174					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCGTGGCGTTTGGCATGAGG	0.587											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EPHA10	284656	broad.mit.edu	37	1	38185714	38185714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38185714G>A	uc009vvi.2	-	14	2515	c.2429C>T	c.(2428-2430)GCG>GTG	p.A810V	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	810	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCATAGCGCTGGGCTCCG	0.632												
SF3A3	10946	broad.mit.edu	37	1	38453481	38453481	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:38453481T>C	uc001cci.2	-	3	296	c.172A>G	c.(172-174)AGG>GGG	p.R58G	SF3A3_uc010oik.1_Intron	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	58					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACAAATCCCTCAGGTTCCCA	0.438												
MACF1	23499	broad.mit.edu	37	1	39549962	39549962	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39549962A>T	uc010oir.1	+	2	222	c.59A>T	c.(58-60)GAT>GTT	p.D20V	MACF1_uc010ois.1_Silent_p.R24R			Q9UPN3	MACF1_HUMAN	Homo sapiens mRNA for actin binding protein ABP620, complete cds.	Error:Variant_position_missing_in_Q9UPN3_after_alignment					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGTGAGCGATCTTACAGGA	0.627												
MACF1	23499	broad.mit.edu	37	1	39750009	39750009	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39750009T>C	uc010ois.1	+	12	1260	c.1055T>C	c.(1054-1056)CTT>CCT	p.L352P	MACF1_uc001cda.1_Missense_Mutation_p.L260P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	352					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTATAGGCACTTTATAACCAA	0.343												
MACF1	23499	broad.mit.edu	37	1	39853184	39853184	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:39853184A>C	uc010oiu.1	+	22	10121	c.9990A>C	c.(9988-9990)AAA>AAC	p.K3330N	MACF1_uc010ois.1_Missense_Mutation_p.K2828N|MACF1_uc001cda.1_Missense_Mutation_p.K2715N|MACF1_uc001cdc.1_Missense_Mutation_p.K1894N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4895	Spectrin 4.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTAGTAAAAAAACTGCAGACA	0.423												
HPCAL4	51440	broad.mit.edu	37	1	40149793	40149793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40149793G>A	uc001cdr.2	-	3	314	c.194C>T	c.(193-195)GCG>GTG	p.A65V	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	65	EF-hand 2.				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)			AGCGTGCTGCGCGAACTTGGA	0.682												
PPT1	5538	broad.mit.edu	37	1	40546147	40546147	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40546147G>A	uc001cfb.2	-	6	781	c.549C>T	c.(547-549)GCC>GCT	p.A183A	PPT1_uc010ojf.1_Silent_p.A133A|PPT1_uc010ojg.1_Silent_p.A80A|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	183					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAGTATTCGGCTTGCACGA	0.512												
DEM1	64789	broad.mit.edu	37	1	40981063	40981063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:40981063G>A	uc001cfp.2	+	3	1052	c.847G>A	c.(847-849)GAC>AAC	p.D283N	DEM1_uc001cfq.2_Missense_Mutation_p.D283N|DEM1_uc001cfr.2_Missense_Mutation_p.D283N|DEM1_uc001cfs.2_Missense_Mutation_p.D283N	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	283							DNA binding|exonuclease activity				0						AACACTGTCAGACCTCCCAGT	0.493												
SLC2A1	6513	broad.mit.edu	37	1	43393358	43393358	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43393358G>T	uc001cik.2	-	9	1721	c.1196C>A	c.(1195-1197)CCA>CAA	p.P399Q		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	399	Cytoplasmic (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	AGCTGGACGTGGACCCTGGCT	0.547												
WDR65	149465	broad.mit.edu	37	1	43647224	43647224	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43647224C>T	uc001cip.1	+	3	298	c.177C>T	c.(175-177)GGC>GGT	p.G59G	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.G48G|WDR65_uc001ciq.1_Silent_p.G59G	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	59										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGTCAGGGCATGTTGGCCT	0.493												
KIAA0467	23334	broad.mit.edu	37	1	43906258	43906258	+	Splice_Site	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:43906258G>A	uc001cjk.1	+	37	5109	c.4647_splice	c.e37+1	p.L1549_splice		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334							peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATATGCTGGTAATGGAAGA	0.617												
PTPRF	5792	broad.mit.edu	37	1	44054460	44054460	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:44054460C>T	uc001cjr.2	+	8	1078	c.738C>T	c.(736-738)GGC>GGT	p.G246G	PTPRF_uc001cjs.2_Silent_p.G246G|PTPRF_uc001cju.2_5'Flank|PTPRF_uc009vwt.2_5'Flank|PTPRF_uc001cjv.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	246	Extracellular (Potential).|Ig-like C2-type 3.				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)				TGATGCCAGGCGGCAGCGTGA	0.652												
RPS8	6202	broad.mit.edu	37	1	45244276	45244276	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45244276T>C	uc001cmi.2	+	6	569	c.546T>C	c.(544-546)TGT>TGC	p.C182C		NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	182					endocrine pancreas development|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	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGGGACAGTGTGGCCGAGCAG	0.507												
PLK3	1263	broad.mit.edu	37	1	45271337	45271337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45271337G>A	uc001cmn.2	+	15	2028	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	643						membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTCCGGGACCGCAGCCCAGCC	0.652												
EIF2B3	8891	broad.mit.edu	37	1	45345614	45345614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45345614G>A	uc001cmt.1	-	8	978	c.851C>T	c.(850-852)GCC>GTC	p.A284V	EIF2B3_uc001cmu.1_Missense_Mutation_p.A284V|EIF2B3_uc001cmv.1_Missense_Mutation_p.A284V|EIF2B3_uc001cmw.2_Missense_Mutation_p.A284V	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	284					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCTCGACAGGCATTCCAGCA	0.483												
HECTD3	79654	broad.mit.edu	37	1	45472378	45472378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45472378G>A	uc009vxk.2	-	13	1809	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R181C|HECTD3_uc010olh.1_Missense_Mutation_p.R287C	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	571	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					TTGGCTGTGCGTACAAAGAAG	0.572												
ZSWIM5	57643	broad.mit.edu	37	1	45484973	45484973	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45484973A>G	uc001cnd.2	-	14	2939	c.2711T>C	c.(2710-2712)GTG>GCG	p.V904A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	904							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAAGATGCTCACCAGGGCCCG	0.567											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZSWIM5	57643	broad.mit.edu	37	1	45506099	45506099	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45506099T>C	uc001cnd.2	-	7	1949	c.1721A>G	c.(1720-1722)CAG>CGG	p.Q574R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	574							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGTTGCCGCTGCTGCTGCAA	0.502												
TOE1	114034	broad.mit.edu	37	1	45808127	45808127	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:45808127G>A	uc009vxq.2	+	6	1147	c.564G>A	c.(562-564)GTG>GTA	p.V188V	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Silent_p.V108V|TOE1_uc010oln.1_Silent_p.V194V|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	188						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCCCTGGTGCTACACAATG	0.537												
MAST2	23139	broad.mit.edu	37	1	46489481	46489481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:46489481C>T	uc001cov.2	+	15	1892	c.1609C>T	c.(1609-1611)CGC>TGC	p.R537C	MAST2_uc001cow.2_Missense_Mutation_p.R537C|MAST2_uc001coy.1_Missense_Mutation_p.R211C|MAST2_uc001coz.1_Missense_Mutation_p.R422C|MAST2_uc009vya.2_Missense_Mutation_p.R459C|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	537	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.R537H(1)		ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CACCCGGCAGCGCTTTGCCAT	0.572												
FAAH	2166	broad.mit.edu	37	1	46874214	46874214	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:46874214C>T	uc001cpu.2	+	8	1117	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	345	Cytoplasmic (By similarity).		A -> D (in a breast cancer sample; somatic mutation).		fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.A345D(1)		ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGAGGCGGGCCGTGCTGGAGA	0.607												
KIAA0494	9813	broad.mit.edu	37	1	47155282	47155282	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:47155282T>C	uc001cqk.3	-	6	1749	c.772A>G	c.(772-774)ACC>GCC	p.T258A	KIAA0494_uc010omh.1_Missense_Mutation_p.T258A|KIAA0494_uc010omj.1_Missense_Mutation_p.T114A|KIAA0494_uc001cql.1_Missense_Mutation_p.T258A	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	258							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TCACTGTGGGTTTTATTGTCA	0.448												
SLC5A9	200010	broad.mit.edu	37	1	48701407	48701407	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:48701407G>A	uc001cro.2	+	10	1200	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R408Q|SLC5A9_uc010omt.1_Missense_Mutation_p.R397Q|SLC5A9_uc001crp.2_Missense_Mutation_p.R50Q|SLC5A9_uc010omu.1_Missense_Mutation_p.R50Q	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	383	Extracellular (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CCAGGTCTGCGGGGGCTGATG	0.582												
FAF1	11124	broad.mit.edu	37	1	51425455	51425455	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:51425455A>C	uc009vyx.1	-	2	92	c.29T>G	c.(28-30)ATC>AGC	p.I10S	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.I10S	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	10					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(3)		ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		ATCCGCCAGGATCATCTCCCG	0.627												
RAB3B	5865	broad.mit.edu	37	1	52403029	52403029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:52403029G>A	uc001cth.2	-	3	409	c.284C>T	c.(283-285)GCC>GTC	p.A95V		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	95					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GAAGCCCATGGCCCCACGGTA	0.433												
PRPF38A	84950	broad.mit.edu	37	1	52870494	52870494	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:52870494A>G	uc001ctv.3	+	1	276	c.73A>G	c.(73-75)ATT>GTT	p.I25V	ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_5'UTR	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	25					mRNA processing|RNA splicing	spliceosomal complex					0						GGAGAAGATCATTCGAACGCG	0.507											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACOT11	26027	broad.mit.edu	37	1	55067074	55067074	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55067074G>A	uc001cxm.1	+	9	1099	c.1017G>A	c.(1015-1017)CGG>CGA	p.R339R	ACOT11_uc001cxj.1_Silent_p.R217R|ACOT11_uc001cxl.1_Silent_p.R339R	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	339					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CCTGGATTCGGCCCCAGCCCG	0.667												
FAM151A	338094	broad.mit.edu	37	1	55075118	55075118	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55075118C>T	uc001cxn.2	-	8	1713	c.1581G>A	c.(1579-1581)AGG>AGA	p.R527R	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	527						integral to membrane					0						ATGCCAGCAGCCTGCCTATGG	0.627												
C1orf175	374977	broad.mit.edu	37	1	55118738	55118738	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55118738T>C	uc010ooe.1	+	3	463	c.139T>C	c.(139-141)TTG>CTG	p.L47L	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.L47L|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L47L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	47						integral to membrane	binding				0						GGTGCCTATGTTGAATCTGCT	0.567												
TTC4	7268	broad.mit.edu	37	1	55182282	55182282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55182282A>G	uc001cxx.3	+	2	174	c.121A>G	c.(121-123)AAG>GAG	p.K41E	C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.K41E|TTC4_uc001cxv.2_Missense_Mutation_p.K52E	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	41							binding				0						GGAATTTGAAAAGGTCCCCCT	0.393												
PRKAA2	5563	broad.mit.edu	37	1	57169936	57169936	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:57169936C>A	uc001cyk.3	+	7	1152	c.1081C>A	c.(1081-1083)CCA>ACA	p.P361T		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	361					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						GCATATTCCCCCAGGCCTGAA	0.473												
MYSM1	114803	broad.mit.edu	37	1	59139300	59139300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:59139300C>T	uc009wab.1	-	11	1540	c.1517G>A	c.(1516-1518)CGA>CAA	p.R506Q	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	506					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)					CCATGGGTCTCGGACCCTACG	0.398												
HOOK1	51361	broad.mit.edu	37	1	60309201	60309201	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:60309201A>G	uc009wad.2	+	10	821	c.719A>G	c.(718-720)AAC>AGC	p.N240S	HOOK1_uc001czo.2_Missense_Mutation_p.N240S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.N198S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	240	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					GATGATCCAAACACAGTGGTT	0.333												
HOOK1	51361	broad.mit.edu	37	1	60331559	60331559	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:60331559A>G	uc009wad.2	+	20	1862	c.1760A>G	c.(1759-1761)GAA>GGA	p.E587G	HOOK1_uc001czo.2_Missense_Mutation_p.E587G|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E545G	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	587	Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					AAGATCAATGAACTTGAAGCT	0.279												
INADL	10207	broad.mit.edu	37	1	62228824	62228824	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62228824G>A	uc001dab.2	+	3	276	c.162G>A	c.(160-162)CAG>CAA	p.Q54Q	INADL_uc009waf.1_Silent_p.Q54Q|INADL_uc001daa.2_Silent_p.Q54Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	54	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TCACACTTCAGCAGTCCATCA	0.363												
KANK4	163782	broad.mit.edu	37	1	62728927	62728927	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62728927C>T	uc001dah.3	-	7	2753	c.2376G>A	c.(2374-2376)TCG>TCA	p.S792S	KANK4_uc001dai.3_Silent_p.S164S|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.S148S	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	792								p.S792L(1)		ovary(3)|skin(2)|lung(1)	6						CGGGGCTAGACGACTTCCGGC	0.572												
DOCK7	85440	broad.mit.edu	37	1	62979473	62979473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:62979473G>A	uc001daq.2	-	32	4067	c.4033C>T	c.(4033-4035)CAG>TAG	p.Q1345*	DOCK7_uc001dan.2_Nonsense_Mutation_p.Q1206*|DOCK7_uc001dao.2_Nonsense_Mutation_p.Q1206*|DOCK7_uc001dap.2_Nonsense_Mutation_p.Q1314*|DOCK7_uc001dam.2_Nonsense_Mutation_p.Q525*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1345					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AACCACTTCTGTAGAACTGTT	0.413												
LEPR	3953	broad.mit.edu	37	1	66081718	66081718	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:66081718A>T	uc001dci.2	+	15	2225	c.2023A>T	c.(2023-2025)AGT>TGT	p.S675C	LEPR_uc001dcg.2_Missense_Mutation_p.S675C|LEPR_uc001dch.2_Missense_Mutation_p.S675C|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.S675C|LEPR_uc001dck.2_Missense_Mutation_p.S675C	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	675	Extracellular (Potential).|Fibronectin type-III 3.		S -> T.		energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CTCATTGTGCAGTGTTCAGAG	0.388												
MIER1	57708	broad.mit.edu	37	1	67437384	67437384	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67437384T>C	uc001dde.2	+	10	1105	c.971T>C	c.(970-972)TTG>TCG	p.L324S	MIER1_uc010opf.1_Missense_Mutation_p.L288S|MIER1_uc009way.2_Missense_Mutation_p.L288S|MIER1_uc001ddc.2_Missense_Mutation_p.L324S|MIER1_uc001ddh.2_Missense_Mutation_p.L208S|MIER1_uc001ddf.2_Missense_Mutation_p.L288S|MIER1_uc001ddg.2_Missense_Mutation_p.L244S|MIER1_uc010opg.1_Missense_Mutation_p.L288S|MIER1_uc001ddj.1_Missense_Mutation_p.L271S|MIER1_uc001ddi.2_Missense_Mutation_p.L271S	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	295	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						GAAGAAGCATTGAGAAGATTA	0.274												
IL23R	149233	broad.mit.edu	37	1	67635241	67635241	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67635241A>G	uc001ddo.2	+	3	372	c.287A>G	c.(286-288)CAT>CGT	p.H96R	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.H53R|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	96	Extracellular (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						CTGGAACCACATGCTTCTATG	0.348												
IL12RB2	3595	broad.mit.edu	37	1	67861635	67861635	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:67861635T>A	uc001ddu.2	+	16	3092	c.2452T>A	c.(2452-2454)TCT>ACT	p.S818T	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S732T|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	818	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TCTCGCTGACTCTCTGGAAGA	0.547												
WLS	79971	broad.mit.edu	37	1	68564361	68564361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:68564361G>A	uc001dee.2	-	12	1857	c.1586C>T	c.(1585-1587)GCT>GTT	p.A529V	uc001deb.1_RNA|uc001dec.1_RNA	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 2	Error:Variant_position_missing_in_Q5T9L3_after_alignment					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						atatttcgaagcgctgaacaa	0												
FPGT	8790	broad.mit.edu	37	1	74671452	74671452	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:74671452A>G	uc001dgb.1	+	4	1758	c.1721A>G	c.(1720-1722)GAA>GGA	p.E574G	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.E199G|FPGT_uc010oqu.1_Missense_Mutation_p.E320G|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	574					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						AAAGATGTAGAAGATATGATA	0.313												
C1orf173	127254	broad.mit.edu	37	1	75038657	75038657	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:75038657A>C	uc001dgg.2	-	14	2956	c.2737T>G	c.(2737-2739)TTG>GTG	p.L913V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	913	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGATGCTCCAAGTTCAGGGCT	0.542												
ZZZ3	26009	broad.mit.edu	37	1	78050227	78050227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:78050227C>T	uc001dhq.2	-	6	2095	c.1619G>A	c.(1618-1620)GGA>GAA	p.G540E	ZZZ3_uc001dhr.2_Missense_Mutation_p.G46E|ZZZ3_uc009wbz.1_3'UTR|ZZZ3_uc001dhp.2_Missense_Mutation_p.G540E	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						TTCCACAAATCCAATGGGATT	0.383												
ZZZ3	26009	broad.mit.edu	37	1	78097960	78097960	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:78097960A>G	uc001dhq.2	-	5	1556	c.1080T>C	c.(1078-1080)TGT>TGC	p.C360C	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.C360C|ZZZ3_uc001dhp.2_Silent_p.C360C	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5						GAGCTGAAACACAGTCTAGAA	0.463												
WDR63	126820	broad.mit.edu	37	1	85563328	85563328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:85563328C>T	uc001dkt.2	+	12	1531	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V	WDR63_uc009wcl.2_Missense_Mutation_p.A408V	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	447										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGTAAAAGAGCCACACTGAAG	0.343												
COL24A1	255631	broad.mit.edu	37	1	86591704	86591704	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:86591704C>T	uc001dlj.2	-	3	357	c.315G>A	c.(313-315)CCG>CCA	p.P105P	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P105P	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	105	TSP N-terminal.				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)		ATATTGTAAACGGCTGCCCCA	0.373												
CLCA1	1179	broad.mit.edu	37	1	86947904	86947904	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:86947904A>G	uc001dlt.2	+	5	703	c.574A>G	c.(574-576)ACT>GCT	p.T192A	CLCA1_uc001dls.1_Missense_Mutation_p.T131A	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	192					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AGCAGGTATTACTGGTACAAA	0.393												
GBP1	2633	broad.mit.edu	37	1	89519089	89519089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:89519089T>C	uc001dmx.2	-	11	1948	c.1728A>G	c.(1726-1728)ATA>ATG	p.I576M		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	576					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGAGATCCTGTATCTCATTTT	0.403												
GBP2	2634	broad.mit.edu	37	1	89582734	89582734	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:89582734T>C	uc001dmz.1	-	6	1080	c.809A>G	c.(808-810)TAC>TGC	p.Y270C	GBP2_uc001dmy.1_RNA	NM_004120	NP_004111	P32456	GBP2_HUMAN	guanylate binding protein 2,	270					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCTGAGGATGTAGGAACAAAA	0.483												
LRRC8B	23507	broad.mit.edu	37	1	90050223	90050223	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:90050223C>A	uc001dni.2	+	7	2521	c.2014C>A	c.(2014-2016)CCC>ACC	p.P672T	LRRC8B_uc001dnh.2_Missense_Mutation_p.P672T|LRRC8B_uc001dnj.2_Missense_Mutation_p.P672T	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	672	LRR 9.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGAGAATCTGCCCTTGCAGCT	0.378												
ZNF326	284695	broad.mit.edu	37	1	90478719	90478719	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:90478719G>A	uc001dnq.2	+	7	988	c.849G>A	c.(847-849)AAG>AAA	p.K283K	ZNF326_uc009wda.1_Silent_p.K194K|ZNF326_uc001dnr.2_Silent_p.K77K	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGAAGAAAAGCGGCGAATTG	0.368												
ZNF644	84146	broad.mit.edu	37	1	91405022	91405022	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91405022A>T	uc001dnw.2	-	3	2031	c.1889T>A	c.(1888-1890)ATC>AAC	p.I630N	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.I630N	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTTCAAGGATGTCATTTTT	0.353												
ZNF644	84146	broad.mit.edu	37	1	91405907	91405907	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91405907A>G	uc001dnw.2	-	3	1146	c.1004T>C	c.(1003-1005)GTA>GCA	p.V335A	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.V335A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGTGAGTCTACTGCTTGTAG	0.353												
ZNF644	84146	broad.mit.edu	37	1	91406587	91406587	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:91406587A>G	uc001dnw.2	-	3	466	c.324T>C	c.(322-324)TTT>TTC	p.F108F	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.F108F	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAGGCAAGATAAAGTTTTCAC	0.408												
EVI5	7813	broad.mit.edu	37	1	92979436	92979436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:92979436G>A	uc001dox.2	-	18	2220	c.2210C>T	c.(2209-2211)TCA>TTA	p.S737L	EVI5_uc010otf.1_Missense_Mutation_p.S748L	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	737	Targeting to the centrosomes.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GGAATGGAATGATTCATCATC	0.428												
DNTTIP2	30836	broad.mit.edu	37	1	94335492	94335492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:94335492C>T	uc001dqf.2	-	7	2224	c.2186G>A	c.(2185-2187)CGA>CAA	p.R729Q	DNTTIP2_uc010otm.1_RNA	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTACTTCCTTCGGTTGTATCT	0.294												
ABCA4	24	broad.mit.edu	37	1	94528845	94528845	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:94528845T>C	uc001dqh.2	-	12	1687	c.1583A>G	c.(1582-1584)TAC>TGC	p.Y528C	ABCA4_uc010otn.1_Missense_Mutation_p.Y528C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	528	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCATCATTGTAGCTTTCAAA	0.493												
RWDD3	25950	broad.mit.edu	37	1	95710198	95710198	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:95710198A>G	uc009wdu.2	+	2	593	c.517A>G	c.(517-519)ATG>GTG	p.M173V	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.M158V|RWDD3_uc009wdt.2_Missense_Mutation_p.M173V|RWDD3_uc001drf.3_Missense_Mutation_p.M173V|RWDD3_uc001drh.3_Missense_Mutation_p.M158V|RWDD3_uc009wdv.2_RNA|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.M173V	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	173						cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGGAAGACTGATGTTCATGGG	0.368												
DPYD	1806	broad.mit.edu	37	1	98206022	98206022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:98206022C>T	uc001drv.2	-	4	384	c.247G>A	c.(247-249)GCA>ACA	p.A83T	DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.A83T	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	83	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGGGCATCTGCACATTTCAGG	0.338												
LPPR5	163404	broad.mit.edu	37	1	99380342	99380342	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:99380342C>A	uc001dsb.2	-	5	1155	c.933G>T	c.(931-933)CAG>CAT	p.Q311H	LPPR5_uc001dsc.2_Intron	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	311						integral to membrane	hydrolase activity				0						TGTGAGTCACCTGTACAGATG	0.348												
AGL	178	broad.mit.edu	37	1	100366349	100366349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100366349A>G	uc001dsi.1	+	26	3920	c.3520A>G	c.(3520-3522)ATT>GTT	p.I1174V	AGL_uc001dsj.1_Missense_Mutation_p.I1174V|AGL_uc001dsk.1_Missense_Mutation_p.I1174V|AGL_uc001dsl.1_Missense_Mutation_p.I1174V|AGL_uc001dsm.1_Missense_Mutation_p.I1158V|AGL_uc001dsn.1_Missense_Mutation_p.I1157V	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1174	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)		TGGTCTAGACATTCTCAAGTG	0.418												
HIAT1	64645	broad.mit.edu	37	1	100515493	100515493	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100515493A>G	uc001dst.2	+	2	113	c.113A>G	c.(112-114)TAT>TGT	p.Y38C		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	38	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCTAGTGTCTATCATGCAGTT	0.303												
RTCD1	8634	broad.mit.edu	37	1	100736176	100736176	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100736176A>G	uc001dtc.2	+	4	572	c.354A>G	c.(352-354)GAA>GAG	p.E118E	RTCD1_uc010ouh.1_Silent_p.E118E|RTCD1_uc001dtd.2_Silent_p.E131E	NM_003729	NP_003720	O00442	RTC1_HUMAN	RNA terminal phosphate cyclase domain 1 isoform	118					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)		CTCCATCAGAACTTCATTTGA	0.423												
CDC14A	8556	broad.mit.edu	37	1	100928305	100928305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:100928305C>T	uc001dtg.3	+	9	1194	c.706C>T	c.(706-708)CGC>TGC	p.R236C	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.R178C|CDC14A_uc001dte.3_Missense_Mutation_p.R236C|CDC14A_uc001dtf.2_Missense_Mutation_p.R236C|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.R236C	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	236	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		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)		TGAGGCAAAGCGCTTCACAGA	0.458												
SLC30A7	148867	broad.mit.edu	37	1	101431476	101431476	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:101431476T>C	uc001dtn.2	+	10	1270	c.1083_splice	c.e10+2	p.Q361_splice	SLC30A7_uc001dto.2_Splice_Site_p.Q361_splice	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2						zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTTACTCAGGTATGTCTTTTT	0.254												
DPH5	51611	broad.mit.edu	37	1	101458257	101458257	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:101458257T>C	uc001dts.2	-	7	717	c.570A>G	c.(568-570)GTA>GTG	p.V190V	DPH5_uc001dtr.2_Silent_p.V190V|DPH5_uc001dtq.2_Intron|DPH5_uc001dtt.2_Silent_p.V190V|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Intron|DPH5_uc001dty.2_Silent_p.V69V|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	190					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTGCTTGGTTTACACTCATAT	0.408												
C1orf194	127003	broad.mit.edu	37	1	109649218	109649218	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109649218A>G	uc009wev.2	-	4	446	c.378T>C	c.(376-378)GCT>GCC	p.A126A	C1orf194_uc001dwp.3_RNA|C1orf194_uc009wew.2_Silent_p.A114A	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	hypothetical protein LOC127003	126										ovary(1)	1						GTCTGATGTTAGCCAGGAAAG	0.483												
CELSR2	1952	broad.mit.edu	37	1	109813589	109813589	+	Silent	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109813589T>G	uc001dxa.3	+	25	7585	c.7524T>G	c.(7522-7524)CCT>CCG	p.P2508P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2508	Extracellular (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)		ACGGGAACCCTGACTTCTGCT	0.637												
EPS8L3	79574	broad.mit.edu	37	1	110301240	110301240	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110301240C>A	uc001dyr.1	-	7	652	c.507G>T	c.(505-507)GGG>GGT	p.G169G	EPS8L3_uc001dys.1_Silent_p.G169G|EPS8L3_uc001dyq.1_Silent_p.G170G|EPS8L3_uc009wfm.1_Silent_p.G136G|EPS8L3_uc009wfn.1_Silent_p.G136G|EPS8L3_uc009wfo.1_Silent_p.G116G	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	169						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCATAGCAGGCCCCCTCCATC	0.602												
AHCYL1	10768	broad.mit.edu	37	1	110558120	110558120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110558120G>A	uc001dyx.2	+	7	1116	c.749G>A	c.(748-750)GGC>GAC	p.G250D	AHCYL1_uc010ovw.1_Missense_Mutation_p.G203D|AHCYL1_uc001dyy.2_Missense_Mutation_p.G203D|AHCYL1_uc010ovx.1_Missense_Mutation_p.G203D	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	250					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAGATCCGAGGCATTGTGGAA	0.478												
SLC16A4	9122	broad.mit.edu	37	1	110925584	110925584	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110925584T>C	uc001dzo.1	-	3	274	c.92A>G	c.(91-93)AAT>AGT	p.N31S	SLC16A4_uc009wfs.1_Missense_Mutation_p.N31S|SLC16A4_uc001dzp.1_Missense_Mutation_p.N31S|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	31	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CACAAACACATTCACCTAAAT	0.428												
PROK1	84432	broad.mit.edu	37	1	110996681	110996681	+	Silent	SNP	C	C	T	rs138146720		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110996681C>T	uc001dzs.2	+	2	222	c.171C>T	c.(169-171)GGC>GGT	p.G57G		NM_032414	NP_115790	P58294	PROK1_HUMAN	prokineticin 1 precursor	57					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity				0		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGGAAGGCGAGGAGTGCC	0.662												
DENND2D	79961	broad.mit.edu	37	1	111738536	111738536	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:111738536A>G	uc001eak.1	-	6	845	c.645_splice	c.e6+1	p.E215_splice	DENND2D_uc001eal.1_Splice_Site_p.E212_splice	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D											ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGCTAACCCACCTCAGTGCC	0.547												
DDX20	11218	broad.mit.edu	37	1	112299330	112299330	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:112299330G>C	uc001ebs.2	+	2	721	c.364G>C	c.(364-366)GAC>CAC	p.D122H	C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	122	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAGCTTTGGACTCTCTTGT	0.428												
KCND3	3752	broad.mit.edu	37	1	112329582	112329582	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:112329582T>C	uc001ebu.1	-	3	1733	c.1253A>G	c.(1252-1254)AAA>AGA	p.K418R	KCND3_uc001ebv.1_Missense_Mutation_p.K418R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	418	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)		TGCCCTGCGTTTATCAGCTCT	0.562												
CAPZA1	829	broad.mit.edu	37	1	113192040	113192040	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113192040A>G	uc001ecj.1	+	3	496	c.104A>G	c.(103-105)GAC>GGC	p.D35G		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	35					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCCTCAGACGTTCGGCTA	0.343												
SLC16A1	6566	broad.mit.edu	37	1	113460498	113460498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113460498C>T	uc001ecx.2	-	4	1362	c.530G>A	c.(529-531)AGC>AAC	p.S177N	SLC16A1_uc001ecy.2_Missense_Mutation_p.S177N|SLC16A1_uc001ecz.2_Missense_Mutation_p.S177N	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	177	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AATTAGAAAGCTTCCTCTCCA	0.542												
LRIG2	9860	broad.mit.edu	37	1	113653136	113653136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113653136A>G	uc001edf.1	+	13	1948	c.1750A>G	c.(1750-1752)AAT>GAT	p.N584D	LRIG2_uc009wgn.1_Missense_Mutation_p.N481D	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	584	Ig-like C2-type 1.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TATTGTTACTAATCACTTTGG	0.318												
LRIG2	9860	broad.mit.edu	37	1	113657106	113657106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:113657106C>T	uc001edf.1	+	15	2336	c.2138C>T	c.(2137-2139)GCG>GTG	p.A713V	LRIG2_uc009wgn.1_Missense_Mutation_p.A610V	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	713	Ig-like C2-type 3.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GGTGAAACTGCGGTGTTACAG	0.443												
OLFML3	56944	broad.mit.edu	37	1	114524259	114524259	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:114524259T>C	uc001eer.1	+	3	1198	c.1089T>C	c.(1087-1089)CCT>CCC	p.P363P	OLFML3_uc001ees.1_Silent_p.P343P|OLFML3_uc001eet.1_Silent_p.P219P	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	363	Olfactomedin-like.				multicellular organismal development	extracellular region					0	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)		CAGCACTCCCTTATTTTCCCC	0.587												
AMPD1	270	broad.mit.edu	37	1	115226954	115226954	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:115226954T>C	uc001efe.1	-	5	497	c.413A>G	c.(412-414)AAA>AGA	p.K138R	AMPD1_uc001eff.1_Missense_Mutation_p.K134R	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	138					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATACAGACCTTTGCAAACAAT	0.393												
ANKRD35	148741	broad.mit.edu	37	1	145560171	145560171	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:145560171G>T	uc001eob.1	+	8	765	c.657G>T	c.(655-657)GGG>GGT	p.G219G	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.G62G	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	219	ANK 6.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGCACAGGGCATGATGCTC	0.632												
ANKRD35	148741	broad.mit.edu	37	1	145562258	145562258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:145562258G>A	uc001eob.1	+	10	2054	c.1946G>A	c.(1945-1947)AGC>AAC	p.S649N	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.S492N	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	649	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGTCCCTGAGCCAGCGGCTG	0.597												
HIST2H2AC	8338	broad.mit.edu	37	1	149858676	149858676	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:149858676A>G	uc001etd.2	+	1	152	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	51					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCCGTCTACATGGCGGCG	0.697												
HIST2H2AB	317772	broad.mit.edu	37	1	149859112	149859112	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:149859112T>C	uc001ete.2	-	1	355	c.355A>G	c.(355-357)AAG>GAG	p.K119E	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	119					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGTTTTCTTGGGCAACAGG	0.512												
CTSS	1520	broad.mit.edu	37	1	150724313	150724313	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:150724313A>G	uc001evn.2	-	5	704	c.571T>C	c.(571-573)TAC>CAC	p.Y191H	CTSS_uc010pcj.1_Missense_Mutation_p.Y141H|CTSS_uc001evo.1_Missense_Mutation_p.Y191H	NM_004079	NP_004070	P25774	CATS_HUMAN	cathepsin S preproprotein	191					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity				0	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAATGATGTACTGGAAAGCC	0.468												
SETDB1	9869	broad.mit.edu	37	1	150915397	150915397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:150915397C>T	uc001evu.2	+	7	933	c.743C>T	c.(742-744)GCC>GTC	p.A248V	SETDB1_uc009wmf.2_Missense_Mutation_p.A248V|SETDB1_uc001evv.2_Missense_Mutation_p.A248V|SETDB1_uc001evw.3_Missense_Mutation_p.A248V|SETDB1_uc009wmg.1_Missense_Mutation_p.A248V	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCATATTGCCTATGATTAC	0.448												
GABPB2	126626	broad.mit.edu	37	1	151062940	151062940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151062940T>C	uc001ewr.2	+	3	498	c.167T>C	c.(166-168)GTA>GCA	p.V56A	GABPB2_uc010pcp.1_Missense_Mutation_p.V72A|GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	56	ANK 2.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ACAGCAGAAGTACTCCTTCGA	0.448												
POGZ	23126	broad.mit.edu	37	1	151378275	151378275	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151378275T>C	uc001eyd.1	-	19	3542	c.3236A>G	c.(3235-3237)CAC>CGC	p.H1079R	POGZ_uc001eye.1_Missense_Mutation_p.H1026R|POGZ_uc010pdb.1_Missense_Mutation_p.H1070R|POGZ_uc001eyf.1_Missense_Mutation_p.H1035R|POGZ_uc010pdc.1_Missense_Mutation_p.H1017R|POGZ_uc009wmv.1_Missense_Mutation_p.H984R|POGZ_uc010pdd.1_Missense_Mutation_p.H570R	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1079	HTH CENPB-type.				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)			AGTCAGGTGGTGCCGCAGCAT	0.522												
CGN	57530	broad.mit.edu	37	1	151491656	151491656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151491656C>T	uc009wmw.2	+	2	805	c.661C>T	c.(661-663)CGG>TGG	p.R221W		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	215	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGCCTCCCACGGGACACCTT	0.622												
CGN	57530	broad.mit.edu	37	1	151502450	151502450	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151502450G>A	uc009wmw.2	+	12	2316	c.2172G>A	c.(2170-2172)ACG>ACA	p.T724T		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	718	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAGACGACGCTTCGGGAGA	0.642												
CGN	57530	broad.mit.edu	37	1	151502999	151502999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151502999C>T	uc009wmw.2	+	13	2492	c.2348C>T	c.(2347-2349)GCG>GTG	p.A783V		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	777	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTGAATGCGTCCCAGGAA	0.622												
SNX27	81609	broad.mit.edu	37	1	151664929	151664929	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151664929A>G	uc001eyn.1	+	9	1274	c.1258A>G	c.(1258-1260)ACT>GCT	p.T420A	SNX27_uc001eyo.2_Missense_Mutation_p.T327A|SNX27_uc001eyp.2_Missense_Mutation_p.T234A	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	420					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCTAAGGACTTGTGAGGG	0.393												
FLG	2312	broad.mit.edu	37	1	152286065	152286065	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:152286065C>A	uc001ezu.1	-	3	1333	c.1297G>T	c.(1297-1299)GAC>TAC	p.D433Y	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	433	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)			GATTGTGTGTCTGAGTTTTCT	0.602									Ichthyosis			
JTB	10899	broad.mit.edu	37	1	153947257	153947257	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:153947257G>A	uc001fds.2	-	5	1062	c.339C>T	c.(337-339)GTC>GTT	p.V113V		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	113	Helical; (Potential).				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACACACACGACAGCCCCTT	0.502												
JTB	10899	broad.mit.edu	37	1	153949675	153949675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:153949675C>T	uc001fds.2	-	1	777	c.54G>A	c.(52-54)TGG>TGA	p.W18*		NM_006694	NP_006685	O76095	JTB_HUMAN	jumping translocation breakpoint precursor	18					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGAGCAACCAGCAGAGGT	0.637												
UBAP2L	9898	broad.mit.edu	37	1	154227697	154227697	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154227697T>C	uc001fep.3	+	17	2146	c.1979T>C	c.(1978-1980)GTA>GCA	p.V660A	UBAP2L_uc009wot.2_Missense_Mutation_p.V660A|UBAP2L_uc010pek.1_Missense_Mutation_p.V652A|UBAP2L_uc010pel.1_Missense_Mutation_p.V670A|UBAP2L_uc010pen.1_Missense_Mutation_p.V574A|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	660					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATGAAACGGTATCTGCAGCT	0.468												
ATP8B2	57198	broad.mit.edu	37	1	154315770	154315770	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154315770G>A	uc001fex.2	+	16	1734	c.1734G>A	c.(1732-1734)TCG>TCA	p.S578S		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	564	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGATGTCGGTCATAGGTG	0.577												
ATP8B2	57198	broad.mit.edu	37	1	154317917	154317917	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154317917T>C	uc001fex.2	+	23	2689	c.2689T>C	c.(2689-2691)TCC>CCC	p.S897P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	883	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGCGCTGGTCCTACCTGCG	0.522											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SHC1	6464	broad.mit.edu	37	1	154938847	154938847	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:154938847G>A	uc001ffv.2	-	8	1351	c.1130C>T	c.(1129-1131)GCT>GTT	p.A377V	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.A148V|SHC1_uc001ffw.2_Missense_Mutation_p.A377V|SHC1_uc001ffx.2_Missense_Mutation_p.A267V|SHC1_uc001ffy.2_Missense_Mutation_p.A267V	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	377	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTGGGTCGAGCAGCCCCTGG	0.622												
HCN3	57657	broad.mit.edu	37	1	155252316	155252316	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155252316A>G	uc001fjz.1	+	2	401	c.393A>G	c.(391-393)GTA>GTG	p.V131V	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	131	Helical; Name=Segment S2; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			TCTTCAACGTATTGTCTGATA	0.567												
HCN3	57657	broad.mit.edu	37	1	155257627	155257627	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155257627T>C	uc001fjz.1	+	8	1706	c.1698T>C	c.(1696-1698)AGT>AGC	p.S566S	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Silent_p.S261S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	566	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			CAGGCAGCAGTGGTGGCATCA	0.567												
ARHGEF2	9181	broad.mit.edu	37	1	155920975	155920975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155920975C>T	uc001fmt.2	-	20	2466	c.2348G>A	c.(2347-2349)CGG>CAG	p.R783Q	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R21Q|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R755Q|ARHGEF2_uc001fms.2_Missense_Mutation_p.R782Q|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R827Q	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	783					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCCATCCCGAGAGTTGGC	0.662												
ARHGEF2	9181	broad.mit.edu	37	1	155932848	155932848	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:155932848T>C	uc001fmt.2	-	8	969	c.851A>G	c.(850-852)GAC>GGC	p.D284G	ARHGEF2_uc001fmr.2_Missense_Mutation_p.D256G|ARHGEF2_uc001fms.2_Missense_Mutation_p.D283G|ARHGEF2_uc001fmu.2_Missense_Mutation_p.D328G|ARHGEF2_uc010pgt.1_Missense_Mutation_p.D257G|ARHGEF2_uc010pgu.1_Missense_Mutation_p.D329G	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	284	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTGAGCTCGTCCACGCAGGG	0.607												
TMEM79	84283	broad.mit.edu	37	1	156256064	156256064	+	Silent	SNP	C	C	T	rs6663955	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156256064C>T	uc010phi.1	+	3	967	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	TMEM79_uc001fod.2_Silent_p.Y98Y|TMEM79_uc009wrw.2_Silent_p.Y257Y	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	257	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					TCCTGGTGTACGGGCTGAGCC	0.612												
RHBG	57127	broad.mit.edu	37	1	156352561	156352561	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156352561A>G	uc010pho.1	+	8	1173	c.1135A>G	c.(1135-1137)ATA>GTA	p.I379V	RHBG_uc010phm.1_3'UTR|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.I310V|RHBG_uc009wrz.2_Missense_Mutation_p.I347V|RHBG_uc001for.2_Missense_Mutation_p.I349V	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	379	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GTTTCCACTCATAGCCGAGGG	0.632											OREG0013870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BCAN	63827	broad.mit.edu	37	1	156621381	156621381	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156621381T>C	uc001fpp.2	+	7	1533	c.1197T>C	c.(1195-1197)AGT>AGC	p.S399S	BCAN_uc001fpo.2_Silent_p.S399S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	399	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACAGAGAGTGAATCCCGTG	0.517												
ARHGEF11	9826	broad.mit.edu	37	1	156917590	156917590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:156917590C>T	uc001fqo.2	-	24	3232	c.2192G>A	c.(2191-2193)CGG>CAG	p.R731Q	ARHGEF11_uc010phu.1_Missense_Mutation_p.R147Q|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R771Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	731					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)					GTCAATCTCCCGCTGGGTTAG	0.577												
FCRL2	79368	broad.mit.edu	37	1	157738348	157738348	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:157738348T>C	uc001fre.2	-	5	798	c.739A>G	c.(739-741)AGT>GGT	p.S247G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.S247G|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	247	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCCATACTGGTTCCTGTG	0.522												
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:158517519T>C	uc010pil.1	-	1	377	c.377A>G	c.(376-378)GAC>GGC	p.D126G		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468												
IGSF9	57549	broad.mit.edu	37	1	159902365	159902365	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:159902365G>T	uc001fur.2	-	10	1380	c.1182C>A	c.(1180-1182)TCC>TCA	p.S394S	IGSF9_uc001fuq.2_Silent_p.S378S|IGSF9_uc001fup.2_5'Flank	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	394	Ig-like 4.|Extracellular (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)			AGGGGGTGCAGGAGTATTCTC	0.632												
PIGM	93183	broad.mit.edu	37	1	160000350	160000350	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160000350A>G	uc001fuv.1	-	1	1434	c.1180T>C	c.(1180-1182)TTG>CTG	p.L394L		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	394	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAAAGAACAAACCAGCTAAC	0.383												
ATP1A2	477	broad.mit.edu	37	1	160099084	160099084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160099084C>T	uc001fvc.2	+	11	1487	c.1355C>T	c.(1354-1356)TCA>TTA	p.S452L	ATP1A2_uc001fvb.2_Missense_Mutation_p.S452L|ATP1A2_uc001fvd.2_Missense_Mutation_p.S188L|ATP1A2_uc009wtg.1_Missense_Mutation_p.S140L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	452	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTCTGAGTCAGCTCTGCTC	0.532												
ATP1A2	477	broad.mit.edu	37	1	160099153	160099153	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160099153T>C	uc001fvc.2	+	11	1556	c.1424T>C	c.(1423-1425)GTG>GCG	p.V475A	ATP1A2_uc001fvb.2_Missense_Mutation_p.V475A|ATP1A2_uc001fvd.2_Missense_Mutation_p.V211A|ATP1A2_uc009wtg.1_Missense_Mutation_p.V163A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	475	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AACCCCAAGGTGGCAGAGATT	0.522												
USF1	7391	broad.mit.edu	37	1	161011634	161011634	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161011634C>T	uc001fxi.2	-	6	474	c.279G>A	c.(277-279)GCG>GCA	p.A93A	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.A34A	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	93					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGGATCACCGCCTGGGAAG	0.537												
DEDD	9191	broad.mit.edu	37	1	161092087	161092087	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161092087T>C	uc001fxz.2	-	6	980	c.807A>G	c.(805-807)TTA>TTG	p.L269L	NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Silent_p.L299L|DEDD_uc001fya.2_Silent_p.L269L|DEDD_uc001fyb.2_Silent_p.L269L|DEDD_uc010pkb.1_Silent_p.L226L|DEDD_uc001fyc.2_Silent_p.L109L	NM_001039712	NP_001034801	O75618	DEDD_HUMAN	death effector domain-containing protein	269					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TAAGTGCCTCTAATAAAGAGC	0.502												
NR1I3	9970	broad.mit.edu	37	1	161203070	161203070	+	Silent	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161203070T>G	uc001fzx.2	-	4	500	c.297A>C	c.(295-297)GCA>GCC	p.A99A	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.A99A|NR1I3_uc001fzg.2_Silent_p.A70A|NR1I3_uc001fzh.2_Silent_p.A70A|NR1I3_uc001fzi.2_Silent_p.A70A|NR1I3_uc001fzj.2_Silent_p.A70A|NR1I3_uc001fzk.2_Silent_p.A70A|NR1I3_uc001fzl.2_Silent_p.A70A|NR1I3_uc001fzm.2_Silent_p.A24A|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Silent_p.A99A|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.A99A|NR1I3_uc001fzy.2_Silent_p.A99A|NR1I3_uc001fzz.2_Silent_p.A99A|NR1I3_uc001gaa.2_Silent_p.A99A|NR1I3_uc001gab.2_Silent_p.A99A|NR1I3_uc001gac.2_Silent_p.A70A|NR1I3_uc010pkm.1_Silent_p.A70A|NR1I3_uc010pkn.1_Silent_p.A99A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	99					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGTTTGCTGTGCCCGCCGCT	0.582												
FCGR2A	2212	broad.mit.edu	37	1	161487831	161487831	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161487831A>G	uc001gan.2	+	7	900	c.847A>G	c.(847-849)ACA>GCA	p.T283A	FCGR2A_uc001gam.2_Missense_Mutation_p.T282A|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	283	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	TGACTATGAAACAGCTGACGG	0.284												
UHMK1	127933	broad.mit.edu	37	1	162467856	162467856	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:162467856G>A	uc001gcc.1	+	1	202	c.66G>A	c.(64-66)CTG>CTA	p.L22L	UHMK1_uc001gcb.1_Intron|UHMK1_uc009wuu.1_Silent_p.L22L	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	kinase interacting stathmin	22					cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding				0	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCGGGCGGCTGTGGCAGGTAC	0.711												
DDR2	4921	broad.mit.edu	37	1	162731167	162731167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:162731167G>A	uc001gcf.2	+	10	1487	c.1022G>A	c.(1021-1023)CGA>CAA	p.R341Q	DDR2_uc001gcg.2_Missense_Mutation_p.R341Q	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	341	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCCACCACCGAATGGCCAGT	0.522												
RXRG	6258	broad.mit.edu	37	1	165398092	165398092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:165398092C>T	uc001gda.2	-	2	461	c.161G>A	c.(160-162)CGG>CAG	p.R54Q		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	54	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCAGAGTCCGTGGGGCACT	0.612												
ADCY10	55811	broad.mit.edu	37	1	167825464	167825464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:167825464C>T	uc001ger.2	-	17	2408	c.2110G>A	c.(2110-2112)GAC>AAC	p.D704N	ADCY10_uc009wvk.2_Missense_Mutation_p.D612N|ADCY10_uc010plj.1_Missense_Mutation_p.D551N|ADCY10_uc009wvl.2_Missense_Mutation_p.D703N	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	704					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTGGAGATGTCGTTAGGCTGT	0.478												
F5	2153	broad.mit.edu	37	1	169510030	169510030	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:169510030A>G	uc001ggg.1	-	13	4443	c.4298T>C	c.(4297-4299)CTC>CCC	p.L1433P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1433	2-28.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACCTGGCTGAGGTCTGGGGA	0.522												
C1orf129	80133	broad.mit.edu	37	1	170940930	170940930	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:170940930G>A	uc001ghg.2	+	8	652	c.522G>A	c.(520-522)GAG>GAA	p.E174E	C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.E174E	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	174							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCAGCAGAGCTGTCTCTTT	0.433												
BAT2L2	23215	broad.mit.edu	37	1	171505354	171505354	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:171505354T>C	uc010pmg.1	+	14	2490	c.2224T>C	c.(2224-2226)TCC>CCC	p.S742P		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	742	Pro-rich.						protein C-terminus binding				0						CATGATGCAGTCCTACATGGA	0.458												
C1orf9	51430	broad.mit.edu	37	1	172538216	172538216	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:172538216G>T	uc001giq.3	+	7	1106	c.790G>T	c.(790-792)GAT>TAT	p.D264Y	C1orf9_uc010pmm.1_Missense_Mutation_p.D264Y|C1orf9_uc009wwd.2_Missense_Mutation_p.D227Y|C1orf9_uc010pmn.1_Missense_Mutation_p.D227Y|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	264					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)		AAGTCCCAAAGATCCAGAAGA	0.318												
SLC9A11	284525	broad.mit.edu	37	1	173493985	173493985	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:173493985A>G	uc001giz.2	-	20	2870	c.2447T>C	c.(2446-2448)CTA>CCA	p.L816P	SLC9A11_uc009wwe.2_Missense_Mutation_p.L374P|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	816					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GAGATTTTTTAGAGCTTTAGC	0.378												
KLHL20	27252	broad.mit.edu	37	1	173751271	173751271	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:173751271G>T	uc001gjc.2	+	11	1827	c.1648G>T	c.(1648-1650)GCA>TCA	p.A550S	KLHL20_uc010pmr.1_Missense_Mutation_p.A361S|KLHL20_uc009wwf.2_Missense_Mutation_p.A532S	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	550	Kelch 5.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GGTTGGCCTGGCAGTGGTCAA	0.393												
TNR	7143	broad.mit.edu	37	1	175299243	175299243	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:175299243T>C	uc001gkp.1	-	19	3841	c.3760A>G	c.(3760-3762)AAA>GAA	p.K1254E	TNR_uc009wwu.1_Missense_Mutation_p.K1254E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1254	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ATGCGGAGTTTGTACAGGTTT	0.607												
TNR	7143	broad.mit.edu	37	1	175365680	175365680	+	Missense_Mutation	SNP	G	G	A	rs78460048	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:175365680G>A	uc001gkp.1	-	3	1321	c.1240C>T	c.(1240-1242)CAT>TAT	p.H414Y	TNR_uc009wwu.1_Missense_Mutation_p.H414Y|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	414	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGGTACGTACGGGTGGCCACC	0.502												
ABL2	27	broad.mit.edu	37	1	179090927	179090927	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:179090927G>A	uc001gmj.3	-	5	1050	c.763C>T	c.(763-765)CTG>TTG	p.L255L	ABL2_uc010pnf.1_Silent_p.L255L|ABL2_uc010png.1_Silent_p.L234L|ABL2_uc010pnh.1_Silent_p.L234L|ABL2_uc009wxe.2_Silent_p.L234L|ABL2_uc001gmg.3_Silent_p.L240L|ABL2_uc001gmi.3_Silent_p.L240L|ABL2_uc001gmh.3_Silent_p.L219L|ABL2_uc010pne.1_Silent_p.L219L|ABL2_uc009wxf.1_Silent_p.L240L|ABL2_uc001gmk.2_Silent_p.L219L	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	255	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTTGTCACCAGCCCATCAGCC	0.493			T	ETV6	AML							
CEP350	9857	broad.mit.edu	37	1	180049727	180049727	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:180049727C>G	uc001gnt.2	+	30	6438	c.6055C>G	c.(6055-6057)CAC>GAC	p.H2019D	CEP350_uc009wxl.2_Missense_Mutation_p.H2018D|CEP350_uc001gnv.2_Missense_Mutation_p.H154D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2019						centrosome|nucleus|spindle				ovary(4)	4						AGGACAATGTCACCTGCCTAT	0.418											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
CACNA1E	777	broad.mit.edu	37	1	181620510	181620510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:181620510T>C	uc001gow.2	+	7	1153	c.988T>C	c.(988-990)TAC>CAC	p.Y330H	CACNA1E_uc009wxr.2_Missense_Mutation_p.Y237H|CACNA1E_uc009wxs.2_Missense_Mutation_p.Y237H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	330	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAATTGGCTGTACTTCATCCC	0.423												
FAM129A	116496	broad.mit.edu	37	1	184868364	184868364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:184868364C>T	uc001gra.2	-	2	328	c.134G>A	c.(133-135)CGC>CAC	p.R45H	FAM129A_uc009wyh.1_Missense_Mutation_p.R45H|FAM129A_uc009wyi.1_5'UTR	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	niban protein isoform 2	45					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				ovary(3)|skin(1)	4						TACTTCAGTGCGCACGTGATT	0.408												
C1orf25	81627	broad.mit.edu	37	1	185113148	185113148	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185113148T>C	uc001grf.3	-	6	941	c.669A>G	c.(667-669)AAA>AAG	p.K223K	C1orf25_uc010pon.1_Silent_p.K67K	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	223						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						CCTTAGGTGGTTTAGCAGTGG	0.328												
HMCN1	83872	broad.mit.edu	37	1	185897791	185897791	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185897791A>T	uc001grq.1	+	10	1773	c.1544A>T	c.(1543-1545)GAC>GTC	p.D515V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	515	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACATTTTTTGACGTATCAGGT	0.393												
HMCN1	83872	broad.mit.edu	37	1	185984507	185984507	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:185984507A>G	uc001grq.1	+	31	5076	c.4847A>G	c.(4846-4848)TAT>TGT	p.Y1616C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1616	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCAGCAACATATACGTGTCAT	0.398												
PLA2G4A	5321	broad.mit.edu	37	1	186919810	186919810	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186919810T>C	uc001gsc.2	+	13	1491	c.1286T>C	c.(1285-1287)ATT>ACT	p.I429T	PLA2G4A_uc010pos.1_Missense_Mutation_p.I369T	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	429	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ACAAAGCATATTGTGAGTAAT	0.338												
KCNT2	343450	broad.mit.edu	37	1	196227322	196227322	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:196227322A>G	uc001gtd.1	-	26	3271	c.3211_splice	c.e26+1	p.D1071_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.D1004_splice|KCNT2_uc001gtf.1_Splice_Site_p.D1047_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc001gth.1_Silent_p.G575G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TAAAGAGCATACCATATCCCA	0.353												
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:196227479C>T	uc001gtd.1	-	26	3116	c.3056G>A	c.(3055-3057)CGA>CAA	p.R1019Q	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R952Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R995Q|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R523Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCTCAGTCTTCGGGCCCACTG	0.512												
ASPM	259266	broad.mit.edu	37	1	197073120	197073120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197073120G>A	uc001gtu.2	-	18	5518	c.5261C>T	c.(5260-5262)GCT>GTT	p.A1754V	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1754	IQ 6.|IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TGAAATAACAGCTTTTCTTTG	0.358												
ZBTB41	360023	broad.mit.edu	37	1	197144177	197144177	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197144177A>G	uc001gtx.1	-	8	2017	c.1948T>C	c.(1948-1950)TAC>CAC	p.Y650H	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	650	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						ACGCTTTTGTAATGAACAGTG	0.353												
ZBTB41	360023	broad.mit.edu	37	1	197145784	197145784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197145784G>A	uc001gtx.1	-	7	1858	c.1789C>T	c.(1789-1791)CAT>TAT	p.H597Y	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	597	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCATCATGATGTACTCGTAAG	0.303												
CAMSAP1L1	23271	broad.mit.edu	37	1	200817864	200817864	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:200817864A>G	uc001gvl.2	+	12	2270	c.2000A>G	c.(1999-2001)AAC>AGC	p.N667S	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.N656S|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.N640S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	667						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CGAACTGGCAACACCAGGGAA	0.423												
CACNA1S	779	broad.mit.edu	37	1	201012511	201012511	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201012511T>C	uc001gvv.2	-	40	5173	c.4946A>G	c.(4945-4947)CAA>CGA	p.Q1649R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1649	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCGTGGATCTTGTGGGAAGTC	0.542											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1S	779	broad.mit.edu	37	1	201027620	201027620	+	Splice_Site	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201027620C>A	uc001gvv.2	-	28	3753	c.3526_splice	c.e28-1	p.G1176_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGTAGCCCTGGGAAGGAA	0.547												
CACNA1S	779	broad.mit.edu	37	1	201058496	201058496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201058496C>T	uc001gvv.2	-	6	1017	c.790G>A	c.(790-792)GGC>AGC	p.G264S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	264	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGGCCAGCCGCCCCGGCAC	0.622												
IGFN1	91156	broad.mit.edu	37	1	201183362	201183362	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201183362C>T	uc001gwc.2	+	2	1038	c.266C>T	c.(265-267)GCC>GTC	p.A89V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CCGGGGGAGGCCGCCACACTC	0.642												
IGFN1	91156	broad.mit.edu	37	1	201187691	201187691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201187691G>A	uc001gwc.2	+	7	2055	c.1283G>A	c.(1282-1284)GGC>GAC	p.G428D	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GTGCGGCAGGGCTGTCAGTAT	0.627												
ELF3	1999	broad.mit.edu	37	1	201983122	201983122	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201983122T>C	uc001gxg.3	+	7	4163	c.971T>C	c.(970-972)ATG>ACG	p.M324T	ELF3_uc001gxi.3_Missense_Mutation_p.M324T|ELF3_uc001gxh.3_Missense_Mutation_p.M324T	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	324	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						AACAGCAACATGACCTACGAG	0.602												
ELF3	1999	broad.mit.edu	37	1	201984339	201984339	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:201984339A>G	uc001gxg.3	+	8	4196	c.1004A>G	c.(1003-1005)TAC>TGC	p.Y335C	ELF3_uc001gxi.3_Missense_Mutation_p.Y335C|ELF3_uc001gxh.3_Missense_Mutation_p.Y335C	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	335	ETS.			RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter.	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TCACCCAGGTACTACTACAAA	0.592												
LGR6	59352	broad.mit.edu	37	1	202287753	202287753	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:202287753C>T	uc001gxu.2	+	18	2322	c.2322C>T	c.(2320-2322)CAC>CAT	p.H774H	LGR6_uc001gxv.2_Silent_p.H722H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.H635H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGTGAGGCACGTGGCCTGGC	0.642												
TMEM183A	92703	broad.mit.edu	37	1	202989959	202989959	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:202989959G>A	uc001gyu.1	+	7	886	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Silent_p.Q275Q|TMEM183A_uc001gyx.1_Missense_Mutation_p.A273T|TMEM183A_uc001gyy.2_5'Flank	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	276						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)			GAGGATTGCAGCCTCCCGTTC	0.453												
SOX13	9580	broad.mit.edu	37	1	204091106	204091106	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204091106C>A	uc001ham.2	+	8	1449	c.854C>A	c.(853-855)CCC>CAC	p.P285H	SOX13_uc010pqp.1_Missense_Mutation_p.P284H|SOX13_uc010pqq.1_Missense_Mutation_p.P152H	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	285	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCACCACCCCCTGCAGGTA	0.662												
CNTN2	6900	broad.mit.edu	37	1	205030997	205030997	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205030997G>A	uc001hbr.2	+	9	1247	c.978G>A	c.(976-978)CAG>CAA	p.Q326Q	CNTN2_uc001hbq.1_Silent_p.Q217Q|CNTN2_uc009xbi.2_Silent_p.Q217Q|CNTN2_uc001hbs.2_Silent_p.Q114Q	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	326					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACAGCTCAGCCTGAGTGGC	0.582											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDK18	5129	broad.mit.edu	37	1	205492416	205492416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205492416C>T	uc001hcr.2	+	2	340	c.121C>T	c.(121-123)CGG>TGG	p.R41W	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.R41W|CDK18_uc001hcq.2_Missense_Mutation_p.R41W|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	39							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CCACAACCGGCGGAATGAGAG	0.612												
ELK4	2005	broad.mit.edu	37	1	205592853	205592853	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205592853T>C	uc001hcy.1	-	2	1408	c.158A>G	c.(157-159)AAC>AGC	p.N53S	ELK4_uc001hcz.2_Missense_Mutation_p.N53S|SLC45A3_uc010prn.1_Missense_Mutation_p.N142S|SLC45A3_uc010pro.1_Missense_Mutation_p.N326S|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_RNA	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	53	ETS.					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATAATTCATGTTAGGCTTGTT	0.443			T	SLC45A3	prostate							
PM20D1	148811	broad.mit.edu	37	1	205801816	205801816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:205801816C>T	uc001hdj.2	-	11	1240	c.1195G>A	c.(1195-1197)GTC>ATC	p.V399I	PM20D1_uc009xbr.2_RNA	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1 precursor	399						extracellular region	metal ion binding|peptidase activity			skin(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAAGGGCTGACGGGGAGGGGG	0.537												
IKBKE	9641	broad.mit.edu	37	1	206649592	206649592	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:206649592C>T	uc001hdz.1	+	6	795	c.427C>T	c.(427-429)CGC>TGC	p.R143C	IKBKE_uc009xbu.1_Missense_Mutation_p.R143C|IKBKE_uc009xbv.1_Missense_Mutation_p.R143C|IKBKE_uc001hea.1_Missense_Mutation_p.R58C	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	143	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					GAACATCATGCGCCTCGTAGG	0.617												
DYRK3	8444	broad.mit.edu	37	1	206822274	206822274	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:206822274A>G	uc001hej.2	+	3	1899	c.1731A>G	c.(1729-1731)ATA>ATG	p.I577M	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.I557M	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	577					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGGTAGTATACCCCTATGCA	0.403												
CR1	1378	broad.mit.edu	37	1	207785082	207785082	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:207785082T>C	uc001hfy.2	+	30	5146	c.5006T>C	c.(5005-5007)TTT>TCT	p.F1669S	CR1_uc001hfx.2_Missense_Mutation_p.F2119S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1669	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAGGACAACTTTTCACCTGGG	0.557												
PLXNA2	5362	broad.mit.edu	37	1	208225688	208225688	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:208225688T>C	uc001hgz.2	-	15	3735	c.2977A>G	c.(2977-2979)ACC>GCC	p.T993A		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	993	Extracellular (Potential).|IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACTCGCAGGTCTGGTTGCCC	0.542												
CAMK1G	57172	broad.mit.edu	37	1	209785386	209785386	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:209785386C>A	uc001hhd.2	+	11	1267	c.1165C>A	c.(1165-1167)CTC>ATC	p.L389I	CAMK1G_uc001hhf.3_Missense_Mutation_p.L389I|CAMK1G_uc001hhe.2_Missense_Mutation_p.L389I	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	389						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGCAGGTCCCTCAACTGCCT	0.677												
LAMB3	3914	broad.mit.edu	37	1	209800773	209800773	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:209800773C>T	uc001hhg.2	-	11	1830	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	LAMB3_uc009xco.2_Silent_p.P480P|LAMB3_uc001hhh.2_Silent_p.P480P|LAMB3_uc010psl.1_RNA	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	480	Laminin EGF-like 4.				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)		CGCAGGCACACGGTTCACAGC	0.652											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NEK2	4751	broad.mit.edu	37	1	211847636	211847636	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:211847636A>G	uc001hir.1	-	2	460	c.314_splice	c.e2+1	p.R105_splice	NEK2_uc001hiq.1_Splice_Site_p.R105_splice|NEK2_uc001his.3_Splice_Site_p.R105_splice|NEK2_uc001hit.1_Splice_Site	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2						cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GATTATGCTTACCTTTCCTTG	0.338												
INTS7	25896	broad.mit.edu	37	1	212141247	212141247	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:212141247T>C	uc001hiw.1	-	15	2192	c.2087A>G	c.(2086-2088)GAC>GGC	p.D696G	INTS7_uc009xdb.1_Missense_Mutation_p.D696G|INTS7_uc001hix.1_Missense_Mutation_p.D572G|INTS7_uc001hiy.1_Missense_Mutation_p.D696G|INTS7_uc010pta.1_Missense_Mutation_p.D647G	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	696					snRNA processing	integrator complex	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTTGCTGAGTCAGCATCAAA	0.368												
DTL	51514	broad.mit.edu	37	1	212254037	212254037	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:212254037A>G	uc009xdc.2	+	13	1520	c.1206A>G	c.(1204-1206)AAA>AAG	p.K402K	DTL_uc010ptb.1_Silent_p.K360K|DTL_uc001hiz.3_Silent_p.K131K	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	402					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GAGGTGATAAACTTTCCACGG	0.418												
PTPN14	5784	broad.mit.edu	37	1	214557902	214557902	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:214557902G>A	uc001hkk.1	-	13	1567	c.1296C>T	c.(1294-1296)AGC>AGT	p.S432S	PTPN14_uc010pty.1_Silent_p.S333S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	432					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGATGATCGCGCTGTGCCGGT	0.592												
CENPF	1063	broad.mit.edu	37	1	214826249	214826249	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:214826249G>T	uc001hkm.2	+	16	8413	c.8239G>T	c.(8239-8241)GAC>TAC	p.D2747Y		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2843	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				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)		GCTGGAGATAGACCTTTTAAA	0.328												
KCTD3	51133	broad.mit.edu	37	1	215792534	215792534	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:215792534T>C	uc001hks.2	+	17	2081	c.1787T>C	c.(1786-1788)CTC>CCC	p.L596P	KCTD3_uc001hkt.2_Missense_Mutation_p.L594P|KCTD3_uc010pub.1_Missense_Mutation_p.L494P|KCTD3_uc009xdn.2_Missense_Mutation_p.L320P	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	596						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTCAAATTACTCGATCAATGT	0.403												
SPATA17	128153	broad.mit.edu	37	1	218036154	218036154	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:218036154A>G	uc001hlh.1	+	10	1070	c.1044A>G	c.(1042-1044)TCA>TCG	p.S348S	SPATA17_uc001hli.2_Silent_p.S348S	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	348						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCTCTTCTCAAAGTATGGAA	0.284												
TP53BP2	7159	broad.mit.edu	37	1	223987704	223987704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:223987704C>T	uc010pvb.1	-	11	1674	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	TP53BP2_uc001hod.2_Missense_Mutation_p.R332H|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.R100H	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	455					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)		TGAGAACGGACGCACTTTCTT	0.428												
TMEM63A	9725	broad.mit.edu	37	1	226058796	226058796	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:226058796C>T	uc001hpm.1	-	6	601	c.351G>A	c.(349-351)CTG>CTA	p.L117L	TMEM63A_uc010pvi.1_Silent_p.L117L	NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	117						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					AGATGGCAGTCAGCCAGGGAC	0.522												
ITPKB	3707	broad.mit.edu	37	1	226924812	226924812	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:226924812G>A	uc010pvo.1	-	2	688	c.348C>T	c.(346-348)GCC>GCT	p.A116A	ITPKB_uc001hqh.2_Silent_p.A116A	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	116							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				AGAGGGTACCGGCTGCCACCA	0.527												
OBSCN	84033	broad.mit.edu	37	1	228496809	228496809	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:228496809T>C	uc009xez.1	+	48	12793	c.12749T>C	c.(12748-12750)GTG>GCG	p.V4250A	OBSCN_uc001hsn.2_Missense_Mutation_p.V4250A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4250	Ig-like 44.				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)				GCTCCTGAGGTGACCATCCTG	0.647												
URB2	9816	broad.mit.edu	37	1	229772691	229772691	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:229772691A>C	uc001hts.1	+	4	2467	c.2331A>C	c.(2329-2331)GAA>GAC	p.E777D	URB2_uc009xfd.1_Missense_Mutation_p.E777D	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	777						nucleolus				central_nervous_system(2)|ovary(1)	3						AAGCCCAGGAAGTCTCAATAG	0.443												
COG2	22796	broad.mit.edu	37	1	230800261	230800261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:230800261G>A	uc001htw.2	+	5	564	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	COG2_uc001htx.2_Missense_Mutation_p.R138Q|COG2_uc010pwc.1_Missense_Mutation_p.R11Q	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	138					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAAGTTATTCGGTCAGTTGAG	0.269												
TTC13	79573	broad.mit.edu	37	1	231061307	231061307	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:231061307T>C	uc001huf.3	-	13	1575	c.1544A>G	c.(1543-1545)CAA>CGA	p.Q515R	TTC13_uc009xfi.2_Missense_Mutation_p.Q462R|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.Q462R|TTC13_uc009xfk.1_Missense_Mutation_p.Q405R	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	515							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGTTTCATATTGCATCAGGGA	0.413												
GNPAT	8443	broad.mit.edu	37	1	231409726	231409726	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:231409726A>G	uc001hup.3	+	12	1867	c.1661A>G	c.(1660-1662)AAA>AGA	p.K554R	GNPAT_uc009xfp.2_Missense_Mutation_p.K493R	NM_014236	NP_055051	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	554					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			ovary(3)|breast(1)	4	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTGACTACGAAAGACATCCTA	0.373												
SLC35F3	148641	broad.mit.edu	37	1	234444889	234444889	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:234444889G>T	uc001hwa.1	+	3	672	c.444G>T	c.(442-444)AAG>AAT	p.K148N	SLC35F3_uc001hvy.1_Missense_Mutation_p.K217N	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	148					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)			TGACTTTGAAGGTGTTTTTTA	0.403												
ARID4B	51742	broad.mit.edu	37	1	235345681	235345681	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235345681T>C	uc001hwq.2	-	20	3051	c.2553A>G	c.(2551-2553)TCA>TCG	p.S851S	ARID4B_uc001hwr.2_Silent_p.S765S|ARID4B_uc001hws.3_Silent_p.S765S|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Silent_p.S532S	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCATGCAAAGTGATTCTTTGT	0.373												
B3GALNT2	148789	broad.mit.edu	37	1	235613631	235613631	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235613631T>C	uc001hxc.2	-	12	1622	c.1393A>G	c.(1393-1395)ACC>GCC	p.T465A		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	465	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTCTCACAGGTCTTCTCACAC	0.483												
LYST	1130	broad.mit.edu	37	1	235973006	235973006	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:235973006G>T	uc001hxj.2	-	5	1287	c.1112C>A	c.(1111-1113)CCT>CAT	p.P371H	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P371H	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	371					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAAGGGTCAGGCTGCTTTTC	0.378									Chediak-Higashi_syndrome			
NID1	4811	broad.mit.edu	37	1	236201424	236201424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236201424C>T	uc001hxo.2	-	5	1367	c.1265G>A	c.(1264-1266)GGC>GAC	p.G422D	NID1_uc009xgd.2_Missense_Mutation_p.G422D	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	422	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ACATTGCCTGCCATTGCCCGT	0.527												
HEATR1	55127	broad.mit.edu	37	1	236735796	236735796	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236735796T>C	uc001hyd.1	-	26	3747	c.3622A>G	c.(3622-3624)ACT>GCT	p.T1208A	HEATR1_uc009xgh.1_Missense_Mutation_p.T370A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1208					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGATGAGAGTTACTCTTTGC	0.398												
MTR	4548	broad.mit.edu	37	1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:236966835G>A	uc001hyi.3	+	2	565	c.142G>A	c.(142-144)GAA>AAA	p.E48K	MTR_uc010pxv.1_Intron|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.E48K|MTR_uc010pxy.1_Missense_Mutation_p.E48K	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463												
MTR	4548	broad.mit.edu	37	1	237054567	237054567	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:237054567G>A	uc001hyi.3	+	29	3565	c.3142G>A	c.(3142-3144)GCA>ACA	p.A1048T	MTR_uc010pxw.1_Missense_Mutation_p.A641T|MTR_uc010pxx.1_Missense_Mutation_p.A997T|MTR_uc010pxy.1_Missense_Mutation_p.A902T	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	1048	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCACCTGTACGCAGAGGCTGC	0.547												
RYR2	6262	broad.mit.edu	37	1	237955558	237955558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:237955558C>T	uc001hyl.1	+	94	13837	c.13717C>T	c.(13717-13719)CGT>TGT	p.R4573C	RYR2_uc010pyb.1_Missense_Mutation_p.R6C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4573					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCCACGTTGCGTATCTTAGC	0.443												
ZP4	57829	broad.mit.edu	37	1	238045775	238045775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:238045775A>G	uc001hym.2	-	12	1570	c.1570T>C	c.(1570-1572)TCC>CCC	p.S524P	LOC100130331_uc010pyc.1_RNA	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	524	Helical; (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCAAGTAGGATACTAACAAG	0.473												
EXO1	9156	broad.mit.edu	37	1	242020786	242020786	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:242020786T>C	uc001hzh.2	+	7	1083	c.543_splice	c.e7+2	p.K181_splice	EXO1_uc001hzi.2_Splice_Site_p.K181_splice|EXO1_uc001hzj.2_Splice_Site_p.K181_splice|EXO1_uc009xgq.2_Splice_Site_p.K181_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b						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)			TGTAAAAAGGTACTCACCTCT	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases				
HNRNPU	3192	broad.mit.edu	37	1	245021316	245021316	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:245021316A>G	uc001iaz.1	-	7	1709	c.1491T>C	c.(1489-1491)TGT>TGC	p.C497C	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.C221C|HNRNPU_uc001iba.1_Silent_p.C478C|HNRNPU_uc001ibb.1_Silent_p.C185C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	497					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCCTTACTTCACAATCTTTCT	0.373												
AHCTF1	25909	broad.mit.edu	37	1	247012967	247012967	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247012967T>C	uc001ibu.1	-	32	6348	c.6341A>G	c.(6340-6342)AAC>AGC	p.N2114S	AHCTF1_uc001ibv.1_Missense_Mutation_p.N2123S|AHCTF1_uc009xgs.1_Missense_Mutation_p.N975S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2114	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCTCATTGTTTGGTTCAGA	0.458												
NLRP3	114548	broad.mit.edu	37	1	247599444	247599444	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247599444T>C	uc001icr.2	+	8	2807	c.2669_splice	c.e8+2	p.G890_splice	NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Splice_Site_p.G890_splice|NLRP3_uc001icw.2_Splice_Site_p.G833_splice|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Splice_Site_p.G868_splice	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a						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)			GAAACTGGGGTAAGTCTTCAT	0.453												
OR2W5	441932	broad.mit.edu	37	1	247655201	247655201	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:247655201C>T	uc001icz.1	+	1	772	c.772C>T	c.(772-774)CGT>TGT	p.R258C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532												
DIP2C	22982	broad.mit.edu	37	10	410319	410319	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:410319C>T	uc001ifp.2	-	20	2562	c.2472G>A	c.(2470-2472)CGG>CGA	p.R824R	DIP2C_uc009xhi.1_Silent_p.R210R|DIP2C_uc010pzz.1_Silent_p.R145R	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	824						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGACCTTCCCCGGTAGACAA	0.522												
DIP2C	22982	broad.mit.edu	37	10	445160	445160	+	Splice_Site	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:445160C>A	uc001ifp.2	-	10	1240	c.1150_splice	c.e10-1	p.V384_splice	DIP2C_uc009xhj.1_Splice_Site_p.V80_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C							nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGTGCCACCTGTGGGACAG	0.627												
LARP4B	23185	broad.mit.edu	37	10	888953	888953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:888953C>T	uc001ifs.1	-	6	606	c.565G>A	c.(565-567)GTG>ATG	p.V189M		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	189	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						GTGATTGGCACATACTGGTCA	0.383												
PFKP	5214	broad.mit.edu	37	10	3147695	3147695	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:3147695T>C	uc001igp.2	+	7	810	c.774_splice	c.e7+2	p.E258_splice	PFKP_uc001igq.2_Splice_Site_p.E250_splice|PFKP_uc009xhr.2_Splice_Site_p.E220_splice|PFKP_uc009xhs.1_Splice_Site_p.E42_splice|PFKP_uc009xht.2_5'Flank	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						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)		CTCTCGGAGGTAATGCGGGTC	0.547												
AKR1C4	1109	broad.mit.edu	37	10	5254588	5254588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5254588C>T	uc001ihw.2	+	6	613	c.580C>T	c.(580-582)CAT>TAT	p.H194Y		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	194					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	GGTAGAATGTCATCCTTACCT	0.353												
C10orf18	54906	broad.mit.edu	37	10	5781988	5781988	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5781988A>G	uc001iij.2	+	13	2480	c.1855A>G	c.(1855-1857)AGC>GGC	p.S619G	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	619										ovary(1)|central_nervous_system(1)	2						AGATGAAGAAAGCTTGGTTCC	0.418												
C10orf18	54906	broad.mit.edu	37	10	5788345	5788345	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5788345G>A	uc001iij.2	+	15	3586	c.2961G>A	c.(2959-2961)CAG>CAA	p.Q987Q	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	987										ovary(1)|central_nervous_system(1)	2						CTGGCAGTCAGCCAGTGATAT	0.463												
C10orf18	54906	broad.mit.edu	37	10	5788629	5788629	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5788629T>C	uc001iij.2	+	15	3870	c.3245T>C	c.(3244-3246)TTG>TCG	p.L1082S	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1082										ovary(1)|central_nervous_system(1)	2						AAGAAGGAGTTGATTAAGCAA	0.433												
ANKRD16	54522	broad.mit.edu	37	10	5925938	5925938	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5925938T>C	uc010qat.1	-	4	1224	c.681A>G	c.(679-681)GAA>GAG	p.E227E	ANKRD16_uc009xie.2_Silent_p.E227E|ANKRD16_uc009xif.2_Silent_p.E227E|ANKRD16_uc001iiq.2_Silent_p.E227E	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16 isoform a	227	ANK 6.										0						ATACCCCATGTTCATCGAGGA	0.373												
FBXO18	84893	broad.mit.edu	37	10	5963252	5963252	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:5963252T>C	uc001iis.2	+	14	2227	c.2132T>C	c.(2131-2133)GTG>GCG	p.V711A	FBXO18_uc001iir.2_Missense_Mutation_p.V637A|FBXO18_uc009xig.2_Missense_Mutation_p.V637A|FBXO18_uc001iit.2_Missense_Mutation_p.V762A	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	711					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ATAGCTTATGTGGGAGCTACT	0.453												
PFKFB3	5209	broad.mit.edu	37	10	6257276	6257276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:6257276C>T	uc001ije.2	+	3	679	c.295C>T	c.(295-297)CGG>TGG	p.R99W	PFKFB3_uc001ijd.2_Missense_Mutation_p.R79W|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R113W|PFKFB3_uc001ijf.2_Missense_Mutation_p.R99W	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	99	6-phosphofructo-2-kinase.	Fructose-6-phosphate (By similarity).			fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CATGAAAGTCCGGAAGTAAgg	0.299												
USP6NL	9712	broad.mit.edu	37	10	11535138	11535138	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:11535138A>G	uc001ikt.3	-	8	795	c.474T>C	c.(472-474)TTT>TTC	p.F158F	USP6NL_uc001iks.1_Silent_p.F175F	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	158	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						ATCTGTCTCTAAACATAATGT	0.338												
OPTN	10133	broad.mit.edu	37	10	13166057	13166057	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:13166057G>T	uc001ilu.1	+	10	1383	c.945G>T	c.(943-945)GAG>GAT	p.E315D	OPTN_uc001ilv.1_Missense_Mutation_p.E315D|OPTN_uc001ilw.1_Missense_Mutation_p.E315D|OPTN_uc001ilx.1_Missense_Mutation_p.E315D|OPTN_uc001ily.1_Missense_Mutation_p.E309D|OPTN_uc010qbr.1_Missense_Mutation_p.E258D|OPTN_uc001ilz.1_Missense_Mutation_p.E309D	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	315	Potential.				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						AGCTTCAAGAGGCTCATACAA	0.383												
PHYH	5264	broad.mit.edu	37	10	13337526	13337526	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:13337526A>G	uc001imf.2	-	3	303	c.215T>C	c.(214-216)CTT>CCT	p.L72P	PHYH_uc001ime.2_5'UTR|PHYH_uc001img.2_Missense_Mutation_p.L53P	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	72					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ATCAGGTACAAGATTTTTGAT	0.333												
FAM171A1	221061	broad.mit.edu	37	10	15325918	15325918	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15325918T>C	uc001iob.2	-	2	291	c.284A>G	c.(283-285)TAC>TGC	p.Y95C		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	95	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GTTTGGCACGTAGGCATGCTT	0.493												
ITGA8	8516	broad.mit.edu	37	10	15720763	15720763	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15720763G>A	uc001ioc.1	-	5	588	c.588C>T	c.(586-588)GGC>GGT	p.G196G	ITGA8_uc010qcb.1_Silent_p.G196G	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	196	FG-GAP 3.|Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						AGTAACCCTGGCCTTCCGGAT	0.328												
FAM188A	80013	broad.mit.edu	37	10	15875660	15875660	+	Silent	SNP	T	T	C	rs150118445		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:15875660T>C	uc001iod.1	-	8	920	c.699A>G	c.(697-699)GTA>GTG	p.V233V	FAM188A_uc001ioe.1_Silent_p.V60V|FAM188A_uc001iof.1_Silent_p.V233V	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	chromosome 10 open reading frame 97	233					apoptosis	nucleus	calcium ion binding			ovary(1)	1						CACCATCCCATACATTAGAAA	0.279												
CUBN	8029	broad.mit.edu	37	10	16967691	16967691	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:16967691A>G	uc001ioo.2	-	42	6406	c.6354T>C	c.(6352-6354)TGT>TGC	p.C2118C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2118	CUB 15.				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)	CGTGCCAAGAACAGTTGAGGT	0.493												
PLXDC2	84898	broad.mit.edu	37	10	20453414	20453414	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:20453414A>G	uc001iqg.1	+	7	1438	c.801A>G	c.(799-801)ACA>ACG	p.T267T	PLXDC2_uc001iqh.1_Silent_p.T218T|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	267	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						TCTTGGTCACACAGATAAGTT	0.418												
C10orf140	387640	broad.mit.edu	37	10	21805019	21805019	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:21805019G>C	uc009xkd.2	-	4	3986	c.1733C>G	c.(1732-1734)GCC>GGC	p.A578G	uc001iqp.1_Intron	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	497						nucleus	nucleotide binding			ovary(1)	1						AGGTGAAGAGGCCCCCTCTGC	0.443												
ARHGAP21	57584	broad.mit.edu	37	10	24909045	24909045	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:24909045C>T	uc001isb.2	-	9	2266	c.1779G>A	c.(1777-1779)TTG>TTA	p.L593L	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Silent_p.L593L|ARHGAP21_uc010qdc.1_Silent_p.L428L|ARHGAP21_uc001isc.1_Silent_p.L583L	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	592					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						TGTTTGACTGCAATGTTTTTA	0.423												
ARHGAP21	57584	broad.mit.edu	37	10	24910013	24910013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:24910013C>T	uc001isb.2	-	9	1298	c.811G>A	c.(811-813)GTA>ATA	p.V271I	ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.V271I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.V106I|ARHGAP21_uc001isc.1_Missense_Mutation_p.V261I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	270					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8						ACAGTCCTTACACTTTCATTG	0.418												
KIAA1462	57608	broad.mit.edu	37	10	30315149	30315149	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:30315149G>A	uc001iux.2	-	2	3987	c.3928C>T	c.(3928-3930)CGT>TGT	p.R1310C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						CTCTGGGCACGGTCCCCACTG	0.617												
MTPAP	55149	broad.mit.edu	37	10	30615351	30615351	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:30615351A>G	uc001iva.3	-	5	1055	c.992_splice	c.e5+1	p.R331_splice	MTPAP_uc001ivb.3_Splice_Site_p.R461_splice	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAGCGGTCATACCTATTGTTC	0.388												
ZNF438	220929	broad.mit.edu	37	10	31134236	31134236	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:31134236T>C	uc010qdz.1	-	8	2576	c.2141A>G	c.(2140-2142)CAT>CGT	p.H714R	ZNF438_uc001ivn.2_Missense_Mutation_p.H665R|ZNF438_uc010qdy.1_Missense_Mutation_p.H704R|ZNF438_uc001ivo.3_Missense_Mutation_p.H278R|ZNF438_uc009xlg.2_Missense_Mutation_p.H714R|ZNF438_uc001ivp.3_Missense_Mutation_p.H704R|ZNF438_uc010qea.1_Missense_Mutation_p.H714R|ZNF438_uc010qeb.1_Missense_Mutation_p.H714R	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				GGAGGAGGAATGAACCTTCTC	0.547												
ZNF438	220929	broad.mit.edu	37	10	31138295	31138295	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:31138295G>A	uc010qdz.1	-	7	1474	c.1039C>T	c.(1039-1041)CCT>TCT	p.P347S	ZNF438_uc001ivn.2_Missense_Mutation_p.P298S|ZNF438_uc010qdy.1_Missense_Mutation_p.P337S|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.P347S|ZNF438_uc001ivp.3_Missense_Mutation_p.P337S|ZNF438_uc010qea.1_Missense_Mutation_p.P347S|ZNF438_uc010qeb.1_Missense_Mutation_p.P347S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				TGTGGAACAGGTAGCCTGCTT	0.488												
PARD3	56288	broad.mit.edu	37	10	34620079	34620079	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:34620079G>A	uc010qej.1	-	19	2808	c.2808C>T	c.(2806-2808)CCC>CCT	p.P936P	PARD3_uc010qek.1_Silent_p.P933P|PARD3_uc010qel.1_Silent_p.P936P|PARD3_uc010qem.1_Silent_p.P920P|PARD3_uc010qen.1_Silent_p.P890P|PARD3_uc010qeo.1_Silent_p.P890P|PARD3_uc010qep.1_Silent_p.P846P|PARD3_uc010qeq.1_Silent_p.P861P|PARD3_uc001ixo.1_Silent_p.P649P|PARD3_uc001ixp.1_Silent_p.P767P|PARD3_uc001ixq.1_Silent_p.P890P|PARD3_uc001ixr.1_Silent_p.P933P|PARD3_uc001ixt.1_Silent_p.P754P|PARD3_uc001ixu.1_Silent_p.P878P|PARD3_uc001ixs.1_Silent_p.P559P	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	936	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				CATCTACCGCGGGTTTATCAT	0.388												
ZNF33A	7581	broad.mit.edu	37	10	38345137	38345137	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:38345137C>T	uc001izh.2	+	5	2260	c.2082C>T	c.(2080-2082)TGC>TGT	p.C694C	ZNF33A_uc001izg.2_Silent_p.C695C|ZNF33A_uc010qev.1_Silent_p.C701C|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	694	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CCTATGAATGCAATGAATGTG	0.383												
ALOX5	240	broad.mit.edu	37	10	45891350	45891350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:45891350C>T	uc001jce.2	+	3	496	c.397C>T	c.(397-399)CGT>TGT	p.R133C	ALOX5_uc009xmt.2_Missense_Mutation_p.R133C|ALOX5_uc010qfg.1_Missense_Mutation_p.R133C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	133	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCAACACCGACGTAAAGAACT	0.448												
GDF2	2658	broad.mit.edu	37	10	48413624	48413624	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:48413624T>C	uc001jfa.1	-	2	1407	c.1244A>G	c.(1243-1245)AAG>AGG	p.K415R		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	415					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GTAATGGTACTTGAGGGTGGG	0.612												
FRMPD2	143162	broad.mit.edu	37	10	49450347	49450347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:49450347C>T	uc001jgi.2	-	5	531	c.424G>A	c.(424-426)GAA>AAA	p.E142K	FRMPD2_uc001jgh.2_Missense_Mutation_p.E111K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E120K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	142	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GGCTGGTCTTCACACATGGTC	0.612												
C10orf71	118461	broad.mit.edu	37	10	50531160	50531160	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50531160T>C	uc010qgp.1	+	3	909	c.570T>C	c.(568-570)TCT>TCC	p.S190S		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	190											0						GCTTCGATTCTGCCTTTCTGA	0.542												
PGBD3	267004	broad.mit.edu	37	10	50723435	50723435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50723435C>T	uc001jht.2	-	2	1981	c.1726G>A	c.(1726-1728)GAA>AAA	p.E576K	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.E1044K|PGBD3_uc001jhu.2_Missense_Mutation_p.E1044K	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	576										pancreas(1)|breast(1)|skin(1)	3						TCACATTTTTCACATCGAAAA	0.383												
SLC18A3	6572	broad.mit.edu	37	10	50820315	50820315	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50820315A>T	uc001jhw.2	+	1	1969	c.1529A>T	c.(1528-1530)GAG>GTG	p.E510V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	510	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CAGGACGGCGAGCCTCGCAGC	0.647												
OGDHL	55753	broad.mit.edu	37	10	50954898	50954898	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:50954898G>A	uc001jie.2	-	10	1336	c.1194C>T	c.(1192-1194)GAC>GAT	p.D398D	OGDHL_uc009xog.2_Silent_p.D425D|OGDHL_uc010qgt.1_Silent_p.D341D|OGDHL_uc010qgu.1_Silent_p.D189D|OGDHL_uc009xoh.2_Silent_p.D189D	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	398					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						CAAAGGCGGCGTCCCCATGAA	0.632												
MBL2	4153	broad.mit.edu	37	10	54527904	54527904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:54527904G>A	uc001jjt.2	-	4	805	c.740C>T	c.(739-741)CCT>CTT	p.P247L		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	247					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						CCTTCAGATAGGGAACTCACA	0.453												
IPMK	253430	broad.mit.edu	37	10	59986902	59986902	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:59986902T>C	uc001jkb.2	-	3	600	c.277_splice	c.e3-1	p.V93_splice		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase							nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1						AGCATAAACCTGAAACAGAGA	0.358												
SLC16A9	220963	broad.mit.edu	37	10	61414085	61414085	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61414085A>G	uc010qig.1	-	5	1148	c.699T>C	c.(697-699)AGT>AGC	p.S233S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	233	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						TTTCCTCACTACTGTAGCTCT	0.378												
CCDC6	8030	broad.mit.edu	37	10	61564176	61564176	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61564176A>G	uc001jks.3	-	7	1741	c.1105_splice	c.e7+1	p.G369_splice		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6							cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		ACATATGCTCACCAGGTGATA	0.453												
ANK3	288	broad.mit.edu	37	10	61815518	61815518	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61815518A>G	uc001jky.2	-	42	13155	c.12963T>C	c.(12961-12963)TGT>TGC	p.C4321C	ANK3_uc001jkw.2_Silent_p.C945C|ANK3_uc009xpa.2_Silent_p.C945C|ANK3_uc001jkx.2_Silent_p.C989C|ANK3_uc010qih.1_Silent_p.C1812C|ANK3_uc001jkz.3_Silent_p.C1805C|ANK3_uc001jkv.2_Silent_p.C344C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4321					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGACAGGCACACAGGGTTTAG	0.458												
ANK3	288	broad.mit.edu	37	10	61835896	61835896	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:61835896T>C	uc001jky.2	-	37	4935	c.4743A>G	c.(4741-4743)ATA>ATG	p.I1581M	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	1581	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CCACAGTTTTTATCGGCGAAG	0.463												
ZNF365	22891	broad.mit.edu	37	10	64414648	64414648	+	Silent	SNP	G	G	A	rs145414368	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64414648G>A	uc001jmd.1	+	3	418	c.84G>A	c.(82-84)CTG>CTA	p.L28L	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_RNA	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	28										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					atccttgcctgcacggagctt	0.01												
EGR2	1959	broad.mit.edu	37	10	64573060	64573060	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64573060G>A	uc010qim.1	-	3	1492	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G	EGR2_uc010qin.1_Silent_p.G396G|EGR2_uc001jmi.2_Silent_p.G446G|EGR2_uc010qio.1_Silent_p.G459G|EGR2_uc009xph.2_Silent_p.G446G	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	446					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGGCTGCACGCCCCCAGAGC	0.642												
JMJD1C	221037	broad.mit.edu	37	10	64966934	64966934	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:64966934C>T	uc001jmn.2	-	10	4795	c.4495G>A	c.(4495-4497)GCC>ACC	p.A1499T	JMJD1C_uc001jml.2_Missense_Mutation_p.A1280T|JMJD1C_uc001jmm.2_Missense_Mutation_p.A1211T|JMJD1C_uc010qiq.1_Missense_Mutation_p.A1317T|JMJD1C_uc009xpi.2_Missense_Mutation_p.A1317T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.A536T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1499					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCTCACTGGCATTACTACTT	0.403												
JMJD1C	221037	broad.mit.edu	37	10	65140188	65140188	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:65140188A>G	uc001jmn.2	-	2	523	c.223T>C	c.(223-225)TAT>CAT	p.Y75H	JMJD1C_uc009xpi.2_5'UTR|JMJD1C_uc001jmr.1_Missense_Mutation_p.Y75H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	75					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATCTTCATAAACTTTAACC	0.368												
HERC4	26091	broad.mit.edu	37	10	69682730	69682730	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:69682730C>T	uc001jng.3	-	26	3443	c.3132G>A	c.(3130-3132)CTG>CTA	p.L1044L	HERC4_uc009xpq.2_Silent_p.L576L|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.L1036L|HERC4_uc009xpr.2_Silent_p.L966L|HERC4_uc001jni.3_Silent_p.L780L	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	1044	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TAGCTTGGATCAGTTTAGAGC	0.348												
DNA2	1763	broad.mit.edu	37	10	70231557	70231557	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70231557G>T	uc001jof.2	-	1	323	c.323C>A	c.(322-324)CCG>CAG	p.P108Q	DNA2_uc001jog.1_Missense_Mutation_p.P22Q|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	22					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						CAGCTCCGCCGGCAGCTCCGC	0.607												
TET1	80312	broad.mit.edu	37	10	70406352	70406352	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70406352C>T	uc001jok.3	+	4	4371	c.3866C>T	c.(3865-3867)ACG>ATG	p.T1289M		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1289					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			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GTACAGTTAACGGTGAATGCC	0.453												
STOX1	219736	broad.mit.edu	37	10	70644585	70644585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70644585C>T	uc001jos.2	+	3	1120	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Nonsense_Mutation_p.R235*	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	345						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						ATGGCCCGTCCGAGATGAAGA	0.423												
HKDC1	80201	broad.mit.edu	37	10	71018574	71018574	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:71018574T>C	uc001jpf.3	+	15	2208	c.2075T>C	c.(2074-2076)ATC>ACC	p.I692T	HKDC1_uc010qje.1_Missense_Mutation_p.I555T|HKDC1_uc009xqb.2_RNA	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	692					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						ATGAGGAACATCGAGATGGTG	0.468												
COL13A1	1305	broad.mit.edu	37	10	71562400	71562400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:71562400G>A	uc001jpr.1	+	1	757	c.221G>A	c.(220-222)CGC>CAC	p.R74H	COL13A1_uc001jqj.1_Missense_Mutation_p.R74H|COL13A1_uc001jps.1_Missense_Mutation_p.R74H|COL13A1_uc001jpt.1_Missense_Mutation_p.R74H|COL13A1_uc001jpu.1_Missense_Mutation_p.R74H|COL13A1_uc001jpv.1_Missense_Mutation_p.R74H|COL13A1_uc001jpx.1_Missense_Mutation_p.R74H|COL13A1_uc001jpw.1_Missense_Mutation_p.R74H|COL13A1_uc001jpy.1_Missense_Mutation_p.R74H|COL13A1_uc001jpz.1_Missense_Mutation_p.R74H|COL13A1_uc001jqa.1_Missense_Mutation_p.R74H|COL13A1_uc001jqc.1_Missense_Mutation_p.R74H|COL13A1_uc001jqb.1_Missense_Mutation_p.R74H|COL13A1_uc001jql.2_Missense_Mutation_p.R74H|COL13A1_uc001jqd.1_Missense_Mutation_p.R74H|COL13A1_uc001jqe.1_Missense_Mutation_p.R74H|COL13A1_uc001jqf.1_Missense_Mutation_p.R74H|COL13A1_uc001jqg.1_Missense_Mutation_p.R74H|COL13A1_uc001jqh.1_Missense_Mutation_p.R74H|COL13A1_uc001jqi.1_Missense_Mutation_p.R74H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	74	Extracellular (Potential).|Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGGGTGCTGCGCCTGGAAGCG	0.637												
SGPL1	8879	broad.mit.edu	37	10	72628142	72628142	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:72628142A>G	uc001jrm.2	+	8	878	c.656A>G	c.(655-657)AAA>AGA	p.K219R	SGPL1_uc009xqk.2_5'Flank	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	219	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	ATGGCCTGCAAAGCATATCGG	0.478												
CCDC109A	90550	broad.mit.edu	37	10	74631136	74631136	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:74631136T>C	uc001jtc.2	+	6	680	c.659T>C	c.(658-660)GTA>GCA	p.V220A	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Missense_Mutation_p.V199A|CCDC109A_uc001jtd.2_Missense_Mutation_p.V171A	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	220	Potential.|Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					GCCCAATAGGTACGAATTGAG	0.428												
KIAA0913	23053	broad.mit.edu	37	10	75554018	75554018	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75554018A>G	uc009xrl.2	+	13	2771	c.2739A>G	c.(2737-2739)ACA>ACG	p.T913T	KIAA0913_uc001jve.2_Silent_p.T913T|KIAA0913_uc001jvf.2_Silent_p.T913T|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.T336T|KIAA0913_uc010qkr.1_Silent_p.T336T|KIAA0913_uc001jvj.2_Silent_p.T336T	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	913							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGGAGGGGACACTCTGTGACT	0.567												
KIAA0913	23053	broad.mit.edu	37	10	75557598	75557598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75557598C>T	uc009xrl.2	+	19	3739	c.3707C>T	c.(3706-3708)GCA>GTA	p.A1236V	KIAA0913_uc001jve.2_Missense_Mutation_p.A1241V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1236V|KIAA0913_uc001jvh.2_Intron|KIAA0913_uc001jvi.2_Missense_Mutation_p.A671V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A659V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A659V|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1236							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					CCATCAGAGGCAGCTGCACAC	0.587												
CAMK2G	818	broad.mit.edu	37	10	75576611	75576611	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75576611T>C	uc001jvv.1	-	19	1708	c.1584A>G	c.(1582-1584)GCA>GCG	p.A528A	CAMK2G_uc001jvm.1_Intron|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Intron|CAMK2G_uc001jvs.1_Intron|CAMK2G_uc001jvt.1_Intron|CAMK2G_uc001jvu.1_Intron|CAMK2G_uc009xrp.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	Error:Variant_position_missing_in_Q13555_after_alignment					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CCTTCAAAGGTGCCTGTCTAC	0.502												
CAMK2G	818	broad.mit.edu	37	10	75609032	75609032	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75609032T>C	uc001jvv.1	-	6	501	c.377A>G	c.(376-378)CAC>CGC	p.H126R	CAMK2G_uc001jvm.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvo.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvq.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvr.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvp.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvs.1_Missense_Mutation_p.H134R|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.H112R|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	134	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CAGGTCCCTGTGGACGATGTC	0.512											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AP3M1	26985	broad.mit.edu	37	10	75897994	75897994	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:75897994G>A	uc001jwf.2	-	2	574	c.144C>T	c.(142-144)GTC>GTT	p.V48V	AP3M1_uc001jwg.2_Silent_p.V48V|AP3M1_uc001jwh.2_Silent_p.V48V|AP3M1_uc010qla.1_Silent_p.V48V	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	48					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					GTGTTGAAATGACAGGTGGTA	0.433												
MYST4	23522	broad.mit.edu	37	10	76789593	76789593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:76789593G>A	uc001jwn.1	+	18	5504	c.5011G>A	c.(5011-5013)GGC>AGC	p.G1671S	MYST4_uc001jwo.1_Missense_Mutation_p.G1379S|MYST4_uc001jwp.1_Missense_Mutation_p.G1488S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1671	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)					TAGTGACCTGGGCAGTATCGA	0.488			T	CREBBP	AML							
DUPD1	338599	broad.mit.edu	37	10	76818210	76818210	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:76818210C>T	uc001jwq.1	-	1	63	c.63G>A	c.(61-63)TCG>TCA	p.S21S		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	21						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCATCTTCGGCGACAGCCTCT	0.557												
POLR3A	11128	broad.mit.edu	37	10	79745739	79745739	+	Missense_Mutation	SNP	C	C	T	rs139665002	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:79745739C>T	uc001jzn.2	-	23	3087	c.2993G>A	c.(2992-2994)CGT>CAT	p.R998H		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	998					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|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTACAGCACACGGGGCTGGGA	0.527												
ZMIZ1	57178	broad.mit.edu	37	10	81050715	81050715	+	Splice_Site	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81050715G>T	uc001kaf.2	+	10	1113	c.541_splice	c.e10-1	p.V181_splice	ZMIZ1_uc001kag.2_Splice_Site_p.V57_splice|ZMIZ1_uc001kah.1_Splice_Site_p.V57_splice	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17						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)			TCTGCCCACAGGTCCTTGGGA	0.567												
ZMIZ1	57178	broad.mit.edu	37	10	81058191	81058191	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81058191A>G	uc001kaf.2	+	15	2092	c.1520A>G	c.(1519-1521)TAC>TGC	p.Y507C	ZMIZ1_uc001kag.2_Missense_Mutation_p.Y383C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	507	Pro-rich.				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)			GTGGCAAATTACCCCCACTCA	0.587												
C10orf57	80195	broad.mit.edu	37	10	81841641	81841641	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:81841641G>A	uc001kbl.2	+	2	162	c.132G>A	c.(130-132)GGG>GGA	p.G44G	LOC219347_uc001kbk.2_5'Flank|LOC219347_uc001kbi.3_5'Flank|LOC219347_uc009xsk.2_5'Flank|LOC219347_uc009xsl.2_5'Flank|LOC219347_uc009xsm.2_5'Flank|LOC219347_uc001kbj.3_5'Flank|C10orf57_uc009xsn.2_Missense_Mutation_p.G76D|C10orf57_uc010qlv.1_Silent_p.G68G|C10orf57_uc010qlw.1_Silent_p.G68G|C10orf57_uc001kbn.3_RNA|C10orf57_uc009xsp.2_RNA|C10orf57_uc001kbo.3_RNA	NM_025125	NP_079401	Q8TBM7	CJ057_HUMAN	hypothetical protein LOC80195	44						integral to membrane					0	Prostate(51;0.0095)|all_epithelial(25;0.175)		Epithelial(14;0.0793)|Colorectal(32;0.109)|all cancers(16;0.154)			AGAACCTTGGGCCCCTGGGCC	0.507												
BMPR1A	657	broad.mit.edu	37	10	88677075	88677075	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:88677075A>G	uc001kdy.2	+	9	1408	c.860A>G	c.(859-861)AAC>AGC	p.N287S		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	287	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						CGCCATGAAAACATACTTGGT	0.433			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis			
AGAP11	119385	broad.mit.edu	37	10	88768861	88768861	+	Silent	SNP	G	G	A	rs17096676	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:88768861G>A	uc001kee.2	+	12	2056	c.852G>A	c.(850-852)ACG>ACA	p.T284T	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	284	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CTGGCCAAACGTGCCACTTTA	0.498												
MINPP1	9562	broad.mit.edu	37	10	89265036	89265036	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:89265036A>G	uc001keu.2	+	1	814	c.364A>G	c.(364-366)ACC>GCC	p.T122A	MINPP1_uc009xtf.1_RNA|MINPP1_uc001kev.2_Missense_Mutation_p.T122A	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	multiple inositol polyphosphate histidine	122					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			urinary_tract(1)	1		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGCTAGTAGTACCGGCAGCCG	0.672											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RNLS	55328	broad.mit.edu	37	10	90122340	90122340	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:90122340G>A	uc001kfe.2	-	5	804	c.669C>T	c.(667-669)TTC>TTT	p.F223F	RNLS_uc010qms.1_Silent_p.F140F|RNLS_uc001kfd.2_Silent_p.F223F|RNLS_uc009xtj.2_Silent_p.F55F	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	223						extracellular region	oxidoreductase activity			ovary(1)	1						CAATGGAGACGAAGCGTATGC	0.438												
LIPK	643414	broad.mit.edu	37	10	90492016	90492016	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:90492016C>T	uc010qmv.1	+	4	504	c.504C>T	c.(502-504)TAC>TAT	p.Y168Y		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	168					lipid catabolic process	extracellular region	hydrolase activity	p.Y168Y(1)		ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		GACTCTACTACGTGGGCCACT	0.428												
IFIT2	3433	broad.mit.edu	37	10	91066703	91066703	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:91066703T>C	uc009xts.2	+	2	1165	c.990T>C	c.(988-990)AAT>AAC	p.N330N	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	330					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				ATGAGGCCAATGATAATCTCT	0.413												
HTR7	3363	broad.mit.edu	37	10	92617294	92617294	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:92617294C>T	uc001kha.2	-	1	378	c.135G>A	c.(133-135)GCG>GCA	p.A45A	HTR7_uc001kgz.2_Silent_p.A45A|HTR7_uc001khb.2_Silent_p.A45A	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	45	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GCAGGTGCGGCGCCCAGGAGC	0.716												
TNKS2	80351	broad.mit.edu	37	10	93609348	93609348	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:93609348A>G	uc001khp.2	+	20	2988	c.2691A>G	c.(2689-2691)GAA>GAG	p.E897E		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	897	SAM.				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)				TTGAGAGAGAACAGGTGAGTA	0.338												
IDE	3416	broad.mit.edu	37	10	94268556	94268556	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:94268556G>T	uc001kia.2	-	7	1065	c.989C>A	c.(988-990)CCT>CAT	p.P330H		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	330					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATAATGACCAGGATTTGATTT	0.393												
MYOF	26509	broad.mit.edu	37	10	95121229	95121229	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:95121229T>C	uc001kin.2	-	28	3077	c.2954A>G	c.(2953-2955)AAT>AGT	p.N985S	MYOF_uc001kio.2_Missense_Mutation_p.N972S|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	985	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CACCGCTCGATTTATGTCATA	0.473												
PLCE1	51196	broad.mit.edu	37	10	95790955	95790955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:95790955C>T	uc001kjk.2	+	2	786	c.152C>T	c.(151-153)TCT>TTT	p.S51F	PLCE1_uc010qnx.1_Missense_Mutation_p.S51F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	51					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GGGGAGACTTCTCATACCATC	0.423												
PLCE1	51196	broad.mit.edu	37	10	96039591	96039591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96039591A>G	uc001kjk.2	+	20	5352	c.4718A>G	c.(4717-4719)AAC>AGC	p.N1573S	PLCE1_uc010qnx.1_Missense_Mutation_p.N1557S|PLCE1_uc001kjm.2_Missense_Mutation_p.N1265S|uc001kjo.1_RNA	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1573					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GGGAATGCCAACCCCCGACCT	0.413											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NOC3L	64318	broad.mit.edu	37	10	96109868	96109868	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96109868A>G	uc001kjq.1	-	9	1216	c.1128_splice	c.e9+1	p.L376_splice	NOC3L_uc009xuk.1_Splice_Site_p.L161_splice	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				ACAGCAACTCACCAATTTTGA	0.299												
HELLS	3070	broad.mit.edu	37	10	96350527	96350527	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:96350527A>G	uc001kjt.2	+	15	1866	c.1761A>G	c.(1759-1761)GAA>GAG	p.E587E	HELLS_uc001kjs.2_Silent_p.E571E|HELLS_uc009xul.2_Silent_p.E489E|HELLS_uc009xum.2_Silent_p.E457E|HELLS_uc009xun.2_Silent_p.E463E|HELLS_uc009xuo.2_Silent_p.E633E|HELLS_uc001kju.2_Silent_p.E226E|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.E449E|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	587					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTACACAAGAATTTAAGGTGA	0.259												
TLL2	7093	broad.mit.edu	37	10	98192586	98192586	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:98192586G>A	uc001kml.1	-	4	724	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	TLL2_uc009xvf.1_Intron	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	166	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCCAATGACGTAGGGGATGA	0.567												
CRTAC1	55118	broad.mit.edu	37	10	99683046	99683046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:99683046C>T	uc001kou.1	-	4	889	c.533G>A	c.(532-534)CGC>CAC	p.R178H	CRTAC1_uc001kov.2_Missense_Mutation_p.R167H|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	178						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCCACAGAGCGTCCGGCAAA	0.592												
C10orf28	27291	broad.mit.edu	37	10	99969347	99969347	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:99969347T>C	uc001kow.3	+	4	1771	c.1476T>C	c.(1474-1476)AGT>AGC	p.S492S	C10orf28_uc001kox.3_Silent_p.S492S|C10orf28_uc001koy.3_Silent_p.S492S|C10orf28_uc009xvx.2_Silent_p.S492S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	492							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CTGAACTCAGTATGTTAAATG	0.413												
COX15	1355	broad.mit.edu	37	10	101487291	101487291	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:101487291T>A	uc001kqb.3	-	3	919	c.302A>T	c.(301-303)GAT>GTT	p.D101V	COX15_uc001kqc.3_Missense_Mutation_p.D101V|COX15_uc010qpj.1_5'UTR	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	101					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)		TAAATGCCAATCTACCATCGA	0.403												
PAX2	5076	broad.mit.edu	37	10	102566235	102566235	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102566235A>G	uc001krk.3	+	7	1284	c.734A>G	c.(733-735)GAC>GGC	p.D245G	PAX2_uc001krl.3_Missense_Mutation_p.D222G|PAX2_uc001krm.3_Missense_Mutation_p.D245G|PAX2_uc001kro.3_Missense_Mutation_p.D222G|PAX2_uc001krn.3_Missense_Mutation_p.D222G|PAX2_uc010qps.1_Missense_Mutation_p.D221G|PAX2_uc001krp.1_Missense_Mutation_p.D218G	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	245					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				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGTGGTGTGGACAGTTTGCGG	0.582												
FAM178A	55719	broad.mit.edu	37	10	102684471	102684471	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102684471A>G	uc001krt.3	+	5	2255	c.1713A>G	c.(1711-1713)GCA>GCG	p.A571A	FAM178A_uc001krr.1_Silent_p.A571A|FAM178A_uc001krs.2_Silent_p.A571A|FAM178A_uc001kru.1_Silent_p.A506A	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	571											0						GCCCTGCAGCACCTTCAGATA	0.478												
LZTS2	84445	broad.mit.edu	37	10	102762542	102762542	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:102762542G>T	uc001ksj.2	+	2	316	c.247G>T	c.(247-249)GTC>TTC	p.V83F	LZTS2_uc010qpw.1_Missense_Mutation_p.V83F|LZTS2_uc001ksk.2_Missense_Mutation_p.V83F|LZTS2_uc001ksl.2_Missense_Mutation_p.V83F|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	83	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TAGGAAGGCTGTCCCTGTCAC	0.637												
C10orf76	79591	broad.mit.edu	37	10	103717427	103717427	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:103717427T>A	uc009xwy.1	-	21	1660	c.1558A>T	c.(1558-1560)ATT>TTT	p.I520F	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	520	Helical; (Potential).					integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AATGTAAAAATGTTGTGTTTG	0.343												
PPRC1	23082	broad.mit.edu	37	10	103899979	103899979	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:103899979A>G	uc001kum.2	+	5	1753	c.1714A>G	c.(1714-1716)ACC>GCC	p.T572A	PPRC1_uc001kun.2_Missense_Mutation_p.T452A|PPRC1_uc010qqj.1_Missense_Mutation_p.T572A|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCTATACCAACCCATCTCTC	0.527												
C10orf95	79946	broad.mit.edu	37	10	104211207	104211207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104211207C>T	uc001kvo.1	-	1	94	c.19G>A	c.(19-21)GCT>ACT	p.A7T	uc001kvp.1_Missense_Mutation_p.A35V|uc001kvq.1_Intron|uc001kvr.1_5'Flank	NM_024886	NP_079162	Q9H7T3	CJ095_HUMAN	hypothetical protein LOC79946	7										liver(1)	1		Colorectal(252;0.207)		Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213)		CACTTTGTAGCTGCGTTGCTC	0.622												
SFXN2	118980	broad.mit.edu	37	10	104491950	104491950	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104491950G>A	uc001kwb.2	+	8	862	c.696G>A	c.(694-696)CGG>CGA	p.R232R	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	232	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TTATTTCTCGGATCACCATGT	0.512												
SFXN2	118980	broad.mit.edu	37	10	104497475	104497475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104497475T>C	uc001kwb.2	+	12	1091	c.925T>C	c.(925-927)TAT>CAT	p.Y309H	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	309					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAGGCCAAGTATGGAGAACT	0.463												
CYP17A1	1586	broad.mit.edu	37	10	104591290	104591290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104591290C>T	uc001kwg.2	-	7	1390	c.1218G>A	c.(1216-1218)TGG>TGA	p.W406*	C10orf26_uc009xxg.1_Intron	NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	406			W -> R (in AH5).		androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCGGCTGGTGCCACTCCTTCT	0.577												
CNNM2	54805	broad.mit.edu	37	10	104679214	104679214	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:104679214T>C	uc001kwm.2	+	1	1101	c.977T>C	c.(976-978)GTC>GCC	p.V326A	CNNM2_uc001kwn.2_Missense_Mutation_p.V326A|CNNM2_uc001kwl.2_Missense_Mutation_p.V326A	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	326	DUF21.|Helical; (Potential).				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AACGTGCTGGTCAACACCACG	0.622												
PDCD11	22984	broad.mit.edu	37	10	105182764	105182764	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:105182764G>A	uc001kwy.1	+	18	2604	c.2517G>A	c.(2515-2517)ACG>ACA	p.T839T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATCCAGACGCTGGCCGAGA	0.527												
SORCS3	22986	broad.mit.edu	37	10	106974273	106974273	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:106974273C>A	uc001kyi.1	+	18	2676	c.2449C>A	c.(2449-2451)CCT>ACT	p.P817T	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	817	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAGATGTGCCCTGGAAAAGC	0.557												
DUSP5	1847	broad.mit.edu	37	10	112258064	112258064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112258064C>T	uc001kzd.2	+	1	440	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	62	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		gcggTGTCGGCGCGCTACGTG	0.657												
ADRA2A	150	broad.mit.edu	37	10	112838169	112838169	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112838169C>A	uc001kzo.2	+	1	1380	c.415C>A	c.(415-417)CTG>ATG	p.L139M		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	124	Helical; Name=3; (By similarity).			L -> P (in Ref. 13).	actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CATCGTGCACCTGTGCGCCAT	0.612												
GPAM	57678	broad.mit.edu	37	10	113913352	113913352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:113913352G>A	uc009xxy.1	-	22	2641	c.2443C>T	c.(2443-2445)CGA>TGA	p.R815*	GPAM_uc001kzp.2_Nonsense_Mutation_p.R815*	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	815	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		AGTTTTTGTCGGTTGCATTGA	0.383												
NRAP	4892	broad.mit.edu	37	10	115355426	115355426	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115355426G>T	uc001laj.2	-	38	4656	c.4492C>A	c.(4492-4494)CCC>ACC	p.P1498T	NRAP_uc009xyb.2_Missense_Mutation_p.P287T|NRAP_uc001lak.2_Missense_Mutation_p.P1463T|NRAP_uc001lal.3_Missense_Mutation_p.P1498T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1498	Nebulin 40.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAAATCGGGATGGTCGGGG	0.493												
DCLRE1A	9937	broad.mit.edu	37	10	115612525	115612525	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115612525C>A	uc001law.2	-	1	1335	c.417G>T	c.(415-417)TGG>TGT	p.W139C	NHLRC2_uc001lax.1_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	139	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		CAAAAACATGCCATCGAGGTG	0.413								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ADRB1	153	broad.mit.edu	37	10	115804211	115804211	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115804211T>C	uc001lba.2	+	1	406	c.320T>C	c.(319-321)ATG>ACG	p.M107T		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	107	Helical; Name=2; (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GACCTGGTCATGGGGCTGCTG	0.662												
TDRD1	56165	broad.mit.edu	37	10	115973165	115973165	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115973165T>C	uc001lbg.1	+	15	2045	c.1892T>C	c.(1891-1893)GTA>GCA	p.V631A	TDRD1_uc001lbf.2_Missense_Mutation_p.V565A|TDRD1_uc001lbh.1_Missense_Mutation_p.V622A|TDRD1_uc001lbi.1_Missense_Mutation_p.V622A|TDRD1_uc010qsc.1_Missense_Mutation_p.V235A|TDRD1_uc001lbj.2_Missense_Mutation_p.V340A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	631					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAAAACTTGTACAGAACAAA	0.368												
ABLIM1	3983	broad.mit.edu	37	10	116203839	116203839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:116203839G>A	uc010qsg.1	-	17	1981	c.1882C>T	c.(1882-1884)CGG>TGG	p.R628W	ABLIM1_uc010qsh.1_Missense_Mutation_p.R596W|ABLIM1_uc010qsi.1_Missense_Mutation_p.R568W|ABLIM1_uc010qsk.1_Missense_Mutation_p.R505W|ABLIM1_uc009xyp.2_Missense_Mutation_p.R592W|ABLIM1_uc010qsf.1_Missense_Mutation_p.R305W|ABLIM1_uc009xyn.2_Missense_Mutation_p.R244W|ABLIM1_uc010qsj.1_Missense_Mutation_p.R223W|ABLIM1_uc009xyo.2_Missense_Mutation_p.R441W	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	628					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)		GACCTTTCCCGGCTCTCTTTC	0.443												
ATRNL1	26033	broad.mit.edu	37	10	117309003	117309003	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:117309003T>C	uc001lcg.2	+	26	4138	c.3752T>C	c.(3751-3753)GTA>GCA	p.V1251A	ATRNL1_uc010qsm.1_Missense_Mutation_p.V380A|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1251	Helical; (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTGCTGTGGTATGGAAGATC	0.318												
SLC18A2	6571	broad.mit.edu	37	10	119001291	119001291	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119001291G>A	uc001ldd.1	+	2	118	c.87G>A	c.(85-87)GCG>GCA	p.A29A	SLC18A2_uc009xyy.1_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	29	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGTTCCTGGCGCTGCTGCTGG	0.706												
SLC18A2	6571	broad.mit.edu	37	10	119027216	119027216	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119027216A>G	uc001ldd.1	+	13	1186	c.1155A>G	c.(1153-1155)ATA>ATG	p.I385M	SLC18A2_uc009xyy.1_Missense_Mutation_p.I182M	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	385	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ATGGACTCATAGCTCCGAACT	0.378												
INPP5F	22876	broad.mit.edu	37	10	121567530	121567530	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:121567530T>C	uc001leo.2	+	13	1693	c.1527T>C	c.(1525-1527)GGT>GGC	p.G509G		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	509	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CCAATAATGGTGACTCCATTA	0.443												
SEC23IP	11196	broad.mit.edu	37	10	121677919	121677919	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:121677919T>A	uc001leu.1	+	10	1840	c.1768T>A	c.(1768-1770)TTT>ATT	p.F590I	SEC23IP_uc010qtc.1_Missense_Mutation_p.F379I|SEC23IP_uc009xzk.1_5'Flank	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	590				F -> L (in Ref. 2; AAO15299).	Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTTAATATTGTTTGACATCCT	0.318												
ACADSB	36	broad.mit.edu	37	10	124800876	124800876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:124800876C>T	uc001lhb.2	+	5	779	c.662C>T	c.(661-663)GCA>GTA	p.A221V	ACADSB_uc010qub.1_Missense_Mutation_p.A119V	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	221					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)	CTGGTGATGGCAAATGTAGAC	0.403												
BUB3	9184	broad.mit.edu	37	10	124914613	124914613	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:124914613G>A	uc001lhe.2	+	2	422	c.180G>A	c.(178-180)CTG>CTA	p.L60L	BUB3_uc009yah.2_Silent_p.L12L|BUB3_uc001lhf.3_Silent_p.L60L|BUB3_uc001lhd.2_Silent_p.L60L|BUB3_uc010qud.1_Intron	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	60	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCGCCGTCCTGGACTGCGCCT	0.602												
CPXM2	119587	broad.mit.edu	37	10	125601969	125601969	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:125601969C>T	uc001lhk.1	-	4	874	c.549G>A	c.(547-549)GCG>GCA	p.A183A	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	183	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGCGCACCACGCTCCGTCAT	0.448												
C10orf137	26098	broad.mit.edu	37	10	127451948	127451948	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:127451948A>G	uc001liq.1	+	25	3917	c.3624A>G	c.(3622-3624)AAA>AAG	p.K1208K	C10orf137_uc001lio.1_Silent_p.K1174K|C10orf137_uc001lip.1_Silent_p.K912K|C10orf137_uc001lis.1_Silent_p.K534K|C10orf137_uc001lit.1_Silent_p.K118K	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCAAATAAAACCGCGACTC	0.468												
BCCIP	56647	broad.mit.edu	37	10	127524753	127524753	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:127524753A>G	uc001ljb.3	+	7	878	c.855A>G	c.(853-855)GTA>GTG	p.V285V	BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	285					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGATGACGTACCAATGACGC	0.423												
FAM196A	642938	broad.mit.edu	37	10	128952176	128952176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:128952176C>T	uc001lju.1	-	2	1237	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Intron|FAM196A_uc001ljv.1_Missense_Mutation_p.R399Q|FAM196A_uc009yap.1_Intron	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	399										ovary(2)	2						TTGCCCCGTCCGATATGAAAG	0.443												
MKI67	4288	broad.mit.edu	37	10	129904261	129904261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:129904261G>A	uc001lke.2	-	13	6038	c.5843C>T	c.(5842-5844)GCC>GTC	p.A1948V	MKI67_uc001lkf.2_Missense_Mutation_p.A1588V|MKI67_uc009yav.1_Missense_Mutation_p.A1523V|MKI67_uc009yaw.1_Missense_Mutation_p.A1098V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1948	16 X 122 AA approximate repeats.|8.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGAGCCTTGGCCTTTTCTTT	0.478												
MKI67	4288	broad.mit.edu	37	10	129906745	129906745	+	Missense_Mutation	SNP	G	G	C	rs11016074		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:129906745G>C	uc001lke.2	-	13	3554	c.3359C>G	c.(3358-3360)ACT>AGT	p.T1120S	MKI67_uc001lkf.2_Missense_Mutation_p.T760S|MKI67_uc009yav.1_Missense_Mutation_p.T695S|MKI67_uc009yaw.1_Missense_Mutation_p.T270S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1120	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTCATCAGTCATTGATTC	0.488												
C10orf93	255352	broad.mit.edu	37	10	134750555	134750555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:134750555C>T	uc001llt.1	-	7	741	c.665G>A	c.(664-666)CGT>CAT	p.R222H		NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	222							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TAATTCATGACGAACCTGTCA	0.313												
PHRF1	57661	broad.mit.edu	37	11	608885	608885	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:608885C>T	uc001lqe.2	+	14	3560	c.3429C>T	c.(3427-3429)CAC>CAT	p.H1143H	PHRF1_uc010qwc.1_Silent_p.H1142H|PHRF1_uc010qwd.1_Silent_p.H1141H|PHRF1_uc010qwe.1_Silent_p.H1139H|PHRF1_uc009ybz.1_Silent_p.H933H|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1143	Arg-rich.						RNA polymerase binding|zinc ion binding				0						AACGCAGCCACGAGCGGCCAG	0.672												
EPS8L2	64787	broad.mit.edu	37	11	723324	723324	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:723324A>G	uc001lqt.2	+	15	1672	c.1425A>G	c.(1423-1425)CTA>CTG	p.L475L	EPS8L2_uc001lqu.2_Silent_p.L475L|EPS8L2_uc010qwk.1_Silent_p.L491L|EPS8L2_uc001lqv.2_Silent_p.L430L|EPS8L2_uc001lqw.2_Silent_p.L87L|EPS8L2_uc001lqx.2_Silent_p.L87L|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	475						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGATGCCCTACCACCAGTCA	0.562											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUC2	4583	broad.mit.edu	37	11	1096499	1096499	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1096499G>A	uc001lsx.1	+	37	13637	c.13610G>A	c.(13609-13611)CGC>CAC	p.R4537H		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4537	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTGTCCCCGCACCCTCATC	0.597												
MUC2	4583	broad.mit.edu	37	11	1101162	1101162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1101162A>G	uc001lsx.1	+	44	14674	c.14647A>G	c.(14647-14649)ACC>GCC	p.T4883A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4883	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGCAACATTACCGTCTGCAG	0.632												
TOLLIP	54472	broad.mit.edu	37	11	1298340	1298340	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1298340C>T	uc001lte.2	-	6	865	c.754G>A	c.(754-756)GTG>ATG	p.V252M	TOLLIP_uc001ltd.2_Missense_Mutation_p.V183M|TOLLIP_uc009ycu.2_Missense_Mutation_p.V191M|TOLLIP_uc001ltf.2_Missense_Mutation_p.V202M	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	252	CUE.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GCTTCCAGCACGGAGCGGATC	0.652												
TNNI2	7136	broad.mit.edu	37	11	1861658	1861658	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1861658G>A	uc010qxe.1	+	2	63	c.41G>A	c.(40-42)CGC>CAC	p.R14H	TNNI2_uc010qxc.1_Missense_Mutation_p.R12H|TNNI2_uc010qxd.1_Missense_Mutation_p.R12H	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	14	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATCACGGCCCGCAGGCAGCAC	0.726												
TSSC4	10078	broad.mit.edu	37	11	2424406	2424406	+	Silent	SNP	C	C	T	rs147679407		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:2424406C>T	uc001lwj.2	+	4	904	c.543C>T	c.(541-543)ACC>ACT	p.T181T	TSSC4_uc001lwi.2_Silent_p.T117T|TSSC4_uc001lwk.2_Silent_p.T181T|TSSC4_uc001lwl.2_Silent_p.T181T	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	181											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGGCCACCGCCCTGGCCT	0.662												
NUP98	4928	broad.mit.edu	37	11	3720570	3720570	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:3720570G>A	uc001lyh.2	-	25	4042	c.3751C>T	c.(3751-3753)CAC>TAC	p.H1251Y	NUP98_uc001lyi.2_Missense_Mutation_p.H1251Y|NUP98_uc001lyg.2_Missense_Mutation_p.H216Y	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1268					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		aggctccagtgcttcacaact	0.264			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR52M1	119772	broad.mit.edu	37	11	4566819	4566819	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4566819T>C	uc010qyf.1	+	1	399	c.399T>C	c.(397-399)CGT>CGC	p.R133R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCACTACGTCATAGCATGG	0.527												
OR52M1	119772	broad.mit.edu	37	11	4567047	4567047	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4567047G>A	uc010qyf.1	+	1	627	c.627G>A	c.(625-627)GTG>GTA	p.V209V		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTCTGGTGTTGATCCTGG	0.517												
TRIM68	55128	broad.mit.edu	37	11	4621976	4621976	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:4621976T>C	uc001lzf.1	-	7	1226	c.988A>G	c.(988-990)ACC>GCC	p.T330A	TRIM68_uc001lzg.1_Missense_Mutation_p.T107A|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	330	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTGGTTGGTGTCTCCATAG	0.512												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624748	5624748	+	Missense_Mutation	SNP	G	G	A	rs138509220		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5624748G>A	uc001mbf.2	+	2	534	c.290G>A	c.(289-291)CGG>CAG	p.R97Q	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R69Q|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_Missense_Mutation_p.R69Q|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.R97Q|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	97						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGGAACCTGCGGCCTAATCGG	0.557												
OR52N1	79473	broad.mit.edu	37	11	5809670	5809670	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5809670A>G	uc010qzo.1	-	1	377	c.377T>C	c.(376-378)GTG>GCG	p.V126A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|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)		GCAGATGGCCACACAGTGGTC	0.507												
SMPD1	6609	broad.mit.edu	37	11	6413196	6413196	+	Missense_Mutation	SNP	G	G	A	rs2723669	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6413196G>A	uc001mcw.2	+	2	1075	c.901G>A	c.(901-903)GTC>ATC	p.V301I	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.V301I|SMPD1_uc009yew.2_Missense_Mutation_p.V300I	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	299					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCTGACCACCGTCACAGCACT	0.582												
OR6A2	8590	broad.mit.edu	37	11	6816234	6816234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6816234C>T	uc001mes.1	-	1	906	c.706G>A	c.(706-708)GCT>ACT	p.A236T		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTCCAGCAGCCGAAGGAATG	0.493												
ZNF214	7761	broad.mit.edu	37	11	7021758	7021758	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:7021758A>G	uc001mfa.2	-	3	1459	c.1156T>C	c.(1156-1158)TAT>CAT	p.Y386H	ZNF214_uc010ray.1_Missense_Mutation_p.Y386H|ZNF214_uc009yfh.1_Missense_Mutation_p.Y386H	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCACACTTATATGGTTTTTCT	0.393												
TUB	7275	broad.mit.edu	37	11	8111723	8111723	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:8111723A>G	uc001mga.2	+	3	347	c.198A>G	c.(196-198)GAA>GAG	p.E66E	TUB_uc010rbk.1_Silent_p.E72E|TUB_uc001mfy.2_Silent_p.E121E	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	66					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGTCAGAGGAACAAGCCCCCC	0.517												
STK33	65975	broad.mit.edu	37	11	8478918	8478918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:8478918C>T	uc001mgi.1	-	5	1586	c.667G>A	c.(667-669)GCA>ACA	p.A223T	STK33_uc001mgj.1_Missense_Mutation_p.A223T|STK33_uc001mgk.1_Missense_Mutation_p.A223T|STK33_uc010rbn.1_Missense_Mutation_p.A182T|STK33_uc001mgl.3_Missense_Mutation_p.A36T|STK33_uc009yfp.2_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	223	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATAGCTGATGCGAGACTTTGA	0.398												
IPO7	10527	broad.mit.edu	37	11	9446771	9446771	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9446771C>T	uc001mho.2	+	12	1439	c.1297C>T	c.(1297-1299)CTG>TTG	p.L433L		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	433					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGATGGAGCCCTGCATATGAT	0.348												
IPO7	10527	broad.mit.edu	37	11	9452545	9452545	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9452545A>G	uc001mho.2	+	16	2018	c.1876A>G	c.(1876-1878)AAA>GAA	p.K626E		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	626					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAGATCATAAAGAGGTAAG	0.388												
IPO7	10527	broad.mit.edu	37	11	9456521	9456521	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9456521A>G	uc001mho.2	+	19	2257	c.2115A>G	c.(2113-2115)ACA>ACG	p.T705T		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	705					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CAGTTGATACAGACACACTTC	0.328												
SBF2	81846	broad.mit.edu	37	11	9875254	9875254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9875254G>A	uc001mib.2	-	20	2507	c.2369C>T	c.(2368-2370)GCA>GTA	p.A790V	SBF2_uc001mif.3_Missense_Mutation_p.A546V|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	790					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)		TACACTTCCTGCAATACTAAG	0.378												
SBF2	81846	broad.mit.edu	37	11	9990009	9990009	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:9990009G>A	uc001mib.2	-	14	1617	c.1479C>T	c.(1477-1479)TTC>TTT	p.F493F	SBF2_uc001mif.3_Silent_p.F249F|SBF2_uc001mih.3_Silent_p.F22F	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	493					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)		TAATCTCTGGGAAAGGAAGAA	0.418												
CTR9	9646	broad.mit.edu	37	11	10785222	10785222	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10785222T>C	uc001mja.2	+	9	1139	c.990T>C	c.(988-990)TAT>TAC	p.Y330Y		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	330	TPR 6.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTACTATTATCAAGCCACAC	0.333												
CTR9	9646	broad.mit.edu	37	11	10789381	10789381	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10789381G>T	uc001mja.2	+	14	1864	c.1715G>T	c.(1714-1716)GGC>GTC	p.G572V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	572	TPR 12.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCTTTGATTGGCAATCTTCAT	0.393												
CTR9	9646	broad.mit.edu	37	11	10789658	10789658	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:10789658A>G	uc001mja.2	+	15	2059	c.1910A>G	c.(1909-1911)AAA>AGA	p.K637R		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	637	TPR 13.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCCATCTACAAACAAGTACTC	0.348												
MICAL2	9645	broad.mit.edu	37	11	12234853	12234853	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:12234853A>C	uc001mjz.2	+	7	1031	c.743A>C	c.(742-744)AAC>ACC	p.N248T	MICAL2_uc010rch.1_Missense_Mutation_p.N248T|MICAL2_uc001mka.2_Missense_Mutation_p.N248T|MICAL2_uc010rci.1_Missense_Mutation_p.N248T|MICAL2_uc001mkb.2_Missense_Mutation_p.N248T|MICAL2_uc001mkc.2_Missense_Mutation_p.N248T|MICAL2_uc001mkd.2_Missense_Mutation_p.N77T|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	248						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ATCACCGCCAACTTCATAAAC	0.438												
MICAL2	9645	broad.mit.edu	37	11	12237834	12237834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:12237834C>T	uc001mjz.2	+	8	1204	c.916C>T	c.(916-918)CAG>TAG	p.Q306*	MICAL2_uc010rch.1_Nonsense_Mutation_p.Q306*|MICAL2_uc001mka.2_Nonsense_Mutation_p.Q306*|MICAL2_uc010rci.1_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkb.2_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkc.2_Nonsense_Mutation_p.Q306*|MICAL2_uc001mkd.2_Nonsense_Mutation_p.Q135*|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	306						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AGCCAAGAAGCAGAGCCTGCT	0.478												
SOX6	55553	broad.mit.edu	37	11	16077437	16077437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:16077437G>A	uc001mme.2	-	10	1184	c.1151C>T	c.(1150-1152)GCC>GTC	p.A384V	SOX6_uc001mmd.2_Missense_Mutation_p.A333V|SOX6_uc001mmf.2_Missense_Mutation_p.A330V|SOX6_uc001mmg.2_Missense_Mutation_p.A371V	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	371					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CAGCTGAGCGGCATAGAGCTG	0.448												
PLEKHA7	144100	broad.mit.edu	37	11	16816142	16816142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:16816142G>A	uc001mmo.2	-	19	2653	c.2638C>T	c.(2638-2640)CGA>TGA	p.R880*	PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.R880*|PLEKHA7_uc001mmm.2_5'Flank|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.R454*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.R588*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	880	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						GGGAAGAGTCGAACCTCCAGA	0.622												
PIK3C2A	5286	broad.mit.edu	37	11	17150966	17150966	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17150966A>G	uc001mmq.3	-	12	2346	c.2280T>C	c.(2278-2280)CTT>CTC	p.L760L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.L380L|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	760					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	GAGTAAGGTGAAGAACTGATT	0.343												
KCNJ11	3767	broad.mit.edu	37	11	17408964	17408964	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17408964G>A	uc001mna.2	-	1	1243	c.675C>T	c.(673-675)AGC>AGT	p.S225S	KCNJ11_uc001mnb.3_Silent_p.S138S	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	225						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CGCCCTCGGGGCTGGTGGTCT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ABCC8	6833	broad.mit.edu	37	11	17428579	17428579	+	Silent	SNP	G	G	A	rs149279510		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17428579G>A	uc001mnc.2	-	25	3144	c.3018C>T	c.(3016-3018)TCC>TCT	p.S1006S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1006	Helical; Name=12; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGATGCCGGCGGAGGACAGGT	0.622												
KCNC1	3746	broad.mit.edu	37	11	17793376	17793376	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17793376T>C	uc001mnk.3	+	2	790	c.735T>C	c.(733-735)CTT>CTC	p.L245L	KCNC1_uc009yhc.1_Silent_p.L245L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						AGGCCTTCCTTACCTACATCG	0.557												
KCNC1	3746	broad.mit.edu	37	11	17793706	17793706	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17793706C>T	uc001mnk.3	+	2	1120	c.1065C>T	c.(1063-1065)GGC>GGT	p.G355G	KCNC1_uc009yhc.1_Silent_p.G355G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	355	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						TGGCCTTGGGCGTGCTGATCT	0.602												
MRGPRX4	117196	broad.mit.edu	37	11	18195607	18195607	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:18195607C>T	uc001mnv.1	+	1	1224	c.804C>T	c.(802-804)AAC>AAT	p.N268N		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	268	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						GTAGTGCCAACCCCATCATTT	0.488												
NAV2	89797	broad.mit.edu	37	11	19954827	19954827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:19954827C>T	uc010rdm.1	+	8	1467	c.1106C>T	c.(1105-1107)TCG>TTG	p.S369L	NAV2_uc001mpp.2_Missense_Mutation_p.S282L|NAV2_uc001mpr.3_Missense_Mutation_p.S346L	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	369						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AGTACCTCCTCGGCCATCCCG	0.607												
DBX1	120237	broad.mit.edu	37	11	20177851	20177851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20177851G>A	uc001mpw.1	-	4	1058	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCGAGTGCGCGGGCGAGGG	0.706												
NELL1	4745	broad.mit.edu	37	11	20699478	20699478	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20699478T>C	uc001mqe.2	+	2	209	c.56T>C	c.(55-57)GTG>GCG	p.V19A	NELL1_uc001mqf.2_Missense_Mutation_p.V19A|NELL1_uc009yid.2_Missense_Mutation_p.V47A|NELL1_uc010rdo.1_Missense_Mutation_p.V19A|NELL1_uc010rdp.1_5'UTR	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	19					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TCCTTTCCAGTGGTGGGCTTT	0.502												
NELL1	4745	broad.mit.edu	37	11	20959366	20959366	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:20959366A>C	uc001mqe.2	+	10	1185	c.1032A>C	c.(1030-1032)GAA>GAC	p.E344D	NELL1_uc001mqf.2_Missense_Mutation_p.E344D|NELL1_uc009yid.2_Missense_Mutation_p.E372D|NELL1_uc010rdo.1_Missense_Mutation_p.E287D|NELL1_uc010rdp.1_Missense_Mutation_p.E104D	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	344	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TTCTTGCAGAAGGCCAGCGGA	0.418												
ANO5	203859	broad.mit.edu	37	11	22284591	22284591	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:22284591T>C	uc001mqi.2	+	17	2215	c.1898_splice	c.e17+2	p.P633_splice	ANO5_uc001mqj.2_Splice_Site_p.P632_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CATTTATCCGTATGTATGACT	0.343												
ANO5	203859	broad.mit.edu	37	11	22294393	22294393	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:22294393T>C	uc001mqi.2	+	19	2410	c.2093T>C	c.(2092-2094)CTC>CCC	p.L698P	ANO5_uc001mqj.2_Missense_Mutation_p.L697P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	698	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CTTCTTGCTCTCATAAATAAT	0.378												
KIF18A	81930	broad.mit.edu	37	11	28104461	28104461	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:28104461T>C	uc001msc.2	-	9	1386	c.1204A>G	c.(1204-1206)AAT>GAT	p.N402D		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	402	Potential.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TCATTTTCATTAGTGAAGGCT	0.279												
KIF18A	81930	broad.mit.edu	37	11	28112997	28112997	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:28112997T>C	uc001msc.2	-	4	729	c.547A>G	c.(547-549)ACC>GCC	p.T183A		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	183	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						CCTTTTTGGGTATCTTCCCGG	0.353												
MPPED2	744	broad.mit.edu	37	11	30435828	30435828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:30435828G>A	uc001msr.2	-	5	833	c.713C>T	c.(712-714)ACG>ATG	p.T238M	MPPED2_uc001msq.3_Missense_Mutation_p.T238M|MPPED2_uc009yji.2_Missense_Mutation_p.T112M	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	238					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						CCTCTGAACCGTGTTTAACAG	0.458												
MPPED2	744	broad.mit.edu	37	11	30517060	30517060	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:30517060G>A	uc001msr.2	-	3	439	c.319C>T	c.(319-321)CCA>TCA	p.P107S	MPPED2_uc001msq.3_Missense_Mutation_p.P107S|MPPED2_uc009yji.2_5'UTR	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	107					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						TATTCATATGGCAGGTTTCCT	0.413												
ELP4	26610	broad.mit.edu	37	11	31616422	31616422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:31616422C>T	uc001mtb.2	+	4	522	c.487C>T	c.(487-489)CGT>TGT	p.R163C	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R163C|ELP4_uc010rdz.1_Missense_Mutation_p.R163C	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	163					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					AATAGCTTGGCGTTACCAGTT	0.313												
CSTF3	1479	broad.mit.edu	37	11	33117933	33117933	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33117933T>A	uc001muh.2	-	15	1460	c.1294A>T	c.(1294-1296)ATT>TTT	p.I432F	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	432					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						AGCTCAAAAATCTTAAAGGCA	0.333												
CSTF3	1479	broad.mit.edu	37	11	33127542	33127542	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33127542A>G	uc001muh.2	-	6	589	c.423_splice	c.e6+1	p.Q141_splice		NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TTTTAACTCTACCTGATAGGA	0.289												
HIPK3	10114	broad.mit.edu	37	11	33369426	33369426	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:33369426A>T	uc001mul.1	+	11	2443	c.2173A>T	c.(2173-2175)AAC>TAC	p.N725Y	HIPK3_uc001mum.1_Missense_Mutation_p.N725Y|HIPK3_uc009yjv.1_Missense_Mutation_p.N725Y	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	725					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CAATCATTATAACTCAGTGAT	0.423												
NAT10	55226	broad.mit.edu	37	11	34130297	34130297	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:34130297A>G	uc001mvk.2	+	3	361	c.117A>G	c.(115-117)ATA>ATG	p.I39M	NAT10_uc010ren.1_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	39						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGGTGGTAATACTTCATCACA	0.279												
ABTB2	25841	broad.mit.edu	37	11	34194790	34194790	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:34194790G>A	uc001mvl.1	-	4	981	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	251							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AGGCTGCGGCGGTGCTCTGCG	0.672												
TRIM44	54765	broad.mit.edu	37	11	35685113	35685113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:35685113G>A	uc001mwi.2	+	1	761	c.454G>A	c.(454-456)GAG>AAG	p.E152K		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	152	Glu-rich.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				aggggaatccgaggcggaggg	0.209												
ALKBH3	221120	broad.mit.edu	37	11	43908177	43908177	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:43908177C>T	uc001mxs.2	+	5	683	c.240C>T	c.(238-240)ATC>ATT	p.I80I	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_5'UTR	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	80					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)	TGTATGAAATCAGCCTGTCAC	0.388								Direct_reversal_of_damage				
EXT2	2132	broad.mit.edu	37	11	44255775	44255775	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:44255775G>A	uc001mxz.2	+	12	2251	c.1917G>A	c.(1915-1917)ACG>ACA	p.T639T	EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	639	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						CCAACGTCACGGGAAAAGCAG	0.284			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
GYLTL1B	120071	broad.mit.edu	37	11	45947886	45947886	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:45947886G>A	uc001nbv.1	+	8	1107	c.996G>A	c.(994-996)GCG>GCA	p.A332A	GYLTL1B_uc001nbw.1_Silent_p.A301A|GYLTL1B_uc001nbx.1_Silent_p.A332A|GYLTL1B_uc001nby.1_5'Flank|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	332	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		ACTCTGAGGCGTCTGACCTCA	0.617												
DGKZ	8525	broad.mit.edu	37	11	46394198	46394198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:46394198C>T	uc001ncn.1	+	13	1731	c.1606C>T	c.(1606-1608)CGG>TGG	p.R536W	DGKZ_uc001nch.1_Missense_Mutation_p.R364W|DGKZ_uc010rgq.1_Missense_Mutation_p.R291W|DGKZ_uc001ncj.1_Missense_Mutation_p.R314W|DGKZ_uc010rgr.1_Missense_Mutation_p.R313W|DGKZ_uc001nck.1_Missense_Mutation_p.R126W|DGKZ_uc001ncl.2_Missense_Mutation_p.R348W|DGKZ_uc001ncm.2_Missense_Mutation_p.R347W|DGKZ_uc009yky.1_Missense_Mutation_p.R348W|DGKZ_uc010rgs.1_Missense_Mutation_p.R325W	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	536	DAGKc.|Mediates interaction with RASGRP1.				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)		GCACAACCTGCGGATCCTGGC	0.662												
CKAP5	9793	broad.mit.edu	37	11	46829614	46829614	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:46829614G>A	uc001ndi.1	-	8	1055	c.945C>T	c.(943-945)GGC>GGT	p.G315G	CKAP5_uc009ylg.1_Silent_p.G201G|CKAP5_uc001ndj.1_Silent_p.G315G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	315					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CTGCATAATCGCCAGCTTCCA	0.393												
ARFGAP2	84364	broad.mit.edu	37	11	47198140	47198140	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47198140T>C	uc001ndt.2	-	2	133	c.118A>G	c.(118-120)ACG>GCG	p.T40A	ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.T40A|ARFGAP2_uc001ndu.2_Missense_Mutation_p.T40A|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.T40A|ARFGAP2_uc001ndv.1_Missense_Mutation_p.T40A	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	40	C4-type.|Arf-GAP.			T -> M (in Ref. 1; BAB55144).	protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						ACACCGTACGTGATGCTGGCC	0.622												
C1QTNF4	114900	broad.mit.edu	37	11	47612348	47612348	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47612348C>T	uc001ngc.2	-	2	282	c.15G>A	c.(13-15)CTG>CTA	p.L5L		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	5						extracellular region					0						GCAGGCCCAGCAGAAGCGGCA	0.741												
MTCH2	23788	broad.mit.edu	37	11	47653245	47653245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47653245C>T	uc010rho.1	-	6	577	c.388G>A	c.(388-390)GCT>ACT	p.A130T	MTCH2_uc001nge.2_Missense_Mutation_p.A3T|MTCH2_uc010rhp.1_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	130	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0						GCAGAACGAGCGATCATCTCT	0.428												
AGBL2	79841	broad.mit.edu	37	11	47712295	47712295	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47712295T>C	uc001ngg.2	-	9	1064	c.964A>G	c.(964-966)ATT>GTT	p.I322V	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.I284V|AGBL2_uc001ngh.1_Missense_Mutation_p.I266V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	322					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						AAGTTGACAATGGTGAAGCGA	0.443												
NUP160	23279	broad.mit.edu	37	11	47806489	47806489	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47806489A>G	uc001ngm.2	-	33	4060	c.3975T>C	c.(3973-3975)CTT>CTC	p.L1325L	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1325					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						AACTGTTTATAAGCCAATTAG	0.378												
PTPRJ	5795	broad.mit.edu	37	11	48158680	48158680	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:48158680T>C	uc001ngp.3	+	10	2354	c.1999T>C	c.(1999-2001)TCC>CCC	p.S667P	PTPRJ_uc010rhr.1_Missense_Mutation_p.S112P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	667	Extracellular (Potential).|Fibronectin type-III 7.				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						GGCTGGAAATTCCAGCAACGC	0.453												
OR4B1	119765	broad.mit.edu	37	11	48238713	48238713	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:48238713T>C	uc010rhs.1	+	1	352	c.352T>C	c.(352-354)TAT>CAT	p.Y118H		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GGTGATGGCCTATGATTGCTA	0.468												
OR4P4	81300	broad.mit.edu	37	11	55406147	55406147	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55406147T>G	uc010rij.1	+	1	314	c.314T>G	c.(313-315)TTT>TGT	p.F105C		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ACCCATTTTTTTGGAGGCATA	0.428												
OR4C6	219432	broad.mit.edu	37	11	55432731	55432731	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55432731T>A	uc001nht.3	+	3	354	c.89T>A	c.(88-90)CTT>CAT	p.L30H	OR4C6_uc010rik.1_Missense_Mutation_p.L30H	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GCTGTGTTTCTTGTCATGTAT	0.378												
OR8J3	81168	broad.mit.edu	37	11	55905019	55905019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:55905019A>G	uc010riz.1	-	1	176	c.176T>C	c.(175-177)ATG>ACG	p.M59T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAAAAAGTACATGGGGTTTTG	0.458												
OR5M10	390167	broad.mit.edu	37	11	56344778	56344778	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56344778A>G	uc001niz.1	-	1	420	c.420T>C	c.(418-420)ATT>ATC	p.I140I		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGAGATGCAAATGTTCTTGG	0.448												
OR9G4	283189	broad.mit.edu	37	11	56510841	56510841	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56510841A>G	uc010rjo.1	-	1	447	c.447T>C	c.(445-447)GGT>GGC	p.G149G		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	149	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGGACATGGTACCTGAATAAA	0.478												
LRRC55	219527	broad.mit.edu	37	11	56950045	56950045	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56950045G>T	uc001njl.1	+	1	825	c.678G>T	c.(676-678)GAG>GAT	p.E226D		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	196	LRR 5.					integral to membrane					0						AGGCTCTTGAGGGCCTACCGG	0.647												
LRRC55	219527	broad.mit.edu	37	11	56950151	56950151	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:56950151A>G	uc001njl.1	+	1	931	c.784A>G	c.(784-786)ACA>GCA	p.T262A		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	232	LRRCT.					integral to membrane					0						CCAGCGCTGTACAGCAGGTAA	0.597												
PRG3	10394	broad.mit.edu	37	11	57146978	57146978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57146978C>T	uc001njv.1	-	3	474	c.364G>A	c.(364-366)GCA>ACA	p.A122T		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	122	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						TGAGCTTCTGCAAAAGTTTTA	0.483												
OR5B12	390191	broad.mit.edu	37	11	58207279	58207279	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58207279T>A	uc010rkh.1	-	1	346	c.346A>T	c.(346-348)ATG>TTG	p.M116L		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATAGGCCATTGATGCCAGG	0.438												
FAM111B	374393	broad.mit.edu	37	11	58892175	58892175	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58892175A>G	uc001nnl.2	+	4	848	c.605A>G	c.(604-606)AAC>AGC	p.N202S	FAM111B_uc001nnm.2_Missense_Mutation_p.N172S|FAM111B_uc010rko.1_Missense_Mutation_p.N172S	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	202							catalytic activity			ovary(2)	2						GTTAAGATCAACGAACTTCAT	0.378												
DTX4	23220	broad.mit.edu	37	11	58972212	58972212	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:58972212A>G	uc001nns.2	+	9	1947	c.1690A>G	c.(1690-1692)ACC>GCC	p.T564A	DTX4_uc001nnr.2_Missense_Mutation_p.T458A	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	564					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				CACCTCCAGCACCACAGGCGA	0.532												
OSBP	5007	broad.mit.edu	37	11	59361099	59361099	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:59361099T>C	uc001noc.1	-	9	2136	c.1656A>G	c.(1654-1656)AAA>AAG	p.K552K	OSBP_uc009ymr.1_Intron	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	552					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGAGAGGTATTTGCCTCGAA	0.408												
PATL1	219988	broad.mit.edu	37	11	59425112	59425112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:59425112C>T	uc001noe.3	-	5	655	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	PATL1_uc009yms.1_Missense_Mutation_p.R171Q|PATL1_uc010rkw.1_5'UTR	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	171	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						TGGTAATGCTCGTTCAGAAAG	0.512												
CD6	923	broad.mit.edu	37	11	60776004	60776004	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:60776004A>G	uc001nqq.2	+	4	693	c.470_splice	c.e4-2	p.E157_splice	CD6_uc009yni.2_Splice_Site_p.E157_splice|CD6_uc009ynj.2_Splice_Site_p.E157_splice|CD6_uc001nqp.2_Splice_Site_p.E157_splice|CD6_uc001nqr.2_Splice_Site_p.E157_splice|CD6_uc001nqs.2_Splice_Site|CD6_uc001nqt.2_Splice_Site_p.E157_splice	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor						cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCCCACCCCTAGAGAACCGCG	0.672												
CPSF7	79869	broad.mit.edu	37	11	61179396	61179396	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:61179396G>A	uc001nrq.2	-	8	1232	c.1098C>T	c.(1096-1098)GAC>GAT	p.D366D	CPSF7_uc001nro.2_Silent_p.D357D|CPSF7_uc001nrp.2_Silent_p.D409D|CPSF7_uc001nrr.2_Silent_p.D357D	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	366					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						TCTCAATTGCGTCACTGTAAT	0.502												
AHNAK	79026	broad.mit.edu	37	11	62285270	62285270	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62285270T>C	uc001ntl.2	-	5	16919	c.16619A>G	c.(16618-16620)GAT>GGT	p.D5540G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5540	Gly-rich.				nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACACTGATATCAGGAGCAGC	0.488												
AHNAK	79026	broad.mit.edu	37	11	62290281	62290281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62290281C>T	uc001ntl.2	-	5	11908	c.11608G>A	c.(11608-11610)GCC>ACC	p.A3870T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3870					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATCTTGGGGGCTTTGATGTTC	0.468												
INTS5	80789	broad.mit.edu	37	11	62416494	62416494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:62416494C>T	uc001nud.2	-	2	1111	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	353					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						AGAGACAGTGCCCAGCAAAGC	0.622												
SLC22A10	387775	broad.mit.edu	37	11	63066991	63066991	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63066991A>G	uc009yor.2	+	6	1168	c.960A>G	c.(958-960)GTA>GTG	p.V320V	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Silent_p.V160V	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	320	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						TGAAGGTTGTAAGATCCACCA	0.428												
ATL3	25923	broad.mit.edu	37	11	63426718	63426718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63426718G>A	uc001nxk.1	-	2	329	c.53C>T	c.(52-54)GCC>GTC	p.A18V	ATL3_uc010rms.1_5'UTR|ATL3_uc001nxl.1_Missense_Mutation_p.A70V	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	18	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						GCTCTCCATGGCATCATCTAT	0.388												
DNAJC4	3338	broad.mit.edu	37	11	63999943	63999943	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:63999943C>T	uc001nys.2	+	4	684	c.222C>T	c.(220-222)AGC>AGT	p.S74S	uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.S74S|DNAJC4_uc001nyu.2_Silent_p.S74S|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank	NM_005528	NP_005519	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	74	J.				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding				0						GCCTGCACAGCCGCTTTGTGG	0.647												
GPR137	56834	broad.mit.edu	37	11	64056707	64056707	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64056707C>A	uc001nzg.1	+	8	1432	c.1124C>A	c.(1123-1125)CCC>CAC	p.P375H	GPR137_uc010rni.1_Missense_Mutation_p.P433H|GPR137_uc001nzf.2_3'UTR|GPR137_uc001nzi.2_3'UTR|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	375	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1						GGCCCCAGTCCCCCTCACCCT	0.667												
MEN1	4221	broad.mit.edu	37	11	64573765	64573765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64573765G>A	uc001obj.2	-	7	1076	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	MEN1_uc001obk.2_Missense_Mutation_p.R335C|MEN1_uc001obl.2_Missense_Mutation_p.R295C|MEN1_uc001obm.2_Missense_Mutation_p.R330C|MEN1_uc001obn.2_Missense_Mutation_p.R335C|MEN1_uc001obo.2_Missense_Mutation_p.R335C|MEN1_uc001obp.2_Missense_Mutation_p.R330C|MEN1_uc001obq.2_Missense_Mutation_p.R335C|MEN1_uc001obr.2_Missense_Mutation_p.R335C	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	335	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						TTGCGGTTGCGACAGTGGTAG	0.602			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ATG2A	23130	broad.mit.edu	37	11	64665443	64665443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64665443C>T	uc001obx.2	-	35	4977	c.4862G>A	c.(4861-4863)CGC>CAC	p.R1621H	ATG2A_uc001obw.2_Missense_Mutation_p.R386H	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1621							protein binding			ovary(1)|central_nervous_system(1)	2						AGTCTCGGGGCGAGCTAGGGG	0.687												
ATG2A	23130	broad.mit.edu	37	11	64666107	64666107	+	Splice_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64666107C>T	uc001obx.2	-	32	4786	c.4671_splice	c.e32+1	p.M1557_splice	ATG2A_uc001obw.2_Splice_Site_p.M322_splice	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A								protein binding			ovary(1)|central_nervous_system(1)	2						GTCGCTCATACCATGTTAGAG	0.587												
C11orf85	283129	broad.mit.edu	37	11	64708103	64708103	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64708103T>G	uc001ocb.1	-	8	563	c.489A>C	c.(487-489)AAA>AAC	p.K163N	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.T107P	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	163											0						CCTTGTTGGGTTTTTCTTTCC	0.398												
LTBP3	4054	broad.mit.edu	37	11	65307100	65307100	+	Splice_Site	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65307100C>A	uc001oej.2	-	26	3817	c.3548_splice	c.e26-1	p.G1183_splice	LTBP3_uc001oef.2_Splice_Site_p.G186_splice|LTBP3_uc001oeg.2_Splice_Site_p.G139_splice|LTBP3_uc001oeh.2_Splice_Site_p.G613_splice|LTBP3_uc010roi.1_Splice_Site_p.G1019_splice|LTBP3_uc001oei.2_Splice_Site_p.G1136_splice|LTBP3_uc010roj.1_Splice_Site_p.G837_splice|LTBP3_uc010rok.1_Splice_Site_p.G1094_splice	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding							extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CAATGGGACCCTGGGAGGAGC	0.692												
EHBP1L1	254102	broad.mit.edu	37	11	65351053	65351053	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65351053T>C	uc001oeo.3	+	9	3175	c.2910T>C	c.(2908-2910)GGT>GGC	p.G970G	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	970										central_nervous_system(1)	1						ACAAATCTGGTACTTTTAAGG	0.567												
DKFZp761E198	91056	broad.mit.edu	37	11	65546619	65546619	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65546619G>A	uc001ofo.3	-	1	1204	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	392							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		GCCCGCTGCCGCAAGCCAGCC	0.652												
YIF1A	10897	broad.mit.edu	37	11	66053174	66053174	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66053174T>C	uc001ohk.3	-	5	665	c.483A>G	c.(481-483)AAA>AAG	p.K161K	YIF1A_uc001ohj.2_Silent_p.K18K	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	161	Extracellular (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0						GCACTGACCTTTTCTGAATGC	0.582												
CCDC87	55231	broad.mit.edu	37	11	66358846	66358846	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66358846T>C	uc001oiq.3	-	1	1709	c.1641A>G	c.(1639-1641)GGA>GGG	p.G547G	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	547										ovary(1)|skin(1)	2						GGGAGTAAAGTCCAACCAGCT	0.478												
RBM14	10432	broad.mit.edu	37	11	66392810	66392810	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66392810C>T	uc001oit.2	+	2	1602	c.1463C>T	c.(1462-1464)GCT>GTT	p.A488V	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	488	Ala-rich.				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						TCCTATGGGGCTCAGTCGGCT	0.632												
C11orf80	79703	broad.mit.edu	37	11	66571567	66571567	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66571567A>G	uc001ojf.2	+	9	951	c.944A>G	c.(943-945)GAC>GGC	p.D315G	C11orf80_uc001ojg.2_Missense_Mutation_p.D81G|C11orf80_uc001ojh.2_Missense_Mutation_p.D82G|C11orf80_uc001oji.2_Missense_Mutation_p.D82G|C11orf80_uc010rpk.1_Missense_Mutation_p.D150G	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	160											0						GCTGGCATGGACTTGTTGGGA	0.473												
PC	5091	broad.mit.edu	37	11	66618339	66618339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66618339C>T	uc001ojn.1	-	16	2328	c.2279G>A	c.(2278-2280)CGG>CAG	p.R760Q	PC_uc001ojo.1_Missense_Mutation_p.R760Q|PC_uc001ojp.1_Missense_Mutation_p.R760Q|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	760	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GAAGCGGTCCCGGAGGGAGCT	0.662												
PC	5091	broad.mit.edu	37	11	66639309	66639309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66639309G>A	uc001ojn.1	-	3	219	c.170C>T	c.(169-171)ACG>ATG	p.T57M	PC_uc001ojo.1_Missense_Mutation_p.T57M|PC_uc001ojp.1_Missense_Mutation_p.T57M	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	57	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCCCAGCTCCGTGCAGGCCCG	0.577												
KDM2A	22992	broad.mit.edu	37	11	67017751	67017751	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67017751T>C	uc001ojw.2	+	17	3114	c.2250T>C	c.(2248-2250)AGT>AGC	p.S750S	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.S444S|KDM2A_uc010rpn.1_Silent_p.S311S|KDM2A_uc001ojz.1_Silent_p.S208S|KDM2A_uc001oka.2_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						ACCACCACAGTGCCAGCCGCG	0.627												
RAD9A	5883	broad.mit.edu	37	11	67161249	67161249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67161249G>A	uc001okr.2	+	5	530	c.437G>A	c.(436-438)CGC>CAC	p.R146H	RAD9A_uc001oks.2_5'Flank	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	146					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACATGCTCCGCGCCCCAGCA	0.627								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
PPP1CA	5499	broad.mit.edu	37	11	67168168	67168168	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67168168T>C	uc001okw.1	-	3	533	c.410A>G	c.(409-411)TAC>TGC	p.Y137C	PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.Y142C|PPP1CA_uc001oku.1_Missense_Mutation_p.Y148C|PPP1CA_uc001okv.1_Missense_Mutation_p.Y93C|PPP1CA_uc001okx.1_Missense_Mutation_p.Y225C|PPP1CA_uc001oky.2_Missense_Mutation_p.Y137C	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	137					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACACTCATCGTAGAAACCATA	0.547												
PTPRCAP	5790	broad.mit.edu	37	11	67203517	67203517	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67203517T>C	uc001oli.1	-	2	371	c.308A>G	c.(307-309)GAC>GGC	p.D103G		NM_005608	NP_005599	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type,	103					defense response	integral to membrane|plasma membrane					0			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCGCTCAAGGTCATTGTCTGT	0.677												
CABP2	51475	broad.mit.edu	37	11	67287283	67287283	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:67287283G>A	uc001omc.1	-	6	720	c.618C>T	c.(616-618)GAC>GAT	p.D206D	CABP2_uc001omd.1_Silent_p.D149D|CABP2_uc001ome.1_Silent_p.D212D	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	206	EF-hand 4.|3 (Potential).				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						CGACCAGACCGTCCCCATTGA	0.637												
IGHMBP2	3508	broad.mit.edu	37	11	68700870	68700870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:68700870G>A	uc001ook.1	+	9	1441	c.1339G>A	c.(1339-1341)GCT>ACT	p.A447T	IGHMBP2_uc001ool.1_Missense_Mutation_p.A71T|IGHMBP2_uc001oom.1_Missense_Mutation_p.A25T	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	447					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)			CATGCACCAGGCTATCATGCG	0.637												
CTTN	2017	broad.mit.edu	37	11	70265939	70265939	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:70265939C>T	uc001opv.3	+	9	862	c.656C>T	c.(655-657)ACG>ATG	p.T219M	CTTN_uc001opu.2_Missense_Mutation_p.T219M|CTTN_uc001opw.3_Missense_Mutation_p.T219M|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	219	Cortactin 4.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CAAGGCAAAACGGAGAAGCAC	0.468												
NUMA1	4926	broad.mit.edu	37	11	71724239	71724239	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:71724239A>G	uc001orl.1	-	15	4482	c.4310T>C	c.(4309-4311)CTG>CCG	p.L1437P	NUMA1_uc009ysw.1_Missense_Mutation_p.L1000P|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.L1437P|NUMA1_uc001orn.2_Missense_Mutation_p.L1000P|NUMA1_uc009ysx.1_Missense_Mutation_p.L1437P|NUMA1_uc001oro.1_Missense_Mutation_p.L1437P	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1437	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						CAGCATGCTCAGCTGCTCTGC	0.637			T	RARA	APL							
MRPL48	51642	broad.mit.edu	37	11	73555944	73555944	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:73555944T>C	uc001ouh.3	+	5	394	c.294T>C	c.(292-294)TAT>TAC	p.Y98Y	MRPL48_uc009ytt.2_5'UTR|MRPL48_uc010rri.1_Silent_p.Y80Y|MRPL48_uc009ytu.2_5'UTR	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48 precursor	98					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						TGACTGCATATGATATGACCC	0.418												
SLCO2B1	11309	broad.mit.edu	37	11	74876980	74876980	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:74876980A>G	uc001owb.2	+	4	821	c.434A>G	c.(433-435)GAC>GGC	p.D145G	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.D29G|SLCO2B1_uc001owc.2_Missense_Mutation_p.D29G|SLCO2B1_uc001owd.2_Missense_Mutation_p.D123G	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	145	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	TACCGCTACGACAACACCAGC	0.622												
SERPINH1	871	broad.mit.edu	37	11	75280189	75280189	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:75280189T>C	uc001owr.2	+	4	1156	c.927T>C	c.(925-927)GGT>GGC	p.G309G	SERPINH1_uc009yuf.2_Silent_p.G309G|SERPINH1_uc009yug.2_Silent_p.G309G|SERPINH1_uc001ows.2_Silent_p.G309G|SERPINH1_uc001owt.2_Silent_p.G92G	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	309					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					TGCCCAAGGGTGTGGTGGAGG	0.607												
SERPINH1	871	broad.mit.edu	37	11	75283092	75283092	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:75283092C>T	uc001owr.2	+	5	1450	c.1221C>T	c.(1219-1221)GTC>GTT	p.V407V	SERPINH1_uc009yug.2_Silent_p.V407V|SERPINH1_uc001ows.2_Silent_p.V407V|SERPINH1_uc001owt.2_Silent_p.V190V	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	407					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					GGCGCCTGGTCCGGCCTAAGG	0.597												
THRSP	7069	broad.mit.edu	37	11	77774985	77774985	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:77774985T>C	uc001oyx.2	+	1	79	c.58T>C	c.(58-60)TAT>CAT	p.Y20H		NM_003251	NP_003242	Q92748	THRSP_HUMAN	thyroid hormone-responsive protein	20					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(1)	1	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CATGGACCGGTATGCAGCCGA	0.627												
ODZ4	26011	broad.mit.edu	37	11	78467937	78467937	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:78467937T>C	uc001ozl.3	-	19	3132	c.2669A>G	c.(2668-2670)AAC>AGC	p.N890S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	890	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGAGTGTAGGTTCTGCTGTGA	0.592												
PRCP	5547	broad.mit.edu	37	11	82550389	82550389	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:82550389A>G	uc001ozs.2	-	7	1113	c.1000T>C	c.(1000-1002)TAT>CAT	p.Y334H	PRCP_uc001ozr.2_Missense_Mutation_p.Y355H	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	334	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TAATTGTAATATACATTCAGA	0.378												
TMEM126B	55863	broad.mit.edu	37	11	85345229	85345229	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:85345229T>C	uc001pao.2	+	4	465	c.213T>C	c.(211-213)CAT>CAC	p.H71H	TMEM126B_uc001pan.1_Silent_p.H71H|TMEM126B_uc001pap.2_Silent_p.H71H|TMEM126B_uc001paq.1_Silent_p.H71H	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	101						integral to membrane					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGGTTAAACATGATGCTTTGA	0.368												
CTSC	1075	broad.mit.edu	37	11	88027562	88027562	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:88027562T>A	uc001pck.3	-	7	1105	c.1004A>T	c.(1003-1005)GAA>GTA	p.E335V	CTSC_uc001pcl.3_Missense_Mutation_p.E187V	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	335					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAGCAGTCTTCCTTCATTTT	0.473												
FAT3	120114	broad.mit.edu	37	11	92087727	92087727	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:92087727C>A	uc001pdj.3	+	1	2466	c.2449C>A	c.(2449-2451)CTG>ATG	p.L817M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	817	Extracellular (Potential).|Cadherin 7.				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)				ATGGAGACTGCTGACCATCAA	0.398										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92533129	92533129	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:92533129A>G	uc001pdj.3	+	9	6967	c.6950A>G	c.(6949-6951)GAA>GGA	p.E2317G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2317	Cadherin 21.|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)				GCAGACTCAGAAAACAATAAA	0.383										TCGA Ovarian(4;0.039)		
HEPHL1	341208	broad.mit.edu	37	11	93837857	93837857	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:93837857A>G	uc001pep.2	+	16	3003	c.2846A>G	c.(2845-2847)AAC>AGC	p.N949S	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	949	Extracellular (Potential).|Plastocyanin-like 6.				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)				AAGTATCTCAACAAAGATCCA	0.348												
PANX1	24145	broad.mit.edu	37	11	93911695	93911695	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:93911695G>A	uc001per.2	+	3	867	c.482G>A	c.(481-483)CGT>CAT	p.R161H	PANX1_uc001peq.2_Missense_Mutation_p.R161H	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	161	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGAGTGCGCGTGACCTTGAC	0.483												
FUT4	2526	broad.mit.edu	37	11	94278118	94278118	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:94278118A>G	uc001pez.2	+	1	1102	c.819A>G	c.(817-819)GCA>GCG	p.A273A	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	273	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			skin(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGAGGAGGCAGCGGCGGCGG	0.731												
ENDOD1	23052	broad.mit.edu	37	11	94862256	94862256	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:94862256T>C	uc001pfh.2	+	2	1091	c.1016T>C	c.(1015-1017)TTC>TCC	p.F339S		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	339						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GCTACCCCATTCATCAAGCTT	0.428												
CEP57	9702	broad.mit.edu	37	11	95561052	95561052	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:95561052A>G	uc001pfp.1	+	9	1209	c.988A>G	c.(988-990)ATT>GTT	p.I330V	CEP57_uc010ruh.1_Missense_Mutation_p.I321V|CEP57_uc010rui.1_Missense_Mutation_p.I304V|CEP57_uc009ywn.1_Missense_Mutation_p.I178V|CEP57_uc001pfq.1_Missense_Mutation_p.I304V|CEP57_uc001pfr.1_Missense_Mutation_p.I178V	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	330	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATCAACAGTATTCCTTTGGC	0.443									Mosaic_Variegated_Aneuploidy_Syndrome			
KIAA1377	57562	broad.mit.edu	37	11	101834511	101834511	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:101834511A>T	uc001pgm.2	+	6	3015	c.2745A>T	c.(2743-2745)GAA>GAT	p.E915D	KIAA1377_uc001pgn.2_Missense_Mutation_p.E871D|KIAA1377_uc010run.1_Missense_Mutation_p.E716D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E716D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	915							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTGTTTGTGAAGAAAGTTATC	0.418												
PDGFD	80310	broad.mit.edu	37	11	103866871	103866871	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:103866871C>T	uc001phq.2	-	3	804	c.432G>A	c.(430-432)ACG>ACA	p.T144T	PDGFD_uc001php.2_Silent_p.T138T	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	144	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAATTTGGTTCGTTCTTGATT	0.368												
DDI1	414301	broad.mit.edu	37	11	103907980	103907980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:103907980G>A	uc001phr.2	+	1	673	c.430G>A	c.(430-432)GCC>ACC	p.A144T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	144					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGCAGCCCCGCCCTGATCCG	0.672												
CASP4	837	broad.mit.edu	37	11	104820474	104820474	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:104820474T>C	uc001pid.1	-	5	650	c.577A>G	c.(577-579)ACC>GCC	p.T193A	CASP4_uc001pib.1_Missense_Mutation_p.T137A|CASP4_uc009yxg.1_Missense_Mutation_p.T102A|CASP4_uc010rux.1_Missense_Mutation_p.T193A	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	193					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCTGGTCTGGTAGCAAATGCC	0.463												
ALKBH8	91801	broad.mit.edu	37	11	107403026	107403026	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107403026C>A	uc010rvr.1	-	8	953	c.878G>T	c.(877-879)GGA>GTA	p.G293V	ALKBH8_uc001pjk.2_Missense_Mutation_p.G41V|ALKBH8_uc010rvq.1_Missense_Mutation_p.G156V|ALKBH8_uc009yxp.2_Missense_Mutation_p.G293V|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	293	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAATACATACCCATGGGTCCA	0.463												
ALKBH8	91801	broad.mit.edu	37	11	107403094	107403094	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107403094C>T	uc010rvr.1	-	8	885	c.810G>A	c.(808-810)GTG>GTA	p.V270V	ALKBH8_uc001pjk.2_Silent_p.V18V|ALKBH8_uc010rvq.1_Silent_p.V133V|ALKBH8_uc009yxp.2_Silent_p.V270V|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	270	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		ACATAACTGGCACTGCAATGC	0.388												
CUL5	8065	broad.mit.edu	37	11	107968446	107968446	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107968446T>C	uc001pjv.2	+	17	2656	c.1989T>C	c.(1987-1989)GGT>GGC	p.G663G	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	663					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTACAGAAGGTACCCTCTTCT	0.363												
NPAT	4863	broad.mit.edu	37	11	108044308	108044308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108044308G>A	uc001pjz.3	-	13	1505	c.1403C>T	c.(1402-1404)GCT>GTT	p.A468V	NPAT_uc001pka.2_Missense_Mutation_p.A263V	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	468					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTATAATTCAGCACAATGTGG	0.378												
ATM	472	broad.mit.edu	37	11	108098363	108098363	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108098363A>G	uc001pkb.1	+	2	397	c.12A>G	c.(10-12)GTA>GTG	p.V4V	ATM_uc009yxr.1_Silent_p.V4V|ATM_uc001pkc.1_Silent_p.V4V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	4					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAGTCTAGTACTTAATGATC	0.269			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
ATM	472	broad.mit.edu	37	11	108168081	108168081	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108168081A>G	uc001pkb.1	+	33	5362	c.4977A>G	c.(4975-4977)ATA>ATG	p.I1659M	ATM_uc009yxr.1_Missense_Mutation_p.I1659M|ATM_uc001pke.1_Missense_Mutation_p.I311M|ATM_uc001pkg.1_Missense_Mutation_p.I16M	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1659					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGATGGCAATAAACCACACTG	0.209			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
DDX10	1662	broad.mit.edu	37	11	108559696	108559696	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:108559696C>T	uc001pkm.2	+	7	947	c.882C>T	c.(880-882)GTC>GTT	p.V294V	DDX10_uc001pkl.1_Silent_p.V294V	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	294	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTACATAGTCTGTGAGCTGC	0.378			T	NUP98	AML*							
POU2AF1	5450	broad.mit.edu	37	11	111228205	111228205	+	Missense_Mutation	SNP	T	T	C	rs1042750		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111228205T>C	uc001plg.3	-	4	676	c.421A>G	c.(421-423)ACC>GCC	p.T141A		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	141					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GAGGCATAGGTCAACACTGAG	0.577			T	BCL6	NHL							
C11orf88	399949	broad.mit.edu	37	11	111385697	111385697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111385697G>A	uc001pln.3	+	1	188	c.188G>A	c.(187-189)CGT>CAT	p.R63H	BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R63H|C11orf88_uc001plo.1_Missense_Mutation_p.R63H	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN	hypothetical protein LOC399949 isoform 2	63											0						AGCAGTCAGCGTCTGCCGGTG	0.592											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SIK2	23235	broad.mit.edu	37	11	111558769	111558769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111558769C>T	uc001plt.2	+	4	479	c.361C>T	c.(361-363)CGA>TGA	p.R121*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	121	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TGAAGCCAGGCGAAAATTCTG	0.398												
PPP2R1B	5519	broad.mit.edu	37	11	111618736	111618736	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:111618736A>G	uc001plx.1	-	11	1425	c.1341T>C	c.(1339-1341)GGT>GGC	p.G447G	PPP2R1B_uc001plw.1_Silent_p.G447G|PPP2R1B_uc010rwi.1_Silent_p.G383G|PPP2R1B_uc010rwj.1_Silent_p.G286G|PPP2R1B_uc010rwk.1_Silent_p.G402G|PPP2R1B_uc010rwl.1_Silent_p.G320G	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	447	HEAT 11.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAATTCCACACCCTACAGAT	0.348												
DRD2	1813	broad.mit.edu	37	11	113295190	113295190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:113295190C>T	uc001pnz.2	-	1	505	c.184G>A	c.(184-186)GAG>AAG	p.E62K	DRD2_uc010rwv.1_Missense_Mutation_p.E62K|DRD2_uc001poa.3_Missense_Mutation_p.E62K|DRD2_uc001pob.3_Missense_Mutation_p.E62K|DRD2_uc009yyr.1_Missense_Mutation_p.E62K	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	62	Cytoplasmic (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGCGCCTTCTCGCGGGACACA	0.612												
USP28	57646	broad.mit.edu	37	11	113685907	113685907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:113685907T>C	uc001poh.2	-	14	1694	c.1661A>G	c.(1660-1662)CAA>CGA	p.Q554R	USP28_uc001pog.2_Missense_Mutation_p.Q262R|USP28_uc010rwy.1_Missense_Mutation_p.Q429R|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.Q554R	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	554					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTGTATATCTTGTTCAATCTC	0.403												
CADM1	23705	broad.mit.edu	37	11	115110994	115110994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:115110994G>A	uc001ppi.3	-	2	400	c.271C>T	c.(271-273)CCT>TCT	p.P91S	CADM1_uc001ppf.3_Missense_Mutation_p.P91S|CADM1_uc001ppk.3_Missense_Mutation_p.P91S|CADM1_uc001ppj.3_Missense_Mutation_p.P91S|CADM1_uc001ppl.2_Missense_Mutation_p.P91S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	91	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GGAAACTTACGCCTGAAGTCC	0.398												
TAGLN	6876	broad.mit.edu	37	11	117073840	117073840	+	Silent	SNP	G	G	A	rs140777664		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117073840G>A	uc001pqm.2	+	2	232	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Silent_p.Q37Q|TAGLN_uc001pqo.2_Silent_p.Q37Q|TAGLN_uc001pqp.2_Silent_p.Q37Q|uc001pqq.1_5'Flank	NM_003186	NP_003177	Q01995	TAGL_HUMAN	transgelin	37	CH.				muscle organ development	cytoplasm	actin binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		TCATAGTGCAGTGTGGCCCTG	0.622												
PCSK7	9159	broad.mit.edu	37	11	117090382	117090382	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117090382T>C	uc001pqr.2	-	10	1449	c.1248A>G	c.(1246-1248)ATA>ATG	p.I416M		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	416	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCATTAAGGCTATCATGCCAG	0.602			T	IGH@	MLCLS							
CEP164	22897	broad.mit.edu	37	11	117266307	117266307	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:117266307G>A	uc001prc.2	+	24	3105	c.2958G>A	c.(2956-2958)GAG>GAA	p.E986E	CEP164_uc001prb.2_Silent_p.E989E|CEP164_uc010rxk.1_Silent_p.E960E|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.E419E	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	986					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACAGAAGGAGCACACCCACC	0.572												
PHLDB1	23187	broad.mit.edu	37	11	118516286	118516286	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118516286C>T	uc001ptr.1	+	17	3687	c.3334C>T	c.(3334-3336)CTG>TTG	p.L1112L	PHLDB1_uc001pts.2_Silent_p.L1112L|PHLDB1_uc001ptt.2_Silent_p.L1065L|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.L927L|PHLDB1_uc001ptw.1_Silent_p.L467L|PHLDB1_uc009zai.1_Silent_p.L148L|PHLDB1_uc001ptx.1_Silent_p.L148L|PHLDB1_uc010ryi.1_Silent_p.L255L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1112											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTATGATACGCTGAGTCTGGA	0.657												
BCL9L	283149	broad.mit.edu	37	11	118770905	118770905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118770905T>C	uc001pug.2	-	7	4092	c.3127A>G	c.(3127-3129)ACC>GCC	p.T1043A	BCL9L_uc009zal.2_Missense_Mutation_p.T1038A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1043	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			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)		GGCGGGAGGGTACCTACAGAA	0.627												
HYOU1	10525	broad.mit.edu	37	11	118925262	118925262	+	Missense_Mutation	SNP	C	C	T	rs139437097	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118925262C>T	uc001puu.2	-	7	815	c.622G>A	c.(622-624)GCC>ACC	p.A208T	HYOU1_uc001put.2_Missense_Mutation_p.A173T|HYOU1_uc010ryu.1_Missense_Mutation_p.A228T|HYOU1_uc010ryv.1_Missense_Mutation_p.A97T|HYOU1_uc001pux.3_Missense_Mutation_p.A208T|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A208T	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	208						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGGGCAGTGGCGGTGTTGTCA	0.587												
HINFP	25988	broad.mit.edu	37	11	119003653	119003653	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119003653T>C	uc001pvp.2	+	9	1144	c.955T>C	c.(955-957)TGC>CGC	p.C319R	HINFP_uc001pvq.2_Missense_Mutation_p.C319R|HINFP_uc001pvr.2_Missense_Mutation_p.C72R	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	319	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TTTTGAGAACTGCACCTTCAG	0.517												
POU2F3	25833	broad.mit.edu	37	11	120175748	120175748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120175748C>T	uc001pxc.2	+	7	556	c.454C>T	c.(454-456)CAC>TAC	p.H152Y	POU2F3_uc010rzk.1_Missense_Mutation_p.H106Y|POU2F3_uc010rzl.1_Missense_Mutation_p.H82Y|POU2F3_uc001pxe.1_5'Flank	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	152					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGCATTTGGGCACCCTGGGCT	0.458												
ARHGEF12	23365	broad.mit.edu	37	11	120343776	120343776	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120343776G>A	uc001pxl.1	+	31	2980	c.2973G>A	c.(2971-2973)CAG>CAA	p.Q991Q	ARHGEF12_uc009zat.2_Silent_p.Q972Q|ARHGEF12_uc010rzn.1_Silent_p.Q888Q|ARHGEF12_uc009zau.1_Silent_p.Q888Q	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	991					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGATTATCAGCGTCGCCTTG	0.318			T	MLL	AML							
SORL1	6653	broad.mit.edu	37	11	121481852	121481852	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:121481852G>A	uc001pxx.2	+	39	5387	c.5307G>A	c.(5305-5307)ATG>ATA	p.M1769I	SORL1_uc010rzp.1_Missense_Mutation_p.M615I|SORL1_uc010rzq.1_Missense_Mutation_p.M384I	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1769	Extracellular (Potential).|Fibronectin type-III 3.				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)		CCCTGACCATGGAGAGTGATA	0.418												
C11orf63	79864	broad.mit.edu	37	11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:122774696G>T	uc001pym.2	+	3	705	c.408G>T	c.(406-408)AAG>AAT	p.K136N	C11orf63_uc001pyl.1_Missense_Mutation_p.K136N	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	136										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)		AGAGTAAGAAGGAGGAAGGGC	0.512												
HSPA8	3312	broad.mit.edu	37	11	122931470	122931470	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:122931470G>C	uc001pyo.2	-	3	320	c.242C>G	c.(241-243)GCT>GGT	p.A81G	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.A81G|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Missense_Mutation_p.A81G|HSPA8_uc010rzv.1_Missense_Mutation_p.A81G	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	81					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGGACAACAGCATCATCAAA	0.423												
OR6M1	390261	broad.mit.edu	37	11	123676424	123676424	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123676424T>C	uc010rzz.1	-	1	634	c.634A>G	c.(634-636)ACT>GCT	p.T212A		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGGACCCAGTAGTGAATGCC	0.488												
OR4D5	219875	broad.mit.edu	37	11	123810556	123810556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123810556C>T	uc001pzk.1	+	1	233	c.233C>T	c.(232-234)GCA>GTA	p.A78V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCATCACAGCACCTAGGATG	0.478												
OR10S1	219873	broad.mit.edu	37	11	123847770	123847770	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:123847770T>C	uc001pzm.1	-	1	629	c.629A>G	c.(628-630)GAG>GGG	p.E210G		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGACTAGCTCATTAATGGT	0.542												
OR8D1	283159	broad.mit.edu	37	11	124180293	124180293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124180293C>T	uc010sag.1	-	1	370	c.370G>A	c.(370-372)GTT>ATT	p.V124I		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGATGGCAACATAGCGATCA	0.493												
PANX3	116337	broad.mit.edu	37	11	124487357	124487357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124487357C>T	uc001qah.2	+	3	512	c.512C>T	c.(511-513)CCC>CTC	p.P171L		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	171	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGTTCCGACCCCTATGTGTTC	0.448												
ESAM	90952	broad.mit.edu	37	11	124624154	124624154	+	Silent	SNP	G	G	A	rs143828847		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:124624154G>A	uc001qav.3	-	6	986	c.813C>T	c.(811-813)TAC>TAT	p.Y271Y	VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Silent_p.Y92Y|ESAM_uc001qau.3_Silent_p.Y198Y|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Silent_p.Y271Y	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	271	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCGGCGGTGGTACAAGAGGA	0.627												
CDON	50937	broad.mit.edu	37	11	125887164	125887164	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:125887164C>T	uc009zbw.2	-	6	875	c.747G>A	c.(745-747)CCG>CCA	p.P249P	CDON_uc001qdc.3_Silent_p.P249P|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.P249P	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	249	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTGAGGAGCCGGGACCCCAC	0.517												
RPUSD4	84881	broad.mit.edu	37	11	126081527	126081527	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:126081527C>A	uc001qde.2	-	1	61	c.7G>T	c.(7-9)GCG>TCG	p.A3S	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.A3S|RPUSD4_uc009zby.2_RNA	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	3					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CACCTGGGCGCCGCCATCTTA	0.662												
KIRREL3	84623	broad.mit.edu	37	11	126396434	126396434	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:126396434T>C	uc001qea.2	-	3	643	c.282A>G	c.(280-282)TCA>TCG	p.S94S	KIRREL3_uc001qeb.2_Silent_p.S94S|KIRREL3_uc001qec.1_Silent_p.S94S	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	94	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GGTACTCACTTGAGAGGTCCC	0.597												
ETS1	2113	broad.mit.edu	37	11	128350194	128350194	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:128350194G>T	uc010sbs.1	-	6	1199	c.883C>A	c.(883-885)CTG>ATG	p.L295M	ETS1_uc001qej.2_Missense_Mutation_p.L339M|ETS1_uc009zch.2_Missense_Mutation_p.L79M|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	295					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGGTTGGGCAGGGCAGCCGGA	0.582												
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:130281492C>T	uc001qgg.3	-	6	1928	c.1570G>A	c.(1570-1572)GTG>ATG	p.V524M	ADAMTS8_uc001qgf.2_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577												
IGSF9B	22997	broad.mit.edu	37	11	133790518	133790518	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:133790518C>T	uc001qgx.3	-	18	3333	c.3102G>A	c.(3100-3102)GGG>GGA	p.G1034G		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1034	Pro-rich.|Cytoplasmic (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)		CAGGGGAGCGCCCTCCTGTAG	0.662												
CACNA1C	775	broad.mit.edu	37	12	2162730	2162730	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:2162730T>C	uc009zdu.1	+	1	315	c.2T>C	c.(1-3)ATG>ACG	p.M1T	CACNA1C_uc009zdv.1_Missense_Mutation_p.M1T|CACNA1C_uc001qkb.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkc.2_Missense_Mutation_p.M1T|CACNA1C_uc001qke.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkf.2_Missense_Mutation_p.M1T|CACNA1C_uc001qjz.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkd.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkg.2_Missense_Mutation_p.M1T|CACNA1C_uc009zdw.1_Missense_Mutation_p.M1T|CACNA1C_uc001qkh.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkl.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkn.2_Missense_Mutation_p.M1T|CACNA1C_uc001qko.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkp.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkr.2_Missense_Mutation_p.M1T|CACNA1C_uc001qku.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkq.2_Missense_Mutation_p.M1T|CACNA1C_uc001qks.2_Missense_Mutation_p.M1T|CACNA1C_uc001qkt.2_Missense_Mutation_p.M1T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1	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)	TTTTGGTCCATGGTCAATGAG	0.562												
NDUFA9	4704	broad.mit.edu	37	12	4791406	4791406	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:4791406A>T	uc001qnc.2	+	9	846	c.836A>T	c.(835-837)TAC>TTC	p.Y279F	NDUFA9_uc010ses.1_Missense_Mutation_p.Y60F	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CTGGTGAAGTACATCTTTGCT	0.428												
GALNT8	26290	broad.mit.edu	37	12	4848407	4848407	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:4848407T>C	uc001qne.1	+	3	680	c.588T>C	c.(586-588)ATT>ATC	p.I196I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	196	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						CTCTGTCCATTATACAACGGG	0.438												
VWF	7450	broad.mit.edu	37	12	6230409	6230409	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6230409A>G	uc001qnn.1	-	3	401	c.151T>C	c.(151-153)TAC>CAC	p.Y51H	VWF_uc010set.1_Missense_Mutation_p.Y51H|VWF_uc001qno.1_Missense_Mutation_p.Y88H	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	51	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCAAAGCTGTACATGCTCCCA	0.562												
CHD4	1108	broad.mit.edu	37	12	6696642	6696642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6696642C>T	uc001qpo.2	-	25	3951	c.3787G>A	c.(3787-3789)GAT>AAT	p.D1263N	CHD4_uc001qpn.2_Missense_Mutation_p.D1256N|CHD4_uc001qpp.2_Missense_Mutation_p.D1260N	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1263					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCAGTCTCATCCTGGTTACGG	0.448												
CHD4	1108	broad.mit.edu	37	12	6700956	6700956	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:6700956G>A	uc001qpo.2	-	21	3290	c.3126C>T	c.(3124-3126)GGC>GGT	p.G1042G	CHD4_uc001qpn.2_Silent_p.G1035G|CHD4_uc001qpp.2_Silent_p.G1039G	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1042					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTAGGGCACTGCCATCATACA	0.448												
ENO2	2026	broad.mit.edu	37	12	7031312	7031312	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7031312G>A	uc001qru.1	+	10	1383	c.1161G>A	c.(1159-1161)GGG>GGA	p.G387G	ENO2_uc009zfi.1_Silent_p.G387G|ENO2_uc010sfq.1_Silent_p.G344G|ENO2_uc001qrv.1_Silent_p.G387G|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	387					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						TGGTGGTGGGGCTGTGCACAG	0.572												
PTPN6	5777	broad.mit.edu	37	12	7069334	7069334	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7069334T>C	uc001qsb.2	+	13	1755	c.1513T>C	c.(1513-1515)TAC>CAC	p.Y505H	PTPN6_uc001qsa.1_Missense_Mutation_p.Y507H|PTPN6_uc010sfr.1_Missense_Mutation_p.Y466H|PTPN6_uc009zfl.1_Missense_Mutation_p.Y505H|PTPN6_uc010sfs.1_Missense_Mutation_p.Y493H	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	505	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						GGAGGCGCAGTACAAGTTCAT	0.627												
SLC2A3	6515	broad.mit.edu	37	12	8083863	8083863	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8083863A>G	uc001qtr.2	-	4	750	c.488T>C	c.(487-489)GTT>GCT	p.V163A	SLC2A3_uc001qts.2_Missense_Mutation_p.V163A	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	163	Helical; Name=5; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		AATTCCAACAACGATGCCCAG	0.433												
C3AR1	719	broad.mit.edu	37	12	8211659	8211659	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8211659T>C	uc001qtv.1	-	2	1215	c.1123A>G	c.(1123-1125)ACC>GCC	p.T375A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	375	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)		ACTCGAAAGGTTTTGCTCTGA	0.512												
A2ML1	144568	broad.mit.edu	37	12	8982328	8982328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:8982328T>C	uc001quz.3	+	4	513	c.415T>C	c.(415-417)TTC>CTC	p.F139L		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						TCCAGTGTATTTCCGCATTGT	0.383												
CLEC1A	51267	broad.mit.edu	37	12	10233996	10233996	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:10233996C>T	uc001qxb.2	-	3	315	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.Q34Q|CLEC1A_uc010sgx.1_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	77	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						TATTGGAGAGCTGGTAGTACT	0.363												
KLRD1	3824	broad.mit.edu	37	12	10466091	10466091	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:10466091G>A	uc001qxw.3	+	6	595	c.398G>A	c.(397-399)GGC>GAC	p.G133D	KLRD1_uc001qxx.3_Missense_Mutation_p.G133D|KLRD1_uc001qxy.3_Missense_Mutation_p.G102D|KLRD1_uc009zhh.2_Missense_Mutation_p.G112D|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.G134D	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,	133	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						TGGGAGAATGGCTCTGCACTC	0.428												
TAS2R30	259293	broad.mit.edu	37	12	11286312	11286312	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:11286312T>C	uc009zhs.1	-	1	532	c.532A>G	c.(532-534)ACT>GCT	p.T178A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0						ATGGTTAGAGTCATATTTGAA	0.383												
MANSC1	54682	broad.mit.edu	37	12	12483242	12483242	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:12483242T>C	uc001rai.1	-	4	1273	c.1015A>G	c.(1015-1017)ACT>GCT	p.T339A	MANSC1_uc010shm.1_Missense_Mutation_p.T273A|MANSC1_uc001raj.1_Missense_Mutation_p.T305A|MANSC1_uc009zht.1_Missense_Mutation_p.T258A	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	339	Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GAAAGTGCAGTAGGGTTATAC	0.478												
DDX47	51202	broad.mit.edu	37	12	12974332	12974332	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:12974332T>C	uc001rav.2	+	6	968	c.370_splice	c.e6+2	p.A124_splice	DDX47_uc009zhw.1_Splice_Site_p.A124_splice|DDX47_uc001rax.2_Splice_Site_p.A124_splice|DDX47_uc001ray.2_Splice_Site_p.A124_splice|DDX47_uc010shn.1_Silent_p.G124G	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TGCAGAGTGGTAAGTGTCTGA	0.488												
GRIN2B	2904	broad.mit.edu	37	12	13715758	13715758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:13715758G>A	uc001rbt.2	-	13	4593	c.4414C>T	c.(4414-4416)CAT>TAT	p.H1472Y		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1472	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)	TCATAAACATGCCCATTGCTG	0.512												
ERP27	121506	broad.mit.edu	37	12	15068460	15068460	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:15068460T>C	uc001rco.2	-	6	758	c.737A>G	c.(736-738)CAA>CGA	p.Q246R		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor	246						endoplasmic reticulum lumen				breast(1)	1						ACAAAAGTTTTGCACATGCTC	0.413												
ABCC9	10060	broad.mit.edu	37	12	22025570	22025570	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:22025570A>G	uc001rfi.1	-	16	2207	c.2187T>C	c.(2185-2187)GTT>GTC	p.V729V	ABCC9_uc001rfh.2_Silent_p.V729V|ABCC9_uc001rfj.1_Silent_p.V693V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	729	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTCCAGTGAACTTTTCCTT	0.408												
KRAS	3845	broad.mit.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:25378562C>T	uc001rgp.1	-	4	617	c.436G>A	c.(436-438)GCA>ACA	p.A146T	KRAS_uc001rgq.1_Missense_Mutation_p.A146T	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	146			A -> T (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.A146T(46)|p.A146V(12)|p.A146P(3)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(LS1034_LARGE_INTESTINE)|A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
RASSF8	11228	broad.mit.edu	37	12	26217646	26217646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26217646C>T	uc001rgx.2	+	3	540	c.319C>T	c.(319-321)CCC>TCC	p.P107S	RASSF8_uc001rgy.2_Missense_Mutation_p.P107S|RASSF8_uc001rgz.2_Missense_Mutation_p.P107S|RASSF8_uc009zjd.1_Missense_Mutation_p.P107S|RASSF8_uc009zje.1_Missense_Mutation_p.P107S	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	107					signal transduction						0	Colorectal(261;0.0847)					GCAGAGTCTGCCCCCCTTAGC	0.478												
ITPR2	3709	broad.mit.edu	37	12	26818903	26818903	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26818903A>G	uc001rhg.2	-	14	1908	c.1491T>C	c.(1489-1491)GTT>GTC	p.V497V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	497	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GCTTAGTGATAACCACATCCA	0.333												
C12orf11	55726	broad.mit.edu	37	12	27070614	27070614	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:27070614T>C	uc001rhk.3	-	9	1479	c.942A>G	c.(940-942)ATA>ATG	p.I314M	C12orf11_uc001rhj.3_Translation_Start_Site|C12orf11_uc010sjk.1_Missense_Mutation_p.I213M	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	314					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					ACTTTAATGTTATTGTTTCTT	0.313												
KLHDC5	57542	broad.mit.edu	37	12	27944677	27944677	+	Silent	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:27944677C>G	uc001rij.2	+	2	986	c.909C>G	c.(907-909)CTC>CTG	p.L303L	KLHDC5_uc009zjj.2_RNA	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	kelch domain containing 5	303	Kelch 3.									ovary(1)|central_nervous_system(1)	2	Lung SC(9;0.0873)					ATTCAAAACTCTATGCCATCG	0.468												
IPO8	10526	broad.mit.edu	37	12	30833414	30833414	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:30833414A>G	uc001rjd.2	-	5	809	c.639_splice	c.e5+1	p.Q213_splice		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATAGAAACCTACCTGAACAAG	0.249												
BICD1	636	broad.mit.edu	37	12	32369202	32369202	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:32369202A>G	uc001rku.2	+	2	316	c.235A>G	c.(235-237)ATC>GTC	p.I79V	BICD1_uc001rkv.2_Missense_Mutation_p.I79V|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	79	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTCCTTCTCCATCCACCGGAA	0.463												
PKP2	5318	broad.mit.edu	37	12	33031026	33031026	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:33031026G>A	uc001rlj.3	-	3	903	c.788C>T	c.(787-789)ACG>ATG	p.T263M	PKP2_uc001rlk.3_Missense_Mutation_p.T263M|PKP2_uc010skj.1_Missense_Mutation_p.T263M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	263					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)					GAGCCCTGCCGTCAGGTAGTT	0.642												
SYT10	341359	broad.mit.edu	37	12	33538209	33538209	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:33538209A>G	uc001rll.1	-	4	1392	c.1095T>C	c.(1093-1095)GGT>GGC	p.G365G	SYT10_uc009zju.1_Silent_p.G175G	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	365	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)					ACATGATTTCACCCAGGTCTA	0.393												
ALG10	84920	broad.mit.edu	37	12	34179676	34179676	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:34179676T>C	uc001rlm.2	+	3	1567	c.1248T>C	c.(1246-1248)CGT>CGC	p.R416R		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	416	Extracellular (Potential).				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			skin(1)	1	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)				TGGAATTTCGTTACTTCATTT	0.348												
LRRK2	120892	broad.mit.edu	37	12	40677751	40677751	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:40677751A>G	uc001rmg.3	+	19	2437	c.2316A>G	c.(2314-2316)CGA>CGG	p.R772R	LRRK2_uc001rmh.1_Silent_p.R394R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	772					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)				AAGATGTACGAAAAGCGTTGA	0.423												
CNTN1	1272	broad.mit.edu	37	12	41414173	41414173	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41414173A>C	uc001rmm.1	+	20	2567	c.2454A>C	c.(2452-2454)AAA>AAC	p.K818N	CNTN1_uc001rmn.1_Missense_Mutation_p.K807N	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	818	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGGTGTAAAAGTCTTATCAT	0.303												
CNTN1	1272	broad.mit.edu	37	12	41414195	41414195	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41414195T>A	uc001rmm.1	+	20	2589	c.2476T>A	c.(2476-2478)TCT>ACT	p.S826T	CNTN1_uc001rmn.1_Missense_Mutation_p.S815T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	826	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTGAGATATCTGTTCATTG	0.289												
CNTN1	1272	broad.mit.edu	37	12	41419019	41419019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:41419019A>G	uc001rmm.1	+	21	2704	c.2591A>G	c.(2590-2592)TAC>TGC	p.Y864C	CNTN1_uc001rmn.1_Missense_Mutation_p.Y853C	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	864	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCCAAGAGTACTCGGCCAGG	0.488												
ZCRB1	85437	broad.mit.edu	37	12	42707747	42707747	+	Silent	SNP	G	G	A	rs74439664	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:42707747G>A	uc001rmz.2	-	6	584	c.375C>T	c.(373-375)CTC>CTT	p.L125L	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	125					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		CACGTTCTCCGAGCATATTTT	0.308												
ZCRB1	85437	broad.mit.edu	37	12	42711240	42711240	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:42711240T>C	uc001rmz.2	-	5	444	c.235A>G	c.(235-237)AGA>GGA	p.R79G	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	79	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTTATCACTCTACCAAATAAC	0.313												
IRAK4	51135	broad.mit.edu	37	12	44171500	44171500	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:44171500T>C	uc001rnu.3	+	8	914	c.784T>C	c.(784-786)TAT>CAT	p.Y262H	IRAK4_uc001rnt.3_Missense_Mutation_p.Y262H|IRAK4_uc001rnx.3_Missense_Mutation_p.Y138H|IRAK4_uc001rny.3_Missense_Mutation_p.Y138H|IRAK4_uc010sky.1_Missense_Mutation_p.Y138H|IRAK4_uc001rnv.3_Missense_Mutation_p.Y138H|IRAK4_uc001rnw.3_Missense_Mutation_p.Y138H	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	262	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTGCTTAGTATATGTTTACAT	0.338												
ANO6	196527	broad.mit.edu	37	12	45797269	45797269	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:45797269A>G	uc001roo.2	+	15	2165	c.1830A>G	c.(1828-1830)ATA>ATG	p.I610M	ANO6_uc010sld.1_Missense_Mutation_p.I610M|ANO6_uc010sle.1_Missense_Mutation_p.I610M|ANO6_uc010slf.1_Missense_Mutation_p.I631M|ANO6_uc010slg.1_Missense_Mutation_p.I592M	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	610	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AGCTGACAATAATCATGGGAG	0.368												
ANO6	196527	broad.mit.edu	37	12	45814903	45814903	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:45814903A>G	uc001roo.2	+	18	2602	c.2267A>G	c.(2266-2268)TAC>TGC	p.Y756C	ANO6_uc010sld.1_Missense_Mutation_p.Y756C|ANO6_uc010sle.1_Missense_Mutation_p.Y756C|ANO6_uc010slf.1_Missense_Mutation_p.Y777C|ANO6_uc010slg.1_Missense_Mutation_p.Y738C	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	756	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						CTAGTGTACTACTGGTCCTTC	0.448												
SLC38A4	55089	broad.mit.edu	37	12	47163208	47163208	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:47163208G>A	uc001rpi.2	-	15	1702	c.1303C>T	c.(1303-1305)CGT>TGT	p.R435C	SLC38A4_uc001rpj.2_Missense_Mutation_p.R435C	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	435	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					ACTGATGTACGAATCTTAAAC	0.348												
HDAC7	51564	broad.mit.edu	37	12	48183605	48183605	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48183605A>G	uc010slo.1	-	17	2277	c.2082T>C	c.(2080-2082)CGT>CGC	p.R694R	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Silent_p.R128R|HDAC7_uc001rqj.3_Silent_p.R657R|HDAC7_uc001rqk.3_Silent_p.R677R|HDAC7_uc010slp.1_5'Flank	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	655	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|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)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CCTTTAGCTCACGAGAAGCCA	0.572												
VDR	7421	broad.mit.edu	37	12	48251368	48251368	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48251368C>T	uc001rqm.2	-	6	663	c.381G>A	c.(379-381)GAG>GAA	p.E127E	VDR_uc001rql.2_Silent_p.E177E|VDR_uc001rqn.2_Silent_p.E127E|VDR_uc010slq.1_Silent_p.E95E	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	127	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCGCTGCTGCTCCTCAGACA	0.582												
MLL2	8085	broad.mit.edu	37	12	49425292	49425292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49425292A>G	uc001rta.3	-	39	13196	c.13196T>C	c.(13195-13197)CTG>CCG	p.L4399P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4399					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						CACCTGGTCCAGATGCCCAGG	0.582			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49435307	49435307	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49435307G>A	uc001rta.3	-	31	6246	c.6246C>T	c.(6244-6246)AGC>AGT	p.S2082S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2082					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						TGTTGATCTGGCTCTCAGCCT	0.652			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
DHH	50846	broad.mit.edu	37	12	49484937	49484937	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49484937T>C	uc001rtf.2	-	2	846	c.539A>G	c.(538-540)AAC>AGC	p.N180S		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	180					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						GTGGACGTGGTTGCGGGACTC	0.592												
TROAP	10024	broad.mit.edu	37	12	49719633	49719633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49719633G>A	uc001rtx.3	+	5	766	c.599G>A	c.(598-600)GGC>GAC	p.G200D	TROAP_uc009zlh.2_Missense_Mutation_p.G200D|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	200					cell adhesion	cytoplasm				ovary(1)	1						GGACCTCGAGGCCGGACATTG	0.637												
KCNH3	23416	broad.mit.edu	37	12	49934785	49934785	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49934785C>T	uc001ruh.1	+	2	440	c.180C>T	c.(178-180)GTC>GTT	p.V60V	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	60	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GGGCTGAGGTCATGCAGCGGG	0.627												
AQP2	359	broad.mit.edu	37	12	50348487	50348487	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50348487C>T	uc001rvn.2	+	3	690	c.600C>T	c.(598-600)GAC>GAT	p.D200D	AQP2_uc009zll.1_5'Flank	NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	200	Extracellular (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						AATTTGATGACCACTGGGTAA	0.552												
RACGAP1	29127	broad.mit.edu	37	12	50387958	50387958	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50387958G>A	uc001rvt.2	-	14	1605	c.1295C>T	c.(1294-1296)CCT>CTT	p.P432L	RACGAP1_uc009zlm.1_Missense_Mutation_p.P432L|RACGAP1_uc001rvs.2_Missense_Mutation_p.P432L|RACGAP1_uc001rvu.2_Missense_Mutation_p.P432L	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	432	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						GGTCAGAAGAGGTTCTTTGAG	0.348												
LARP4	113251	broad.mit.edu	37	12	50869432	50869432	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:50869432A>T	uc001rwp.1	+	16	2104	c.1960A>T	c.(1960-1962)AAT>TAT	p.N654Y	LARP4_uc001rwo.1_Missense_Mutation_p.N660Y|LARP4_uc001rwq.1_Missense_Mutation_p.N583Y|LARP4_uc001rwr.1_Missense_Mutation_p.N583Y|LARP4_uc001rws.1_Missense_Mutation_p.N653Y|LARP4_uc009zlr.1_Missense_Mutation_p.N453Y|LARP4_uc001rwt.1_Missense_Mutation_p.N245Y	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	654							nucleotide binding|RNA binding			ovary(1)	1						AAATGAAGACAATGGAGCTCC	0.502												
TMPRSS12	283471	broad.mit.edu	37	12	51279163	51279163	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:51279163A>G	uc001rwx.3	+	4	834	c.787A>G	c.(787-789)ACT>GCT	p.T263A	TMPRSS12_uc001rwy.2_Missense_Mutation_p.T263A	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	263	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						AGCTTTTGATACTTGCAGGGT	0.373												
TFCP2	7024	broad.mit.edu	37	12	51497499	51497499	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:51497499A>G	uc001rxw.2	-	10	1473	c.1014T>C	c.(1012-1014)CAT>CAC	p.H338H	TFCP2_uc001rxv.1_Silent_p.H338H|TFCP2_uc009zlx.1_Silent_p.H287H|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Silent_p.H240H	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	338	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AACGATTTCGATGCAACCACT	0.383												
ACVRL1	94	broad.mit.edu	37	12	52309152	52309152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52309152G>A	uc001rzj.2	+	7	1199	c.916G>A	c.(916-918)GCG>ACG	p.A306T	ACVRL1_uc001rzk.2_Missense_Mutation_p.A306T|ACVRL1_uc010snm.1_Missense_Mutation_p.A132T	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	306	Cytoplasmic (Potential).|Protein kinase.		A -> P (in HHT2).		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)	AGCTGTGTCCGCGGCATGCGG	0.617									Hereditary_Hemorrhagic_Telangiectasia			
ACVRL1	94	broad.mit.edu	37	12	52312813	52312813	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52312813A>G	uc001rzj.2	+	9	1574	c.1291A>G	c.(1291-1293)AAT>GAT	p.N431D	ACVRL1_uc001rzk.2_Missense_Mutation_p.N431D|ACVRL1_uc010snm.1_Missense_Mutation_p.N257D	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	431	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	p.N431fs*8(1)		lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGTGGTGCCCAATGACCCCAG	0.557									Hereditary_Hemorrhagic_Telangiectasia			
KRT6A	3853	broad.mit.edu	37	12	52885376	52885376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:52885376C>T	uc001sam.2	-	2	894	c.685G>A	c.(685-687)GTC>ATC	p.V229I		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	229	Coil 1B.|Rod.				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)		CGTTCCCCGACAATGCTGTCC	0.567												
MFSD5	84975	broad.mit.edu	37	12	53647543	53647543	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53647543C>T	uc001sci.1	+	2	1115	c.924C>T	c.(922-924)CAC>CAT	p.H308H	MFSD5_uc001sch.1_Silent_p.H415H	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	308					transport	integral to membrane				skin(2)|ovary(1)	3						AGAGGTACCACCTTCAGCCCA	0.587												
AAAS	8086	broad.mit.edu	37	12	53701632	53701632	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53701632A>G	uc001scr.3	-	15	1576	c.1413T>C	c.(1411-1413)AGT>AGC	p.S471S	AAAS_uc001scs.3_Silent_p.S438S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	471					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						CACTCACCACACTGAGCAGGG	0.597												
SP1	6667	broad.mit.edu	37	12	53776296	53776296	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53776296T>C	uc001scw.2	+	3	662	c.565T>C	c.(565-567)TTT>CTT	p.F189L	SP1_uc010sog.1_Missense_Mutation_p.F182L	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	189	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAGCTGCAGTTTGCTGCCAC	0.488												
CALCOCO1	57658	broad.mit.edu	37	12	54115379	54115379	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:54115379C>T	uc001sef.2	-	6	774	c.630G>A	c.(628-630)GGG>GGA	p.G210G	CALCOCO1_uc010som.1_Silent_p.G177G|CALCOCO1_uc010son.1_Silent_p.G87G|CALCOCO1_uc001seh.2_Silent_p.G210G|CALCOCO1_uc009znd.2_Silent_p.G210G|CALCOCO1_uc001seg.2_Silent_p.G87G|CALCOCO1_uc010soo.1_Silent_p.G203G	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	210					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						CTGTGATCTCCCCATGGGACC	0.527												
ITGA7	3679	broad.mit.edu	37	12	56086971	56086971	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56086971G>T	uc001shh.2	-	20	2898	c.2678C>A	c.(2677-2679)CCT>CAT	p.P893H	ITGA7_uc001shg.2_Missense_Mutation_p.P889H|ITGA7_uc010sps.1_Missense_Mutation_p.P796H|ITGA7_uc009znw.2_Missense_Mutation_p.P136H|ITGA7_uc009znx.2_Missense_Mutation_p.P770H	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	933	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TTTCTGCCCAGGCCCCTGCCC	0.592												
DNAJC14	85406	broad.mit.edu	37	12	56221646	56221646	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56221646A>G	uc001shx.1	-	2	1001	c.797T>C	c.(796-798)GTA>GCA	p.V266A	DNAJC14_uc001shu.1_Missense_Mutation_p.V266A|DNAJC14_uc009zob.1_Missense_Mutation_p.V266A|DNAJC14_uc001shy.1_Missense_Mutation_p.V266A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	266	Helical; (Potential).				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						ACAAGTTTCTACGTACTCTCC	0.522												
ERBB3	2065	broad.mit.edu	37	12	56487146	56487146	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56487146T>C	uc001sjh.2	+	12	1485	c.1292T>C	c.(1291-1293)TTG>TCG	p.L431S	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.L372S|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_5'UTR	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	431	Extracellular (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)			TTCTCATTGTTGATCATGAAG	0.428												
ZC3H10	84872	broad.mit.edu	37	12	56515288	56515288	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56515288T>C	uc001sjp.1	+	3	1131	c.942T>C	c.(940-942)ACT>ACC	p.T314T		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	314							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			AGACTCACACTACTCTCAGCA	0.592												
TIMELESS	8914	broad.mit.edu	37	12	56817439	56817439	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56817439C>T	uc001slf.2	-	17	2187	c.2019G>A	c.(2017-2019)GAG>GAA	p.E673E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	673	Glu-rich.				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				ovary(5)|breast(2)|pancreas(1)	8						cctcttcctcctcctcctcct	0.423												
SDR9C7	121214	broad.mit.edu	37	12	57317808	57317808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57317808G>A	uc010sqw.1	-	4	751	c.751C>T	c.(751-753)CAG>TAG	p.Q251*		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	251						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						TCTGCCACCTGCATTATGTTT	0.478												
MYO1A	4640	broad.mit.edu	37	12	57423603	57423603	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57423603A>G	uc001smw.3	-	25	2888	c.2645T>C	c.(2644-2646)CTG>CCG	p.L882P	MYO1A_uc010sqz.1_Missense_Mutation_p.L720P|MYO1A_uc009zpd.2_Missense_Mutation_p.L882P	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	882					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						CAGCTTCTGCAGCTTGGGGTT	0.592												
LRP1	4035	broad.mit.edu	37	12	57571369	57571369	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57571369C>T	uc001snd.2	+	26	4822	c.4356C>T	c.(4354-4356)GAC>GAT	p.D1452D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1452	Extracellular (Potential).|LDL-receptor class B 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTTGGATTGACGCCAGGTCAG	0.657												
LRP1	4035	broad.mit.edu	37	12	57573602	57573602	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57573602C>T	uc001snd.2	+	30	5470	c.5004C>T	c.(5002-5004)GTC>GTT	p.V1668V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1668	LDL-receptor class B 13.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACTGGGTCTCCCGAAACC	0.592												
LRP1	4035	broad.mit.edu	37	12	57592013	57592013	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57592013C>T	uc001snd.2	+	59	9823	c.9357C>T	c.(9355-9357)TGC>TGT	p.C3119C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3119	LDL-receptor class B 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTACTGGTGCGACAAAGGCC	0.652												
LRP1	4035	broad.mit.edu	37	12	57592261	57592261	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57592261A>G	uc001snd.2	+	60	9950	c.9484A>G	c.(9484-9486)ACA>GCA	p.T3162A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3162	LDL-receptor class B 28.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGTACTGGACAGACTGGGG	0.617												
KIF5A	3798	broad.mit.edu	37	12	57957311	57957311	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57957311T>C	uc001sor.1	+	2	425	c.217_splice	c.e2+2	p.D73_splice	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						TTGTCAAAGGTAATAGATTTC	0.438												
PPM1H	57460	broad.mit.edu	37	12	63195910	63195910	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:63195910A>G	uc001srk.3	-	3	591	c.442T>C	c.(442-444)TCG>CCG	p.S148P		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	148	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAAACAGCGACCAATAGTGG	0.622												
SRGAP1	57522	broad.mit.edu	37	12	64505760	64505760	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:64505760A>G	uc010ssp.1	+	17	2194	c.2138A>G	c.(2137-2139)GAC>GGC	p.D713G	SRGAP1_uc001srv.2_Missense_Mutation_p.D650G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	713					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCTGGAGATGACTATTGGTAA	0.378												
IRAK3	11213	broad.mit.edu	37	12	66641827	66641827	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66641827C>A	uc001sth.2	+	12	1769	c.1667C>A	c.(1666-1668)CCC>CAC	p.P556H	IRAK3_uc010ssy.1_Missense_Mutation_p.P495H	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	556					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|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 MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|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 macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|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			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		GACTTAAGGCCCTATAAGGTA	0.463												
HELB	92797	broad.mit.edu	37	12	66703603	66703603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66703603T>C	uc001sti.2	+	4	923	c.895T>C	c.(895-897)TCC>CCC	p.S299P	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	299					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)		AATAATGTATTCCAGACTGAA	0.393												
IFNG	3458	broad.mit.edu	37	12	68552014	68552014	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:68552014T>A	uc001stw.1	-	2	266	c.140A>T	c.(139-141)GAT>GTT	p.D47V		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	47					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AGTTCCATTATCCGCTACATC	0.308												
NUP107	57122	broad.mit.edu	37	12	69135681	69135681	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:69135681T>C	uc001suf.2	+	27	2706	c.2591T>C	c.(2590-2592)ATA>ACA	p.I864T	NUP107_uc001sug.2_Missense_Mutation_p.I623T|NUP107_uc010stj.1_Missense_Mutation_p.I835T	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	864					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCATACGATATTGCACAGT	0.428												
CPM	1368	broad.mit.edu	37	12	69250279	69250279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:69250279C>T	uc001sup.2	-	9	1331	c.1270G>A	c.(1270-1272)GCT>ACT	p.A424T	CPM_uc001sur.2_Missense_Mutation_p.A424T|CPM_uc001suq.2_Missense_Mutation_p.A424T	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	424					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTGCAGCTGAGTGGTCT	0.383												
RAB3IP	117177	broad.mit.edu	37	12	70195448	70195448	+	Silent	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:70195448A>T	uc001svp.2	+	8	1572	c.1125A>T	c.(1123-1125)GGA>GGT	p.G375G	RAB3IP_uc001svm.2_Silent_p.G359G|RAB3IP_uc001svn.2_Silent_p.G359G|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Silent_p.G375G|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Silent_p.G153G	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	375					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AACCAGTGGGATTACAACCTA	0.403												
PTPRB	5787	broad.mit.edu	37	12	71029640	71029640	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:71029640A>G	uc001swc.3	-	2	306	c.262T>C	c.(262-264)TCC>CCC	p.S88P	PTPRB_uc001swa.3_Missense_Mutation_p.S88P|PTPRB_uc001swd.3_Missense_Mutation_p.S87P|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.S88P	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGTGCCTGGGAACAGCGGTCC	0.542												
LGR5	8549	broad.mit.edu	37	12	71974204	71974204	+	Splice_Site	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:71974204G>A	uc001swl.2	+	16	1600	c.1552_splice	c.e16+1	p.D518_splice	LGR5_uc001swm.2_Splice_Site_p.D494_splice|LGR5_uc001swn.1_Splice_Site	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled							integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CAGGCTCAAGGTAGGACTTGC	0.358												
CSRP2	1466	broad.mit.edu	37	12	77253398	77253398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:77253398C>T	uc001syl.1	-	5	517	c.434G>A	c.(433-435)CGA>CAA	p.R145Q		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	145	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			ovary(1)	1						CTTTGCACATCGGAAACAGTT	0.408												
E2F7	144455	broad.mit.edu	37	12	77449854	77449854	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:77449854T>C	uc001sym.3	-	3	386	c.150A>G	c.(148-150)GAA>GAG	p.E50E	E2F7_uc001syn.2_Silent_p.E50E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	50					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AATCAATTGGTTCATTTTTTA	0.363												
TMTC2	160335	broad.mit.edu	37	12	83359353	83359353	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:83359353A>G	uc001szt.2	+	6	2131	c.1699A>G	c.(1699-1701)ACC>GCC	p.T567A	TMTC2_uc001szr.1_Missense_Mutation_p.T567A|TMTC2_uc001szs.1_Missense_Mutation_p.T567A|TMTC2_uc010suk.1_Missense_Mutation_p.T322A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	567	TPR 4.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						ATATTTAAATACCGGTATTAT	0.383												
LRRIQ1	84125	broad.mit.edu	37	12	85450662	85450662	+	Silent	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:85450662A>T	uc001tac.2	+	8	2202	c.2091A>T	c.(2089-2091)GTA>GTT	p.V697V	LRRIQ1_uc001tab.1_Silent_p.V697V|LRRIQ1_uc001taa.1_Silent_p.V672V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	697										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GCTCCATGGTATCTAAAGAAG	0.368												
RASSF9	9182	broad.mit.edu	37	12	86198792	86198792	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:86198792A>G	uc001taf.1	-	2	1335	c.996T>C	c.(994-996)ATT>ATC	p.I332I		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	332					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1						AATGAGAGTGAATTTTCAAAC	0.388												
ATP2B1	490	broad.mit.edu	37	12	89996854	89996854	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:89996854A>G	uc001tbh.2	-	17	3207	c.3026T>C	c.(3025-3027)TTC>TCC	p.F1009S	ATP2B1_uc001tbg.2_Missense_Mutation_p.F1009S|ATP2B1_uc001tbf.2_Missense_Mutation_p.F679S	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1009	Helical; (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						AATTGTGCAGAAGATGGCATT	0.358												
EPYC	1833	broad.mit.edu	37	12	91358019	91358019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:91358019G>A	uc001tbk.2	-	7	976	c.883C>T	c.(883-885)CGA>TGA	p.R295*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	295	LRR 6.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						CCATCCAATCGAATGTCCTCT	0.373												
PLEKHG7	440107	broad.mit.edu	37	12	93162797	93162797	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93162797A>G	uc001tcj.2	+	11	1203	c.973A>G	c.(973-975)AAC>GAC	p.N325D		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	325	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1						ACAACACGAAAACAGATATCG	0.313												
SOCS2	8835	broad.mit.edu	37	12	93968638	93968638	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93968638A>G	uc001tcw.1	+	3	870	c.280A>G	c.(280-282)AAT>GAT	p.N94D	SOCS2_uc001tcx.1_Missense_Mutation_p.N94D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.N94D|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	94	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1						TGGACCAACTAATCTTCGAAT	0.373												
SOCS2	8835	broad.mit.edu	37	12	93968662	93968662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:93968662G>A	uc001tcw.1	+	3	894	c.304G>A	c.(304-306)GGA>AGA	p.G102R	SOCS2_uc001tcx.1_Missense_Mutation_p.G102R|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.G102R|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	102	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1						ATACCAAGACGGAAAATTCAG	0.373												
PLXNC1	10154	broad.mit.edu	37	12	94580155	94580155	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:94580155A>T	uc001tdc.2	+	4	1594	c.1345A>T	c.(1345-1347)AGA>TGA	p.R449*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	449	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TTAGGTGAGGAGAATTCGTGT	0.423												
FGD6	55785	broad.mit.edu	37	12	95603554	95603554	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:95603554A>G	uc001tdp.3	-	2	1730	c.1506T>C	c.(1504-1506)CAT>CAC	p.H502H	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	502					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						CAGGCAAGCTATGTCTTTGAG	0.418												
ELK3	2004	broad.mit.edu	37	12	96641161	96641161	+	Silent	SNP	C	C	T	rs140155479		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:96641161C>T	uc001teo.1	+	3	930	c.651C>T	c.(649-651)TCC>TCT	p.S217S		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	217					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					TGGCCTCGTCCGTCTCGGCCA	0.602												
C12orf63	374467	broad.mit.edu	37	12	97098550	97098550	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97098550T>C	uc001tet.1	+	14	1857	c.1779T>C	c.(1777-1779)CTT>CTC	p.L593L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	593										skin(6)|ovary(1)	7						CAGGAAAACTTCTTACCAGTA	0.264												
C12orf63	374467	broad.mit.edu	37	12	97102450	97102450	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97102450T>C	uc001tet.1	+	15	1946	c.1868T>C	c.(1867-1869)CTC>CCC	p.L623P		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	623										skin(6)|ovary(1)	7						CAACCACATCTCTTAAATAAG	0.318												
ANKS1B	56899	broad.mit.edu	37	12	99174974	99174974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:99174974G>A	uc001tge.1	-	23	3704	c.3287C>T	c.(3286-3288)ACA>ATA	p.T1096I	ANKS1B_uc001tgf.1_Missense_Mutation_p.T612I|ANKS1B_uc001tgk.2_Missense_Mutation_p.T393I|ANKS1B_uc010svd.1_Missense_Mutation_p.T102I|ANKS1B_uc001tgd.1_Missense_Mutation_p.T262I|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.T126I|ANKS1B_uc001tgh.3_Missense_Mutation_p.T102I|ANKS1B_uc001tgi.2_Missense_Mutation_p.T346I|ANKS1B_uc009ztr.2_Missense_Mutation_p.T286I|ANKS1B_uc001tgj.2_Missense_Mutation_p.T262I|ANKS1B_uc009ztp.2_Missense_Mutation_p.T127I|ANKS1B_uc010svf.1_Missense_Mutation_p.T126I|ANKS1B_uc001tgg.3_Missense_Mutation_p.T194I|ANKS1B_uc010svg.1_Missense_Mutation_p.T231I|ANKS1B_uc009zts.1_Missense_Mutation_p.T322I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	1096	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATTTGCTCTGTAGACTTCTG	0.363												
UHRF1BP1L	23074	broad.mit.edu	37	12	100482808	100482808	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:100482808T>C	uc001tgq.2	-	8	1135	c.906A>G	c.(904-906)GTA>GTG	p.V302V	UHRF1BP1L_uc001tgr.2_Silent_p.V302V|UHRF1BP1L_uc001tgp.2_5'UTR	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	302										ovary(2)	2						TTGCATCATTTACATCAGGAG	0.378												
NR1H4	9971	broad.mit.edu	37	12	100904733	100904733	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:100904733A>T	uc001tht.1	+	2	315	c.287A>T	c.(286-288)TAT>TTT	p.Y96F	NR1H4_uc001thp.1_Missense_Mutation_p.Y86F|NR1H4_uc001thq.1_Missense_Mutation_p.Y86F|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.Y86F|NR1H4_uc010svk.1_Missense_Mutation_p.Y86F|NR1H4_uc001ths.1_Missense_Mutation_p.Y96F	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	96					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCTGGAATATATGAACTCAGG	0.522												
GAS2L3	283431	broad.mit.edu	37	12	101017693	101017693	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:101017693T>C	uc001thu.2	+	10	1336	c.1110T>C	c.(1108-1110)CGT>CGC	p.R370R	GAS2L3_uc009zty.2_Silent_p.R370R|GAS2L3_uc001thv.2_Silent_p.R266R	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	370					cell cycle arrest					skin(1)	1						TGTCAGTCCGTTCTAAATTGC	0.448												
ANO4	121601	broad.mit.edu	37	12	101381326	101381326	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:101381326A>G	uc010svm.1	+	8	1184	c.612A>G	c.(610-612)AAA>AAG	p.K204K	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.K169K|ANO4_uc001thx.2_Silent_p.K204K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	204	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GGATCGATAAACAAATAAGCA	0.507										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GNPTAB	79158	broad.mit.edu	37	12	102158448	102158448	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:102158448T>C	uc001tit.2	-	13	2426	c.2247A>G	c.(2245-2247)AAA>AAG	p.K749K		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	749					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						TAGCTTGATTTTTTATTTTAG	0.388												
STAB2	55576	broad.mit.edu	37	12	104030964	104030964	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104030964T>G	uc001tjw.2	+	7	845	c.659T>G	c.(658-660)CTG>CGG	p.L220R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	220	Extracellular (Potential).|EGF-like 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GAAAACAAACTGGAATGCAAA	0.428												
STAB2	55576	broad.mit.edu	37	12	104123945	104123945	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104123945A>G	uc001tjw.2	+	49	5320	c.5134A>G	c.(5134-5136)AGT>GGT	p.S1712G	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1712	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TGATATCATCAGTACTAATGG	0.343												
STAB2	55576	broad.mit.edu	37	12	104142848	104142848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:104142848G>A	uc001tjw.2	+	59	6538	c.6352G>A	c.(6352-6354)GGG>AGG	p.G2118R	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2118	Extracellular (Potential).|EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CAAAGGGGACGGGCACAGCTG	0.592												
ALDH1L2	160428	broad.mit.edu	37	12	105418218	105418218	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:105418218A>G	uc001tlc.2	-	23	2883	c.2756T>C	c.(2755-2757)GTG>GCG	p.V919A	ALDH1L2_uc009zuo.2_Missense_Mutation_p.V374A|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	919	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						TTCCAGTGTCACCGTCTTGGT	0.448												
TCP11L2	255394	broad.mit.edu	37	12	106704994	106704994	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:106704994A>G	uc001tln.2	+	2	315	c.141A>G	c.(139-141)AAA>AAG	p.K47K	TCP11L2_uc001tll.2_Silent_p.K47K|TCP11L2_uc001tlm.2_Silent_p.K47K|TCP11L2_uc001tlo.1_RNA	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	t-complex 11 (mouse) like 2	47	Ser-rich.									ovary(3)	3						CCTCCAGCAAATCCAGCTCTC	0.522												
POLR3B	55703	broad.mit.edu	37	12	106763412	106763412	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:106763412T>C	uc001tlp.2	+	6	577	c.355T>C	c.(355-357)TAT>CAT	p.Y119H	POLR3B_uc001tlq.2_Missense_Mutation_p.Y61H	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	119					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GGATATTGAATATACCCGAGG	0.488												
PWP1	11137	broad.mit.edu	37	12	108082460	108082460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108082460G>A	uc001tmo.1	+	3	287	c.200G>A	c.(199-201)CGC>CAC	p.R67H	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.R67H	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	67					transcription, DNA-dependent	nucleus					0						CAGAGTGCACGCACCCAGGCA	0.517												
WSCD2	9671	broad.mit.edu	37	12	108589987	108589987	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108589987G>T	uc001tms.2	+	2	1122	c.378G>T	c.(376-378)GAG>GAT	p.E126D	WSCD2_uc001tmt.2_Missense_Mutation_p.E126D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	126						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AGGAGGAAGAGCGAGGTAAGA	0.542												
SART3	9733	broad.mit.edu	37	12	108924060	108924060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108924060G>A	uc001tmz.1	-	15	2009	c.1774C>T	c.(1774-1776)CAG>TAG	p.Q592*	SART3_uc001tmy.1_Nonsense_Mutation_p.Q118*|SART3_uc009zux.1_Nonsense_Mutation_p.Q204*|SART3_uc010swx.1_Nonsense_Mutation_p.Q556*|SART3_uc010swy.1_Nonsense_Mutation_p.Q478*|SART3_uc010swz.1_Nonsense_Mutation_p.Q592*|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	592	Potential.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						TCTTCTTGCTGCACAAGGGCT	0.473									Porokeratosis			
SART3	9733	broad.mit.edu	37	12	108926095	108926095	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:108926095G>A	uc001tmz.1	-	13	1807	c.1572C>T	c.(1570-1572)ACC>ACT	p.T524T	SART3_uc001tmy.1_Silent_p.T50T|SART3_uc009zux.1_Silent_p.T136T|SART3_uc010swx.1_Silent_p.T488T|SART3_uc010swy.1_Silent_p.T410T|SART3_uc010swz.1_Silent_p.T524T|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	524					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GGCAGTGCTGGGTGTCACCAT	0.567									Porokeratosis			
SSH1	54434	broad.mit.edu	37	12	109194580	109194580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109194580G>A	uc001tnm.2	-	12	1211	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	SSH1_uc001tnl.2_Missense_Mutation_p.A63V|SSH1_uc010sxg.1_Missense_Mutation_p.A386V|SSH1_uc001tnn.3_Missense_Mutation_p.A375V	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	375	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						AAAATGATACGCTTCATTCCA	0.468												
ACACB	32	broad.mit.edu	37	12	109674991	109674991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109674991C>T	uc001tob.2	+	34	4587	c.4468C>T	c.(4468-4470)CGT>TGT	p.R1490C	ACACB_uc001toc.2_Missense_Mutation_p.R1490C|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R156C	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1490					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)	TCGCATTTACCGTCACTTGGA	0.547												
ACACB	32	broad.mit.edu	37	12	109685462	109685462	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109685462C>A	uc001tob.2	+	40	5742	c.5623C>A	c.(5623-5625)CTG>ATG	p.L1875M	ACACB_uc001toc.2_Missense_Mutation_p.L1875M|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.L541M	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1875	Carboxyltransferase.				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)	AATCAGCTCCCTGAACTCCGT	0.428												
KCTD10	83892	broad.mit.edu	37	12	109894111	109894111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109894111C>T	uc001toi.1	-	6	623	c.535G>A	c.(535-537)GAC>AAC	p.D179N	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Intron|KCTD10_uc001toj.1_Missense_Mutation_p.D188N|KCTD10_uc001tok.1_5'UTR	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	179					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						ATATTGTCGTCAGAATTGCTG	0.308												
C12orf34	84915	broad.mit.edu	37	12	110206189	110206189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110206189G>A	uc001tpd.1	+	3	1014	c.455G>A	c.(454-456)AGC>AAC	p.S152N	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.S152N	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	152	Pro-rich.									ovary(1)	1						CCAGTGCCCAGCACTCTGGGT	0.716												
C12orf34	84915	broad.mit.edu	37	12	110206716	110206716	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110206716C>T	uc001tpd.1	+	3	1541	c.982C>T	c.(982-984)CCC>TCC	p.P328S	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.P328S	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	328										ovary(1)	1						CAGCGGGTCACCCCTCAACTG	0.687												
TRPV4	59341	broad.mit.edu	37	12	110246174	110246174	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110246174G>A	uc001tpj.1	-	2	581	c.486C>T	c.(484-486)TCC>TCT	p.S162S	TRPV4_uc001tpg.1_Silent_p.S128S|TRPV4_uc001tph.1_Silent_p.S162S|TRPV4_uc001tpi.1_Silent_p.S162S|TRPV4_uc001tpk.1_Silent_p.S162S|TRPV4_uc001tpl.1_Silent_p.S162S	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	162	Cytoplasmic (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GGTCAGCAGTGGAGCCCCGGG	0.612												
ANAPC7	51434	broad.mit.edu	37	12	110834127	110834127	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:110834127T>C	uc001tqo.2	-	2	335	c.334A>G	c.(334-336)AAA>GAA	p.K112E	ANAPC7_uc001tqp.3_Missense_Mutation_p.K112E	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	112					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	protein phosphatase binding				0						TTTGAAGTTTTACTTAGCGCT	0.353												
CUX2	23316	broad.mit.edu	37	12	111760355	111760355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111760355C>T	uc001tsa.1	+	18	3050	c.2897C>T	c.(2896-2898)GCA>GTA	p.A966V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	966	CUT 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CTCGGCCAGGCAGTGGGCCAG	0.672												
ATXN2	6311	broad.mit.edu	37	12	111907920	111907920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111907920G>A	uc001tsj.2	-	20	3470	c.3308C>T	c.(3307-3309)GCG>GTG	p.A1103V	ATXN2_uc001tsh.2_Missense_Mutation_p.A838V|ATXN2_uc001tsi.2_Missense_Mutation_p.A814V|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A291V|ATXN2_uc001tsl.1_Missense_Mutation_p.A122V	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1103					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ACCATACATCGCATGCGTCTG	0.438												
ATXN2	6311	broad.mit.edu	37	12	111951319	111951319	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:111951319G>T	uc001tsj.2	-	11	2042	c.1880C>A	c.(1879-1881)GCC>GAC	p.A627D	ATXN2_uc001tsh.2_Missense_Mutation_p.A362D|ATXN2_uc001tsi.2_Missense_Mutation_p.A338D|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.A362D	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	627	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						ATGTCGCTGGGCCTTTGGGGA	0.443												
ACAD10	80724	broad.mit.edu	37	12	112193510	112193510	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112193510C>T	uc001tsq.2	+	20	3200	c.3000C>T	c.(2998-3000)GCC>GCT	p.A1000A	ACAD10_uc009zvx.2_Silent_p.A1031A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	1000							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AAATGGTCGCCCCGTCCATGG	0.522												
C12orf51	283450	broad.mit.edu	37	12	112688056	112688056	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112688056G>T	uc009zwc.2	-	18	2594	c.2576C>A	c.(2575-2577)CCT>CAT	p.P859H	C12orf51_uc010syk.1_Missense_Mutation_p.P681H|C12orf51_uc001tts.2_Missense_Mutation_p.P672H|C12orf51_uc001ttt.3_Missense_Mutation_p.P670H	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTTTCCAACAGGAGGCACGAG	0.527												
PTPN11	5781	broad.mit.edu	37	12	112924296	112924296	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112924296G>A	uc001ttx.2	+	11	1622	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	PTPN11_uc001ttw.1_Silent_p.T414T	NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	418	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CGGAGAGAACGGTCTGGCAAT	0.527			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome			
OAS3	4940	broad.mit.edu	37	12	113379472	113379472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:113379472C>T	uc001tug.2	+	2	362	c.275C>T	c.(274-276)GCC>GTC	p.A92V	OAS3_uc001tue.2_Missense_Mutation_p.A92V|OAS3_uc001tuf.2_Missense_Mutation_p.A92V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	92	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GACCAGAGGGCCCGCCGTGCA	0.602												
MED13L	23389	broad.mit.edu	37	12	116403940	116403940	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116403940A>G	uc001tvw.2	-	29	6389	c.6334T>C	c.(6334-6336)TGG>CGG	p.W2112R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACCAAAACCACTGGGGAAGA	0.473												
MED13L	23389	broad.mit.edu	37	12	116421280	116421280	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116421280G>C	uc001tvw.2	-	21	4652	c.4597C>G	c.(4597-4599)CCA>GCA	p.P1533A		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1533					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTGCTGCTGGTGGGGTCTGG	0.512											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MED13L	23389	broad.mit.edu	37	12	116428979	116428979	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116428979A>G	uc001tvw.2	-	17	3835	c.3780T>C	c.(3778-3780)AGT>AGC	p.S1260S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1260					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCGGTCATAACTCCAGCTTA	0.468												
MED13L	23389	broad.mit.edu	37	12	116429691	116429691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:116429691G>A	uc001tvw.2	-	17	3123	c.3068C>T	c.(3067-3069)ACG>ATG	p.T1023M		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1023					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTGTTCAACGTCACGGGTGT	0.562												
FBXO21	23014	broad.mit.edu	37	12	117603360	117603360	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:117603360T>C	uc001twk.2	-	9	1295	c.1256A>G	c.(1255-1257)TAC>TGC	p.Y419C	FBXO21_uc001twj.2_Missense_Mutation_p.Y419C|FBXO21_uc009zwq.2_Missense_Mutation_p.Y359C|FBXO21_uc001twl.1_Missense_Mutation_p.Y32C	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	419					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTGGTCCGGGTACATTGCCAG	0.493												
NOS1	4842	broad.mit.edu	37	12	117665266	117665266	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:117665266T>C	uc001twm.1	-	23	4272	c.3586A>G	c.(3586-3588)ACT>GCT	p.T1196A		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1196	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)	ATGGCCACAGTGAGGTGCACT	0.622												
VSIG10	54621	broad.mit.edu	37	12	118506221	118506221	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:118506221T>C	uc001tws.2	-	8	1862	c.1528A>G	c.(1528-1530)AAC>GAC	p.N510D		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	510	Cytoplasmic (Potential).					integral to membrane					0						TGTTCTATGTTCCCATTCACC	0.403												
HNF1A	6927	broad.mit.edu	37	12	121438866	121438866	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121438866A>G	uc001tzg.2	+	10	1792	c.1769_splice	c.e10-2	p.V590_splice	HNF1A_uc010szn.1_Splice_Site_p.V597_splice	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha						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)					TTGCCTCTGCAGTGTCCTCCA	0.622									Hepatic_Adenoma_Familial_Clustering_of			
KDM2B	84678	broad.mit.edu	37	12	121958857	121958857	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121958857G>A	uc001uat.2	-	9	1082	c.978C>T	c.(976-978)GGC>GGT	p.G326G	KDM2B_uc001uas.2_Silent_p.G295G|KDM2B_uc001uau.2_Silent_p.G209G|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	326	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GGATGTTTCCGCCGAACACCA	0.612												
DIABLO	56616	broad.mit.edu	37	12	122702813	122702813	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122702813C>A	uc010tab.1	-	4	1120	c.315G>T	c.(313-315)AAG>AAT	p.K105N	DIABLO_uc010taa.1_Missense_Mutation_p.K52N|DIABLO_uc010tac.1_Intron|DIABLO_uc010tad.1_Intron|VPS33A_uc001ucc.2_RNA	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	diablo isoform 1 precursor	105				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGAGACATACCTTAGTATATT	0.264												
VPS37B	79720	broad.mit.edu	37	12	123351983	123351983	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:123351983G>A	uc001udl.2	-	4	641	c.538C>T	c.(538-540)CTG>TTG	p.L180L		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	180	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	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)		AGTTCGGGCAGCCTGGGGGGC	0.692												
EIF2B1	1967	broad.mit.edu	37	12	124106441	124106441	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124106441C>T	uc001ufm.2	-	9	923	c.780G>A	c.(778-780)GCG>GCA	p.A260A	EIF2B1_uc001ufn.2_Silent_p.A258A	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GTCCAGTCTGCGCGACCTTGA	0.522												
ATP6V0A2	23545	broad.mit.edu	37	12	124228846	124228846	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124228846T>C	uc001ufr.2	+	11	1536	c.1288T>C	c.(1288-1290)TTA>CTA	p.L430L		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	430	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTGTTGGTGTTAAATGAAAA	0.393												
DNAH10	196385	broad.mit.edu	37	12	124274609	124274609	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124274609A>G	uc001uft.3	+	11	1598	c.1573A>G	c.(1573-1575)AGC>GGC	p.S525G	DNAH10_uc010tav.1_Missense_Mutation_p.S10G|DNAH10_uc010taw.1_Missense_Mutation_p.S10G	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	525	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)		TGACCCCTTCAGCATCAAGTC	0.507												
DNAH10	196385	broad.mit.edu	37	12	124283835	124283835	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124283835T>C	uc001uft.3	+	13	1877	c.1852T>C	c.(1852-1854)TAT>CAT	p.Y618H	DNAH10_uc010tav.1_Missense_Mutation_p.Y160H|DNAH10_uc010taw.1_Missense_Mutation_p.Y103H	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	618	Stem (By similarity).|Potential.				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)		AATGAAGGAGTATGAAGACAG	0.448												
CCDC92	80212	broad.mit.edu	37	12	124422058	124422058	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:124422058T>C	uc001ufw.1	-	5	690	c.543A>G	c.(541-543)TCA>TCG	p.S181S	CCDC92_uc001ufv.1_Silent_p.S164S|CCDC92_uc001ufx.1_Silent_p.S181S|CCDC92_uc001ufy.1_Silent_p.S164S	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	181											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGGGGCTCCCTGACGGGCTGG	0.657												
DHX37	57647	broad.mit.edu	37	12	125461903	125461903	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:125461903T>C	uc001ugy.2	-	5	971	c.872A>G	c.(871-873)GAA>GGA	p.E291G		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	291	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GAAGCCTGCTTCATAGAGAAA	0.522												
DHX37	57647	broad.mit.edu	37	12	125473501	125473501	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:125473501C>G	uc001ugy.2	-	1	167	c.68G>C	c.(67-69)GGC>GCC	p.G23A		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	23							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCGGGGGGGCCCTTCGAGGG	0.726												
TMEM132B	114795	broad.mit.edu	37	12	126138514	126138514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:126138514T>C	uc001uhe.1	+	9	2503	c.2495T>C	c.(2494-2496)TTC>TCC	p.F832S	TMEM132B_uc001uhf.1_Missense_Mutation_p.F344S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	832	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGAATGGTTCCACCGTGGC	0.488												
TMEM132D	121256	broad.mit.edu	37	12	129566529	129566529	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:129566529G>A	uc009zyl.1	-	7	2026	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	TMEM132D_uc001uia.2_Silent_p.R104R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	566	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTGCAGCCGCGGCCCCTCC	0.637												
ULK1	8408	broad.mit.edu	37	12	132400526	132400526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132400526G>A	uc001uje.2	+	19	1968	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	567					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CACGTCGTCCGCCCCAAGCTG	0.706												
PUS1	80324	broad.mit.edu	37	12	132426240	132426240	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132426240C>T	uc001ujf.2	+	5	1427	c.948C>T	c.(946-948)CGC>CGT	p.R316R	PUS1_uc001ujg.2_Silent_p.R288R|PUS1_uc001ujh.2_Silent_p.R288R|PUS1_uc001uji.2_Silent_p.R263R	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	316						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		TGCTGGAGCGCAGCTGGGGCA	0.622												
DDX51	317781	broad.mit.edu	37	12	132626443	132626443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:132626443G>A	uc001ujy.3	-	6	986	c.947C>T	c.(946-948)ACG>ATG	p.T316M	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	316	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CTTCTGTCCCGTAACCAGGGA	0.562												
GOLGA3	2802	broad.mit.edu	37	12	133350799	133350799	+	Silent	SNP	C	C	T	rs148152813	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133350799C>T	uc001ukz.1	-	23	4810	c.4251G>A	c.(4249-4251)CCG>CCA	p.P1417P		NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1417	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)		TCACGGCGGGCGGTGGTCTCA	0.607												
GOLGA3	2802	broad.mit.edu	37	12	133365855	133365855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133365855G>A	uc001ukz.1	-	13	3128	c.2569C>T	c.(2569-2571)CGC>TGC	p.R857C	GOLGA3_uc001ula.1_Missense_Mutation_p.R857C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R857C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	857	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)		GTGGCGTCGCGCCGGTAGGCC	0.647												
GOLGA3	2802	broad.mit.edu	37	12	133374952	133374952	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133374952T>C	uc001ukz.1	-	9	2471	c.1912A>G	c.(1912-1914)ATC>GTC	p.I638V	GOLGA3_uc001ula.1_Missense_Mutation_p.I638V|GOLGA3_uc001ulb.2_Missense_Mutation_p.I638V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	638	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)		TGTGCCGCGATGCGCCCCTTC	0.587												
ZNF268	10795	broad.mit.edu	37	12	133768141	133768141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133768141G>A	uc010tcf.1	+	4	631	c.301G>A	c.(301-303)GCA>ACA	p.A101T	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Intron|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.A101T	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	101	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCTAGACCCAGCACAGAAGTG	0.488												
GJB6	10804	broad.mit.edu	37	13	20797216	20797216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:20797216G>A	uc001umz.3	-	3	957	c.404C>T	c.(403-405)ACG>ATG	p.T135M	GJB6_uc001unc.3_Missense_Mutation_p.T135M|GJB6_uc001una.3_Missense_Mutation_p.T135M|GJB6_uc001und.3_Missense_Mutation_p.T135M|GJB6_uc001unb.3_Missense_Mutation_p.T135M	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	135	Helical; (Potential).				cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GCTGGTGTACGTCCACCACAG	0.458												
LATS2	26524	broad.mit.edu	37	13	21557671	21557671	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:21557671T>C	uc009zzs.2	-	5	2539	c.2174A>G	c.(2173-2175)AAT>AGT	p.N725S	LATS2_uc001unr.3_Missense_Mutation_p.N725S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	725	Protein kinase.|ATP (By similarity).				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CACCCACTCATTGTCTGCCTC	0.542												
SGCG	6445	broad.mit.edu	37	13	23853591	23853591	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23853591T>C	uc001uom.2	+	5	634	c.479T>C	c.(478-480)GTT>GCT	p.V160A	SGCG_uc009zzv.2_Missense_Mutation_p.V160A|SGCG_uc009zzw.2_Missense_Mutation_p.V160A	NM_000231	NP_000222	Q13326	SGCG_HUMAN	gamma sarcoglycan	160	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAAGTTGTGGTTGGTACAGAT	0.398												
SACS	26278	broad.mit.edu	37	13	23906235	23906235	+	Missense_Mutation	SNP	G	G	A	rs142926244		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23906235G>A	uc001uon.2	-	10	12369	c.11780C>T	c.(11779-11781)GCG>GTG	p.A3927V	SACS_uc001uoo.2_Missense_Mutation_p.A3780V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3927					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)		ATAATGTGGCGCATCGTCAAA	0.443												
SACS	26278	broad.mit.edu	37	13	23914771	23914771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23914771C>T	uc001uon.2	-	10	3833	c.3244G>A	c.(3244-3246)GAT>AAT	p.D1082N	SACS_uc001uoo.2_Missense_Mutation_p.D935N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1082					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)		TGAAGAATATCTGGTGAGGTA	0.383												
SACS	26278	broad.mit.edu	37	13	23914780	23914780	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:23914780T>C	uc001uon.2	-	10	3824	c.3235A>G	c.(3235-3237)ACC>GCC	p.T1079A	SACS_uc001uoo.2_Missense_Mutation_p.T932A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1079					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)		TCTGGTGAGGTAAAAACTGAG	0.383												
SPATA13	221178	broad.mit.edu	37	13	24823711	24823711	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:24823711C>T	uc001upg.1	+	2	282	c.-125C>T	c.(-127--123)GACGG>GATGG		SPATA13_uc001upd.1_Missense_Mutation_p.R584W|C1QTNF9_uc001upe.2_Intron|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTCTGGGAGACGGCCAAGGCC	0.602												
PARP4	143	broad.mit.edu	37	13	25075869	25075869	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25075869T>C	uc001upl.2	-	3	342	c.236A>G	c.(235-237)AAA>AGA	p.K79R	PARP4_uc010tdc.1_Missense_Mutation_p.K79R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	79	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTGATAGATTTCCATATAAA	0.393												
ATP12A	479	broad.mit.edu	37	13	25264840	25264840	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25264840T>C	uc001upp.2	+	7	967	c.780T>C	c.(778-780)TAT>TAC	p.Y260Y	ATP12A_uc010aaa.2_Silent_p.Y260Y	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	260	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTGCTTCTATTCCACAACGT	0.547												
RNF17	56163	broad.mit.edu	37	13	25399866	25399866	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25399866T>C	uc001upr.2	+	16	2242	c.2201T>C	c.(2200-2202)GTA>GCA	p.V734A	RNF17_uc010tdd.1_Missense_Mutation_p.V593A|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.V734A|RNF17_uc001ups.2_Missense_Mutation_p.V673A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	734	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAAGCCTGTGTAGCTAAATTT	0.358												
CENPJ	55835	broad.mit.edu	37	13	25480479	25480479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25480479C>T	uc001upt.3	-	7	1950	c.1697G>A	c.(1696-1698)CGA>CAA	p.R566Q	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	566					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCCTTTTCTCGTTCCCAAGT	0.383												
PABPC3	5042	broad.mit.edu	37	13	25670497	25670497	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25670497A>G	uc001upy.2	+	1	222	c.161A>G	c.(160-162)TAC>TGC	p.Y54C		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	54	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCTCCAACTACGCGTATGTG	0.547												
FAM123A	219287	broad.mit.edu	37	13	25745036	25745036	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:25745036G>A	uc001uqb.2	-	1	822	c.722C>T	c.(721-723)ACG>ATG	p.T241M	FAM123A_uc001uqa.2_Missense_Mutation_p.T241M|FAM123A_uc001uqc.2_Missense_Mutation_p.T241M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	241										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGCTCTGGGCGTCTCCTCCTT	0.627												
GPR12	2835	broad.mit.edu	37	13	27333371	27333371	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:27333371G>A	uc010aal.2	-	2	816	c.594C>T	c.(592-594)AAC>AAT	p.N198N	GPR12_uc010tdl.1_Silent_p.N39N	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	198	Extracellular (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGATGGCCGCGTTGTTCTTGG	0.587												
LNX2	222484	broad.mit.edu	37	13	28124542	28124542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28124542T>C	uc001url.3	-	9	2174	c.1865A>G	c.(1864-1866)AAC>AGC	p.N622S		NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	622	PDZ 4.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATTGGTGTGGTTCTCTTCATA	0.368												
GSX1	219409	broad.mit.edu	37	13	28367838	28367838	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28367838A>G	uc001urr.1	+	2	596	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	183	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ATCGCGACCTACCTGAATCTG	0.527												
PAN3	255967	broad.mit.edu	37	13	28862160	28862160	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:28862160T>C	uc001urz.2	+	17	1994	c.1986T>C	c.(1984-1986)CGT>CGC	p.R662R	PAN3_uc001ury.2_Silent_p.R496R|PAN3_uc001urx.2_Silent_p.R608R	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	808	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGGAGACCGTTATCTGTTGA	0.438												
USPL1	10208	broad.mit.edu	37	13	31205398	31205398	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:31205398A>G	uc001utc.2	+	4	1087	c.655A>G	c.(655-657)ACA>GCA	p.T219A	USPL1_uc001utb.2_Missense_Mutation_p.T38A|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	219					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGCAAATGTACATCATTTCC	0.438												
HSPH1	10808	broad.mit.edu	37	13	31717998	31717998	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:31717998T>C	uc001utj.2	-	12	2045	c.1647A>G	c.(1645-1647)CAA>CAG	p.Q549Q	HSPH1_uc001utk.2_Intron|HSPH1_uc010aaw.2_Silent_p.Q508Q|HSPH1_uc001utl.2_Silent_p.Q551Q|HSPH1_uc010tds.1_Silent_p.Q473Q	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	549					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTGAGGTTTGTTGAGCATCAG	0.443												
BRCA2	675	broad.mit.edu	37	13	32913347	32913347	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32913347A>G	uc001uub.1	+	11	5082	c.4855A>G	c.(4855-4857)AAT>GAT	p.N1619D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1619					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)		CTTAAGTGATAATTTATGTAG	0.328			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)		
BRCA2	675	broad.mit.edu	37	13	32929041	32929041	+	Missense_Mutation	SNP	G	G	A	rs80358930		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32929041G>A	uc001uub.1	+	14	7278	c.7051G>A	c.(7051-7053)GCA>ACA	p.A2351T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2351	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)		AAATTTTACCGCACCTGGTCA	0.333			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)		
NBEA	26960	broad.mit.edu	37	13	35733985	35733985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:35733985C>T	uc001uvb.2	+	23	3883	c.3677C>T	c.(3676-3678)GCG>GTG	p.A1226V	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1226						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAGACTTAGCGTCATCAACT	0.373												
NBEA	26960	broad.mit.edu	37	13	35770145	35770145	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:35770145T>C	uc001uvb.2	+	31	5278	c.5072T>C	c.(5071-5073)TTA>TCA	p.L1691S	NBEA_uc010abi.2_Missense_Mutation_p.L347S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1691						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGGCAGAATTAGAAACAAGT	0.433												
SMAD9	4093	broad.mit.edu	37	13	37453642	37453642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37453642G>A	uc001uvw.2	-	2	528	c.185C>T	c.(184-186)CCG>CTG	p.P62L	SMAD9_uc001uvx.2_Missense_Mutation_p.P62L|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	62	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGGCTGCCCCGGGCAGCTGAG	0.602												
EXOSC8	11340	broad.mit.edu	37	13	37577117	37577117	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37577117T>A	uc001uwa.2	+	4	430	c.165T>A	c.(163-165)AAT>AAA	p.N55K	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.N55K|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	55					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			pancreas(1)	1		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGTTGGGAAATACTACAGTAA	0.313												
FAM48A	55578	broad.mit.edu	37	13	37583829	37583829	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:37583829G>A	uc001uwg.2	-	26	2568	c.2320C>T	c.(2320-2322)CCA>TCA	p.P774S	FAM48A_uc010abt.2_3'UTR|FAM48A_uc001uwh.2_3'UTR|FAM48A_uc001uwi.2_3'UTR|FAM48A_uc001uwj.2_3'UTR|FAM48A_uc001uwk.2_3'UTR|FAM48A_uc001uwd.2_3'UTR|FAM48A_uc001uwe.2_Missense_Mutation_p.P258S|FAM48A_uc001uwf.2_Missense_Mutation_p.P340S	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	774					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGAGTGGTTGGCGTGCCTCTC	0.393												
FREM2	341640	broad.mit.edu	37	13	39265089	39265089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39265089G>A	uc001uwv.2	+	1	3917	c.3608G>A	c.(3607-3609)GGC>GAC	p.G1203D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1203	CSPG 8.|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)		GTGATGGAAGGCATGAGTCTG	0.418												
FREM2	341640	broad.mit.edu	37	13	39265723	39265723	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39265723C>T	uc001uwv.2	+	1	4551	c.4242C>T	c.(4240-4242)ATC>ATT	p.I1414I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1414	Extracellular (Potential).|CSPG 10.				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)		ATGTGTCCATCGGGAGCATTG	0.428												
FREM2	341640	broad.mit.edu	37	13	39425215	39425215	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:39425215A>G	uc001uwv.2	+	10	7021	c.6712A>G	c.(6712-6714)ACT>GCT	p.T2238A	FREM2_uc001uww.2_Missense_Mutation_p.T324A	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2238	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)		ACAAAATGAAACTCTCATAAG	0.408												
KBTBD6	89890	broad.mit.edu	37	13	41705362	41705362	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:41705362T>C	uc001uxu.1	-	1	1575	c.1286A>G	c.(1285-1287)GAT>GGT	p.D429G	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.D363G|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	429	Kelch 1.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATATGCCACATCCATGCCCTC	0.473												
KBTBD7	84078	broad.mit.edu	37	13	41768040	41768040	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:41768040G>A	uc001uxw.1	-	1	663	c.354C>T	c.(352-354)GAC>GAT	p.D118D	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	118	BTB.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGACTCGGCGTCCACATCGT	0.592												
KIAA0564	23078	broad.mit.edu	37	13	42149902	42149902	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:42149902T>C	uc001uyj.2	-	43	5414	c.5344A>G	c.(5344-5346)AAT>GAT	p.N1782D		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1782	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTTTGCTTATTGTCCTTGGGG	0.353												
ENOX1	55068	broad.mit.edu	37	13	43872523	43872523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:43872523G>A	uc001uza.3	-	12	1705	c.1405C>T	c.(1405-1407)CAA>TAA	p.Q469*	ENOX1_uc001uzb.3_Nonsense_Mutation_p.Q469*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.Q469*|ENOX1_uc001uyz.3_Nonsense_Mutation_p.Q78*	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	469	Potential.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AACTGCAGTTGCTGGTCCTTG	0.443												
C13orf31	144811	broad.mit.edu	37	13	44463069	44463069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:44463069C>T	uc010acg.2	+	5	1569	c.1084C>T	c.(1084-1086)CAA>TAA	p.Q362*	C13orf31_uc001uzf.3_Nonsense_Mutation_p.Q362*	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN	hypothetical protein LOC144811	362											0		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)		TGCATGTGTACAACTATTTGA	0.388												
SPERT	220082	broad.mit.edu	37	13	46276602	46276602	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:46276602T>C	uc001van.1	+	1	155	c.75_splice	c.e1+2	p.L25_splice	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated							cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTCACATTGGTATGGCTTTTT	0.378												
ZC3H13	23091	broad.mit.edu	37	13	46554101	46554101	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:46554101T>C	uc010tfw.1	-	10	1765	c.1759A>G	c.(1759-1761)AGT>GGT	p.S587G	ZC3H13_uc001vas.1_Missense_Mutation_p.S587G|ZC3H13_uc001vat.1_Missense_Mutation_p.S587G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	587	Arg/Ser-rich.						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)		CTATTACTACTGTGACTATCA	0.383												
SUCLA2	8803	broad.mit.edu	37	13	48570976	48570976	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:48570976A>G	uc001vbs.2	-	2	328	c.271_splice	c.e2+1	p.G91_splice	SUCLA2_uc010tgb.1_Splice_Site_p.G31_splice|SUCLA2_uc010tgc.1_Splice_Site|SUCLA2_uc010tgd.1_Splice_Site_p.G31_splice|SUCLA2_uc001vbt.1_Splice_Site|SUCLA2_uc001vbu.1_Splice_Site_p.G91_splice	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit						succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)	1		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTAATTTAGTACCTAATTTTT	0.348												
RB1	5925	broad.mit.edu	37	13	48947548	48947548	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:48947548A>T	uc001vcb.2	+	12	1301	c.1135A>T	c.(1135-1137)ATG>TTG	p.M379L	RB1_uc010act.1_Missense_Mutation_p.M80L	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	379	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGACTGTTATGAACACTAT	0.303		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
INTS6	26512	broad.mit.edu	37	13	52004496	52004496	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:52004496C>T	uc001vfk.2	-	4	977	c.363G>A	c.(361-363)GAG>GAA	p.E121E	INTS6_uc001vfj.2_Silent_p.E108E|INTS6_uc001vfl.2_5'UTR	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	121	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTATTGCTGGCTCCAAGAAAA	0.363												
NEK3	4752	broad.mit.edu	37	13	52726815	52726815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:52726815A>G	uc001vgi.2	-	5	557	c.322T>C	c.(322-324)TTT>CTT	p.F108L	NEK3_uc001vgg.2_Missense_Mutation_p.F102L|NEK3_uc001vgh.2_Missense_Mutation_p.F129L|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.F108L	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	108	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ATTTGGGTAAACCAATTAAGT	0.368												
SUGT1	10910	broad.mit.edu	37	13	53250418	53250418	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:53250418G>A	uc001vhc.2	+	12	1002	c.777G>A	c.(775-777)GGG>GGA	p.G259G	SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Silent_p.G227G|SUGT1_uc010thb.1_Silent_p.G171G|SUGT1_uc001vhd.2_Silent_p.G116G	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN	suppressor of G2 allele of SKP1 isoform a	259					mitosis	kinetochore|ubiquitin ligase complex	binding				0		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGCTAGAGGGGCAAGGAGATG	0.383												
PCDH8	5100	broad.mit.edu	37	13	53421057	53421057	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:53421057C>T	uc001vhi.2	-	1	1718	c.1515G>A	c.(1513-1515)TCG>TCA	p.S505S	PCDH8_uc001vhj.2_Silent_p.S505S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	505	Extracellular (Potential).|Cadherin 5.				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)		TCTCGCGCACCGACACCTCAT	0.736												
TDRD3	81550	broad.mit.edu	37	13	61041374	61041374	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:61041374T>C	uc001via.2	+	5	865	c.77T>C	c.(76-78)CTG>CCG	p.L26P	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.L26P|TDRD3_uc010aeg.2_Missense_Mutation_p.L119P|TDRD3_uc001vib.3_Missense_Mutation_p.L26P	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	26					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGCTTTAGCCTGAACACACCA	0.274												
PCDH9	5101	broad.mit.edu	37	13	67800539	67800539	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:67800539T>C	uc001vik.2	-	2	2726	c.2034A>G	c.(2032-2034)CCA>CCG	p.P678P	PCDH9_uc001vil.2_Silent_p.P678P|PCDH9_uc010thl.1_Silent_p.P678P|PCDH9_uc001vin.3_Silent_p.P678P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	678	Extracellular (Potential).				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)		TATTAGACGGTGGAGAAATGA	0.478												
UCHL3	7347	broad.mit.edu	37	13	76179869	76179869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:76179869C>T	uc001vjq.2	+	9	644	c.614C>T	c.(613-615)GCC>GTC	p.A205V	UCHL3_uc001vjr.2_Missense_Mutation_p.A169V	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	205					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		CCATAGGATGCCATAGAAGTT	0.318												
MYCBP2	23077	broad.mit.edu	37	13	77652957	77652957	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:77652957A>G	uc001vkf.2	-	67	11461	c.11370_splice	c.e67+1	p.Q3790_splice	MYCBP2_uc010aev.2_Splice_Site_p.Q3194_splice|MYCBP2_uc001vke.2_Splice_Site_p.Q410_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2						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)		AATTTCAATTACCTGCTTTAT	0.343												
MYCBP2	23077	broad.mit.edu	37	13	77780843	77780843	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:77780843T>C	uc001vkf.2	-	25	3511	c.3420A>G	c.(3418-3420)TTA>TTG	p.L1140L	MYCBP2_uc010aev.2_Silent_p.L544L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1140					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)		ATCCTGTTGGTAAGGCAAGTT	0.483												
SCEL	8796	broad.mit.edu	37	13	78130819	78130819	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:78130819T>C	uc001vki.2	+	3	302	c.132T>C	c.(130-132)AGT>AGC	p.S44S	SCEL_uc001vkj.2_Silent_p.S44S|SCEL_uc010thx.1_Silent_p.S44S	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	44					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGGATAACAGTTGGATAAAGA	0.463												
SLITRK5	26050	broad.mit.edu	37	13	88327790	88327790	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:88327790C>T	uc001vln.2	+	2	366	c.147C>T	c.(145-147)GAC>GAT	p.D49D	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	49	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAATCTGTGACAATGCATGTC	0.463												
ABCC4	10257	broad.mit.edu	37	13	95886989	95886989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:95886989C>T	uc001vmd.3	-	4	525	c.406G>A	c.(406-408)GCC>ACC	p.A136T	ABCC4_uc010afk.2_Missense_Mutation_p.A136T|ABCC4_uc001vme.2_Missense_Mutation_p.A136T|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Missense_Mutation_p.A93T|ABCC4_uc010afl.1_Missense_Mutation_p.A93T|ABCC4_uc010afm.1_Missense_Mutation_p.A149T	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	136	Helical; (Potential).|ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTGGCATAGGCGTACGCTGTG	0.398												
MBNL2	10150	broad.mit.edu	37	13	97995277	97995277	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:97995277T>C	uc010aft.2	+	4	1163	c.347T>C	c.(346-348)TTC>TCC	p.F116S	MBNL2_uc001vmz.2_Missense_Mutation_p.F116S|MBNL2_uc001vna.2_Missense_Mutation_p.F116S|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	116					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)			CAGCCCACTTTCCCTGTAGGT	0.418												
IPO5	3843	broad.mit.edu	37	13	98658469	98658469	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:98658469T>A	uc001vnf.1	+	14	1648	c.1583T>A	c.(1582-1584)GTC>GAC	p.V528D	IPO5_uc001vne.2_Missense_Mutation_p.V546D|IPO5_uc010tik.1_Missense_Mutation_p.V403D|IPO5_uc010til.1_Missense_Mutation_p.V468D|IPO5_uc001vng.1_Missense_Mutation_p.V149D	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	528					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GAAAAATTTGTCCCCTACTAT	0.393												
GPR183	1880	broad.mit.edu	37	13	99947711	99947711	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:99947711T>C	uc001vog.2	-	2	863	c.689A>G	c.(688-690)AAC>AGC	p.N230S	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron	NM_004951	NP_004942	P32249	GP183_HUMAN	EBV-induced G protein-coupled receptor 2	230	Cytoplasmic (Potential).				humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0						AGTGAGTGGGTTTTGTTTGGC	0.383												
TM9SF2	9375	broad.mit.edu	37	13	100196200	100196200	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:100196200C>T	uc001voj.1	+	10	1234	c.1101C>T	c.(1099-1101)GTC>GTT	p.V367V	TM9SF2_uc010afz.1_Silent_p.V202V	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	367	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGCTATCAGTCTTTCTAGGAT	0.368												
PCCA	5095	broad.mit.edu	37	13	100909900	100909900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:100909900G>A	uc001voo.2	+	9	727	c.689G>A	c.(688-690)CGC>CAC	p.R230H	PCCA_uc010aga.2_Missense_Mutation_p.R204H|PCCA_uc010tiz.1_Missense_Mutation_p.R230H	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	230	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AAAGGCATGCGCATTGCTTGG	0.443												
NALCN	259232	broad.mit.edu	37	13	101797171	101797171	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:101797171T>C	uc001vox.1	-	16	2105	c.1916A>G	c.(1915-1917)AAC>AGC	p.N639S	NALCN_uc001voy.2_Missense_Mutation_p.N354S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	639	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAGGTCTGTTTGGAAATTT	0.333												
FGF14	2259	broad.mit.edu	37	13	102375275	102375275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:102375275G>A	uc001vpe.2	-	5	650	c.650C>T	c.(649-651)ACG>ATG	p.T217M	FGF14_uc001vpf.2_Missense_Mutation_p.T222M|FGF14_uc001vpd.1_5'Flank	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	217					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)					CTTCGGGACCGTTTCCCCAAC	0.468												
ERCC5	2073	broad.mit.edu	37	13	103474505	103474505	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:103474505A>C	uc001vpu.1	+	5	1019	c.897A>C	c.(895-897)GAA>GAC	p.E299D	BIVM_uc001vps.2_Missense_Mutation_p.E299D|BIVM_uc010agc.2_Missense_Mutation_p.E70D|BIVM_uc001vpv.2_Missense_Mutation_p.E70D	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGCAGGAGAAACTGGTAGGT	0.289			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
RAB20	55647	broad.mit.edu	37	13	111176256	111176256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:111176256G>A	uc001vqy.2	-	2	666	c.461C>T	c.(460-462)GCG>GTG	p.A154V		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	154					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			AAGGGCCACCGCATCCTCCAG	0.592												
F7	2155	broad.mit.edu	37	13	113770010	113770010	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113770010G>A	uc001vsv.2	+	6	518	c.467G>A	c.(466-468)GGC>GAC	p.G156D	F7_uc010agp.1_Missense_Mutation_p.G149D|F7_uc001vsw.2_Missense_Mutation_p.G134D|F7_uc010tjt.1_Missense_Mutation_p.G87D	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	156	EGF-like 2.		G -> S (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACGAGAACGGCGGCTGTGAG	0.652												
F7	2155	broad.mit.edu	37	13	113772918	113772918	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113772918C>A	uc001vsv.2	+	9	1048	c.997C>A	c.(997-999)CTG>ATG	p.L333M	F7_uc001vsw.2_Missense_Mutation_p.L311M|F7_uc010tjt.1_Missense_Mutation_p.L264M	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	333	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGAGAGGACGCTGGCCTTCGT	0.672												
LAMP1	3916	broad.mit.edu	37	13	113965127	113965127	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:113965127G>A	uc001vtm.1	+	4	788	c.507G>A	c.(505-507)ACG>ACA	p.T169T	LAMP1_uc010tka.1_Intron	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	169	Lumenal (Potential).|First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGACCGTAACGCTCCATGATG	0.517												
OR4K1	79544	broad.mit.edu	37	14	20403942	20403942	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20403942G>A	uc001vwj.1	+	1	117	c.117G>A	c.(115-117)GTG>GTA	p.V39V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACATCAGTGCTAGGCAATG	0.363												
CCNB1IP1	57820	broad.mit.edu	37	14	20784646	20784646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20784646G>A	uc001vwv.2	-	5	686	c.37C>T	c.(37-39)CGA>TGA	p.R13*	CCNB1IP1_uc001vww.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwx.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwy.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc001vwz.2_Nonsense_Mutation_p.R13*|CCNB1IP1_uc010ahh.1_RNA	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	13	RING-type; atypical.					chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CGACACTTTCGATAATTACAA	0.463			T	HMGA2	leiomyoma							
TEP1	7011	broad.mit.edu	37	14	20840980	20840980	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20840980C>T	uc001vxe.2	-	49	7028	c.6988G>A	c.(6988-6990)GCA>ACA	p.A2330T	TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Missense_Mutation_p.A1673T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A2222T|TEP1_uc010tlh.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2330	WD 17.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGTGTGTGCCGAGGACCAG	0.512												
OSGEP	55644	broad.mit.edu	37	14	20917404	20917404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:20917404G>A	uc001vxf.2	-	4	789	c.433C>T	c.(433-435)CGT>TGT	p.R145C		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	145					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATACGGTAACGATGTTCCGAG	0.463												
FLJ10357	55701	broad.mit.edu	37	14	21549794	21549794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21549794C>T	uc001vzp.2	+	14	2796	c.2767C>T	c.(2767-2769)CGG>TGG	p.R923W	FLJ10357_uc001vzo.1_Missense_Mutation_p.R2W|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R209W	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	923					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCAGGAGATGCGGGCCCTGGC	0.721												
TOX4	9878	broad.mit.edu	37	14	21961331	21961331	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21961331C>A	uc001waz.2	+	7	1659	c.1556C>A	c.(1555-1557)CCT>CAT	p.P519H	TOX4_uc001way.2_Missense_Mutation_p.P389H|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P496H|TOX4_uc010tlv.1_Missense_Mutation_p.P389H	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	519	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CCTGAGCGGCCTATGAACAAC	0.502												
OR4E2	26686	broad.mit.edu	37	14	22134094	22134094	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:22134094C>A	uc010tmd.1	+	1	798	c.798C>A	c.(796-798)TCC>TCA	p.S266S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CCAGCTTCTCCATTGACAAGG	0.507												
PABPN1	8106	broad.mit.edu	37	14	23777114	23777114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:23777114G>A	uc001wjh.3	+	3	326	c.138G>A	c.(136-138)ATG>ATA	p.M46I	BCL2L2_uc001wjg.3_Missense_Mutation_p.M46I|BCL2L2_uc001wji.3_Missense_Mutation_p.M46I	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCAAGCCATGCGGGCAGCTG	0.617												
EFS	10278	broad.mit.edu	37	14	23829242	23829242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:23829242C>T	uc001wjo.2	-	4	1053	c.445G>A	c.(445-447)GAT>AAT	p.D149N	EFS_uc001wjp.2_Missense_Mutation_p.D56N|EFS_uc010tnm.1_Missense_Mutation_p.D56N	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	149	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGGCACATCGTAGACCTGC	0.642												
LRRC16B	90668	broad.mit.edu	37	14	24531766	24531766	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24531766A>G	uc001wlj.2	+	28	2715	c.2558A>G	c.(2557-2559)CAC>CGC	p.H853R	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	853										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TACCATTCCCACAAGAGCCTG	0.577												
PCK2	5106	broad.mit.edu	37	14	24569353	24569353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24569353G>A	uc001wlt.2	+	7	1297	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.E401K|PCK2_uc001wls.2_Missense_Mutation_p.E389K|PCK2_uc010tnw.1_Missense_Mutation_p.E255K|PCK2_uc010ald.2_3'UTR|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.E255K|PCK2_uc001wlu.3_Missense_Mutation_p.E255K	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	389					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		CGTGTACTGGGAGGGCATTGA	0.557												
DCAF11	80344	broad.mit.edu	37	14	24587991	24587991	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24587991A>G	uc001wlv.2	+	8	1037	c.757A>G	c.(757-759)ACA>GCA	p.T253A	DCAF11_uc001wlw.2_Missense_Mutation_p.T253A|DCAF11_uc001wlz.2_Missense_Mutation_p.T153A|DCAF11_uc001wly.2_Missense_Mutation_p.T209A|DCAF11_uc001wme.2_Missense_Mutation_p.T213A|DCAF11_uc010tny.1_Missense_Mutation_p.T120A|DCAF11_uc001wmd.2_Missense_Mutation_p.T253A|DCAF11_uc001wmc.2_Missense_Mutation_p.T153A|DCAF11_uc001wmb.3_Missense_Mutation_p.T227A|DCAF11_uc001wma.3_Missense_Mutation_p.T253A	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	253	WD 2.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGAGGGAGATACACACACTGC	0.463												
DCAF11	80344	broad.mit.edu	37	14	24590142	24590142	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24590142A>G	uc001wlv.2	+	12	1468	c.1188A>G	c.(1186-1188)TCA>TCG	p.S396S	DCAF11_uc001wlw.2_Silent_p.S396S|DCAF11_uc001wlz.2_Silent_p.S296S|DCAF11_uc001wly.2_Silent_p.S352S|DCAF11_uc001wme.2_Silent_p.S356S|DCAF11_uc010tny.1_Silent_p.S263S|DCAF11_uc001wmd.2_Silent_p.S396S|DCAF11_uc001wmc.2_Silent_p.S296S|DCAF11_uc001wmb.3_Silent_p.S370S|DCAF11_uc001wma.3_Silent_p.S396S	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	396						CUL4 RING ubiquitin ligase complex	protein binding				0						TGGAAGCTTCACGCCAGGCTG	0.527												
IRF9	10379	broad.mit.edu	37	14	24633834	24633834	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24633834C>T	uc001wmq.2	+	7	788	c.661C>T	c.(661-663)CTG>TTG	p.L221L	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	221					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CTACTCACTGCTGCTCACCTT	0.637												
TSSK4	283629	broad.mit.edu	37	14	24675813	24675813	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24675813T>C	uc001wng.2	+	2	492	c.324T>C	c.(322-324)GGT>GGC	p.G108G	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Silent_p.G32G|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Silent_p.G108G	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	108	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)		CTCAGGGTGGTGATGTCCTTG	0.542												
SDR39U1	56948	broad.mit.edu	37	14	24910013	24910013	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:24910013T>C	uc001wpm.2	-	5	480	c.448A>G	c.(448-450)ACA>GCA	p.T150A	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.T42A|SDR39U1_uc001wpj.2_Missense_Mutation_p.T68A|SDR39U1_uc001wpk.2_Missense_Mutation_p.T42A|SDR39U1_uc001wpl.2_Missense_Mutation_p.T95A|SDR39U1_uc001wpn.2_5'UTR|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	176							binding			pancreas(1)	1						ACCTGGCGTGTAGAATCTCCA	0.552												
CTSG	1511	broad.mit.edu	37	14	25044010	25044010	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:25044010T>C	uc001wpq.2	-	3	247	c.210A>G	c.(208-210)ATA>ATG	p.I70M		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	70	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GGGTGACATTTATATTGCTGC	0.567												
STXBP6	29091	broad.mit.edu	37	14	25288385	25288385	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:25288385T>C	uc001wpu.2	-	5	1182	c.467A>G	c.(466-468)CAT>CGT	p.H156R	STXBP6_uc001wpv.2_Missense_Mutation_p.H156R|STXBP6_uc001wpw.2_Missense_Mutation_p.H156R|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.H54R	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	156	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		AGCAGCTGAATGGAGGATGCT	0.562												
FOXG1	2290	broad.mit.edu	37	14	29237197	29237197	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:29237197T>A	uc001wqe.2	+	1	911	c.712T>A	c.(712-714)TGC>AGC	p.C238S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	238	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCAACAAGTGCTTCGTGAA	0.592												
FSCB	84075	broad.mit.edu	37	14	44976167	44976167	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:44976167A>G	uc001wvn.2	-	1	333	c.24T>C	c.(22-24)ACT>ACC	p.T8T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	8						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		CTATTACATCAGTTTGCTGGG	0.423												
PRPF39	55015	broad.mit.edu	37	14	45583766	45583766	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45583766T>C	uc001wvz.3	+	13	2072	c.1902T>C	c.(1900-1902)GAT>GAC	p.D634D	PRPF39_uc001wvy.3_Silent_p.D513D|PRPF39_uc010and.2_Silent_p.D424D|PRPF39_uc001wwa.1_Silent_p.D238D	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	634					mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2						AGATGATTGATGGTGATTTAC	0.328												
FKBP3	2287	broad.mit.edu	37	14	45587241	45587241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45587241G>A	uc010tqf.1	-	6	683	c.610C>T	c.(610-612)CCT>TCT	p.P204S		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	204	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						TTGGCATCAGGCTGTCCTTTC	0.408												
FKBP3	2287	broad.mit.edu	37	14	45599093	45599093	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45599093A>G	uc010tqf.1	-	3	295	c.222T>C	c.(220-222)GGT>GGC	p.G74G		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	74					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						TACTTTCAGTACCCTTAAAAC	0.373												
C14orf106	55320	broad.mit.edu	37	14	45700487	45700487	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45700487T>C	uc001wwf.2	-	8	1910	c.1451A>G	c.(1450-1452)AAC>AGC	p.N484S	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	484					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTTTTCCCTGTTCTTTTCACC	0.299												
RPL10L	140801	broad.mit.edu	37	14	47120567	47120567	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:47120567T>C	uc001wwg.2	-	1	462	c.373A>G	c.(373-375)ACT>GCT	p.T125A		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	125					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CGGGCTACAGTACCCTGGGGT	0.547												
RPL10L	140801	broad.mit.edu	37	14	47120671	47120671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:47120671C>T	uc001wwg.2	-	1	358	c.269G>A	c.(268-270)CGG>CAG	p.R90Q		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	90					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GGGATGGAGCCGCACTCGCAT	0.537												
SAV1	60485	broad.mit.edu	37	14	51132299	51132299	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51132299G>C	uc001wyg.1	-	3	294	c.133C>G	c.(133-135)CCA>GCA	p.P45A	SAV1_uc001wyh.1_Missense_Mutation_p.P45A	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	45					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCGTCTTGGAATTGTTGGA	0.358												
NIN	51199	broad.mit.edu	37	14	51219431	51219431	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51219431T>C	uc001wym.2	-	21	4946	c.4755A>G	c.(4753-4755)AAA>AAG	p.K1585K	NIN_uc001wyi.2_Silent_p.K1585K|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.K872K|NIN_uc010tqp.1_Silent_p.K1591K|NIN_uc001wyo.2_Silent_p.K1585K	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1585	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATTGTTGGTTTTTGATTTTTA	0.269			T	PDGFRB	MPD							
NIN	51199	broad.mit.edu	37	14	51224055	51224055	+	Silent	SNP	T	T	A	rs34636266		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51224055T>A	uc001wym.2	-	18	3884	c.3693A>T	c.(3691-3693)CTA>CTT	p.L1231L	NIN_uc001wyi.2_Silent_p.L1231L|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.L1237L|NIN_uc001wyo.2_Silent_p.L1231L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1231	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					GTTTCTTTTTTAGCACAGAAA	0.413			T	PDGFRB	MPD							
ABHD12B	145447	broad.mit.edu	37	14	51347272	51347272	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51347272T>C	uc001wys.2	+	4	453	c.438T>C	c.(436-438)CAT>CAC	p.H146H	ABHD12B_uc001wyq.2_Silent_p.H39H|ABHD12B_uc001wyr.2_Silent_p.H69H|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	146							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TTTATCTTCATGGCAGTGCAG	0.507												
TRIM9	114088	broad.mit.edu	37	14	51561624	51561624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:51561624C>T	uc001wyx.3	-	1	799	c.34G>A	c.(34-36)GTG>ATG	p.V12M	TRIM9_uc001wyy.2_Missense_Mutation_p.V12M|TRIM9_uc001wyz.3_Missense_Mutation_p.V12M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	12	RING-type.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					GAGCCGCACACGGGGCATTTC	0.637												
FRMD6	122786	broad.mit.edu	37	14	52174925	52174925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52174925G>A	uc001wzd.2	+	7	973	c.688G>A	c.(688-690)GCT>ACT	p.A230T	FRMD6_uc001wzb.2_Missense_Mutation_p.A222T|FRMD6_uc001wzc.2_Missense_Mutation_p.A222T|FRMD6_uc001wze.2_Missense_Mutation_p.A153T	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	230	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GGATGACGTCGCTGTTCATTA	0.403												
C14orf166	51637	broad.mit.edu	37	14	52468574	52468574	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52468574A>G	uc010aod.2	+	6	651	c.521A>G	c.(520-522)CAA>CGA	p.Q174R	C14orf166_uc001wzm.3_Missense_Mutation_p.Q40R|C14orf166_uc001wzn.3_Missense_Mutation_p.Q36R	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	174						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)					AAGGCAAATCAAACAAAAGAG	0.348												
PTGER2	5732	broad.mit.edu	37	14	52781392	52781392	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:52781392A>G	uc001wzr.2	+	1	377	c.126A>G	c.(124-126)GCA>GCG	p.A42A		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	42	Helical; Name=1; (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACCTCATAGCACTGGCGCTGC	0.687												
GPR137C	283554	broad.mit.edu	37	14	53020116	53020116	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53020116T>A	uc001wzu.3	+	1	251	c.251T>A	c.(250-252)CTC>CAC	p.L84H	TXNDC16_uc010tqu.1_5'Flank|TXNDC16_uc001wzs.2_5'Flank|TXNDC16_uc010aoe.2_5'Flank|GPR137C_uc001wzt.3_Missense_Mutation_p.L84H	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	84	Helical; (Potential).					integral to membrane					0	Breast(41;0.0716)					TACCAGAGCCTCTGCCTCTTC	0.687												
FERMT2	10979	broad.mit.edu	37	14	53417283	53417283	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53417283C>T	uc001xad.2	-	2	59	c.4G>A	c.(4-6)GCT>ACT	p.A2T	FERMT2_uc001xac.2_Missense_Mutation_p.A2T|FERMT2_uc001xae.2_Missense_Mutation_p.A2T|FERMT2_uc001xaf.2_Missense_Mutation_p.A2T	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	2					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CCGTCCAGAGCCATGGCTCCT	0.617												
DDHD1	80821	broad.mit.edu	37	14	53529696	53529696	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53529696T>C	uc001xai.2	-	7	1961	c.1731A>G	c.(1729-1731)CGA>CGG	p.R577R	DDHD1_uc001xaj.2_Silent_p.R584R|DDHD1_uc001xah.2_Silent_p.R577R|DDHD1_uc001xag.2_Silent_p.R159R|DDHD1_uc001xak.1_5'Flank	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	577					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CAAGAAGATGTCGTTCTTCAT	0.373												
CDKN3	1033	broad.mit.edu	37	14	54886723	54886723	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:54886723T>G	uc001xap.2	+	8	680	c.566T>G	c.(565-567)CTT>CGT	p.L189R	CDKN3_uc001xar.2_Missense_Mutation_p.L149R|CDKN3_uc001xaq.2_Missense_Mutation_p.L188R|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_RNA	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	189					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0						TACAATTATCTTCATGAGTTT	0.323												
EXOC5	10640	broad.mit.edu	37	14	57676479	57676479	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:57676479A>T	uc001xct.2	-	17	1995	c.1744T>A	c.(1744-1746)TAC>AAC	p.Y582N	EXOC5_uc001xcs.2_Missense_Mutation_p.Y261N|EXOC5_uc010trg.1_Missense_Mutation_p.Y527N|EXOC5_uc010trh.1_Missense_Mutation_p.Y517N	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	582					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						TTTCTTACGTAAGCACAGACT	0.353												
DACT1	51339	broad.mit.edu	37	14	59113577	59113577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59113577C>T	uc001xdw.2	+	4	2400	c.2236C>T	c.(2236-2238)CAG>TAG	p.Q746*	DACT1_uc010trv.1_Nonsense_Mutation_p.Q465*|DACT1_uc001xdx.2_Nonsense_Mutation_p.Q709*|DACT1_uc010trw.1_Nonsense_Mutation_p.Q465*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	746					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						TGAGGACGAGCAGAGCAATTA	0.617												
DAAM1	23002	broad.mit.edu	37	14	59791105	59791105	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59791105T>A	uc001xdz.1	+	8	1047	c.922T>A	c.(922-924)TTT>ATT	p.F308I	DAAM1_uc001xea.1_Missense_Mutation_p.F308I|DAAM1_uc001xeb.1_Missense_Mutation_p.F308I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	308	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCGCTATGAATTTCTGATGTT	0.299												
DAAM1	23002	broad.mit.edu	37	14	59835393	59835393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:59835393G>A	uc001xdz.1	+	26	3178	c.3053G>A	c.(3052-3054)CGT>CAT	p.R1018H	DAAM1_uc001xea.1_Missense_Mutation_p.R1008H|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAAGGGAACGTAAAATGAGA	0.378												
PPM1A	5494	broad.mit.edu	37	14	60756548	60756548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60756548G>A	uc010apn.2	+	5	1379	c.977G>A	c.(976-978)GGC>GAC	p.G326D	PPM1A_uc001xew.3_Missense_Mutation_p.G399D|PPM1A_uc001xey.3_Missense_Mutation_p.G326D	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	326					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CAGGGGGAAGGCGTCCCCGAC	0.428												
SIX6	4990	broad.mit.edu	37	14	60977805	60977805	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60977805C>T	uc001xfa.3	+	2	755	c.576C>T	c.(574-576)CTC>CTT	p.L192L		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	192					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CCCGTAGACTCCAGCAGCAGG	0.716												
PRKCH	5583	broad.mit.edu	37	14	62014542	62014542	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:62014542A>T	uc001xfn.2	+	13	2148	c.1843A>T	c.(1843-1845)AAG>TAG	p.K615*	PRKCH_uc010tsa.1_Nonsense_Mutation_p.K454*|PRKCH_uc010tsb.1_Nonsense_Mutation_p.K183*|PRKCH_uc001xfo.2_RNA	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	615	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCCTTTTTTTAAGGAAATCGA	0.517												
SYNE2	23224	broad.mit.edu	37	14	64637149	64637149	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:64637149A>G	uc001xgm.2	+	94	17434	c.17204A>G	c.(17203-17205)TAC>TGC	p.Y5735C	SYNE2_uc001xgl.2_Missense_Mutation_p.Y5735C|SYNE2_uc010apy.2_Missense_Mutation_p.Y2120C|SYNE2_uc001xgn.2_Missense_Mutation_p.Y697C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.Y100C	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5735	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGCCTCTACCAAACCAGA	0.493												
AKAP5	9495	broad.mit.edu	37	14	64935100	64935100	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:64935100G>A	uc001xhd.3	+	2	366	c.-12G>A	c.(-14--10)GAGTG>GAATG		ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GAGAATAAGAGTGCAGTGTAA	0.388												
VTI1B	10490	broad.mit.edu	37	14	68129195	68129195	+	Missense_Mutation	SNP	G	G	A	rs141864546		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:68129195G>A	uc001xjt.2	-	2	569	c.173C>T	c.(172-174)ACG>ATG	p.T58M	VTI1B_uc010aqp.2_Translation_Start_Site|VTI1B_uc001xju.2_Intron	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with	58	Potential.|Cytoplasmic (Potential).				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane					0				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TGTTCTCACCGTTTCATTTGC	0.328												
ZFYVE26	23503	broad.mit.edu	37	14	68270908	68270908	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:68270908G>T	uc001xka.2	-	9	1484	c.1345C>A	c.(1345-1347)CAT>AAT	p.H449N	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H449N|ZFYVE26_uc010tta.1_Missense_Mutation_p.H449N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	449					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTAAGGTGATGGAGAGTGTAG	0.507												
ACTN1	87	broad.mit.edu	37	14	69371427	69371427	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:69371427C>T	uc001xkl.2	-	7	931	c.621G>A	c.(619-621)ACG>ACA	p.T207T	ACTN1_uc010ttb.1_Silent_p.T142T|ACTN1_uc001xkm.2_Silent_p.T207T|ACTN1_uc001xkn.2_Silent_p.T207T|ACTN1_uc001xko.1_Silent_p.T142T|ACTN1_uc010ttd.1_Silent_p.T186T	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	207	CH 2.|Actin-binding.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGTCAAAAGCCGTATTCAGAT	0.522												
SLC39A9	55334	broad.mit.edu	37	14	69925109	69925109	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:69925109C>T	uc001xle.2	+	7	1403	c.723C>T	c.(721-723)AAC>AAT	p.N241N	SLC39A9_uc010aqx.2_Silent_p.N218N|SLC39A9_uc001xlf.3_Intron|SLC39A9_uc001xlg.3_RNA	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	241					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CAGAGGTGAACGCCACGGGAG	0.488												
SLC8A3	6547	broad.mit.edu	37	14	70634916	70634916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70634916G>A	uc001xly.2	-	2	978	c.224C>T	c.(223-225)GCC>GTC	p.A75V	SLC8A3_uc001xlw.2_Missense_Mutation_p.A75V|SLC8A3_uc001xlx.2_Missense_Mutation_p.A75V|SLC8A3_uc001xlz.2_Missense_Mutation_p.A75V|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	75	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AATGACCCTGGCAATCTTGTC	0.512												
ADAM21	8747	broad.mit.edu	37	14	70924361	70924361	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70924361A>G	uc001xmd.2	+	1	145	c.145A>G	c.(145-147)ATC>GTC	p.I49V		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	49					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTTGAAGGTGATCAGCAGGGG	0.542												
ADAM20	8748	broad.mit.edu	37	14	70990174	70990174	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:70990174C>T	uc001xme.2	-	2	1696	c.1451G>A	c.(1450-1452)TGT>TAT	p.C484Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	434	Disintegrin.|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)		TAACAGACAACAGGGATCTTT	0.433												
DCAF4	26094	broad.mit.edu	37	14	73420907	73420907	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:73420907A>T	uc001xng.2	+	10	1064	c.844A>T	c.(844-846)ATC>TTC	p.I282F	DCAF4_uc001xnj.2_Missense_Mutation_p.I283F|DCAF4_uc010ttr.1_Missense_Mutation_p.I261F|DCAF4_uc001xnh.2_Missense_Mutation_p.I182F|DCAF4_uc010tts.1_Missense_Mutation_p.I222F|DCAF4_uc010ttt.1_Missense_Mutation_p.I68F|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.I282F	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	282						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTCCGGATCCCTGGTGC	0.572												
C14orf43	91748	broad.mit.edu	37	14	74196578	74196578	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:74196578G>T	uc001xot.2	-	4	2643	c.1860C>A	c.(1858-1860)GCC>GCA	p.A620A	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Silent_p.A620A|C14orf43_uc010tud.1_Silent_p.A620A|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGACGGGAGGGGCGATGAAAG	0.632												
TTLL5	23093	broad.mit.edu	37	14	76330197	76330197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:76330197C>T	uc001xrx.2	+	29	3719	c.3514C>T	c.(3514-3516)CGG>TGG	p.R1172W	TTLL5_uc010ask.1_Missense_Mutation_p.R1187W|TTLL5_uc001xrz.2_Missense_Mutation_p.R747W|TTLL5_uc001xsa.2_Missense_Mutation_p.R246W	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1172					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)		GAGTCGAGCCCGGCACCAGGT	0.428												
C14orf118	55668	broad.mit.edu	37	14	76620992	76620992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:76620992C>T	uc001xsh.2	+	2	372	c.286C>T	c.(286-288)CGA>TGA	p.R96*	C14orf118_uc001xsi.2_Nonsense_Mutation_p.R96*|C14orf118_uc001xsj.1_Nonsense_Mutation_p.R96*|C14orf118_uc001xsk.1_Nonsense_Mutation_p.R96*|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	96								p.R96Q(1)		ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		GGTAGCCAAACGACACCCAGC	0.498												
KIAA1737	85457	broad.mit.edu	37	14	77580348	77580348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77580348C>T	uc001xtd.2	+	4	1066	c.887C>T	c.(886-888)GCA>GTA	p.A296V	KIAA1737_uc001xtc.1_Missense_Mutation_p.A198V	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	296											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		TTATGGGCTGCAGAGCACCTC	0.512												
TMED8	283578	broad.mit.edu	37	14	77818084	77818084	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77818084A>T	uc001xto.1	-	2	129	c.129T>A	c.(127-129)GAT>GAA	p.D43E	TMED8_uc010ast.1_RNA	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain	43					transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTTTCTAGATCTTCATTCT	0.373												
AHSA1	10598	broad.mit.edu	37	14	77932002	77932002	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77932002A>G	uc001xtw.2	+	6	842	c.682A>G	c.(682-684)ACC>GCC	p.T228A	AHSA1_uc010tvk.1_Missense_Mutation_p.T228A	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	228					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTGTTTACCACCCAAGAGGT	0.498												
ISM2	145501	broad.mit.edu	37	14	77948915	77948915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:77948915C>T	uc001xtz.2	-	4	797	c.723G>A	c.(721-723)TGG>TGA	p.W241*	ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Nonsense_Mutation_p.W153*|ISM2_uc010tvl.1_Nonsense_Mutation_p.W160*	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	241						extracellular region				skin(1)	1						GGGCGGGCAGCCAGCTAAGGG	0.507												
NRXN3	9369	broad.mit.edu	37	14	79117646	79117646	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:79117646A>G	uc001xun.2	+	3	570	c.79A>G	c.(79-81)AAC>GAC	p.N27D	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.N161D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	400	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTCAGCAACAACTTCATGGG	0.438												
PTPN21	11099	broad.mit.edu	37	14	88946101	88946101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:88946101C>T	uc001xwv.3	-	13	2005	c.1674G>A	c.(1672-1674)ATG>ATA	p.M558I	PTPN21_uc010twc.1_Missense_Mutation_p.M354I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	558						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						CCTGCGTCCGCATGATGTTGG	0.701												
EML5	161436	broad.mit.edu	37	14	89124530	89124530	+	Splice_Site	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:89124530C>G	uc001xxg.2	-	27	4063	c.3877_splice	c.e27+1	p.G1293_splice	EML5_uc001xxf.2_Splice_Site_p.G88_splice|EML5_uc001xxh.1_Splice_Site_p.G432_splice	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like							cytoplasm|microtubule				ovary(3)	3						AAATGACGTACCCCCATCTTC	0.333												
EML5	161436	broad.mit.edu	37	14	89163261	89163261	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:89163261T>C	uc001xxg.2	-	16	2460	c.2274A>G	c.(2272-2274)ACA>ACG	p.T758T	EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	758	WD 11.					cytoplasm|microtubule				ovary(3)	3						TAATGGTCTCTGTATCCCATA	0.343												
C14orf102	55051	broad.mit.edu	37	14	90754804	90754804	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:90754804T>G	uc001xyi.1	-	11	2946	c.2915A>C	c.(2914-2916)CAC>CCC	p.H972P	C14orf102_uc010atp.1_Missense_Mutation_p.H477P|C14orf102_uc001xyj.1_Missense_Mutation_p.H741P|C14orf102_uc001xyk.1_Missense_Mutation_p.H164P	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	972							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CACTTTCATGTGGAATCTCAG	0.547												
TTC7B	145567	broad.mit.edu	37	14	91077090	91077090	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91077090C>T	uc001xyp.2	-	17	2084	c.1962G>A	c.(1960-1962)GAG>GAA	p.E654E	TTC7B_uc001xyo.2_Silent_p.E81E|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	654							binding			ovary(2)	2		Melanoma(154;0.222)				TCTCACCTGTCTCGGGATCGC	0.498												
C14orf159	80017	broad.mit.edu	37	14	91691156	91691156	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91691156C>T	uc001xzb.2	+	16	2598	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D	C14orf159_uc001xyx.2_Silent_p.D558D|C14orf159_uc001xyw.2_Silent_p.D615D|C14orf159_uc001xzc.2_Silent_p.D610D|C14orf159_uc001xza.2_Silent_p.D615D|C14orf159_uc001xyv.2_Silent_p.D575D|C14orf159_uc001xyz.2_Silent_p.D486D|C14orf159_uc001xze.2_Silent_p.D610D	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	610						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGCTGGTGGACGTCACCACGG	0.617												
GPR68	8111	broad.mit.edu	37	14	91701203	91701203	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91701203C>T	uc001xzg.2	-	2	533	c.192G>A	c.(190-192)ACG>ACA	p.T64T	GPR68_uc001xzh.2_Silent_p.T74T	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	64	Helical; Name=2; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGTCGGCCACCGTCAGGTTGC	0.632												
CCDC88C	440193	broad.mit.edu	37	14	91804474	91804474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91804474G>A	uc010aty.2	-	10	1024	c.925C>T	c.(925-927)CGT>TGT	p.R309C		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	309	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CGATAGGCACGAGCAGACCGG	0.607												
SMEK1	55671	broad.mit.edu	37	14	91942293	91942293	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:91942293C>T	uc001xzn.2	-	7	1950	c.1128G>A	c.(1126-1128)CAG>CAA	p.Q376Q	SMEK1_uc001xzm.2_Silent_p.Q376Q|SMEK1_uc001xzo.2_Silent_p.Q376Q|SMEK1_uc010atz.2_Silent_p.Q137Q|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.Q252Q	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	376						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CACTTCGCACCTGTGTATCAT	0.368												
GOLGA5	9950	broad.mit.edu	37	14	93299693	93299693	+	Splice_Site	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93299693G>C	uc001yaz.1	+	10	2127	c.1945_splice	c.e10+1	p.G649_splice	GOLGA5_uc001yba.1_Splice_Site_p.G46_splice	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5						Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AATGGTGAAGGTAATCAAAAA	0.368			T	RET	papillary thyroid							
UBR7	55148	broad.mit.edu	37	14	93685689	93685689	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93685689T>C	uc001ybm.3	+	8	1178	c.942T>C	c.(940-942)TGT>TGC	p.C314C	UBR7_uc001ybn.3_Silent_p.C238C|UBR7_uc010auq.2_Silent_p.C163C	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	314							ubiquitin-protein ligase activity|zinc ion binding				0						GCAAGTTGTGTACCTGCCAAG	0.433												
BTBD7	55727	broad.mit.edu	37	14	93760464	93760464	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:93760464T>C	uc001ybo.2	-	3	1228	c.902A>G	c.(901-903)GAA>GGA	p.E301G	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.E216G|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.E216G|BTBD7_uc001ybr.2_Missense_Mutation_p.E301G	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	301	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTCTGTGATTTCTTCACCAGT	0.373												
SERPINA1	5265	broad.mit.edu	37	14	94844961	94844961	+	Missense_Mutation	SNP	A	A	G	rs1131139		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:94844961A>G	uc001ycx.3	-	5	1343	c.1082T>C	c.(1081-1083)GTG>GCG	p.V361A	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.V361A|SERPINA1_uc010aux.2_Missense_Mutation_p.V361A|SERPINA1_uc001ycy.3_Missense_Mutation_p.V361A|SERPINA1_uc010auy.2_Missense_Mutation_p.V361A|SERPINA1_uc001ycz.3_Missense_Mutation_p.V361A|SERPINA1_uc010auz.2_Missense_Mutation_p.V361A|SERPINA1_uc010ava.2_Missense_Mutation_p.V361A|SERPINA1_uc001ydb.3_Missense_Mutation_p.V361A|SERPINA1_uc010avb.2_Missense_Mutation_p.V361A|SERPINA1_uc001ydc.3_Missense_Mutation_p.V361A	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	361					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GATGGTCAGCACAGCCTTATG	0.572									Alpha-1-Antitrypsin_Deficiency			
DICER1	23405	broad.mit.edu	37	14	95562592	95562592	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:95562592A>G	uc001ydw.2	-	24	4847	c.4665T>C	c.(4663-4665)GCT>GCC	p.A1555A	DICER1_uc010avh.1_Silent_p.A453A|DICER1_uc001ydv.2_Silent_p.A1545A|DICER1_uc001ydx.2_Silent_p.A1555A|DICER1_uc001ydy.1_Silent_p.A407A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1555					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCTTTTGTCAGCAATACACT	0.512			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
C14orf49	161176	broad.mit.edu	37	14	95921914	95921914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:95921914G>A	uc001yei.3	-	5	952	c.937C>T	c.(937-939)CGC>TGC	p.R313C	C14orf49_uc010avi.2_Missense_Mutation_p.R313C|C14orf49_uc001yej.1_Missense_Mutation_p.R313C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	313	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CAGAGGGCGCGCAGCTTCTCC	0.617												
ATG2B	55102	broad.mit.edu	37	14	96808017	96808017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:96808017G>A	uc001yfi.2	-	6	1131	c.766C>T	c.(766-768)CCT>TCT	p.P256S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	256										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCCAGCTAGGTGAGAGCTTT	0.313												
EVL	51466	broad.mit.edu	37	14	100604082	100604082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:100604082C>T	uc001ygt.2	+	11	1270	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	EVL_uc001ygv.2_Missense_Mutation_p.P350L|EVL_uc001ygu.2_Missense_Mutation_p.P346L|EVL_uc010avu.2_Missense_Mutation_p.P203L	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	344	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CGTAGAACCCCGTCTGTGGCA	0.622												
ZNF839	55778	broad.mit.edu	37	14	102805235	102805235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:102805235G>A	uc001ylo.2	+	6	1744	c.1394G>A	c.(1393-1395)CGA>CAA	p.R465Q	ZNF839_uc010awk.1_Missense_Mutation_p.R581Q|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.R465Q|ZNF839_uc001ylr.2_Missense_Mutation_p.R390Q|ZNF839_uc001yls.2_Missense_Mutation_p.R80Q|ZNF839_uc001ylt.2_Missense_Mutation_p.R55Q	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	465						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CACCTCAGCCGAGACATGGAT	0.532												
KLC1	3831	broad.mit.edu	37	14	104121164	104121164	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:104121164T>C	uc001yno.2	+	2	569	c.261_splice	c.e2+2	p.Q87_splice	KLC1_uc010tyd.1_Splice_Site_p.Q246_splice|KLC1_uc010tye.1_Splice_Site_p.Q83_splice|KLC1_uc001ynm.1_Splice_Site_p.Q87_splice|KLC1_uc001ynn.1_Splice_Site_p.Q83_splice|KLC1_uc010tyf.1_Splice_Site_p.Q87_splice	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAGGCACAGGTACGAGTGAGA	0.403												
TDRD9	122402	broad.mit.edu	37	14	104460920	104460920	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:104460920C>T	uc001yom.3	+	11	1330	c.1300C>T	c.(1300-1302)CCA>TCA	p.P434S	TDRD9_uc001yon.3_Missense_Mutation_p.P172S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	434	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTTTTTAAGTCCAGTCCCTGG	0.338												
ADSSL1	122622	broad.mit.edu	37	14	105208219	105208219	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105208219C>A	uc001ypd.2	+	9	902	c.828C>A	c.(826-828)ACC>ACA	p.T276T	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.T319T|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	276					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CCAACTGCACCGTGGGCGGTG	0.602												
AHNAK2	113146	broad.mit.edu	37	14	105409919	105409919	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105409919C>T	uc010axc.1	-	7	11989	c.11869G>A	c.(11869-11871)GCC>ACC	p.A3957T	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3857T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3957						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)			TCCTTGTCGGCCAGGGACAGG	0.622												
AHNAK2	113146	broad.mit.edu	37	14	105411037	105411037	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105411037T>C	uc010axc.1	-	7	10871	c.10751A>G	c.(10750-10752)GAC>GGC	p.D3584G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3484G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3584						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)			GCCTTTCAGGTCCAGCTTGGG	0.602												
AHNAK2	113146	broad.mit.edu	37	14	105413365	105413365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105413365G>A	uc010axc.1	-	7	8543	c.8423C>T	c.(8422-8424)GCC>GTC	p.A2808V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2708V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2808						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)			GCTGTCTTTGGCTGTCATGCC	0.612												
AHNAK2	113146	broad.mit.edu	37	14	105419601	105419601	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105419601G>A	uc010axc.1	-	7	2307	c.2187C>T	c.(2185-2187)TCC>TCT	p.S729S	AHNAK2_uc001ypx.2_Silent_p.S629S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	729						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)			CCAGGTCAGCGGAAGGGGTCT	0.652												
AHNAK2	113146	broad.mit.edu	37	14	105420230	105420230	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105420230A>C	uc010axc.1	-	7	1678	c.1558T>G	c.(1558-1560)TCC>GCC	p.S520A	AHNAK2_uc001ypx.2_Missense_Mutation_p.S420A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	520						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)			GCTTTTGAGGACGCATCCTGT	0.537												
CDCA4	55038	broad.mit.edu	37	14	105477960	105477960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105477960G>A	uc001yqa.2	-	2	403	c.307C>T	c.(307-309)CGT>TGT	p.R103C	CDCA4_uc001yqb.2_Missense_Mutation_p.R103C	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	103						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CACGCTGCACGGCACAGGATC	0.662												
MTA1	9112	broad.mit.edu	37	14	105936442	105936442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105936442G>A	uc001yqx.2	+	21	2225	c.2038G>A	c.(2038-2040)GCT>ACT	p.A680T	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.A445T|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	680					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AACCAAGCGTGCTGCCCGCCG	0.711												
OR4N4	283694	broad.mit.edu	37	15	22383083	22383083	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:22383083G>T	uc001yuc.1	+	7	1592	c.611G>T	c.(610-612)GGC>GTC	p.G204V	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.G204V	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCAACAGTGGCCTGATGACA	0.522												
CYFIP1	23191	broad.mit.edu	37	15	22933861	22933861	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:22933861A>G	uc001yus.2	+	8	884	c.780A>G	c.(778-780)AAA>AAG	p.K260K	CYFIP1_uc001yut.2_Silent_p.K260K|CYFIP1_uc010aya.1_Silent_p.K288K	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	260					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)		CCAGTGAGAAACACATGCTTC	0.488												
NIPA1	123606	broad.mit.edu	37	15	23048972	23048972	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:23048972A>G	uc001yvc.2	-	5	872	c.847T>C	c.(847-849)TGG>CGG	p.W283R	NIPA1_uc001yvd.2_Missense_Mutation_p.W113R|NIPA1_uc001yve.2_Missense_Mutation_p.W208R	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	283	Extracellular (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACGTTGCTCCACTCCCGGAAG	0.572												
C15orf2	23742	broad.mit.edu	37	15	24921046	24921046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:24921046G>A	uc001ywo.2	+	1	506	c.32G>A	c.(31-33)GGG>GAG	p.G11E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	11					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTTAGACCCGGGTGCCGCCGC	0.667												
C15orf2	23742	broad.mit.edu	37	15	24924398	24924398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:24924398G>A	uc001ywo.2	+	1	3858	c.3384G>A	c.(3382-3384)TGG>TGA	p.W1128*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	1128					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCACACATGGACAGAGAGAA	0.478												
HERC2	8924	broad.mit.edu	37	15	28366538	28366538	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28366538A>G	uc001zbj.2	-	86	13332	c.13226T>C	c.(13225-13227)GTA>GCA	p.V4409A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4409					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGATCGCGTACCATAGTTGC	0.468												
HERC2	8924	broad.mit.edu	37	15	28386594	28386594	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28386594A>G	uc001zbj.2	-	78	12105	c.11999T>C	c.(11998-12000)GTG>GCG	p.V4000A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4000	RCC1 13.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCAGCCGTCACAGCAAAGAG	0.517												
HERC2	8924	broad.mit.edu	37	15	28413568	28413568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28413568C>T	uc001zbj.2	-	67	10504	c.10398G>A	c.(10396-10398)TGG>TGA	p.W3466*		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3466					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTTTCTTGCCATGGATTTG	0.458												
HERC2	8924	broad.mit.edu	37	15	28447491	28447491	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28447491A>G	uc001zbj.2	-	46	7586	c.7480_splice	c.e46+1	p.G2494_splice	HERC2_uc001zbk.1_Intron	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAACGAAGTACCAGGCAAGC	0.542												
HERC2	8924	broad.mit.edu	37	15	28511077	28511077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28511077G>A	uc001zbj.2	-	13	1748	c.1642C>T	c.(1642-1644)CAG>TAG	p.Q548*	HERC2_uc001zbl.1_Nonsense_Mutation_p.Q243*	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	548	RCC1 1.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCCGGCCTGCTTTCCAGAG	0.567												
APBA2	321	broad.mit.edu	37	15	29398920	29398920	+	Silent	SNP	G	G	A	rs140055297	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:29398920G>A	uc001zck.2	+	11	2022	c.1815G>A	c.(1813-1815)CCG>CCA	p.P605P	APBA2_uc010azj.2_Silent_p.P593P|APBA2_uc010uat.1_Silent_p.P593P|APBA2_uc001zcl.2_Silent_p.P593P	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	605	PDZ 1.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGCGGCCCGGCTGCCCGCT	0.652												
MTMR15	22909	broad.mit.edu	37	15	31197974	31197974	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:31197974A>G	uc001zff.2	+	2	1399	c.1108A>G	c.(1108-1110)ACC>GCC	p.T370A	MTMR15_uc001zfc.3_Missense_Mutation_p.T370A|MTMR15_uc010azw.2_Missense_Mutation_p.T370A|MTMR15_uc001zfd.3_Missense_Mutation_p.T370A|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	370					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TGGTCAAACAACCGGTCATCC	0.473								Direct_reversal_of_damage|Editing_and_processing_nucleases				
OTUD7A	161725	broad.mit.edu	37	15	31776478	31776478	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:31776478C>T	uc001zfq.2	-	11	1893	c.1800G>A	c.(1798-1800)CCG>CCA	p.P600P	OTUD7A_uc001zfr.2_Silent_p.P607P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	600						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCTTCTCCGCCGGCGACGCGC	0.706												
FMN1	342184	broad.mit.edu	37	15	33261405	33261405	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33261405G>A	uc001zhf.3	-	4	1828	c.1828C>T	c.(1828-1830)CTG>TTG	p.L610L		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	833	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGATATTCAGCTTTTTGGGT	0.468												
RYR3	6263	broad.mit.edu	37	15	33603275	33603275	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33603275A>T	uc001zhi.2	+	1	99	c.29A>T	c.(28-30)GAC>GTC	p.D10V	RYR3_uc010bar.2_Missense_Mutation_p.D10V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	10	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)		GGAGGCGAGGACGAGATCCAG	0.751												
RYR3	6263	broad.mit.edu	37	15	33954568	33954568	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33954568A>G	uc001zhi.2	+	35	4907	c.4837A>G	c.(4837-4839)ATC>GTC	p.I1613V	RYR3_uc010bar.2_Missense_Mutation_p.I1613V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1613	4 X approximate repeats.|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)		GCTCATCAGCATCCACCTGGC	0.557												
RYR3	6263	broad.mit.edu	37	15	33990089	33990089	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:33990089A>G	uc001zhi.2	+	40	6211	c.6141A>G	c.(6139-6141)ATA>ATG	p.I2047M	RYR3_uc010bar.2_Missense_Mutation_p.I2047M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2047	4 X approximate repeats.|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)		CTAGAGACATAATGAACAACA	0.458												
RYR3	6263	broad.mit.edu	37	15	34102718	34102718	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:34102718G>A	uc001zhi.2	+	71	10135	c.10065G>A	c.(10063-10065)CGG>CGA	p.R3355R	RYR3_uc010bar.2_Silent_p.R3350R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3355					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)		AGACAAAGCGGCGGGGAGACT	0.517												
SLC12A6	9990	broad.mit.edu	37	15	34529748	34529748	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:34529748A>G	uc001zhw.2	-	21	2970	c.2806T>C	c.(2806-2808)TGG>CGG	p.W936R	SLC12A6_uc001zhv.2_Missense_Mutation_p.W885R|SLC12A6_uc001zhx.2_Missense_Mutation_p.W921R|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.W877R|SLC12A6_uc001zib.2_Missense_Mutation_p.W927R|SLC12A6_uc001zic.2_Missense_Mutation_p.W936R|SLC12A6_uc010bau.2_Missense_Mutation_p.W936R|SLC12A6_uc001zid.2_Missense_Mutation_p.W877R|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.W748R	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	936	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CACTTTCGCCACACCTGAGAG	0.418												
ACTC1	70	broad.mit.edu	37	15	35086915	35086915	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:35086915A>G	uc001ziu.1	-	2	338	c.95T>C	c.(94-96)GTC>GCC	p.V32A	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	32					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGACGGGAAGACAGCGCGGGG	0.682												
FAM98B	283742	broad.mit.edu	37	15	38756237	38756237	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:38756237A>G	uc001zkb.1	+	2	111	c.76A>G	c.(76-78)AAA>GAA	p.K26E	FAM98B_uc001zkc.2_Missense_Mutation_p.K26E	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	26						tRNA-splicing ligase complex	protein binding			ovary(1)	1		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TTCTAGGTATAAAGGACCATT	0.338												
THBS1	7057	broad.mit.edu	37	15	39874866	39874866	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:39874866C>T	uc001zkh.2	+	3	719	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	180	TSP N-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)	CTGAGTTGGACGTCCCCATCC	0.562												
THBS1	7057	broad.mit.edu	37	15	39877747	39877747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:39877747G>A	uc001zkh.2	+	7	1282	c.1103G>A	c.(1102-1104)TGC>TAC	p.C368Y		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	368	VWFC.				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)	GATGGAGAATGCTGTCCTCGC	0.502												
DNAJC17	55192	broad.mit.edu	37	15	41068826	41068826	+	Splice_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41068826C>T	uc001zms.1	-	5	307	c.296_splice	c.e5-1	p.D99_splice	DNAJC17_uc010bbz.1_Splice_Site|DNAJC17_uc010bca.1_Splice_Site|DNAJC17_uc010bcb.1_Splice_Site	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17						protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCCTCCAGGTCTAGACACAAG	0.617												
RPAP1	26015	broad.mit.edu	37	15	41812933	41812933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41812933G>A	uc001zod.2	-	22	3575	c.3451C>T	c.(3451-3453)CCC>TCC	p.P1151S	RPAP1_uc001zoc.2_Missense_Mutation_p.P170S	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1151	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGCAGGGGGCACAGCCCAG	0.657												
RPAP1	26015	broad.mit.edu	37	15	41817238	41817238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41817238G>A	uc001zod.2	-	15	2150	c.2026C>T	c.(2026-2028)CGT>TGT	p.R676C	RPAP1_uc001zoc.2_5'Flank	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	676						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCCACAGACGGAGGGCCTCG	0.622												
SPTBN5	51332	broad.mit.edu	37	15	42170739	42170739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42170739C>T	uc001zos.2	-	17	3499	c.3166G>A	c.(3166-3168)GTG>ATG	p.V1056M		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1091					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGTTGGGCCACTTGTTCCTGT	0.637												
PLA2G4F	255189	broad.mit.edu	37	15	42442320	42442320	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42442320C>A	uc001zoz.2	-	10	968	c.905G>T	c.(904-906)AGC>ATC	p.S302I	PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.S53I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.S53I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.S89I	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	302					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCTTCATGCTCAGAGCCAC	0.602												
ZFP106	64397	broad.mit.edu	37	15	42743616	42743616	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42743616A>G	uc001zpw.2	-	2	1120	c.785T>C	c.(784-786)CTA>CCA	p.L262P	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L45P|ZFP106_uc001zpy.1_Missense_Mutation_p.L285P	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	262						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)		CTTGTTCCATAGCATAGTCAT	0.373												
LRRC57	255252	broad.mit.edu	37	15	42840347	42840347	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42840347C>T	uc001zqd.1	-	2	548	c.180G>A	c.(178-180)AAG>AAA	p.K60K	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.K60K	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	60	LRR 1.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GCAGAGTGAACTTTCCTATCA	0.512												
CDAN1	146059	broad.mit.edu	37	15	43022951	43022951	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43022951G>A	uc001zql.2	-	14	2136	c.2019C>T	c.(2017-2019)GTC>GTT	p.V673V	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	673						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACATCCAGGACCGGAGGGA	0.642												
EPB42	2038	broad.mit.edu	37	15	43500866	43500866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43500866G>A	uc001zra.3	-	7	1240	c.940C>T	c.(940-942)CAG>TAG	p.Q314*	EPB42_uc001zqz.3_5'UTR|EPB42_uc010bde.2_Nonsense_Mutation_p.Q159*|EPB42_uc001zrb.3_Nonsense_Mutation_p.Q344*|EPB42_uc010udm.1_Nonsense_Mutation_p.Q236*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	314					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)		TCTCCGTTCTGAAGTCCCTCC	0.567												
TP53BP1	7158	broad.mit.edu	37	15	43724632	43724632	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:43724632A>G	uc001zrs.2	-	17	3568	c.3420T>C	c.(3418-3420)AGT>AGC	p.S1140S	TP53BP1_uc010udp.1_Silent_p.S1140S|TP53BP1_uc001zrq.3_Silent_p.S1145S|TP53BP1_uc001zrr.3_Silent_p.S1145S|TP53BP1_uc010udq.1_Silent_p.S1145S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1140					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCAAGGCCTTACTAGGATTTT	0.468								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
PDIA3	2923	broad.mit.edu	37	15	44057709	44057709	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:44057709T>C	uc001zsu.2	+	6	812	c.664T>C	c.(664-666)TAT>CAT	p.Y222H	PDIA3_uc010bdp.2_Missense_Mutation_p.Y202H|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	222					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GACTGTGGCATATACAGAGCA	0.348												
SPG11	80208	broad.mit.edu	37	15	44944092	44944092	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:44944092G>C	uc001ztx.2	-	6	1084	c.1053C>G	c.(1051-1053)AAC>AAG	p.N351K	SPG11_uc010ueh.1_Missense_Mutation_p.N351K|SPG11_uc010uei.1_Missense_Mutation_p.N351K|SPG11_uc001zua.1_Missense_Mutation_p.N351K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	351	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAGTTTGGAGTTCTTTATTG	0.418												
DUOX2	50506	broad.mit.edu	37	15	45404884	45404884	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:45404884A>G	uc010bea.2	-	4	396	c.193T>C	c.(193-195)TAC>CAC	p.Y65H	DUOX2_uc001zun.2_Missense_Mutation_p.Y65H|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	65	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCGTCGGCGTAATTGGCTGGT	0.682												
SLC28A2	9153	broad.mit.edu	37	15	45564563	45564563	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:45564563T>C	uc001zva.2	+	16	1784	c.1719T>C	c.(1717-1719)TGT>TGC	p.C573C		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	573	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAGGGGCCTGTGTATCCCTTA	0.483												
SLC12A1	6557	broad.mit.edu	37	15	48518768	48518768	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48518768G>T	uc001zwn.3	+	5	940	c.724G>T	c.(724-726)GGT>TGT	p.G242C	SLC12A1_uc010uew.1_Missense_Mutation_p.G48C|SLC12A1_uc010bem.2_Intron|SLC12A1_uc010uex.1_Missense_Mutation_p.G242C|SLC12A1_uc001zwq.3_Translation_Start_Site|SLC12A1_uc001zwr.3_Translation_Start_Site	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	242	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTTCGTGGAGGTAAAATCTC	0.408												
SLC12A1	6557	broad.mit.edu	37	15	48543836	48543836	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48543836A>G	uc001zwn.3	+	15	2027	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	SLC12A1_uc010uew.1_Missense_Mutation_p.Y410C|SLC12A1_uc010bem.2_Missense_Mutation_p.Y604C|SLC12A1_uc001zwq.3_Missense_Mutation_p.Y375C|SLC12A1_uc001zwr.3_Missense_Mutation_p.Y331C	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	604	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATGGAATTTACAACATGTGG	0.408												
FBN1	2200	broad.mit.edu	37	15	48766477	48766477	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:48766477G>A	uc001zwx.1	-	34	4513	c.4185C>T	c.(4183-4185)TAC>TAT	p.Y1395Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1395	EGF-like 23; calcium-binding.		Missing (in MFS).		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)		CATCACCTGTGTATCCTTCCT	0.478												
COPS2	9318	broad.mit.edu	37	15	49447732	49447732	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:49447732T>C	uc001zxf.2	-	1	123	c.44A>G	c.(43-45)GAC>GGC	p.D15G	GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxh.2_Missense_Mutation_p.D15G|COPS2_uc010ufa.1_Missense_Mutation_p.D15G	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	15					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)		CAGGTCGTAGTCCTCCTCATC	0.502												
HDC	3067	broad.mit.edu	37	15	50540453	50540453	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50540453G>C	uc001zxz.2	-	10	1235	c.1129C>G	c.(1129-1131)CAT>GAT	p.H377D	HDC_uc001zxy.2_Missense_Mutation_p.H120D|HDC_uc010uff.1_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	377					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGTCTGACATGTGCTTGAAGA	0.517												
USP8	9101	broad.mit.edu	37	15	50785029	50785029	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50785029A>G	uc001zym.3	+	16	2866	c.2366A>G	c.(2365-2367)AAC>AGC	p.N789S	USP8_uc001zyl.3_Missense_Mutation_p.N789S|USP8_uc001zyn.3_Missense_Mutation_p.N789S|USP8_uc010ufh.1_Missense_Mutation_p.N683S|uc001zyo.1_RNA|USP8_uc001zyp.3_5'Flank	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	789					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGTTATATGAACTCAATATTG	0.388												
TRPM7	54822	broad.mit.edu	37	15	50888464	50888464	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50888464A>G	uc001zyt.3	-	23	3542	c.3278T>C	c.(3277-3279)ATT>ACT	p.I1093T	TRPM7_uc010bew.1_Missense_Mutation_p.I1093T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1093	Helical; (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAAAATGCAATAAGAAGATT	0.303												
TRPM7	54822	broad.mit.edu	37	15	50899395	50899395	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50899395A>G	uc001zyt.3	-	20	2973	c.2709_splice	c.e20+1	p.E903_splice	TRPM7_uc010bew.1_Splice_Site_p.E903_splice|TRPM7_uc001zyu.2_Splice_Site_p.E461_splice	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,						cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTAAAGACATACCTCACGGAC	0.338												
TRPM7	54822	broad.mit.edu	37	15	50931740	50931740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:50931740C>T	uc001zyt.3	-	6	805	c.541G>A	c.(541-543)GCA>ACA	p.A181T	TRPM7_uc010bew.1_Missense_Mutation_p.A181T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	181	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACATGTTTTGCCACACCTGTT	0.254												
AP4E1	23431	broad.mit.edu	37	15	51207723	51207723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51207723G>A	uc001zyx.1	+	3	331	c.301G>A	c.(301-303)GCA>ACA	p.A101T	AP4E1_uc010ufi.1_Missense_Mutation_p.A101T|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	101					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATTCATGCAATCAAGTT	0.343												
CYP19A1	1588	broad.mit.edu	37	15	51503127	51503127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51503127G>A	uc001zyz.3	-	11	1641	c.1390C>T	c.(1390-1392)CAA>TAA	p.Q464*	CYP19A1_uc001zza.3_Nonsense_Mutation_p.Q464*	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	464					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CACTGTCCTTGCAATGTCTTC	0.478												
DMXL2	23312	broad.mit.edu	37	15	51830437	51830437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51830437G>A	uc002abf.2	-	10	1543	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	DMXL2_uc010ufy.1_Missense_Mutation_p.R440W|DMXL2_uc010bfa.2_Missense_Mutation_p.R440W	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	440						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGTAAACCCCGTTCTCTATCC	0.353												
DMXL2	23312	broad.mit.edu	37	15	51856325	51856325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:51856325C>T	uc002abf.2	-	5	722	c.497G>A	c.(496-498)TGC>TAC	p.C166Y	DMXL2_uc010ufy.1_Missense_Mutation_p.C166Y|DMXL2_uc010bfa.2_Missense_Mutation_p.C166Y	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	166						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CACTAACTTGCACTGCCAGAC	0.353												
MYO5C	55930	broad.mit.edu	37	15	52543637	52543637	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:52543637T>G	uc010bff.2	-	13	1749	c.1612A>C	c.(1612-1614)AAG>CAG	p.K538Q	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	538	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		ATTCTAGGCTTTTCAAACAAA	0.403												
MYO5C	55930	broad.mit.edu	37	15	52563983	52563983	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:52563983G>A	uc010bff.2	-	7	946	c.809C>T	c.(808-810)TCG>TTG	p.S270L	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	270	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		TTTAAATTCCGACTGCTGTGC	0.353												
UNC13C	440279	broad.mit.edu	37	15	54914556	54914556	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:54914556A>G	uc002ack.2	+	29	6138	c.6138A>G	c.(6136-6138)ATA>ATG	p.I2046M	UNC13C_uc002acm.2_Translation_Start_Site	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2046					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGTCAGATATCTGTTCATG	0.423												
CCPG1	9236	broad.mit.edu	37	15	55664072	55664072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:55664072G>A	uc002acv.1	-	6	790	c.625C>T	c.(625-627)CGT>TGT	p.R209C	CCPG1_uc002acy.2_Missense_Mutation_p.R209C|CCPG1_uc002acu.1_Missense_Mutation_p.R65C|CCPG1_uc002acw.1_Translation_Start_Site|CCPG1_uc002acx.2_Missense_Mutation_p.R209C|CCPG1_uc010bfk.1_Missense_Mutation_p.R209C|CCPG1_uc002acz.1_Missense_Mutation_p.R209C	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	209	Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		CTGAACTGACGTTTACTCAAC	0.428												
NEDD4	4734	broad.mit.edu	37	15	56207696	56207696	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56207696T>C	uc002adj.2	-	1	1634	c.1334A>G	c.(1333-1335)CAG>CGG	p.Q445R	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.Q445R|NEDD4_uc010ugj.1_Missense_Mutation_p.Q445R|NEDD4_uc010bfm.2_Missense_Mutation_p.Q445R|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	445					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTGTTCATCTGTGAATGTGG	0.353												
RFX7	64864	broad.mit.edu	37	15	56436621	56436621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56436621C>T	uc010bfn.2	-	3	256	c.256G>A	c.(256-258)GGT>AGT	p.G86S		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TTGCTGAGACCAGAAGGCAGC	0.343												
ALDH1A2	8854	broad.mit.edu	37	15	58285217	58285217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:58285217C>A	uc002aex.2	-	6	668	c.610G>T	c.(610-612)GGC>TGC	p.G204C	ALDH1A2_uc002aey.2_Missense_Mutation_p.G204C|ALDH1A2_uc010ugv.1_Missense_Mutation_p.G183C|ALDH1A2_uc010ugw.1_Missense_Mutation_p.G175C|ALDH1A2_uc002aew.2_Missense_Mutation_p.G108C	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	204					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTGTATTGCCACAGCACAAA	0.463												
RNF111	54778	broad.mit.edu	37	15	59373220	59373220	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:59373220G>A	uc002afv.2	+	8	2313	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P	RNF111_uc002afs.2_Silent_p.P678P|RNF111_uc002aft.2_Silent_p.P678P|RNF111_uc002afu.2_Silent_p.P677P|RNF111_uc002afw.2_Silent_p.P678P|RNF111_uc002afx.2_Silent_p.P204P	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	678	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CTCAGCCTCCGCCTCAAGTGG	0.483												
VPS13C	54832	broad.mit.edu	37	15	62219455	62219455	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:62219455A>G	uc002agz.2	-	52	6425	c.6351T>C	c.(6349-6351)GTT>GTC	p.V2117V	VPS13C_uc002aha.2_Silent_p.V2074V|VPS13C_uc002ahb.1_Silent_p.V2117V|VPS13C_uc002ahc.1_Silent_p.V2074V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2117					protein localization					ovary(2)	2						TCAGGCTGGCAACAAATACCA	0.438												
TLN2	83660	broad.mit.edu	37	15	63055814	63055814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:63055814C>T	uc002alb.3	+	37	5014	c.5014C>T	c.(5014-5016)CGG>TGG	p.R1672W	TLN2_uc002alc.3_Missense_Mutation_p.R65W|TLN2_uc002ald.2_Missense_Mutation_p.R65W	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1672					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						TGGCATCAACCGGTGCATCCG	0.612												
HERC1	8925	broad.mit.edu	37	15	63956768	63956768	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:63956768T>C	uc002amp.2	-	43	8729	c.8581A>G	c.(8581-8583)AAT>GAT	p.N2861D		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2861					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GAAGCTGCATTCTCTGTATGA	0.443												
SNX22	79856	broad.mit.edu	37	15	64446697	64446697	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:64446697C>A	uc002anc.1	+	7	631	c.572C>A	c.(571-573)CCG>CAG	p.P191Q	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	191				P -> L (in Ref. 2; BAB14776).	cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCTCTGCCACCGATGCCCTGA	0.572												
PLEKHO2	80301	broad.mit.edu	37	15	65157253	65157253	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:65157253T>C	uc002anv.2	+	6	773	c.639T>C	c.(637-639)CCT>CCC	p.P213P	PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Silent_p.P163P	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O	213	Pro-rich.									ovary(1)|lung(1)	2						TCCTAGCACCTGAGACCACCA	0.632												
PARP16	54956	broad.mit.edu	37	15	65559078	65559078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:65559078G>A	uc002aoo.2	-	3	595	c.341C>T	c.(340-342)GCT>GTT	p.A114V	PARP16_uc002aop.2_Intron|PARP16_uc002aoq.2_Missense_Mutation_p.A114V	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	114	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CGTGTGAGGAGCCCCAGTCAG	0.438												
MEGF11	84465	broad.mit.edu	37	15	66416333	66416333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:66416333G>A	uc002apm.2	-	3	245	c.104C>T	c.(103-105)GCT>GTT	p.A35V	MEGF11_uc002apl.2_5'UTR|MEGF11_uc002apn.1_Missense_Mutation_p.A35V	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	35	EMI.					basolateral plasma membrane|integral to membrane				pancreas(1)	1						GACAGTCACAGCATAGCTGAG	0.532												
MAP2K1	5604	broad.mit.edu	37	15	66774157	66774157	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:66774157C>T	uc010bhq.2	+	6	1108	c.633C>T	c.(631-633)GTC>GTT	p.V211V	MAP2K1_uc010ujp.1_Silent_p.V189V	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	211	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras 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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						ACTTTGGGGTCAGCGGGCAGC	0.517									Cardiofaciocutaneous_syndrome			
SMAD3	4088	broad.mit.edu	37	15	67457298	67457298	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:67457298T>C	uc002aqj.2	+	2	570	c.272T>C	c.(271-273)CTG>CCG	p.L91P	SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Missense_Mutation_p.L47P|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	91	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TACTGCCGCCTGTGGCGATGG	0.612												
TLE3	7090	broad.mit.edu	37	15	70342461	70342461	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70342461G>T	uc002asm.2	-	20	3413	c.2294C>A	c.(2293-2295)GCC>GAC	p.A765D	TLE3_uc002ask.2_Missense_Mutation_p.A692D|TLE3_uc002asl.2_Missense_Mutation_p.A765D|TLE3_uc010ukd.1_Missense_Mutation_p.A755D|TLE3_uc010bik.1_Missense_Mutation_p.A346D|TLE3_uc010bil.1_Missense_Mutation_p.A762D|TLE3_uc002asn.2_Missense_Mutation_p.A753D|TLE3_uc002asp.2_Missense_Mutation_p.A757D|TLE3_uc002aso.2_Missense_Mutation_p.A760D	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	765	WD 7.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						ATAAACTGTGGCCTTCTTGTC	0.507												
UACA	55075	broad.mit.edu	37	15	70961720	70961720	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70961720A>G	uc002asr.2	-	16	1407	c.1303T>C	c.(1303-1305)TCA>CCA	p.S435P	UACA_uc010uke.1_Missense_Mutation_p.S326P|UACA_uc002asq.2_Missense_Mutation_p.S422P|UACA_uc010bin.1_Missense_Mutation_p.S410P	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	435						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TCAGAGTATGACGTTTGACTG	0.383												
UACA	55075	broad.mit.edu	37	15	70980154	70980154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:70980154C>T	uc002asr.2	-	6	534	c.430G>A	c.(430-432)GCA>ACA	p.A144T	UACA_uc010uke.1_Missense_Mutation_p.A144T|UACA_uc002asq.2_Missense_Mutation_p.A131T|UACA_uc010bin.1_Missense_Mutation_p.A130T	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	144	ANK 4.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						GGACAATCTGCCATTGCTTTA	0.353												
MYO9A	4649	broad.mit.edu	37	15	72172765	72172765	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:72172765A>G	uc002atl.3	-	29	6006	c.5533T>C	c.(5533-5535)TTG>CTG	p.L1845L	MYO9A_uc002atk.2_Silent_p.L640L|MYO9A_uc002atm.1_Silent_p.L641L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1845	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATAGAATCCAAAGCCACGTTG	0.428												
MYO9A	4649	broad.mit.edu	37	15	72192132	72192132	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:72192132T>C	uc002atl.3	-	24	3839	c.3366A>G	c.(3364-3366)ATA>ATG	p.I1122M	MYO9A_uc010biq.2_Missense_Mutation_p.I742M|MYO9A_uc002atn.1_Missense_Mutation_p.I1103M|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1122	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ATCTTGCTTGTATGCAAATAG	0.443												
CD276	80381	broad.mit.edu	37	15	73994824	73994824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:73994824G>A	uc002avv.1	+	3	542	c.308G>A	c.(307-309)GGC>GAC	p.G103D	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.G103D|CD276_uc002avw.1_Missense_Mutation_p.G103D|CD276_uc010ulb.1_Missense_Mutation_p.G49D|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	103	Ig-like V-type 1.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						CTGGCACAGGGCAACGCATCC	0.657												
CD276	80381	broad.mit.edu	37	15	73995270	73995270	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:73995270G>A	uc002avv.1	+	4	810	c.576G>A	c.(574-576)ACG>ACA	p.T192T	CD276_uc010bjd.1_Silent_p.T46T|CD276_uc002avu.1_Silent_p.T192T|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.T138T|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	192	Extracellular (Potential).|Ig-like C2-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						ACGTGACCACGTCGCAGATGG	0.627												
CYP11A1	1583	broad.mit.edu	37	15	74635445	74635445	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74635445A>G	uc002axt.2	-	5	1018	c.863T>C	c.(862-864)TTG>TCG	p.L288S	CYP11A1_uc002axs.2_Missense_Mutation_p.L130S|CYP11A1_uc010bjm.1_Missense_Mutation_p.L130S|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.L288S|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.L68S	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	288					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TTTCTGTCTCAATTCCCAGTA	0.522												
CLK3	1198	broad.mit.edu	37	15	74922144	74922144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74922144G>A	uc010uln.1	+	13	2298	c.1837G>A	c.(1837-1839)GAG>AAG	p.E613K	CLK3_uc002ayg.3_Missense_Mutation_p.E465K|CLK3_uc002ayh.3_Missense_Mutation_p.E244K|CLK3_uc002ayj.3_Missense_Mutation_p.E442K|CLK3_uc002ayk.3_Missense_Mutation_p.E392K|CLK3_uc002ayl.3_Missense_Mutation_p.E298K	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	613	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CACACTGGCCGAGGCCCTGCT	0.602												
EDC3	80153	broad.mit.edu	37	15	74948135	74948135	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:74948135G>A	uc002ayn.2	-	7	1247	c.759C>T	c.(757-759)TCC>TCT	p.S253S	EDC3_uc002ayo.2_Silent_p.S253S|EDC3_uc002aym.2_Silent_p.S253S	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	253	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						CAATGGGCTCGGACTCCAAGA	0.537												
CYP1A2	1544	broad.mit.edu	37	15	75047376	75047376	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:75047376A>G	uc002ayr.1	+	7	1562	c.1498A>G	c.(1498-1500)AAG>GAG	p.K500E		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	500					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCTGACCATGAAGCACGCCCG	0.617												
MAN2C1	4123	broad.mit.edu	37	15	75648756	75648756	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:75648756G>A	uc002baf.2	-	24	2789	c.2772C>T	c.(2770-2772)GCC>GCT	p.A924A	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Intron|MAN2C1_uc002bah.2_Silent_p.A941A|MAN2C1_uc010bkk.2_Silent_p.A825A	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	924					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						TTAGGCTGTAGGCAGCTTGGA	0.617												
FBXO22	26263	broad.mit.edu	37	15	76222269	76222269	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:76222269T>C	uc002bbk.2	+	6	778	c.673T>C	c.(673-675)TAT>CAT	p.Y225H	FBXO22_uc002bbj.1_Missense_Mutation_p.Y225H|FBXO22_uc002bbl.2_Missense_Mutation_p.Y121H	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	225					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						TGTCTTTGGTTATAATTGCTG	0.408												
SCAPER	49855	broad.mit.edu	37	15	77134163	77134163	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77134163T>C	uc002bby.2	-	4	364	c.305A>G	c.(304-306)TAC>TGC	p.Y102C	SCAPER_uc002bbx.2_Translation_Start_Site|SCAPER_uc002bbz.1_Translation_Start_Site|SCAPER_uc002bca.1_Translation_Start_Site|SCAPER_uc002bcb.1_Missense_Mutation_p.Y102C|SCAPER_uc002bcc.1_Missense_Mutation_p.Y102C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	101						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						AAATGCCCAGTATCGAGCTCT	0.403												
PSTPIP1	9051	broad.mit.edu	37	15	77310814	77310814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77310814C>T	uc002bcf.2	+	3	604	c.154C>T	c.(154-156)CGG>TGG	p.R52W	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_5'UTR|PSTPIP1_uc010bku.1_Missense_Mutation_p.R43W|PSTPIP1_uc002bcg.2_Missense_Mutation_p.R52W|PSTPIP1_uc010bkv.1_RNA|PSTPIP1_uc010bkw.1_Missense_Mutation_p.R52W	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	52	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1						GGCGGAGGAGCGGTACGGGAA	0.587												
SGK269	79834	broad.mit.edu	37	15	77473490	77473490	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77473490A>G	uc002bcm.2	-	3	1087	c.779T>C	c.(778-780)TTG>TCG	p.L260S	SGK269_uc002bcn.2_Missense_Mutation_p.L260S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	260					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTCCATGGCCAACAGCTCTTC	0.478												
LINGO1	84894	broad.mit.edu	37	15	77906403	77906403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:77906403T>C	uc002bct.1	-	2	1898	c.1846A>G	c.(1846-1848)AAC>GAC	p.N616D	LINGO1_uc002bcu.1_Missense_Mutation_p.N610D	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	616	Cytoplasmic (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						ATCTTCATGTTGAACTTGCGG	0.448												
CHRNA5	1138	broad.mit.edu	37	15	78873306	78873306	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:78873306T>C	uc002bdy.2	+	2	420	c.258_splice	c.e2+2	p.V86_splice	CHRNA5_uc002bdz.2_Splice_Site_p.V86_splice	NM_000745	NP_000736	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5						behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGGATGTGGTAGGTGTGCAT	0.254												
CHRNB4	1143	broad.mit.edu	37	15	78923514	78923514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:78923514T>C	uc002bed.1	-	4	375	c.263A>G	c.(262-264)TAC>TGC	p.Y88C	CHRNB4_uc002bee.1_Missense_Mutation_p.Y88C|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	88	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GGTCAGGCGGTAATCAGTCCA	0.562												
ADAMTS7	11173	broad.mit.edu	37	15	79058757	79058757	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:79058757C>T	uc002bej.3	-	19	3707	c.3496G>A	c.(3496-3498)GCC>ACC	p.A1166T	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1166					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						AGATCTGGGGCCCCTATGGGG	0.627												
KIAA1024	23251	broad.mit.edu	37	15	79748657	79748657	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:79748657C>T	uc002bew.1	+	2	243	c.168C>T	c.(166-168)CTC>CTT	p.L56L	KIAA1024_uc010unk.1_Silent_p.L56L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	56						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CAGCTTGTCTCGATCCCAATT	0.458												
MESDC2	23184	broad.mit.edu	37	15	81282061	81282061	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:81282061T>C	uc002bfy.1	-	1	145	c.72A>G	c.(70-72)CTA>CTG	p.L24L	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	24	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0						GTGGTagcagtagcagcagca	0.597												
BNC1	646	broad.mit.edu	37	15	83933080	83933080	+	Missense_Mutation	SNP	G	G	A	rs146985300		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:83933080G>A	uc002bjt.1	-	4	1011	c.923C>T	c.(922-924)CCG>CTG	p.P308L	BNC1_uc010uos.1_Missense_Mutation_p.P296L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	308					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AATAGCATCCGGACAGTTTAA	0.448												
PDE8A	5151	broad.mit.edu	37	15	85666327	85666327	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:85666327A>G	uc002blh.2	+	19	2177	c.1988A>G	c.(1987-1989)GAC>GGC	p.D663G	PDE8A_uc002bli.2_Missense_Mutation_p.D617G|PDE8A_uc010bnc.2_Missense_Mutation_p.D416G|PDE8A_uc010bnd.2_Missense_Mutation_p.D416G|PDE8A_uc002blj.2_Missense_Mutation_p.D283G|PDE8A_uc002blk.2_Missense_Mutation_p.D283G|PDE8A_uc002bll.2_Missense_Mutation_p.D15G	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	663	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGGATTATCGACATGGTCTTA	0.433												
AKAP13	11214	broad.mit.edu	37	15	86278287	86278287	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:86278287C>T	uc002blv.1	+	31	7517	c.7347C>T	c.(7345-7347)AGC>AGT	p.S2449S	AKAP13_uc002blu.1_Silent_p.S2453S|AKAP13_uc002blw.1_Silent_p.S914S|AKAP13_uc002blx.1_Silent_p.S694S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2449	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						CTGTCAGCAGCCCCATTGAGC	0.502												
RLBP1	6017	broad.mit.edu	37	15	89758315	89758315	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89758315T>C	uc002bnl.2	-	6	881	c.501A>G	c.(499-501)CAA>CAG	p.Q167Q		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	167	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TTTCTTGACTTTGCCAGTTCT	0.577												
FANCI	55215	broad.mit.edu	37	15	89828419	89828419	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89828419G>A	uc010bnp.1	+	18	1881	c.1791G>A	c.(1789-1791)CAG>CAA	p.Q597Q	FANCI_uc002bnm.1_Silent_p.Q597Q|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.Q418Q|FANCI_uc002bnq.1_Silent_p.Q10Q	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	597					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCTTAAGCCAGCAAGCTGATG	0.373								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
POLG	5428	broad.mit.edu	37	15	89870444	89870444	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:89870444A>G	uc002bns.3	-	7	1669	c.1387T>C	c.(1387-1389)TTG>CTG	p.L463L	POLG_uc002bnr.3_Silent_p.L463L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	463			L -> F.		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGATCCATCAACGACTTCTTC	0.607								DNA_polymerases_(catalytic_subunits)				
C15orf42	90381	broad.mit.edu	37	15	90169244	90169244	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:90169244C>T	uc002boe.2	+	21	5554	c.5554C>T	c.(5554-5556)CTG>TTG	p.L1852L	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1852					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)			CCAGTCTCCGCTGCTGTTCCA	0.557												
FURIN	5045	broad.mit.edu	37	15	91423207	91423207	+	Missense_Mutation	SNP	G	G	A	rs138927071		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91423207G>A	uc002bpu.1	+	12	1585	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	457					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATCCTCACCGAGCCCAAGTG	0.662												
FURIN	5045	broad.mit.edu	37	15	91424194	91424194	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91424194C>T	uc002bpu.1	+	15	1932	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	572	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TACTCTATGGCACCGCCCCTG	0.612												
UNC45A	55898	broad.mit.edu	37	15	91496765	91496765	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:91496765T>C	uc002bqg.2	+	20	2994	c.2654T>C	c.(2653-2655)GTG>GCG	p.V885A	UNC45A_uc002bqd.2_Missense_Mutation_p.V870A|UNC45A_uc010uqr.1_Missense_Mutation_p.V277A|UNC45A_uc002bqi.2_Missense_Mutation_p.V163A|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	885					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGTGCTGTGGTGGTGCTGAAC	0.567												
ST8SIA2	8128	broad.mit.edu	37	15	92973323	92973323	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:92973323T>A	uc002bra.2	+	2	298	c.143T>A	c.(142-144)TTA>TAA	p.L48*	ST8SIA2_uc002brb.2_Intron	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	48	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGAACAGCTTACATAGCAAA	0.393												
ST8SIA2	8128	broad.mit.edu	37	15	92987897	92987897	+	Missense_Mutation	SNP	C	C	T	rs146396658		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:92987897C>T	uc002bra.2	+	5	735	c.580C>T	c.(580-582)CGG>TGG	p.R194W	ST8SIA2_uc002brb.2_Missense_Mutation_p.R173W	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	194	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGAGTATGCCCGGGATGTGGG	0.567												
IGF1R	3480	broad.mit.edu	37	15	99467785	99467785	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:99467785A>G	uc002bul.2	+	13	2704	c.2654A>G	c.(2653-2655)TAC>TGC	p.Y885C	IGF1R_uc010bon.2_Missense_Mutation_p.Y885C|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	885	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	AGACAGGAATACAGGAAGTAT	0.507												
IGF1R	3480	broad.mit.edu	37	15	99467821	99467821	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:99467821A>G	uc002bul.2	+	13	2740	c.2690A>G	c.(2689-2691)AAC>AGC	p.N897S	IGF1R_uc010bon.2_Missense_Mutation_p.N897S|IGF1R_uc010boo.1_RNA	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	897	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|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			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	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)	AACCGGCTAAACCCGGGGAAC	0.502												
LRRK1	79705	broad.mit.edu	37	15	101528908	101528908	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101528908T>C	uc002bwr.2	+	5	822	c.503T>C	c.(502-504)GTT>GCT	p.V168A	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.V168A	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	168	ANK 3.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGGGGGTTGTGAAGCTC	0.627												
CHSY1	22856	broad.mit.edu	37	15	101718849	101718849	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101718849A>G	uc002bwt.1	-	4	1636	c.1153T>C	c.(1153-1155)TAT>CAT	p.Y385H	CHSY1_uc010usd.1_Missense_Mutation_p.Y113H	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	385	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGCCGAATACAAGTATTTT	0.552												
HBM	3042	broad.mit.edu	37	16	216278	216278	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:216278T>C	uc002cfu.1	+	2	128	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_001003938	NP_001003938	Q6B0K9	HBM_HUMAN	hemoglobin mu chain	35						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCTTCACGGTGTACCCCAGC	0.711												
MRPL28	10573	broad.mit.edu	37	16	418359	418359	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:418359G>A	uc002cgr.1	-	4	648	c.632C>T	c.(631-633)GCC>GTC	p.A211V	MRPL28_uc010bqu.1_Intron|MRPL28_uc002cgs.1_Missense_Mutation_p.A211V|MRPL28_uc002cgt.1_Missense_Mutation_p.A211V	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	211					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CTTCTCAATGGCCTCCTCCAG	0.622												
SOLH	6650	broad.mit.edu	37	16	601649	601649	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:601649A>G	uc002chi.2	+	9	2693	c.2330A>G	c.(2329-2331)TAC>TGC	p.Y777C	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	777	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)				TGGATGGAGTACGGCGACTTT	0.672												
WDR90	197335	broad.mit.edu	37	16	703790	703790	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:703790A>G	uc002cii.1	+	13	1478	c.1424A>G	c.(1423-1425)CAC>CGC	p.H475R	WDR90_uc002cig.1_Missense_Mutation_p.H475R|WDR90_uc002cih.1_Missense_Mutation_p.H476R|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank|WDR90_uc002cil.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	475	WD 2.									ovary(1)	1		Hepatocellular(780;0.0218)				GGCAAGGACCACCACGGGAGG	0.637												
WDR24	84219	broad.mit.edu	37	16	739346	739346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:739346C>T	uc002ciz.1	-	1	1055	c.295G>A	c.(295-297)GTG>ATG	p.V99M		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	161	WD 1.									ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CACGTGACCACCACGCCATTG	0.607												
MSLNL	401827	broad.mit.edu	37	16	830428	830428	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:830428T>C	uc002cjz.1	-	3	573	c.573A>G	c.(571-573)GCA>GCG	p.A191A		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:Variant_position_missing_in_Q96KJ4_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						AGTGACAGTGTGCACGGGTAG	0.572												
CHTF18	63922	broad.mit.edu	37	16	843186	843186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:843186G>A	uc002cke.3	+	14	1777	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M	CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.V600M|CHTF18_uc010brf.2_Missense_Mutation_p.V154M|CHTF18_uc002ckg.3_Missense_Mutation_p.V90M	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	572					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				CGTGCGGGACGTGCAGGCCAC	0.687												
CHTF18	63922	broad.mit.edu	37	16	847005	847005	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:847005T>C	uc002cke.3	+	20	2709	c.2646T>C	c.(2644-2646)ATT>ATC	p.I882I	CHTF18_uc002ckf.3_Silent_p.I910I|CHTF18_uc010brf.2_Silent_p.I464I|CHTF18_uc002ckg.3_Silent_p.I400I	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	882					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				TGGGGGGCATTGGGGAGAAAG	0.652												
BAIAP3	8938	broad.mit.edu	37	16	1394107	1394107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1394107A>G	uc002clk.1	+	16	1576	c.1576A>G	c.(1576-1578)ACC>GCC	p.T526A	BAIAP3_uc002clj.2_Missense_Mutation_p.T508A|BAIAP3_uc010uuz.1_Missense_Mutation_p.T491A|BAIAP3_uc010uva.1_Missense_Mutation_p.T463A|BAIAP3_uc010uvc.1_Missense_Mutation_p.T455A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	526					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CTTCCCTGCCACCAACAGCAC	0.687												
BAIAP3	8938	broad.mit.edu	37	16	1397758	1397758	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1397758G>A	uc002clk.1	+	31	3066	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	BAIAP3_uc002clj.2_Silent_p.A1004A|BAIAP3_uc010uuz.1_Silent_p.A987A|BAIAP3_uc010uva.1_Silent_p.A959A|BAIAP3_uc010uvc.1_Silent_p.A951A	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1022	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ATTACGAGGCGGCTGAGCAGC	0.706												
CLCN7	1186	broad.mit.edu	37	16	1510448	1510448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1510448C>T	uc002clv.2	-	6	675	c.565G>A	c.(565-567)GTG>ATG	p.V189M	CLCN7_uc002clw.2_Missense_Mutation_p.V165M	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	189	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				ACAGAGCCCACGAGCACGAAG	0.597												
EME2	197342	broad.mit.edu	37	16	1825690	1825690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:1825690G>A	uc002cmq.1	+	6	937	c.937G>A	c.(937-939)GTG>ATG	p.V313M	MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCTCAAGTGCGTGATGCCAAG	0.602								Direct_reversal_of_damage|Homologous_recombination				
SLC9A3R2	9351	broad.mit.edu	37	16	2086386	2086386	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2086386A>G	uc002coi.2	+	3	595	c.476A>G	c.(475-477)CAG>CGG	p.Q159R	SLC9A3R2_uc002coj.2_Missense_Mutation_p.Q159R|SLC9A3R2_uc002cok.2_Missense_Mutation_p.Q48R	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	solute carrier family 9 isoform 3 regulator 2	159	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)	1						AAGGGACCTCAGGGCTATGGG	0.677												
PKD1	5310	broad.mit.edu	37	16	2150541	2150541	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2150541G>A	uc002cos.1	-	27	9633	c.9424C>T	c.(9424-9426)CTG>TTG	p.L3142L	PKD1_uc002cot.1_Silent_p.L3142L|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3142	PLAT.|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						ACCCCATACAGCATGATGCCC	0.667												
PKD1	5310	broad.mit.edu	37	16	2161268	2161268	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2161268T>C	uc002cos.1	-	15	4109	c.3900A>G	c.(3898-3900)GAA>GAG	p.E1300E	PKD1_uc002cot.1_Silent_p.E1300E	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1300	PKD 8.|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						AGGCGGCGGGTTCAACGCGCA	0.701												
TRAF7	84231	broad.mit.edu	37	16	2222242	2222242	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2222242G>A	uc002cow.2	+	8	625	c.526G>A	c.(526-528)GCG>ACG	p.A176T		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	176					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GAACAACATCGCGGTGGCCGA	0.667												
DNASE1L2	1775	broad.mit.edu	37	16	2287970	2287970	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2287970C>T	uc002cpo.2	+	5	1188	c.794C>T	c.(793-795)TCG>TTG	p.S265L	DNASE1L2_uc002cpn.2_Missense_Mutation_p.S244L|DNASE1L2_uc002cpp.2_Missense_Mutation_p.S265L|DNASE1L2_uc002cpq.2_Missense_Mutation_p.S265L	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	265					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						AAGCCCCAGTCGGCCACCGTG	0.706												
DNASE1	1773	broad.mit.edu	37	16	3707217	3707217	+	Silent	SNP	G	G	A	rs34984360		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3707217G>A	uc002cvr.2	+	7	2686	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	193					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)	ACTTCAATGCGGGCTGCAGCT	0.642								Direct_reversal_of_damage				
CREBBP	1387	broad.mit.edu	37	16	3820608	3820608	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3820608T>C	uc002cvv.2	-	14	3047	c.2843A>G	c.(2842-2844)CAG>CGG	p.Q948R	CREBBP_uc002cvw.2_Missense_Mutation_p.Q910R	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	948					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			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)		AGGCGTCGGCTGTTGCTGCGA	0.592			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
TFAP4	7023	broad.mit.edu	37	16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4312644G>A	uc010uxg.1	-	2	402	c.148C>T	c.(148-150)CGG>TGG	p.R50W		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	50	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCGATCTCCCGCCGAATCCGC	0.632												
CORO7	79585	broad.mit.edu	37	16	4411442	4411442	+	Missense_Mutation	SNP	G	G	A	rs145925246		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4411442G>A	uc002cwh.3	-	17	1727	c.1607C>T	c.(1606-1608)ACG>ATG	p.T536M	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.T536M|CORO7_uc002cwg.3_Missense_Mutation_p.T316M|CORO7_uc010uxh.1_Missense_Mutation_p.T518M|CORO7_uc010uxi.1_Missense_Mutation_p.T451M|CORO7_uc002cwi.1_Missense_Mutation_p.T316M|CORO7_uc010uxj.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	536						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GGGCAGTGCCGTGTCGGGCAG	0.682												
GLYR1	84656	broad.mit.edu	37	16	4882163	4882163	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4882163A>G	uc002cxx.3	-	5	391	c.354T>C	c.(352-354)AGT>AGC	p.S118S	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.S49S|GLYR1_uc002cya.2_Silent_p.S118S|GLYR1_uc010uxv.1_Intron	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	118					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						AGTTTGGCCTACTTCTCTCCT	0.433												
GLYR1	84656	broad.mit.edu	37	16	4895126	4895126	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4895126T>C	uc002cxx.3	-	3	141	c.104A>G	c.(103-105)AAA>AGA	p.K35R	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_5'UTR|GLYR1_uc002cya.2_Missense_Mutation_p.K35R|GLYR1_uc010uxv.1_Missense_Mutation_p.K35R|UBN1_uc010uxw.1_5'Flank|UBN1_uc002cyb.2_5'Flank	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	35	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						TCCGCGAGGTTTCTTCAAGTC	0.453												
PPL	5493	broad.mit.edu	37	16	4933690	4933690	+	Missense_Mutation	SNP	G	G	A	rs140094738	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4933690G>A	uc002cyd.1	-	22	5056	c.4966C>T	c.(4966-4968)CGC>TGC	p.R1656C		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1656	Plectin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						ACGATGGAGCGCCGCAGGTGG	0.632												
PPL	5493	broad.mit.edu	37	16	4940785	4940785	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4940785G>A	uc002cyd.1	-	17	2196	c.2106C>T	c.(2104-2106)GCC>GCT	p.A702A		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	702	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TGTGCACCTCGGCCTCCTGGC	0.587												
CIITA	4261	broad.mit.edu	37	16	10989150	10989150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:10989150T>C	uc002dai.3	+	2	197	c.64T>C	c.(64-66)TGT>CGT	p.C22R	CIITA_uc002daj.3_Missense_Mutation_p.C22R|CIITA_uc002dak.3_Missense_Mutation_p.C22R|CIITA_uc002dag.2_Missense_Mutation_p.C22R|CIITA_uc002dah.2_Missense_Mutation_p.C22R|CIITA_uc010bup.1_Missense_Mutation_p.C22R	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	22					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						CAGCTCACAGTGTGCCACCAT	0.552			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
CLEC16A	23274	broad.mit.edu	37	16	11214490	11214490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:11214490C>T	uc002dao.2	+	20	2365	c.2135C>T	c.(2134-2136)GCA>GTA	p.A712V	CLEC16A_uc002dan.3_Missense_Mutation_p.A694V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	712										ovary(1)|central_nervous_system(1)	2						GACTTGATTGCATGTACAGTG	0.527												
ERCC4	2072	broad.mit.edu	37	16	14026125	14026125	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:14026125A>G	uc002dce.2	+	6	1094	c.1085A>G	c.(1084-1086)GAA>GGA	p.E362G	ERCC4_uc010bva.2_Missense_Mutation_p.E362G|ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	362					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						GAAAAAATGGAAATTAAAGAA	0.328			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
NDE1	54820	broad.mit.edu	37	16	15785075	15785075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:15785075G>A	uc002ddt.1	+	5	641	c.598G>A	c.(598-600)GAG>AAG	p.E200K	NDE1_uc010uzy.1_Missense_Mutation_p.E200K|NDE1_uc002dds.2_Missense_Mutation_p.E200K|NDE1_uc002ddu.1_Missense_Mutation_p.E137K	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	200	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						AGTGGAAGCTGAGAGGACAGA	0.587												
SMG1	23049	broad.mit.edu	37	16	18856807	18856807	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:18856807G>A	uc002dfm.2	-	39	6526	c.6163C>T	c.(6163-6165)CTG>TTG	p.L2055L	SMG1_uc010bwb.2_Silent_p.L1915L|SMG1_uc010bwa.2_Silent_p.L786L|SMG1_uc002dfo.3_Silent_p.L353L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2055					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						GGAGTCTTCAGTTTTTCTAGG	0.453												
ACSM2A	123876	broad.mit.edu	37	16	20491953	20491953	+	Missense_Mutation	SNP	G	G	C	rs145697504		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20491953G>C	uc010bwe.2	+	12	1579	c.1340G>C	c.(1339-1341)CGG>CCG	p.R447P	ACSM2A_uc010vax.1_Missense_Mutation_p.R368P|ACSM2A_uc002dhf.3_Missense_Mutation_p.R447P|ACSM2A_uc002dhg.3_Missense_Mutation_p.R447P|ACSM2A_uc010vay.1_Missense_Mutation_p.R368P|ACSM2A_uc002dhh.3_Missense_Mutation_p.R77P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CTTGGAGACCGGGGAATCAAA	0.498												
ACSM2B	348158	broad.mit.edu	37	16	20554526	20554526	+	Missense_Mutation	SNP	C	C	G	rs146841908	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20554526C>G	uc002dhj.3	-	12	1550	c.1340G>C	c.(1339-1341)CGG>CCG	p.R447P	ACSM2B_uc002dhk.3_Missense_Mutation_p.R447P|ACSM2B_uc010bwf.1_Missense_Mutation_p.R447P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	447					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						TTTGATTCCCCGGTCTCCAAG	0.498												
DNAH3	55567	broad.mit.edu	37	16	21123335	21123335	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21123335A>G	uc010vbe.1	-	13	1899	c.1899T>C	c.(1897-1899)CAT>CAC	p.H633H	DNAH3_uc002die.2_Silent_p.H573H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	633	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCAATGTCATGATTTTCTT	0.388												
TMEM159	57146	broad.mit.edu	37	16	21181777	21181777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21181777C>T	uc002dif.3	+	3	477	c.116C>T	c.(115-117)TCT>TTT	p.S39F	TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.S63F|TMEM159_uc002dih.3_Missense_Mutation_p.S39F	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	39						integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)		TTTATGAAGTCTCCAGTGGGT	0.512												
ZP2	7783	broad.mit.edu	37	16	21213112	21213112	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:21213112T>C	uc002dii.2	-	13	1419	c.1419A>G	c.(1417-1419)CTA>CTG	p.L473L	ZP2_uc010bwn.1_Silent_p.L503L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	473	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TGATGTTTAGTAGCATGTCAT	0.418												
EEF2K	29904	broad.mit.edu	37	16	22271788	22271788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:22271788C>T	uc002dki.2	+	11	1722	c.1237C>T	c.(1237-1239)CCA>TCA	p.P413S	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	413					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CCCAGATTGGCCAGTGTTCAG	0.552												
RBBP6	5930	broad.mit.edu	37	16	24580095	24580095	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:24580095A>G	uc002dmh.2	+	17	3124	c.2084A>G	c.(2083-2085)TAT>TGT	p.Y695C	RBBP6_uc010vcb.1_Missense_Mutation_p.Y562C|RBBP6_uc002dmi.2_Missense_Mutation_p.Y661C|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.Y528C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	695					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGTTCTTCGTATTCAAGAAGT	0.343												
ZKSCAN2	342357	broad.mit.edu	37	16	25264314	25264314	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:25264314T>C	uc002dod.3	-	3	1038	c.631A>G	c.(631-633)ACC>GCC	p.T211A	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.Y3C|ZKSCAN2_uc002doe.2_Missense_Mutation_p.T211A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	211					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGATCTAGGGTATTCCATTCA	0.388												
JMJD5	79831	broad.mit.edu	37	16	27226316	27226316	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27226316A>G	uc002doh.2	+	4	967	c.785A>G	c.(784-786)TAC>TGC	p.Y262C	JMJD5_uc010vcn.1_Missense_Mutation_p.Y300C|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	262					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						ATCAGCAAATACATCGTGAAT	0.493												
GTF3C1	2975	broad.mit.edu	37	16	27473658	27473658	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27473658T>C	uc002dov.1	-	36	6114	c.6074A>G	c.(6073-6075)TAC>TGC	p.Y2025C	GTF3C1_uc002dou.2_Missense_Mutation_p.Y2000C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	2025						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GACCCCCTGGTAGTGGCGCAG	0.647												
GTF3C1	2975	broad.mit.edu	37	16	27475947	27475947	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27475947T>C	uc002dov.1	-	34	5606	c.5566A>G	c.(5566-5568)AGC>GGC	p.S1856G	GTF3C1_uc002dou.2_Missense_Mutation_p.S1856G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1856						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCCCGGGGGCTGTGAGAAGGA	0.687												
GTF3C1	2975	broad.mit.edu	37	16	27499707	27499707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27499707C>T	uc002dov.1	-	23	3581	c.3541G>A	c.(3541-3543)GCA>ACA	p.A1181T	GTF3C1_uc002dou.2_Missense_Mutation_p.A1181T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1181						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCTACTCTTGCTTCCCCCCAA	0.547												
KIAA0556	23247	broad.mit.edu	37	16	27629755	27629755	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:27629755A>G	uc002dow.2	+	3	97	c.73A>G	c.(73-75)AAG>GAG	p.K25E		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	25										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GGGTTACGCTAAGGACATGGT	0.498												
SULT1A1	6817	broad.mit.edu	37	16	28619888	28619888	+	Missense_Mutation	SNP	T	T	C	rs72547526		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:28619888T>C	uc002dqi.2	-	2	658	c.185A>G	c.(184-186)TAC>TGC	p.Y62C	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqk.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dql.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.Y153C|SULT1A1_uc002dqo.2_Missense_Mutation_p.Y62C|SULT1A1_uc002dqp.2_Missense_Mutation_p.Y62C	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	62					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						ACCACCCTGGTAGATCATGTC	0.602												
SPNS1	83985	broad.mit.edu	37	16	28995116	28995116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:28995116C>T	uc010vdi.1	+	12	1470	c.1330C>T	c.(1330-1332)CGC>TGC	p.R444C	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R371C|SPNS1_uc002dsa.2_Missense_Mutation_p.R444C|SPNS1_uc002drz.2_Missense_Mutation_p.R392C|SPNS1_uc010byp.2_Missense_Mutation_p.R370C|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	444					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GATCTCTGACCGCCTGCGCCG	0.642												
MAZ	4150	broad.mit.edu	37	16	29819116	29819116	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29819116A>G	uc002dty.2	+	2	1178	c.1010A>G	c.(1009-1011)TAC>TGC	p.Y337C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.Y314C|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.Y337C|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.Y55C|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	337	C2H2-type 4.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						CACAAGCCCTACAACTGCTCC	0.682												
SEZ6L2	26470	broad.mit.edu	37	16	29910333	29910333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29910333G>A	uc002duq.3	-	1	248	c.8C>T	c.(7-9)ACT>ATT	p.T3I	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T3I|SEZ6L2_uc002dur.3_Missense_Mutation_p.T3I|SEZ6L2_uc002dus.3_Missense_Mutation_p.T3I|SEZ6L2_uc010vec.1_Missense_Mutation_p.T3I|SEZ6L2_uc010ved.1_Missense_Mutation_p.T3I|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	3						endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGCCCTGGGAGTCCCCATGGC	0.582												
TAOK2	9344	broad.mit.edu	37	16	29999030	29999030	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29999030T>C	uc002dva.1	+	16	4220	c.3437T>C	c.(3436-3438)CTG>CCG	p.L1146P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.L1153P|TAOK2_uc002dvd.1_Missense_Mutation_p.L973P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1146					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						CCATTAGCTCTGTTGGCAAGG	0.652												
HIRIP3	8479	broad.mit.edu	37	16	30004857	30004857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30004857C>T	uc002dve.2	-	6	1891	c.1430G>A	c.(1429-1431)TGT>TAT	p.C477Y	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Silent_p.V164V	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	477					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						CAGGGCCCGACACTTCCCTAG	0.637												
INO80E	283899	broad.mit.edu	37	16	30012832	30012832	+	Missense_Mutation	SNP	G	G	A	rs147726848		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30012832G>A	uc002dvg.1	+	6	595	c.494G>A	c.(493-495)CGC>CAC	p.R165H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.R165H|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Intron	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	165	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1						AAACGGCCCCGCCTGCCCCGG	0.597												
DOC2A	8448	broad.mit.edu	37	16	30018259	30018259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30018259G>A	uc002dvm.2	-	8	825	c.725C>T	c.(724-726)GCG>GTG	p.A242V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.A240V|DOC2A_uc002dvn.2_Missense_Mutation_p.A242V|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.A242V|DOC2A_uc002dvp.2_Missense_Mutation_p.A242V|DOC2A_uc002dvq.2_Missense_Mutation_p.A242V	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	242	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			ovary(2)	2						CCCCTGCTCCGCCTGCTCCAA	0.682												
PPP4C	5531	broad.mit.edu	37	16	30096053	30096053	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30096053A>G	uc002dwe.2	+	8	815	c.671A>G	c.(670-672)CAG>CGG	p.Q224R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.Q224R|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.Q145R	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	224					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GTGGTGGCCCAGTTCAACGCA	0.582												
PPP4C	5531	broad.mit.edu	37	16	30096119	30096119	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30096119A>G	uc002dwe.2	+	8	881	c.737A>G	c.(736-738)AAG>AGG	p.K246R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.K246R|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.K167R	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	246					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						GAAGGTTACAAGTGGCACTTC	0.602												
ZNF646	9726	broad.mit.edu	37	16	31091576	31091576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31091576G>A	uc002eap.2	+	2	4220	c.3931G>A	c.(3931-3933)GCC>ACC	p.A1311T		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1311	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CTATCGCCACGCCGGCAGCCT	0.697												
BCKDK	10295	broad.mit.edu	37	16	31121734	31121734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31121734G>A	uc002eaw.3	+	7	872	c.556G>A	c.(556-558)GTC>ATC	p.V186I	BCKDK_uc002eav.3_Missense_Mutation_p.V186I|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.V186I	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	186	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						TGAAAAGCTCGTCCGCTACTT	0.587												
BCKDK	10295	broad.mit.edu	37	16	31122443	31122443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31122443C>T	uc002eaw.3	+	9	1064	c.748C>T	c.(748-750)CCC>TCC	p.P250S	BCKDK_uc002eav.3_Missense_Mutation_p.P250S|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.P250S	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	250	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						TGGCAATGCGCCCCGTGTCCG	0.522												
PYCARD	29108	broad.mit.edu	37	16	31213142	31213142	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31213142G>T	uc010cak.2	-	3	592	c.352C>A	c.(352-354)CAC>AAC	p.H118N	PYCARD_uc002ebm.2_Missense_Mutation_p.H99N	NM_013258	NP_037390	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing isoform a	118	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding				0						GCAGCCCGGTGCTGGTCTATA	0.602												
ITGAX	3687	broad.mit.edu	37	16	31388516	31388516	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:31388516C>A	uc002ebu.1	+	23	2786	c.2719C>A	c.(2719-2721)CCC>ACC	p.P907T	ITGAX_uc002ebt.2_Missense_Mutation_p.P907T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	907	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAACAACACTCCCAGGACCAG	0.582												
GPT2	84706	broad.mit.edu	37	16	46934625	46934625	+	Missense_Mutation	SNP	T	T	G	rs115391450	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:46934625T>G	uc002eel.2	+	4	459	c.365T>G	c.(364-366)CTG>CGG	p.L122R	GPT2_uc002eem.2_Missense_Mutation_p.L22R	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	122					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAACCTGCTGGACAGCCCC	0.627												
ABCC12	94160	broad.mit.edu	37	16	48173146	48173146	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:48173146C>T	uc002efc.1	-	5	1105	c.759G>A	c.(757-759)GCG>GCA	p.A253A	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.A253A|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	253	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				AAAAGGCGTACGCCGCACAAA	0.473												
ABCC11	85320	broad.mit.edu	37	16	48250029	48250029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:48250029A>C	uc002eff.1	-	6	1297	c.947T>G	c.(946-948)CTG>CGG	p.L316R	ABCC11_uc002efg.1_Missense_Mutation_p.L316R|ABCC11_uc002efh.1_Missense_Mutation_p.L316R|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.L316R	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	316	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTACCGCCAGTGGGAAAAC	0.473									Cerumen_Type			
NOD2	64127	broad.mit.edu	37	16	50733415	50733415	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:50733415G>A	uc002egm.1	+	2	195	c.90G>A	c.(88-90)TCG>TCA	p.S30S	NOD2_uc010cbj.1_Silent_p.S3S|NOD2_uc010cbk.1_Silent_p.S3S|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	30	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				AAATGTGCTCGCAGGAGGCTT	0.617												
CHD9	80205	broad.mit.edu	37	16	53358048	53358048	+	Silent	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:53358048A>T	uc002ehb.2	+	38	8099	c.7935A>T	c.(7933-7935)GCA>GCT	p.A2645A	CHD9_uc002egy.2_Silent_p.A2629A|CHD9_uc002ehc.2_Silent_p.A2630A|CHD9_uc002ehf.2_Silent_p.A1743A|CHD9_uc010cbw.2_Silent_p.A711A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2645	Poly-Ala.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CAGCAGCAGCAGCTGCTGCAT	0.512												
LPCAT2	54947	broad.mit.edu	37	16	55562369	55562369	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:55562369A>C	uc002eie.3	+	3	573	c.392A>C	c.(391-393)AAG>ACG	p.K131T		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	131	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						GTAAAAGGAAAGATTGCAAGT	0.373												
SLC6A2	6530	broad.mit.edu	37	16	55705925	55705925	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:55705925A>T	uc002eif.2	+	4	593	c.482A>T	c.(481-483)TAC>TTC	p.Y161F	SLC6A2_uc010ccd.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eig.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eih.2_Missense_Mutation_p.Y161F|SLC6A2_uc002eii.2_Missense_Mutation_p.Y56F	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	161	Extracellular (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)	TGGTCACTCTACTACCTCTTC	0.582												
AMFR	267	broad.mit.edu	37	16	56437005	56437005	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56437005A>G	uc002eiy.2	-	7	1071	c.866T>C	c.(865-867)ATG>ACG	p.M289T	AMFR_uc002eix.2_5'UTR	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	289	Helical; (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						CAGGCTGGCCATGGATAACCA	0.458												
BBS2	583	broad.mit.edu	37	16	56545131	56545131	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56545131A>G	uc002ejd.2	-	3	645	c.411T>C	c.(409-411)ATT>ATC	p.I137I	BBS2_uc010ccg.2_Silent_p.I137I	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	137					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TGCCACCAATAATCGCAAGAG	0.413									Bardet-Biedl_syndrome			
CX3CL1	6376	broad.mit.edu	37	16	57416777	57416777	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57416777G>A	uc002eli.2	+	3	1094	c.1027G>A	c.(1027-1029)GTG>ATG	p.V343M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	343	Helical; (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GAGGCAGGCGGTGGGGCTGCT	0.647												
COQ9	57017	broad.mit.edu	37	16	57486772	57486772	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57486772A>G	uc002elq.2	+	3	318	c.302A>G	c.(301-303)CAC>CGC	p.H101R	COQ9_uc002elp.1_Missense_Mutation_p.H101R|COQ9_uc010vhn.1_Missense_Mutation_p.H101R|COQ9_uc010vho.1_Missense_Mutation_p.H101R|COQ9_uc010vhp.1_Missense_Mutation_p.H101R|COQ9_uc002elr.2_Missense_Mutation_p.H101R	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	101					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CAGTTGCAGCACCGCATCCTG	0.602												
KATNB1	10300	broad.mit.edu	37	16	57778313	57778313	+	Missense_Mutation	SNP	C	C	T	rs139636269		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57778313C>T	uc002eml.1	+	4	553	c.179C>T	c.(178-180)ACG>ATG	p.T60M		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	60	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				CAGAGCCTGACGGGCCACACA	0.637												
KATNB1	10300	broad.mit.edu	37	16	57785608	57785608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:57785608C>T	uc002eml.1	+	7	862	c.488C>T	c.(487-489)GCG>GTG	p.A163V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	163	Interaction with centrosomes.|Interaction with dynein (By similarity).|WD 4.				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				AAGTGGTTGGCGTCGGCCGCA	0.682												
MMP15	4324	broad.mit.edu	37	16	58072273	58072273	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:58072273T>C	uc002ena.2	+	3	1388	c.415T>C	c.(415-417)TGG>CGG	p.W139R		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	139	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						CGGGAGGAAGTGGAACAACCA	0.652												
RRAD	6236	broad.mit.edu	37	16	66957424	66957424	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:66957424A>G	uc002eqn.2	-	4	796	c.644T>C	c.(643-645)GTG>GCG	p.V215A	RRAD_uc002eqo.2_Missense_Mutation_p.V215A	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	215					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CTCACCATCCACCGAGACCTC	0.632												
CES2	8824	broad.mit.edu	37	16	66974153	66974153	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:66974153T>C	uc002eqr.2	+	4	1644	c.644T>C	c.(643-645)CTT>CCT	p.L215P	CES2_uc002eqq.2_Missense_Mutation_p.L215P|CES2_uc002eqs.2_Missense_Mutation_p.L58P	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	151					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGTGGTGCGCTTGTTTTTGGC	0.577												
CBFB	865	broad.mit.edu	37	16	67100670	67100670	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67100670G>A	uc002era.2	+	4	629	c.368G>A	c.(367-369)GGC>GAC	p.G123D	CBFB_uc002erb.2_Missense_Mutation_p.G123D|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	123					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GATGGTATGGGCTGTCTGGAG	0.473			T	MYH11	AML							
E2F4	1874	broad.mit.edu	37	16	67229866	67229866	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67229866C>T	uc002erz.2	+	7	1053	c.990C>T	c.(988-990)AAC>AAT	p.N330N		NM_001950	NP_001941	Q16254	E2F4_HUMAN	E2F transcription factor 4	330					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCGGACCCAACCCTTCTACCT	0.438												
PLEKHG4	25894	broad.mit.edu	37	16	67320812	67320812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67320812G>A	uc002eso.3	+	16	5450	c.2915G>A	c.(2914-2916)CGC>CAC	p.R972H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R779H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R972H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R972H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R972H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R891H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	972	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCCTACAAGCGCTCCTTCAAG	0.622												
ATP6V0D1	9114	broad.mit.edu	37	16	67472482	67472482	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67472482A>G	uc002ete.1	-	8	1105	c.1005T>C	c.(1003-1005)TGT>TGC	p.C335C	ATP6V0D1_uc010vjo.1_Silent_p.C376C|ATP6V0D1_uc010vjn.1_Silent_p.C258C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	335					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCTGGGCGATACATTCAGCGA	0.483												
ATP6V0D1	9114	broad.mit.edu	37	16	67473020	67473020	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67473020T>C	uc002ete.1	-	6	770	c.670A>G	c.(670-672)ACC>GCC	p.T224A	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.T265A|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.T147A	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GAATTGATGGTGATGATGAAG	0.587												
FAM65A	79567	broad.mit.edu	37	16	67576357	67576357	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67576357T>C	uc010vjp.1	+	13	1824	c.1728T>C	c.(1726-1728)ATT>ATC	p.I576I	FAM65A_uc010cei.1_Silent_p.I398I|FAM65A_uc002eth.2_Silent_p.I556I|FAM65A_uc010cej.2_Silent_p.I559I|FAM65A_uc002eti.1_Silent_p.I519I|FAM65A_uc010vjq.1_Silent_p.I570I|FAM65A_uc002etj.1_Silent_p.I555I|FAM65A_uc002etk.2_Silent_p.I555I	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	560	Pro-rich.					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)		ATAGTGCCATTACCACTACCC	0.537												
TSNAXIP1	55815	broad.mit.edu	37	16	67861174	67861174	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67861174C>A	uc002euj.2	+	14	1919	c.1525C>A	c.(1525-1527)CCT>ACT	p.P509T	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.P386T|TSNAXIP1_uc002euf.3_Missense_Mutation_p.P242T|TSNAXIP1_uc010vka.1_Missense_Mutation_p.P563T|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.P494T|TSNAXIP1_uc002eug.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002euh.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002eui.3_Missense_Mutation_p.P217T|TSNAXIP1_uc002euk.2_Missense_Mutation_p.P242T	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	509					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GAGTACCTTCCCTCTCAAGAC	0.557												
EDC4	23644	broad.mit.edu	37	16	67914024	67914024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67914024A>G	uc002eur.2	+	17	2168	c.2002A>G	c.(2002-2004)AGC>GGC	p.S668G	EDC4_uc010cer.2_Missense_Mutation_p.S287G|EDC4_uc010vkg.1_Missense_Mutation_p.S600G|EDC4_uc002eus.2_Missense_Mutation_p.S398G|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	668	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCTGACAATGAGCAGCAGTGG	0.662												
PSKH1	5681	broad.mit.edu	37	16	67942930	67942930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67942930G>A	uc002euv.2	+	2	448	c.278G>A	c.(277-279)CGT>CAT	p.R93H	PSKH1_uc010cet.2_Missense_Mutation_p.R93H	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	93						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TTTGACCCACGTGTTACAGCT	0.622												
DUS2L	54920	broad.mit.edu	37	16	68100478	68100478	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68100478A>G	uc002evi.2	+	10	642	c.493A>G	c.(493-495)ACC>GCC	p.T165A	DUS2L_uc002evj.2_Missense_Mutation_p.T165A|DUS2L_uc010vkk.1_Missense_Mutation_p.T130A|DUS2L_uc010cez.2_Missense_Mutation_p.T78A	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	165					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GCTAGAAGATACCCTGAGCCT	0.552												
SLC7A6OS	84138	broad.mit.edu	37	16	68337993	68337993	+	Missense_Mutation	SNP	G	G	A	rs139184366		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68337993G>A	uc002evw.1	-	3	633	c.614C>T	c.(613-615)ACG>ATG	p.T205M		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	205					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TGGAGTGGCCGTCTCCAAGTA	0.542												
CDH1	999	broad.mit.edu	37	16	68835685	68835685	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:68835685T>C	uc002ewg.1	+	3	400	c.276T>C	c.(274-276)CAT>CAC	p.H92H	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.H92H	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	92					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.H92Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TACGGTTTCATAACCCACAGA	0.517			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
NFAT5	10725	broad.mit.edu	37	16	69687169	69687169	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:69687169A>G	uc002exm.1	+	4	1997	c.789A>G	c.(787-789)GTA>GTG	p.V263V	NFAT5_uc002exh.1_Silent_p.V57V|NFAT5_uc002exi.2_Silent_p.V187V|NFAT5_uc002exj.1_Silent_p.V187V|NFAT5_uc002exk.1_Silent_p.V187V|NFAT5_uc002exl.1_Silent_p.V281V|NFAT5_uc002exn.1_Silent_p.V281V	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	263					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GAACTGGAGTAAAGAAGAGCC	0.383												
NFAT5	10725	broad.mit.edu	37	16	69725814	69725814	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:69725814A>G	uc002exm.1	+	12	3240	c.2032A>G	c.(2032-2034)ATT>GTT	p.I678V	NFAT5_uc002exi.2_Missense_Mutation_p.I602V|NFAT5_uc002exj.1_Missense_Mutation_p.I602V|NFAT5_uc002exk.1_Missense_Mutation_p.I602V|NFAT5_uc002exl.1_Missense_Mutation_p.I696V|NFAT5_uc002exn.1_Missense_Mutation_p.I695V|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	678					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGACAACTATTCAAACCCA	0.478												
AARS	16	broad.mit.edu	37	16	70292118	70292118	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70292118G>T	uc002eyn.1	-	15	2105	c.1995C>A	c.(1993-1995)GCC>GCA	p.A665A	AARS_uc010vlu.1_Silent_p.A495A	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	665					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGTATAGACGGCCTGCCAGA	0.592												
DDX19B	11269	broad.mit.edu	37	16	70359507	70359507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70359507G>A	uc002eyo.2	+	7	652	c.523G>A	c.(523-525)GCC>ACC	p.A175T	DDX19B_uc010vly.1_Missense_Mutation_p.A175T|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.A149T|DDX19B_uc010vlw.1_Missense_Mutation_p.A66T|DDX19B_uc002eyp.2_Missense_Mutation_p.A144T|DDX19B_uc002eyq.2_Missense_Mutation_p.A66T|DDX19B_uc002eyr.2_Missense_Mutation_p.A24T|DDX19B_uc010vlx.1_Missense_Mutation_p.A24T|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	175	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				GTATGAGCTCGCCCTCCAAAC	0.413												
ST3GAL2	6483	broad.mit.edu	37	16	70422372	70422372	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70422372C>A	uc002eyw.2	-	3	2719	c.611G>T	c.(610-612)AGT>ATT	p.S204I	ST3GAL2_uc002eyx.2_Missense_Mutation_p.S204I	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	204	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GTTCTTGGCACTCTCAGGGTA	0.597												
ZNF23	7571	broad.mit.edu	37	16	71487993	71487993	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:71487993G>T	uc002faf.2	-	4	800	c.-14C>A	c.(-16--12)CCCTG>CCATG		ZNF23_uc002fad.2_5'Flank|ZNF23_uc002fae.2_Translation_Start_Site|ZNF23_uc010vmf.1_Intron|ZNF23_uc002fag.2_Translation_Start_Site|ZNF23_uc002fah.2_Translation_Start_Site|ZNF23_uc002fai.2_Missense_Mutation_p.L34M	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCCCTGTACAGGGTCCTCTGT	0.557												
TXNL4B	54957	broad.mit.edu	37	16	72122889	72122889	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:72122889T>C	uc002fca.2	-	3	592	c.281A>G	c.(280-282)TAT>TGT	p.Y94C	TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.Y94C|TXNL4B_uc010vmo.1_Missense_Mutation_p.Y94C	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	94					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1						CACTTACCCATAATCCACTTT	0.383												
PSMD7	5713	broad.mit.edu	37	16	74330861	74330861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:74330861C>T	uc002fcq.2	+	1	181	c.49C>T	c.(49-51)CTC>TTC	p.L17F	PSMD7_uc010vmr.1_5'UTR	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	17	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0						CCTGGTGCTGCTCAGTGTGGT	0.692												
FA2H	79152	broad.mit.edu	37	16	74753037	74753037	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:74753037T>A	uc002fde.1	-	5	703	c.635A>T	c.(634-636)AAG>ATG	p.K212M	FA2H_uc002fdd.1_5'Flank|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	212					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						GAACATGGACTTGGGCACTGC	0.622												
ZNRF1	84937	broad.mit.edu	37	16	75140387	75140387	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:75140387G>A	uc002fdk.2	+	4	1289	c.634G>A	c.(634-636)GAC>AAC	p.D212N	ZNRF1_uc002fdl.1_Missense_Mutation_p.D212N|ZNRF1_uc010cgr.1_Missense_Mutation_p.D263N	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	zinc and ring finger protein 1	212	RING-type; atypical.					cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding				0						CAGCTGCATAGACTCGTGGTT	0.597												
CNTNAP4	85445	broad.mit.edu	37	16	76481946	76481946	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:76481946T>C	uc002feu.1	+	7	961	c.576T>C	c.(574-576)CTT>CTC	p.L192L	CNTNAP4_uc002fev.1_Silent_p.L104L|CNTNAP4_uc010chb.1_Silent_p.L167L|CNTNAP4_uc002fex.1_Silent_p.L195L|CNTNAP4_uc002few.2_Silent_p.L167L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	192	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AAAGTTCCCTTCTCTACAGAT	0.343												
CNTNAP4	85445	broad.mit.edu	37	16	76573730	76573730	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:76573730A>C	uc002feu.1	+	22	3720	c.3335A>C	c.(3334-3336)GAA>GCA	p.E1112A	CNTNAP4_uc002fev.1_Missense_Mutation_p.E976A|CNTNAP4_uc010chb.1_Missense_Mutation_p.E1039A|CNTNAP4_uc002fex.1_Missense_Mutation_p.E1115A	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1112	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						AACAGAGAAGAAGGAGTGGTC	0.333												
MAF	4094	broad.mit.edu	37	16	79632969	79632969	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:79632969C>T	uc002ffn.2	-	1	1654	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	MAF_uc002ffm.2_Silent_p.Q277Q	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	277	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CCCCGCGCAGCTGCCGGTTCA	0.672			T	IGH@	MM							
MAF	4094	broad.mit.edu	37	16	79633642	79633642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:79633642C>T	uc002ffn.2	-	1	981	c.158G>A	c.(157-159)GGC>GAC	p.G53D	MAF_uc002ffm.2_Missense_Mutation_p.G53D	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	53					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGACAGCGAGCCCCCGGCGAT	0.632			T	IGH@	MM							
ATMIN	23300	broad.mit.edu	37	16	81078385	81078385	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81078385A>G	uc002ffz.1	+	4	2300	c.2282A>G	c.(2281-2283)AAC>AGC	p.N761S	ATMIN_uc002fga.2_Missense_Mutation_p.N603S|ATMIN_uc010vnn.1_Missense_Mutation_p.N532S|ATMIN_uc002fgb.1_Missense_Mutation_p.N603S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	761					response to DNA damage stimulus	nucleus	zinc ion binding				0						GTTCAGTTGAACAGTACAGAA	0.443												
PKD1L2	114780	broad.mit.edu	37	16	81190510	81190510	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81190510A>G	uc002fgh.1	-	24	4079	c.4079T>C	c.(4078-4080)CTG>CCG	p.L1360P	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1360	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GATCACCACCAGCACGTAGAC	0.577												
PKD1L2	114780	broad.mit.edu	37	16	81209311	81209311	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81209311A>G	uc002fgh.1	-	15	2482	c.2482T>C	c.(2482-2484)TAT>CAT	p.Y828H	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.Y143H|PKD1L2_uc002fgj.2_Missense_Mutation_p.Y828H|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Missense_Mutation_p.Y84H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	828	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTGGCAGATACACTGATGGG	0.547												
BCMO1	53630	broad.mit.edu	37	16	81293316	81293316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:81293316G>A	uc002fgn.1	+	3	447	c.229G>A	c.(229-231)GAT>AAT	p.D77N	BCMO1_uc002fgm.1_Missense_Mutation_p.D77N|BCMO1_uc010vnp.1_Intron	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	77					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						CCTGAGAAGCGATACCTACAA	0.438												
TAF1C	9013	broad.mit.edu	37	16	84218572	84218572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84218572C>T	uc002fhn.2	-	2	251	c.23G>A	c.(22-24)CGC>CAC	p.R8H	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Missense_Mutation_p.R8H|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Missense_Mutation_p.R8H	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	8					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CAATGCAGGGCGGAGGGAGCT	0.617												
ADAD2	161931	broad.mit.edu	37	16	84224941	84224941	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84224941A>G	uc002fhr.2	+	1	219	c.105A>G	c.(103-105)CTA>CTG	p.L35L	ADAD2_uc002fhq.2_Silent_p.L35L	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	35					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						GGCGACCGCTACCCGCCCAGG	0.622												
KLHL36	79786	broad.mit.edu	37	16	84695605	84695605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84695605G>A	uc002fig.2	+	5	1858	c.1717G>A	c.(1717-1719)GAC>AAC	p.D573N	KLHL36_uc010chl.2_Missense_Mutation_p.D509N|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	573	Kelch 6.									skin(2)	2						CCGCGAGGCCGACAAGTGGAG	0.662												
USP10	9100	broad.mit.edu	37	16	84778357	84778357	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:84778357T>C	uc002fii.2	+	4	412	c.270T>C	c.(268-270)TTT>TTC	p.F90F	USP10_uc010voe.1_Silent_p.F94F|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	90	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CCCCTGAATTTATTCTCGGTT	0.493												
KIAA0182	23199	broad.mit.edu	37	16	85696670	85696670	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85696670C>T	uc002fix.2	+	10	2418	c.2344C>T	c.(2344-2346)CCG>TCG	p.P782S	KIAA0182_uc002fiw.2_Missense_Mutation_p.P678S|KIAA0182_uc002fiy.2_Missense_Mutation_p.P709S|KIAA0182_uc002fiz.2_5'UTR|KIAA0182_uc010cho.2_5'Flank	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	782							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						GGCCGAGCAGCCGCCCCTCAA	0.612												
KIAA0182	23199	broad.mit.edu	37	16	85701751	85701751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85701751G>A	uc002fix.2	+	14	3210	c.3136G>A	c.(3136-3138)GTG>ATG	p.V1046M	KIAA0182_uc002fiw.2_Missense_Mutation_p.V942M|KIAA0182_uc002fiy.2_Missense_Mutation_p.V973M|KIAA0182_uc002fiz.2_Missense_Mutation_p.V188M|KIAA0182_uc010cho.2_Missense_Mutation_p.V226M	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1046							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CACAGGGAGCGTGGCTGTGCT	0.617												
FOXL1	2300	broad.mit.edu	37	16	86612389	86612389	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:86612389G>A	uc002fjr.2	+	1	275	c.60G>A	c.(58-60)CTG>CTA	p.L20L		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	20					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						TGCTGTATCTGTACGGTCCCG	0.706												
JPH3	57338	broad.mit.edu	37	16	87723329	87723329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:87723329C>T	uc002fkd.2	+	4	1617	c.1363C>T	c.(1363-1365)CAG>TAG	p.Q455*	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	455	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCCCTGCAGCAGGAGAGCCC	0.607												
BANP	54971	broad.mit.edu	37	16	88066729	88066729	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:88066729A>G	uc002fkr.2	+	9	1275	c.1051A>G	c.(1051-1053)ACC>GCC	p.T351A	BANP_uc002fkp.2_Missense_Mutation_p.T321A|BANP_uc002fkq.2_Missense_Mutation_p.T321A|BANP_uc010vow.1_Missense_Mutation_p.T359A|BANP_uc002fks.3_Missense_Mutation_p.T320A|BANP_uc002fko.1_Missense_Mutation_p.T257A|BANP_uc010vov.1_Missense_Mutation_p.T326A	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	352	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGATGAGCACCCCACCTCC	0.652												
ZNF778	197320	broad.mit.edu	37	16	89293827	89293827	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89293827T>C	uc002fmv.2	+	6	1386	c.1047T>C	c.(1045-1047)TTT>TTC	p.F349F	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.F307F|ZNF778_uc010vpg.1_Silent_p.F112F	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	349	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GCGGTGGGTTTTATCTACTGA	0.448												
ANKRD11	29123	broad.mit.edu	37	16	89347285	89347285	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89347285T>C	uc002fmx.1	-	9	6126	c.5665A>G	c.(5665-5667)AAA>GAA	p.K1889E	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1889E|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1889E|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.K1846E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1889	Pro-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)		GGGGAAGGTTTTGCTTGTAAA	0.652												
FANCA	2175	broad.mit.edu	37	16	89809286	89809286	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:89809286T>C	uc002fou.1	-	37	3729	c.3687A>G	c.(3685-3687)GCA>GCG	p.A1229A	FANCA_uc010vpn.1_Silent_p.A1229A|FANCA_uc010vpo.1_Silent_p.A315A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1229					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAAAGTGCAGTGCAGCAGCTG	0.537			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
GEMIN4	50628	broad.mit.edu	37	17	650110	650110	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:650110G>A	uc002frs.1	-	2	1292	c.1173C>T	c.(1171-1173)AGC>AGT	p.S391S	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	391					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGCACCGTGCTCGTTTTCC	0.567												
MYO1C	4641	broad.mit.edu	37	17	1386228	1386228	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:1386228G>A	uc002fsp.2	-	4	693	c.473C>T	c.(472-474)GCA>GTA	p.A158V	MYO1C_uc002fsn.2_Missense_Mutation_p.A139V|MYO1C_uc002fso.2_Missense_Mutation_p.A123V|MYO1C_uc010vqj.1_Missense_Mutation_p.A123V|MYO1C_uc010vqk.1_Missense_Mutation_p.A134V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	158	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGGTCTCTGCATAGAACTG	0.682												
SERPINF2	5345	broad.mit.edu	37	17	1650779	1650779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:1650779C>T	uc002ftk.1	+	7	765	c.688C>T	c.(688-690)CTT>TTT	p.L230F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L166F	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	230					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CACCGTGTTGCTTCTCCTCAA	0.557												
METT10D	79066	broad.mit.edu	37	17	2324091	2324091	+	Silent	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2324091G>C	uc002fut.2	-	9	1144	c.996C>G	c.(994-996)CGC>CGG	p.R332R	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R114R	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	332							methyltransferase activity				0						CCGTCTCCGAGCGCAGAGGTG	0.448												
KIAA0664	23277	broad.mit.edu	37	17	2595724	2595724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2595724C>T	uc002fuy.1	-	22	3460	c.3374G>A	c.(3373-3375)CGC>CAC	p.R1125H	KIAA0664_uc002fux.1_Missense_Mutation_p.R1058H|KIAA0664_uc010ckc.1_Missense_Mutation_p.R111H	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1125	TPR 3.						binding			breast(2)	2						CTCCAGGAAGCGCAGCGACAG	0.697												
KIAA0664	23277	broad.mit.edu	37	17	2606624	2606624	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:2606624G>A	uc002fuy.1	-	3	435	c.349C>T	c.(349-351)CGT>TGT	p.R117C	KIAA0664_uc002fux.1_Missense_Mutation_p.R49C	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	117							binding			breast(2)	2						TCCACCACACGCAGCACAGAG	0.657												
P2RX5	5026	broad.mit.edu	37	17	3594321	3594321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3594321C>T	uc002fwi.2	-	3	573	c.289G>A	c.(289-291)GGA>AGA	p.G97R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.G97R|P2RX5_uc010vrx.1_Intron|P2RX5_uc002fwj.2_Intron|P2RX5_uc002fwk.2_Missense_Mutation_p.G97R|P2RX5_uc002fwl.2_Intron|P2RX5_uc002fwm.1_Missense_Mutation_p.G97R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	97	Extracellular (Potential).			GE -> EK (in Ref. 1; AAB08576).	nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						ACGTTCTCTCCCTAAGGAACC	0.592												
C17orf85	55421	broad.mit.edu	37	17	3721814	3721814	+	Silent	SNP	C	C	T	rs143045118		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3721814C>T	uc010ckl.1	-	10	1076	c.1053G>A	c.(1051-1053)GAG>GAA	p.E351E	C17orf85_uc002fwr.2_Silent_p.E61E|C17orf85_uc002fwq.2_Silent_p.E71E	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	351	Glu-rich.						nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		cctcttcctcctcctcctcct	0.368												
CAMKK1	84254	broad.mit.edu	37	17	3776731	3776731	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3776731A>G	uc002fwt.2	-	11	1116	c.1022T>C	c.(1021-1023)GTC>GCC	p.V341A	CAMKK1_uc002fwu.2_Missense_Mutation_p.V341A|CAMKK1_uc002fwv.2_Missense_Mutation_p.V379A	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	341	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTACAACGTGACGCCAGTGGC	0.627												
ATP2A3	489	broad.mit.edu	37	17	3844275	3844275	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:3844275A>G	uc002fxb.1	-	14	2241	c.2090T>C	c.(2089-2091)ATC>ACC	p.I697T	ATP2A3_uc002fwx.1_Missense_Mutation_p.I697T|ATP2A3_uc002fwy.1_Missense_Mutation_p.I697T|ATP2A3_uc002fwz.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxa.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxc.1_Missense_Mutation_p.I697T|ATP2A3_uc002fxd.1_Missense_Mutation_p.I697T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	697	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CATAGCAGTGATCTCGTTAAA	0.657												
ANKFY1	51479	broad.mit.edu	37	17	4080582	4080582	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4080582G>A	uc002fxq.1	-	19	2652	c.2614C>T	c.(2614-2616)CGG>TGG	p.R872W	ANKFY1_uc002fxn.2_Missense_Mutation_p.R914W|ANKFY1_uc002fxo.2_Missense_Mutation_p.R873W|ANKFY1_uc002fxp.2_Missense_Mutation_p.R871W|ANKFY1_uc010ckp.2_Missense_Mutation_p.R814W	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	872	ANK 16.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						AGGAAATTCCGGCCCTTGTTA	0.458												
MYBBP1A	10514	broad.mit.edu	37	17	4448930	4448930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4448930G>A	uc002fyb.3	-	15	2110	c.2048C>T	c.(2047-2049)CCG>CTG	p.P683L	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P683L|MYBBP1A_uc010vsa.1_5'Flank	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	683					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						CAGGGCACGCGGGGTCAGGTG	0.647												
CXCL16	58191	broad.mit.edu	37	17	4638556	4638556	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4638556A>G	uc002fyr.3	-	4	1138	c.606T>C	c.(604-606)CCT>CCC	p.P202P	CXCL16_uc002fyq.3_Silent_p.P44P|CXCL16_uc002fys.3_Silent_p.P202P	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	183	Extracellular (Potential).				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						CCCCAGCCTCAGGCCCAGCTG	0.592												
CXCL16	58191	broad.mit.edu	37	17	4638666	4638666	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4638666A>G	uc002fyr.3	-	4	1028	c.496T>C	c.(496-498)TCC>CCC	p.S166P	CXCL16_uc002fyq.3_Missense_Mutation_p.S8P|CXCL16_uc002fys.3_Missense_Mutation_p.S166P	NM_022059	NP_071342	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	147	Extracellular (Potential).				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity				0						CGCTGAGTGGACTGCAAGGTG	0.577												
PLD2	5338	broad.mit.edu	37	17	4712400	4712400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4712400C>T	uc002fzc.2	+	5	490	c.389C>T	c.(388-390)GCC>GTC	p.A130V	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.A130V	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	130	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	CACAGATTTGCCGTTGCCTAT	0.567												
CHRNE	1145	broad.mit.edu	37	17	4802167	4802167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4802167C>T	uc002fzk.1	-	12	1357	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H	C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	449	Cytoplasmic (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTCCCCATGCGCACCCAGTC	0.627												
SPAG7	9552	broad.mit.edu	37	17	4863086	4863086	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4863086G>A	uc002gae.2	-	6	576	c.543C>T	c.(541-543)CAC>CAT	p.H181H	SPAG7_uc002gad.2_Silent_p.H130H|SPAG7_uc002gaf.2_Silent_p.H181H	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	181						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						CCTGTAGCATGTGGGCTGCGT	0.642												
CAMTA2	23125	broad.mit.edu	37	17	4873216	4873216	+	Missense_Mutation	SNP	G	G	A	rs150374823		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4873216G>A	uc002gah.1	-	18	3278	c.3170C>T	c.(3169-3171)ACG>ATG	p.T1057M	SPAG7_uc002gad.2_5'Flank|SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.T1080M|CAMTA2_uc002gag.1_Missense_Mutation_p.T1056M|CAMTA2_uc002gai.1_Missense_Mutation_p.T1059M	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1057	IQ 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						TCGGAAGGCCGTCTGGATGAC	0.547												
PITPNM3	83394	broad.mit.edu	37	17	6387608	6387608	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:6387608T>C	uc002gdd.3	-	5	430	c.279A>G	c.(277-279)GAA>GAG	p.E93E	PITPNM3_uc010cln.2_Silent_p.E57E|PITPNM3_uc002gdc.3_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	93					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)		CCCGGTACAGTTCTCCTGCAG	0.602												
SLC13A5	284111	broad.mit.edu	37	17	6604366	6604366	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:6604366G>A	uc002gdj.2	-	6	884	c.796C>T	c.(796-798)CTG>TTG	p.L266L	SLC13A5_uc010vtf.1_Silent_p.L266L|SLC13A5_uc010clq.2_Silent_p.L223L|SLC13A5_uc002gdk.2_Silent_p.L249L|SLC13A5_uc002gdl.1_Silent_p.L248L	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	266	Helical; (Potential).					integral to membrane	citrate transmembrane transporter activity				0						CAGGCGAACAGCAGCATCACC	0.483												
EIF5A	1984	broad.mit.edu	37	17	7214674	7214674	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7214674T>C	uc010vtv.1	+	4	513	c.276T>C	c.(274-276)ATT>ATC	p.I92I	EIF5A_uc002gfr.2_Silent_p.I122I|EIF5A_uc002gft.2_Silent_p.I92I|EIF5A_uc002gfu.2_Silent_p.I92I	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	92					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						CCCAGCTGATTGGCATCCAGG	0.552												
KCTD11	147040	broad.mit.edu	37	17	7256323	7256323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7256323G>A	uc002gge.3	+	1	1116	c.62G>A	c.(61-63)GGC>GAC	p.G21D	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	21	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				TCCCAAGGAGGCGGCCACTAC	0.632												
NLGN2	57555	broad.mit.edu	37	17	7318418	7318418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7318418C>T	uc002ggt.1	+	5	1061	c.988C>T	c.(988-990)CGC>TGC	p.R330C		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	330	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				GGAGTGTCTGCGCCGGAAGCC	0.657												
ZBTB4	57659	broad.mit.edu	37	17	7365936	7365936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7365936C>T	uc002ghc.3	-	4	2615	c.2365G>A	c.(2365-2367)GCT>ACT	p.A789T	ZBTB4_uc002ghd.3_Missense_Mutation_p.A789T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	789					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)		GGCCGCTCAGCAGCATGCCTC	0.697												
AMAC1L3	643664	broad.mit.edu	37	17	7385573	7385573	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7385573T>C	uc010cmj.1	+	2	385	c.270T>C	c.(268-270)CGT>CGC	p.R90R	ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	90	DUF6 1.					integral to membrane					0		Prostate(122;0.173)				TTAAACTGCGTGGCGACCCCC	0.577												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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)		
TP53	7157	broad.mit.edu	37	17	7578427	7578427	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7578427T>C	uc002gim.2	-	5	697	c.503A>G	c.(502-504)CAC>CGC	p.H168R	TP53_uc002gig.1_Missense_Mutation_p.H168R|TP53_uc002gih.2_Missense_Mutation_p.H168R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H36R|TP53_uc010cng.1_Missense_Mutation_p.H36R|TP53_uc002gii.1_Missense_Mutation_p.H36R|TP53_uc010cnh.1_Missense_Mutation_p.H168R|TP53_uc010cni.1_Missense_Mutation_p.H168R|TP53_uc002gij.2_Missense_Mutation_p.H168R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H75R|TP53_uc002gio.2_Missense_Mutation_p.H36R|TP53_uc010vug.1_Missense_Mutation_p.H129R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	168	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		QH -> HD (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> D (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.H168R(12)|p.H168P(9)|p.H168Y(9)|p.0?(7)|p.H168L(5)|p.H168H(4)|p.H168fs*2(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.H168fs*5(1)|p.H168Q(1)|p.H168fs*69(1)|p.Q167fs*12(1)|p.H168D(1)|p.Q167_H168>HD(1)|p.H168N(1)|p.Q167_H168>YL(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(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)		CTCCGTCATGTGCTGTGACTG	0.652		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)		
CYB5D1	124637	broad.mit.edu	37	17	7761604	7761604	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7761604A>G	uc002gjb.3	+	1	541	c.152A>G	c.(151-153)GAA>GGA	p.E51G	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.E51G	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	51	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TTGGCACAGGAATACAAGGGT	0.607											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ALOXE3	59344	broad.mit.edu	37	17	8013711	8013711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8013711C>T	uc010cnr.2	-	9	1463	c.1093G>A	c.(1093-1095)GCC>ACC	p.A365T	ALOXE3_uc002gka.2_Missense_Mutation_p.A521T|ALOXE3_uc010vuo.1_Missense_Mutation_p.A497T|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	365	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						ACCTGGATGGCCAAGGGCACC	0.627											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PER1	5187	broad.mit.edu	37	17	8049980	8049980	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8049980C>T	uc002gkd.2	-	15	2077	c.1839G>A	c.(1837-1839)GAG>GAA	p.E613E	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.E597E	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	613	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TCTCGGCCTCCTCAGGGACCA	0.632			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
AURKB	9212	broad.mit.edu	37	17	8108325	8108325	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8108325G>A	uc002gkm.2	-	9	960	c.899C>T	c.(898-900)GCC>GTC	p.A300V	AURKB_uc010cnu.2_Missense_Mutation_p.A120V|AURKB_uc002gkn.2_Missense_Mutation_p.A301V|AURKB_uc010vuu.1_Missense_Mutation_p.A259V|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	300	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						GAGGTCCTGGGCTCCCATGGG	0.602												
C17orf68	80169	broad.mit.edu	37	17	8138088	8138088	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8138088T>C	uc002gkq.3	-	9	1655	c.1596A>G	c.(1594-1596)CCA>CCG	p.P532P	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	532					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						GACAGTGATGTGGCTCTTCAA	0.582												
NTN1	9423	broad.mit.edu	37	17	8926216	8926216	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:8926216T>C	uc002glw.3	+	2	633	c.526T>C	c.(526-528)TTC>CTC	p.F176L		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	176	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GCCCTTCCAGTTCTACTCCAC	0.642												
WDR16	146845	broad.mit.edu	37	17	9489252	9489252	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:9489252A>G	uc002gly.2	+	2	302	c.233A>G	c.(232-234)TAC>TGC	p.Y78C	WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.Y88C	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	78	WD 1.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						TCTGGAGAGTACATCGCCTCC	0.478												
MYH4	4622	broad.mit.edu	37	17	10366715	10366715	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:10366715T>C	uc002gmn.2	-	9	856	c.745A>G	c.(745-747)AAA>GAA	p.K249E	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	249	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTGATGAATTTACCCTTAAAA	0.323												
DNAH9	1770	broad.mit.edu	37	17	11656204	11656204	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:11656204A>G	uc002gne.2	+	33	6733	c.6665A>G	c.(6664-6666)AAG>AGG	p.K2222R	DNAH9_uc010coo.2_Missense_Mutation_p.K1516R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2222	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATGGGCCCAAGTGGATTTTA	0.428												
ELAC2	60528	broad.mit.edu	37	17	12909071	12909071	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:12909071T>C	uc002gnz.3	-	10	964	c.869A>G	c.(868-870)GAG>GGG	p.E290G	ELAC2_uc002gnv.3_5'Flank|ELAC2_uc002gnw.3_5'Flank|ELAC2_uc002gnx.3_Missense_Mutation_p.E50G|ELAC2_uc010vvo.1_Missense_Mutation_p.E113G|ELAC2_uc010vvp.1_Missense_Mutation_p.E271G|ELAC2_uc010vvq.1_Missense_Mutation_p.E290G|ELAC2_uc010vvr.1_Missense_Mutation_p.E250G	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	290					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						GCATCTCACCTCTCTTCCTTC	0.502									Hereditary_Prostate_Cancer			
TRPV2	51393	broad.mit.edu	37	17	16338211	16338211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:16338211G>A	uc002gpy.2	+	14	2489	c.2122G>A	c.(2122-2124)GAG>AAG	p.E708K	TRPV2_uc002gpz.2_Missense_Mutation_p.E278K	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	708	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGGTGGAGGAGGTGAACTG	0.637												
ZNF287	57336	broad.mit.edu	37	17	16455634	16455634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:16455634T>C	uc002gqi.2	-	6	2275	c.1822A>G	c.(1822-1824)ACT>GCT	p.T608A		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	601	C2H2-type 9.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGATGTTGAGTAAGATTTGCA	0.408												
RAI1	10743	broad.mit.edu	37	17	17698099	17698099	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17698099G>T	uc002grm.2	+	3	2306	c.1837G>T	c.(1837-1839)GGG>TGG	p.G613W	RAI1_uc002grn.1_Missense_Mutation_p.G613W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	613						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGAGATCCTGGGGCTGCAGGA	0.652												
RAI1	10743	broad.mit.edu	37	17	17700169	17700169	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17700169A>T	uc002grm.2	+	3	4376	c.3907A>T	c.(3907-3909)AAG>TAG	p.K1303*	RAI1_uc002grn.1_Nonsense_Mutation_p.K1303*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1303						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCTGCCTCAAGCTCGCCTC	0.637												
RAI1	10743	broad.mit.edu	37	17	17700292	17700292	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17700292T>A	uc002grm.2	+	3	4499	c.4030T>A	c.(4030-4032)TTC>ATC	p.F1344I	RAI1_uc002grn.1_Missense_Mutation_p.F1344I	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1344						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCAAGAAGTTCGCATGTAA	0.637												
EPN2	22905	broad.mit.edu	37	17	19186549	19186549	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19186549G>A	uc002gvd.3	+	3	565	c.117G>A	c.(115-117)CTG>CTA	p.L39L	EPN2_uc002gvc.2_Silent_p.L39L|EPN2_uc010vyn.1_Silent_p.L39L|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Silent_p.L39L|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Silent_p.L39L|EPN2_uc010vyp.1_Silent_p.L39L|EPN2_uc010vyq.1_Silent_p.L39L|EPN2_uc002gvh.1_Silent_p.L39L	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	39	ENTH.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGTTCTCTGATGACCGAGA	0.547												
MAPK7	5598	broad.mit.edu	37	17	19284780	19284780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19284780C>T	uc002gvn.2	+	4	1644	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S	MAPK7_uc002gvo.2_Missense_Mutation_p.P281S|MAPK7_uc002gvq.2_Missense_Mutation_p.P420S|MAPK7_uc002gvp.2_Missense_Mutation_p.P420S	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	420	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGTTGAAATGCCCAGTCCCTG	0.622												
ALDH3A2	224	broad.mit.edu	37	17	19555013	19555013	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19555013G>T	uc002gwb.1	+	2	528	c.307G>T	c.(307-309)GGA>TGA	p.G103*	ALDH3A2_uc002gwa.1_Nonsense_Mutation_p.G103*|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Nonsense_Mutation_p.G103*	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	103	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ACAGCCTCTGGGAGTGGTGCT	0.488												
ALDH3A2	224	broad.mit.edu	37	17	19559709	19559709	+	Missense_Mutation	SNP	G	G	A	rs75565573		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:19559709G>A	uc002gwb.1	+	4	723	c.502G>A	c.(502-504)GAG>AAG	p.E168K	ALDH3A2_uc002gwa.1_Missense_Mutation_p.E168K|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.E168K|ALDH3A2_uc002gwd.1_5'UTR	NM_000382	NP_000373	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 2	168	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TGGTGGTGTTGAGGAAACCAC	0.423												
CCDC144NL	339184	broad.mit.edu	37	17	20799282	20799282	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:20799282G>C	uc002gyf.2	-	1	172	c.52C>G	c.(52-54)CCG>GCG	p.P18A	uc002gyg.1_Intron|uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family,	18											0						TAGACTGCCGGCTTCGGAGAC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP22	23326	broad.mit.edu	37	17	20921306	20921306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:20921306C>T	uc002gym.3	-	5	843	c.639G>A	c.(637-639)ATG>ATA	p.M213I	USP22_uc002gyn.3_Missense_Mutation_p.M201I|USP22_uc002gyl.3_Missense_Mutation_p.M108I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	213					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						TGGGGCTCTGCATCTCACAGC	0.542												
KSR1	8844	broad.mit.edu	37	17	25919448	25919448	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:25919448C>T	uc010crg.2	+	8	1226	c.781C>T	c.(781-783)CTA>TTA	p.L261L	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.L62L	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	396					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTTCCTGCCACGTGAGTTTTC	0.473												
KIAA0100	9703	broad.mit.edu	37	17	26960389	26960389	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26960389A>C	uc002hbu.2	-	19	3595	c.3496T>G	c.(3496-3498)TGG>GGG	p.W1166G		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1166						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTCCACTCCCAGTGCATATTT	0.458												
KIAA0100	9703	broad.mit.edu	37	17	26964956	26964956	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26964956C>T	uc002hbu.2	-	14	1768	c.1669G>A	c.(1669-1671)GCT>ACT	p.A557T		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	557						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CTAGAGACAGCTGACTTCCCA	0.473												
ERAL1	26284	broad.mit.edu	37	17	27185617	27185617	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27185617A>G	uc002hcy.1	+	7	745	c.735A>G	c.(733-735)TCA>TCG	p.S245S	ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.S52S|ERAL1_uc002hdb.1_Silent_p.S128S	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	245					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			AGCAGAAGTCAGTTCTCCTGG	0.557												
PIPOX	51268	broad.mit.edu	37	17	27380576	27380576	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27380576A>G	uc002hdr.1	+	4	949	c.623A>G	c.(622-624)CAG>CGG	p.Q208R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	208					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGACCAACCAGCTCCTCCGT	0.493												
MYO18A	399687	broad.mit.edu	37	17	27420384	27420384	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27420384T>G	uc002hdt.1	-	32	5041	c.4883A>C	c.(4882-4884)GAG>GCG	p.E1628A	MYO18A_uc010wbc.1_Missense_Mutation_p.E1161A|MYO18A_uc002hds.2_Missense_Mutation_p.E1170A|MYO18A_uc010csa.1_Missense_Mutation_p.E1591A|MYO18A_uc002hdu.1_Missense_Mutation_p.E1628A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1628	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCCGCTTCTCTCGCAGAAC	0.612												
MYO18A	399687	broad.mit.edu	37	17	27437032	27437032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27437032G>A	uc002hdt.1	-	19	3333	c.3175C>T	c.(3175-3177)CGT>TGT	p.R1059C	MYO18A_uc010wbc.1_Missense_Mutation_p.R601C|MYO18A_uc002hds.2_Missense_Mutation_p.R601C|MYO18A_uc010csa.1_Missense_Mutation_p.R1059C|MYO18A_uc002hdu.1_Missense_Mutation_p.R1059C|MYO18A_uc010wbd.1_Missense_Mutation_p.R728C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1059	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGGCGGAACGGGGCTCCCCA	0.652												
MYO18A	399687	broad.mit.edu	37	17	27447649	27447649	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27447649G>A	uc002hdt.1	-	7	1871	c.1713C>T	c.(1711-1713)GCC>GCT	p.A571A	MYO18A_uc010wbc.1_Silent_p.A113A|MYO18A_uc002hds.2_Silent_p.A113A|MYO18A_uc010csa.1_Silent_p.A571A|MYO18A_uc002hdu.1_Silent_p.A571A|MYO18A_uc010wbd.1_Silent_p.A240A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	571	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGAGGCTGAGGCCACCTGGC	0.572												
TAOK1	57551	broad.mit.edu	37	17	27838012	27838012	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27838012T>C	uc002hdz.1	+	15	1898	c.1704_splice	c.e15+2	p.E568_splice	TAOK1_uc010wbe.1_Splice_Site_p.E568_splice|TAOK1_uc010wbf.1_Splice_Site_p.E568_splice|TAOK1_uc002heb.1_Missense_Mutation_p.V395A	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1						mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			CTTAAAGAGGTACTTATGTCA	0.333												
EFCAB5	374786	broad.mit.edu	37	17	28380478	28380478	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:28380478A>G	uc002het.2	+	10	1698	c.1506A>G	c.(1504-1506)TCA>TCG	p.S502S	EFCAB5_uc010wbi.1_Silent_p.S245S|EFCAB5_uc010wbj.1_Silent_p.S446S|EFCAB5_uc010wbk.1_Silent_p.S159S|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.S381S|EFCAB5_uc010csf.2_Silent_p.S381S	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	502							calcium ion binding			ovary(1)|skin(1)	2						CAACACCATCACCAAACCCGC	0.398												
SLC6A4	6532	broad.mit.edu	37	17	28530221	28530221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:28530221C>T	uc002hey.3	-	14	2331	c.1787G>A	c.(1786-1788)CGG>CAG	p.R596Q	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	596	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GATGATCAACCGATAAGCTAT	0.378												
NF1	4763	broad.mit.edu	37	17	29587399	29587399	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:29587399T>A	uc002hgg.2	+	34	4776	c.4443T>A	c.(4441-4443)GAT>GAA	p.D1481E	NF1_uc002hgh.2_Missense_Mutation_p.D1460E|NF1_uc002hgi.1_Missense_Mutation_p.D493E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1481					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.?(3)		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)		TTTTCCTTGATATAGCATCTG	0.343			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)		
UTP6	55813	broad.mit.edu	37	17	30202317	30202317	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:30202317A>G	uc002hgr.2	-	14	1324	c.1241T>C	c.(1240-1242)ATC>ACC	p.I414T	UTP6_uc002hgq.2_Missense_Mutation_p.I230T|UTP6_uc010cst.2_Missense_Mutation_p.I263T	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	414					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CTTTGACTCGATCAGCACCTG	0.463												
CCT6B	10693	broad.mit.edu	37	17	33266705	33266705	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33266705G>A	uc002hig.2	-	9	1090	c.996C>T	c.(994-996)GCC>GCT	p.A332A	CCT6B_uc010ctg.2_Silent_p.A295A|CCT6B_uc010wcc.1_Silent_p.A287A	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	332					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				AAGAATTCACGGCCATTCCAC	0.363												
SLFN12	55106	broad.mit.edu	37	17	33747357	33747357	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33747357C>T	uc002hji.3	-	3	1460	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	SLFN12_uc002hjj.3_Silent_p.T361T|SLFN12_uc010cts.2_Silent_p.T361T	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	361				T -> A (in Ref. 1; BAA91512).			ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGGTAATGACGTATTTATTT	0.398												
SLFN13	146857	broad.mit.edu	37	17	33770933	33770933	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33770933G>T	uc002hjk.1	-	2	1403	c.1073C>A	c.(1072-1074)CCT>CAT	p.P358H	SLFN13_uc010wch.1_Missense_Mutation_p.P358H|SLFN13_uc002hjl.2_Missense_Mutation_p.P358H|SLFN13_uc010ctt.2_Missense_Mutation_p.P40H|SLFN13_uc002hjm.2_Missense_Mutation_p.P27H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	358						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAAGTCTGGAGGAAACTCTGA	0.388												
AP2B1	163	broad.mit.edu	37	17	33998825	33998825	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:33998825C>A	uc002hjr.2	+	15	2231	c.2042C>A	c.(2041-2043)CCT>CAT	p.P681H	AP2B1_uc002hjq.2_Missense_Mutation_p.P695H|AP2B1_uc010wci.1_Missense_Mutation_p.P657H|AP2B1_uc002hjs.2_Missense_Mutation_p.P624H|AP2B1_uc002hjt.2_Missense_Mutation_p.P695H|AP2B1_uc010ctv.2_Missense_Mutation_p.P695H|AP2B1_uc010wcj.1_Missense_Mutation_p.P432H	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	681	Pro-rich (stalk region).				axon guidance|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|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCTCCTTCACCTACACCTGCT	0.507												
RASL10B	91608	broad.mit.edu	37	17	34062412	34062412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34062412C>T	uc002hju.2	+	2	575	c.209C>T	c.(208-210)ACG>ATG	p.T70M		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	70	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGTCAATACGCTCCAGGTA	0.612												
GAS2L2	246176	broad.mit.edu	37	17	34072896	34072896	+	Silent	SNP	G	G	T	rs144128342	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34072896G>T	uc002hjv.1	-	6	1648	c.1620C>A	c.(1618-1620)GCC>GCA	p.A540A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	540					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACAGTGACGGCCCTTAGTG	0.622												
MYO19	80179	broad.mit.edu	37	17	34862384	34862384	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34862384G>A	uc010wcy.1	-	19	2700	c.1708C>T	c.(1708-1710)CTG>TTG	p.L570L	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	570	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTAGGAAACAGCCCCATGAGC	0.592												
GGNBP2	79893	broad.mit.edu	37	17	34937854	34937854	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:34937854A>G	uc002hnb.2	+	9	1350	c.1101A>G	c.(1099-1101)GAA>GAG	p.E367E	GGNBP2_uc002hna.2_Silent_p.E367E|GGNBP2_uc002hnc.1_Silent_p.E196E	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	367					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)		GAGTAAGAGAACTCAAGCAAG	0.368												
LHX1	3975	broad.mit.edu	37	17	35300172	35300172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35300172C>T	uc002hnh.1	+	5	1961	c.965C>T	c.(964-966)ACG>ATG	p.T322M		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	322					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				CCGTCCGGGACGCCCCTGGGT	0.726												
LHX1	3975	broad.mit.edu	37	17	35300261	35300261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35300261G>A	uc002hnh.1	+	5	2050	c.1054G>A	c.(1054-1056)GGG>AGG	p.G352R		NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	352					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				GCACCCACCCGGGGACTCGCC	0.741												
ACACA	31	broad.mit.edu	37	17	35627644	35627644	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35627644G>C	uc002hnm.2	-	10	1197	c.1006C>G	c.(1006-1008)CAG>GAG	p.Q336E	ACACA_uc002hnk.2_Missense_Mutation_p.Q258E|ACACA_uc002hnl.2_Missense_Mutation_p.Q278E|ACACA_uc002hnn.2_Missense_Mutation_p.Q336E|ACACA_uc002hno.2_Missense_Mutation_p.Q373E|ACACA_uc010cuz.2_Missense_Mutation_p.Q336E	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	336	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACTCTACCTGTCTGAAGAGA	0.363												
TADA2A	6871	broad.mit.edu	37	17	35830566	35830566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:35830566C>T	uc002hnt.2	+	13	1115	c.958C>T	c.(958-960)CTC>TTC	p.L320F	TADA2A_uc002hnv.2_Missense_Mutation_p.L320F|TADA2A_uc002hnw.2_Missense_Mutation_p.L219F|TADA2A_uc010cvb.2_Missense_Mutation_p.L116F	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	320					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						ACGCACTATGCTCTCAGAAGT	0.512												
GPR179	440435	broad.mit.edu	37	17	36485249	36485249	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36485249A>G	uc002hpz.2	-	11	4224	c.4203T>C	c.(4201-4203)GAT>GAC	p.D1401D		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1401	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGAGGGAGATCCTTCACTG	0.527												
GPR179	440435	broad.mit.edu	37	17	36489875	36489875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36489875A>G	uc002hpz.2	-	9	1852	c.1831T>C	c.(1831-1833)TTC>CTC	p.F611L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	611	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAAGAAGAAGAGGAGGAGG	0.622											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CWC25	54883	broad.mit.edu	37	17	36971185	36971185	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:36971185A>G	uc002hqu.2	-	3	510	c.357T>C	c.(355-357)TTT>TTC	p.F119F	CWC25_uc010wdv.1_Silent_p.F56F|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	coiled-coil domain containing 49	119											0						CTGATGGGGCAAAGATAGAGC	0.532												
FBXO47	494188	broad.mit.edu	37	17	37101363	37101363	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37101363T>C	uc002hrc.2	-	7	843	c.643A>G	c.(643-645)ATC>GTC	p.I215V		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	215											0						AAGAGTCTGATTCTTAACTCC	0.388												
MED1	5469	broad.mit.edu	37	17	37564724	37564724	+	Silent	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37564724T>A	uc002hrv.3	-	17	3962	c.3750A>T	c.(3748-3750)GGA>GGT	p.G1250G	MED1_uc010wee.1_Silent_p.G1078G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1250	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGCCTGAGGATCCTAACCCTG	0.488										HNSCC(31;0.082)		
PGAP3	93210	broad.mit.edu	37	17	37829804	37829804	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:37829804G>A	uc002hsj.2	-	6	700	c.657C>T	c.(655-657)TTC>TTT	p.F219F	PGAP3_uc010cvy.2_Intron|PGAP3_uc010wej.1_Silent_p.F198F|PGAP3_uc002hsk.2_Silent_p.F168F|PGAP3_uc010cvz.2_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	219	Lumenal (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						AGCCATAGTCGAAGCGGATGA	0.632												
MED24	9862	broad.mit.edu	37	17	38191547	38191547	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:38191547G>T	uc002htt.2	-	6	695	c.382C>A	c.(382-384)CTC>ATC	p.L128I	MED24_uc010wes.1_5'UTR|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.L153I|MED24_uc002htu.2_Missense_Mutation_p.L115I|MED24_uc010cwn.2_Missense_Mutation_p.L115I|MED24_uc010weu.1_Missense_Mutation_p.L38I|MED24_uc010wev.1_Missense_Mutation_p.L78I|MED24_uc010wew.1_Missense_Mutation_p.L57I|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.L78I|MED24_uc010wfb.1_Missense_Mutation_p.L140I|MED24_uc010wfc.1_Missense_Mutation_p.L65I	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	128	LXXLL motif 1.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					AGCCAGTGGAGGGCGCTAAGA	0.627											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TNS4	84951	broad.mit.edu	37	17	38638399	38638399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:38638399G>A	uc010cxb.2	-	8	1818	c.1654C>T	c.(1654-1656)CTC>TTC	p.L552F	TNS4_uc002huu.3_5'Flank	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	552	Phosphatase tensin-type.|SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGATGGTGAGTTTGCAGGGC	0.572												
KRTAP9-8	83901	broad.mit.edu	37	17	39394370	39394370	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39394370A>G	uc002hwh.3	+	1	101	c.67A>G	c.(67-69)ACT>GCT	p.T23A	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	23	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GAAGCCCACCACTGTGACCAC	0.607												
KRT35	3886	broad.mit.edu	37	17	39636904	39636904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39636904C>T	uc002hws.2	-	1	489	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	149	Rod.|Coil 1B.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)|skin(1)	2		Breast(137;0.000286)				CTCGATGGTCCGGAAGTAGGA	0.552												
KRT36	8689	broad.mit.edu	37	17	39643624	39643624	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39643624C>T	uc002hwt.2	-	5	966	c.966G>A	c.(964-966)GAG>GAA	p.E322E		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	322	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				GAGCCTGCAGCTCAATCTCTA	0.647												
KRT13	3860	broad.mit.edu	37	17	39661316	39661316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39661316G>A	uc002hwu.1	-	1	550	c.487C>T	c.(487-489)CGG>TGG	p.R163W	KRT13_uc002hwv.1_Missense_Mutation_p.R163W|KRT13_uc002hww.2_Missense_Mutation_p.R56W|KRT13_uc010wfr.1_Missense_Mutation_p.R56W|KRT13_uc010cxo.2_Missense_Mutation_p.R163W|KRT13_uc002hwx.1_Missense_Mutation_p.R151W	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	163	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.597												
KRT16	3868	broad.mit.edu	37	17	39767667	39767667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:39767667C>T	uc002hxg.3	-	3	840	c.701G>A	c.(700-702)AGG>AAG	p.R234K	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632												
KLHL10	317719	broad.mit.edu	37	17	40001736	40001736	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40001736A>G	uc010cxr.2	+	3	1185	c.1043A>G	c.(1042-1044)GAT>GGT	p.D348G	KLHL10_uc010wfv.1_Missense_Mutation_p.D342G|KLHL10_uc010wfw.1_Missense_Mutation_p.D260G	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	348	Kelch 2.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GGGGGGTTTGATAGTGTAGAC	0.478												
ACLY	47	broad.mit.edu	37	17	40061887	40061887	+	Silent	SNP	A	A	G	rs111680156		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40061887A>G	uc002hyg.2	-	9	1054	c.891T>C	c.(889-891)GGT>GGC	p.G297G	ACLY_uc002hyh.2_Silent_p.G297G|ACLY_uc002hyi.2_Silent_p.G351G|ACLY_uc010wfx.1_Silent_p.G351G|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	297					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCTCGTTGACACCCCCTAGAT	0.582												
ACLY	47	broad.mit.edu	37	17	40068710	40068710	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40068710T>C	uc002hyg.2	-	3	408	c.245A>G	c.(244-246)AAG>AGG	p.K82R	ACLY_uc002hyh.2_Missense_Mutation_p.K82R|ACLY_uc002hyi.2_Missense_Mutation_p.K136R|ACLY_uc010wfx.1_Missense_Mutation_p.K136R|ACLY_uc010wfy.1_Missense_Mutation_p.K82R	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	82					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				CAGCCAGGACTTGACCCCATC	0.542												
PTRF	284119	broad.mit.edu	37	17	40557220	40557220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40557220G>A	uc002hzo.2	-	2	817	c.658C>T	c.(658-660)CGT>TGT	p.R220C	PTRF_uc010wgi.1_Missense_Mutation_p.R202C	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	220	Potential.				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGCTTGATACGCTCTGCGCGG	0.652												
WNK4	65266	broad.mit.edu	37	17	40940731	40940731	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40940731C>T	uc002ibj.2	+	11	2094	c.2073C>T	c.(2071-2073)TGC>TGT	p.C691C	WNK4_uc010wgx.1_Silent_p.C355C|WNK4_uc002ibk.1_Silent_p.C463C|WNK4_uc010wgy.1_Silent_p.C35C	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	691					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGTTGAGTGCCAGCTACAGA	0.532												
WNK4	65266	broad.mit.edu	37	17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	rs149389156	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40945659G>A	uc002ibj.2	+	12	2228	c.2207G>A	c.(2206-2208)CGG>CAG	p.R736Q	WNK4_uc010wgx.1_Missense_Mutation_p.R400Q|WNK4_uc002ibk.1_Missense_Mutation_p.R508Q|WNK4_uc010wgy.1_Missense_Mutation_p.R80Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542												
PSME3	10197	broad.mit.edu	37	17	40989706	40989706	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40989706C>T	uc002ibr.2	+	5	510	c.284C>T	c.(283-285)GCC>GTC	p.A95V	PSME3_uc002ibp.2_Missense_Mutation_p.A34V|PSME3_uc002ibq.2_Missense_Mutation_p.A95V|PSME3_uc002ibs.2_Missense_Mutation_p.A106V|PSME3_uc010whd.1_Missense_Mutation_p.P20S	NM_005789	NP_005780	P61289	PSME3_HUMAN	proteasome activator subunit 3 isoform 1	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding				0		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGAAGAAGCCTTCCAAGGT	0.512												
IFI35	3430	broad.mit.edu	37	17	41165627	41165627	+	Silent	SNP	C	C	T	rs138159139		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41165627C>T	uc010whj.1	+	5	712	c.516C>T	c.(514-516)GAC>GAT	p.D172D		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	170					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCGATGTGGACGTTCGGGAGC	0.582												
SOST	50964	broad.mit.edu	37	17	41832758	41832758	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41832758G>A	uc002iec.1	-	2	641	c.594C>T	c.(592-594)CGC>CGT	p.R198R		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	198					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CGCTCCGGGCGCGGGGCCGCG	0.557												
UBTF	7343	broad.mit.edu	37	17	42290225	42290225	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42290225T>C	uc002igb.2	-	6	689	c.622A>G	c.(622-624)ACC>GCC	p.T208A	UBTF_uc002igc.2_Missense_Mutation_p.T208A|UBTF_uc010czs.2_Missense_Mutation_p.T208A|UBTF_uc002igd.2_Missense_Mutation_p.T208A|UBTF_uc010czt.2_Missense_Mutation_p.T208A|UBTF_uc002ige.2_Missense_Mutation_p.T208A	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	208	HMG box 2.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTCGTGGGTGTACCACAGC	0.617												
GRN	2896	broad.mit.edu	37	17	42427679	42427679	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42427679G>T	uc002igp.1	+	5	652	c.433G>T	c.(433-435)GGC>TGC	p.G145C	GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	145					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TATGGTCGATGGCTCCTGGGG	0.612												
EFTUD2	9343	broad.mit.edu	37	17	42958005	42958005	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:42958005A>G	uc002ihn.2	-	8	797	c.536T>C	c.(535-537)GTA>GCA	p.V179A	EFTUD2_uc010wje.1_Missense_Mutation_p.V144A|EFTUD2_uc010wjf.1_Missense_Mutation_p.V169A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	179						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				TTTGATGCCTACACCTCTCTG	0.453												
C1QL1	10882	broad.mit.edu	37	17	43037611	43037611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43037611C>T	uc002ihv.2	-	2	950	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	241	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				GCTGTTGCCGCCGTGTGCTTT	0.612												
ACBD4	79777	broad.mit.edu	37	17	43220923	43220923	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43220923G>A	uc010wjj.1	+	12	1410	c.941G>A	c.(940-942)GGA>GAA	p.G314E	ACBD4_uc002iie.2_Missense_Mutation_p.G314E|ACBD4_uc002iif.2_Silent_p.R301R|ACBD4_uc002iic.2_Silent_p.R301R|ACBD4_uc010dae.2_Missense_Mutation_p.G236E	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						GAATGTTTCGGACCCAAAAGA	0.597												
PLEKHM1	9842	broad.mit.edu	37	17	43531503	43531503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43531503G>A	uc002ija.2	-	7	1885	c.1715C>T	c.(1714-1716)ACC>ATC	p.T572I	PLEKHM1_uc010wjm.1_Missense_Mutation_p.T544I|PLEKHM1_uc002ijb.2_Missense_Mutation_p.T47I|PLEKHM1_uc010wjn.1_Missense_Mutation_p.T521I|PLEKHM1_uc002ijc.2_Missense_Mutation_p.T26I	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	572	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CTCCACACAGGTGTGCTCCTC	0.632												
MAPT	4137	broad.mit.edu	37	17	44060714	44060714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:44060714C>T	uc002ijr.3	+	6	864	c.544C>T	c.(544-546)CGC>TGC	p.R182C	MAPT_uc010dau.2_Missense_Mutation_p.R182C|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	182					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				AGAGGGCGGCCGCCACGCCCC	0.697												
C17orf57	124989	broad.mit.edu	37	17	45471426	45471426	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:45471426A>G	uc002iln.2	+	16	2173	c.1762A>G	c.(1762-1764)ACT>GCT	p.T588A	C17orf57_uc002ilm.2_Missense_Mutation_p.T492A	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	588							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						ATTCATTGATACTATGATGAG	0.264												
TBX21	30009	broad.mit.edu	37	17	45822603	45822603	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:45822603C>T	uc002ilv.1	+	6	1690	c.1479C>T	c.(1477-1479)GGC>GGT	p.G493G		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	493					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						CAGGACTGGGCGAAGGAGACT	0.617												
HOXB13	10481	broad.mit.edu	37	17	46805653	46805653	+	Silent	SNP	G	G	T	rs150413396		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:46805653G>T	uc002ioa.2	-	1	459	c.303C>A	c.(301-303)GCC>GCA	p.A101A		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	101					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGCTGCCTGGGCACAGGGTT	0.672												
NGFR	4804	broad.mit.edu	37	17	47589350	47589350	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:47589350C>T	uc002ioz.3	+	5	1043	c.918C>T	c.(916-918)GGC>GGT	p.G306G		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	306	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCGACAGTGGCATCTCCGTGG	0.652												
ITGA3	3675	broad.mit.edu	37	17	48145586	48145586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48145586C>T	uc010dbl.2	+	4	1045	c.581C>T	c.(580-582)ACG>ATG	p.T194M	ITGA3_uc010dbm.2_Missense_Mutation_p.T194M	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	194	FG-GAP 3.|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						TACCTGGAGACGGGCATGTGC	0.592												
XYLT2	64132	broad.mit.edu	37	17	48434595	48434595	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48434595C>T	uc002iqo.2	+	9	2032	c.1923C>T	c.(1921-1923)AGC>AGT	p.S641S	XYLT2_uc010dbo.2_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	641	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					ACCAGGCCAGCCGGCTCCAGA	0.652												
EME1	146956	broad.mit.edu	37	17	48453452	48453452	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:48453452C>T	uc002iqs.1	+	3	874	c.801C>T	c.(799-801)GGC>GGT	p.G267G	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Silent_p.G267G	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	267					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AAGGTGGGGGCCAGCTCCTAG	0.577								Direct_reversal_of_damage|Homologous_recombination				
HLF	3131	broad.mit.edu	37	17	53398143	53398143	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:53398143A>G	uc002iug.1	+	4	1316	c.791A>G	c.(790-792)AAC>AGC	p.N264S	HLF_uc010dce.1_Missense_Mutation_p.N179S|HLF_uc002iuh.2_Missense_Mutation_p.N179S|HLF_uc010wni.1_Missense_Mutation_p.N211S	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	264	Leucine-zipper.				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GAGAAGGAGAACTCGGCCCTC	0.607			T	TCF3	ALL							
MMD	23531	broad.mit.edu	37	17	53491524	53491524	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:53491524A>G	uc002iui.2	-	2	381	c.96T>C	c.(94-96)TGT>TGC	p.C32C		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	32	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						CGTGTGTGTAACAGTTAGCAG	0.458												
SCPEP1	59342	broad.mit.edu	37	17	55079432	55079432	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:55079432C>A	uc002iuv.3	+	12	1239	c.1186C>A	c.(1186-1188)CAG>AAG	p.Q396K	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.Q346K	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	396					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					TAAATTCAGTCAGCTGAAGTG	0.483												
LPO	4025	broad.mit.edu	37	17	56326949	56326949	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56326949G>A	uc002ivt.2	+	6	782	c.466G>A	c.(466-468)GCC>ACC	p.A156T	LPO_uc010dco.2_Missense_Mutation_p.A156T|LPO_uc010wnr.1_Missense_Mutation_p.A73T|LPO_uc010wns.1_Missense_Mutation_p.A97T|LPO_uc010dcp.2_Missense_Mutation_p.A73T|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	156					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GCTGGGCGCCGCCAACAGGGC	0.711												
TUBD1	51174	broad.mit.edu	37	17	57958272	57958272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:57958272G>A	uc002ixw.1	-	4	798	c.520C>T	c.(520-522)CCT>TCT	p.P174S	TUBD1_uc010ddf.1_Missense_Mutation_p.P174S|TUBD1_uc010ddg.1_Missense_Mutation_p.P139S|TUBD1_uc010ddh.1_Missense_Mutation_p.P55S|TUBD1_uc010wok.1_Missense_Mutation_p.P174S|TUBD1_uc002ixx.1_Missense_Mutation_p.P174S|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	174					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTTCCATAAGGCCAAATAATC	0.363												
USP32	84669	broad.mit.edu	37	17	58313509	58313509	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:58313509T>C	uc002iyo.1	-	12	1515	c.1229A>G	c.(1228-1230)TAT>TGT	p.Y410C	USP32_uc002iyn.1_Missense_Mutation_p.Y80C	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	410	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)			GTATTTGACATATTCTTTCCA	0.423												
TBX4	9496	broad.mit.edu	37	17	59560871	59560871	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:59560871C>T	uc002izi.2	+	8	1677	c.1632C>T	c.(1630-1632)GAC>GAT	p.D544D	TBX4_uc010ddo.2_Silent_p.D545D|TBX4_uc010woy.1_Silent_p.D545D	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	544					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						ACTGGACTGACGGATGACTCT	0.507												
INTS2	57508	broad.mit.edu	37	17	59968953	59968953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:59968953G>A	uc002izn.2	-	14	1896	c.1820C>T	c.(1819-1821)GCG>GTG	p.A607V	INTS2_uc002izm.2_Missense_Mutation_p.A599V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	607					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						AGATTTCGACGCAGGAGTAAG	0.378												
MED13	9969	broad.mit.edu	37	17	60030383	60030383	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60030383A>G	uc002izo.2	-	27	6137	c.6060T>C	c.(6058-6060)ACT>ACC	p.T2020T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2020					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						CAGGAGAACCAGTTGGAGAAG	0.403												
MED13	9969	broad.mit.edu	37	17	60043998	60043998	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60043998A>G	uc002izo.2	-	19	4283	c.4206T>C	c.(4204-4206)GGT>GGC	p.G1402G		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1402					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTCTATGTTGACCTAATCGAC	0.333												
MED13	9969	broad.mit.edu	37	17	60072701	60072701	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60072701A>G	uc002izo.2	-	10	2070	c.1993T>C	c.(1993-1995)TTA>CTA	p.L665L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	665					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GAAACTTTTAAAGGTTTCTTA	0.279												
MRC2	9902	broad.mit.edu	37	17	60765963	60765963	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:60765963T>C	uc002jad.2	+	22	3565	c.3163T>C	c.(3163-3165)TAT>CAT	p.Y1055H	MRC2_uc002jae.2_Missense_Mutation_p.Y126H|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1055	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCCTTTGATGTATGCCAACTG	0.617												
TANC2	26115	broad.mit.edu	37	17	61466882	61466882	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:61466882C>G	uc002jal.3	+	15	2829	c.2806C>G	c.(2806-2808)CTG>GTG	p.L936V	TANC2_uc010wpe.1_Missense_Mutation_p.L846V|TANC2_uc002jan.1_Missense_Mutation_p.L87V|TANC2_uc002jao.3_Missense_Mutation_p.L37V|TANC2_uc002jam.1_Missense_Mutation_p.L303V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	936	ANK 3.						binding			ovary(2)	2						CATTGTGGTGCTGCTGTGCAA	0.532												
GH1	2688	broad.mit.edu	37	17	61995762	61995762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:61995762C>T	uc002jdj.2	-	2	177	c.115G>A	c.(115-117)GCT>ACT	p.A39T	GH1_uc002jdi.2_Missense_Mutation_p.A39T|GH1_uc002jdk.2_Missense_Mutation_p.A39T|GH1_uc002jdl.2_Missense_Mutation_p.A39T|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.A39T	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	39					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						CGGAGCATAGCGTTGTCAAAA	0.597												
SCN4A	6329	broad.mit.edu	37	17	62018681	62018681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:62018681G>A	uc002jds.1	-	24	5038	c.4961C>T	c.(4960-4962)GCC>GTC	p.A1654V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1654					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTTGGGCTTGGCAATCCTCAG	0.577												
BPTF	2186	broad.mit.edu	37	17	65942395	65942395	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:65942395A>G	uc002jgf.2	+	21	7632	c.7571A>G	c.(7570-7572)GAA>GGA	p.E2524G	BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2650					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)			ATTAAGCGTGAACACACCCTC	0.418												
ABCA10	10349	broad.mit.edu	37	17	67161157	67161157	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67161157A>G	uc010dfa.1	-	27	4109	c.3230T>C	c.(3229-3231)ATG>ACG	p.M1077T	ABCA10_uc010wqs.1_Missense_Mutation_p.M69T|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1077	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					TATGAAAATCATGCACAAAAT	0.343												
ABCA5	23461	broad.mit.edu	37	17	67287435	67287435	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67287435T>C	uc002jif.2	-	11	2746	c.1528A>G	c.(1528-1530)ACT>GCT	p.T510A	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T510A|ABCA5_uc002jih.2_Missense_Mutation_p.T510A|ABCA5_uc010dfe.2_Missense_Mutation_p.T510A	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	510	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGTAAGGCAGTAATCTGACCC	0.363												
SOX9	6662	broad.mit.edu	37	17	70118922	70118922	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:70118922A>G	uc002jiw.2	+	2	866	c.494A>G	c.(493-495)CAC>CGC	p.H165R	uc002jiv.2_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	165	HMG box.		H -> Q (in CMD1; residual DNA binding and transactivation of regulated genes).		cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGCGTGCAGCACAAGAAGGAC	0.662												
COG1	9382	broad.mit.edu	37	17	71196745	71196745	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:71196745A>G	uc002jjg.2	+	6	1147	c.1111A>G	c.(1111-1113)ATG>GTG	p.M371V	COG1_uc002jjh.2_Missense_Mutation_p.M371V|COG1_uc002jjf.1_Missense_Mutation_p.M371V	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	371					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			CAACCTGCTCATGTACGTGAA	0.473												
DNAI2	64446	broad.mit.edu	37	17	72278019	72278019	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72278019G>A	uc002jkf.2	+	2	162	c.63G>A	c.(61-63)TCG>TCA	p.S21S	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	21					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						GCAATTTCTCGGACCGCCAGG	0.622									Kartagener_syndrome			
DNAI2	64446	broad.mit.edu	37	17	72301516	72301516	+	Silent	SNP	G	G	A	rs142571722	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72301516G>A	uc002jkf.2	+	9	1245	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	382	WD 4.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						ACTTCCTGACGGTTGGCGACT	0.577									Kartagener_syndrome			
GRIN2C	2905	broad.mit.edu	37	17	72838813	72838813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:72838813C>T	uc002jlt.1	-	13	3619	c.3463G>A	c.(3463-3465)GCC>ACC	p.A1155T	GRIN2C_uc010wrh.1_RNA	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	1155	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGCAGGTGGGCGTGGGCGTGC	0.706												
LLGL2	3993	broad.mit.edu	37	17	73565397	73565397	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73565397G>T	uc002joh.2	+	14	1726	c.1572G>T	c.(1570-1572)ACG>ACT	p.T524T	LLGL2_uc002joi.2_Silent_p.T524T|LLGL2_uc010dgg.1_Silent_p.T524T|LLGL2_uc002joj.2_Silent_p.T513T|LLGL2_uc010wsd.1_Silent_p.T151T	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	524	WD 9.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGGCACGGCAGGGCAGG	0.647												
RECQL5	9400	broad.mit.edu	37	17	73625122	73625122	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73625122A>G	uc010dgl.2	-	16	2537	c.2381T>C	c.(2380-2382)GTT>GCT	p.V794A	RECQL5_uc010dgk.2_Missense_Mutation_p.V767A|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	794					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGTCCCTGAACCCCCTCACA	0.652								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
FBF1	85302	broad.mit.edu	37	17	73910955	73910955	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73910955C>T	uc002jqc.2	-	24	2916	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.R872H|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Missense_Mutation_p.R192H	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	881											0						GGCAGCCAGGCGCCGCCGCTC	0.687												
EVPL	2125	broad.mit.edu	37	17	74018092	74018092	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:74018092G>A	uc002jqi.2	-	7	891	c.663C>T	c.(661-663)CGC>CGT	p.R221R	EVPL_uc010wss.1_Silent_p.R221R|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	221	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						GGCTCTGCCCGCGCCACGACG	0.701												
CYGB	114757	broad.mit.edu	37	17	74527136	74527136	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:74527136C>T	uc002jru.1	-	3	622	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CYGB_uc002jrv.1_Missense_Mutation_p.R90H|PRCD_uc002jrw.1_Intron	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	cytoglobin	155	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity				0						GATGAGGCCACGCAGCTTGGC	0.642												
SEC14L1	6397	broad.mit.edu	37	17	75202391	75202391	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75202391T>A	uc002jto.2	+	12	1517	c.1250T>A	c.(1249-1251)ATC>AAC	p.I417N	SEC14L1_uc010dhc.2_Missense_Mutation_p.I417N|SEC14L1_uc010wth.1_Missense_Mutation_p.I417N|SEC14L1_uc002jtm.2_Missense_Mutation_p.I417N|SEC14L1_uc010wti.1_Missense_Mutation_p.I383N|SEC14L1_uc010wtj.1_5'Flank|SEC14L1_uc002jtr.2_5'Flank	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	417	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CTGCTGCGGATCATCGAGGTG	0.607												
SEC14L1	6397	broad.mit.edu	37	17	75202481	75202481	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75202481T>C	uc002jto.2	+	12	1607	c.1340T>C	c.(1339-1341)CTG>CCG	p.L447P	SEC14L1_uc010dhc.2_Missense_Mutation_p.L447P|SEC14L1_uc010wth.1_Missense_Mutation_p.L447P|SEC14L1_uc002jtm.2_Missense_Mutation_p.L447P|SEC14L1_uc010wti.1_Missense_Mutation_p.L413P|SEC14L1_uc010wtj.1_5'Flank|SEC14L1_uc002jtr.2_5'Flank	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	447	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CTCTGGACGCTGGTGGGTTGA	0.517												
SEPT9	10801	broad.mit.edu	37	17	75493432	75493432	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:75493432C>T	uc002jts.3	+	11	1735	c.1609C>T	c.(1609-1611)CGG>TGG	p.R537W	SEPT9_uc010wtk.1_Missense_Mutation_p.R518W|SEPT9_uc002jtt.3_Missense_Mutation_p.R373W|SEPT9_uc002jtu.3_Missense_Mutation_p.R519W|SEPT9_uc002jtv.2_Missense_Mutation_p.R530W|SEPT9_uc002jtw.2_Missense_Mutation_p.R373W|SEPT9_uc010wtl.1_Missense_Mutation_p.R313W|SEPT9_uc002jty.3_Missense_Mutation_p.R286W|SEPT9_uc010wtm.1_Missense_Mutation_p.R286W|SEPT9_uc010wtn.1_Missense_Mutation_p.R286W|SEPT9_uc010dhd.2_Missense_Mutation_p.R425W	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	537					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCTACCTGCGGGACCTTCT	0.607												
CYTH1	9267	broad.mit.edu	37	17	76696475	76696475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76696475C>T	uc002jvw.2	-	7	559	c.488G>A	c.(487-489)CGG>CAG	p.R163Q	CYTH1_uc010wtw.1_Missense_Mutation_p.R104Q|CYTH1_uc010wtx.1_Missense_Mutation_p.R104Q	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	163	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTCCATCATCCGGTCGATCTT	0.507												
CYTH1	9267	broad.mit.edu	37	17	76705763	76705763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76705763C>T	uc002jvw.2	-	2	145	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	CYTH1_uc010wtw.1_5'UTR|CYTH1_uc010wtx.1_5'UTR	NM_017456	NP_059430	Q15438	CYH1_HUMAN	cytohesin 1 isoform 2	25	Potential.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CTGTTTTCTCCGTCGGATGTT	0.438												
CANT1	124583	broad.mit.edu	37	17	76989793	76989793	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:76989793A>G	uc002jwn.2	-	6	1484	c.1045T>C	c.(1045-1047)TTC>CTC	p.F349L	CANT1_uc002jwk.2_Missense_Mutation_p.F349L|CANT1_uc002jwj.2_Missense_Mutation_p.F349L|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	349	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TTGGGGATGAACTTGAAGGAC	0.642			T	ETV4	prostate							
CCDC40	55036	broad.mit.edu	37	17	78055787	78055787	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78055787T>C	uc010dht.2	+	12	1946	c.1919T>C	c.(1918-1920)ATG>ACG	p.M640T	CCDC40_uc002jxm.3_Missense_Mutation_p.M423T|CCDC40_uc002jxn.3_Missense_Mutation_p.M36T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	640					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGGAGCACATGACCTCCAAC	0.607												
SLC26A11	284129	broad.mit.edu	37	17	78222037	78222037	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78222037C>T	uc002jyb.1	+	14	1672	c.1403C>T	c.(1402-1404)GCA>GTA	p.A468V	SLC26A11_uc002jyc.1_Missense_Mutation_p.A468V|SLC26A11_uc002jyd.1_Missense_Mutation_p.A468V|SLC26A11_uc010dhv.1_Missense_Mutation_p.A468V	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	468	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCACTCTGCAGCCAGGCCT	0.642												
RNF213	57674	broad.mit.edu	37	17	78317675	78317675	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78317675G>C	uc002jyh.1	+	3	644	c.421G>C	c.(421-423)GTG>CTG	p.V141L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGAATTTGGGTGTTTCTTTT	0.428												
RNF213	57674	broad.mit.edu	37	17	78338303	78338303	+	Missense_Mutation	SNP	G	G	A	rs147900479	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78338303G>A	uc002jyh.1	+	17	6263	c.6040G>A	c.(6040-6042)GTC>ATC	p.V2014I	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.V396I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGAGAGCCGCGTCCCCGAGTT	0.587												
RNF213	57674	broad.mit.edu	37	17	78346449	78346449	+	Silent	SNP	G	G	A	rs141681070	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78346449G>A	uc002jyh.1	+	23	7108	c.6885G>A	c.(6883-6885)TCG>TCA	p.S2295S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.S677S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGAGGCCTCGGTTGAATACC	0.577												
RNF213	57674	broad.mit.edu	37	17	78360232	78360232	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78360232T>C	uc002jyh.1	+	37	9162	c.8939_splice	c.e37+2	p.S2980_splice	uc002jyi.1_Intron|RNF213_uc010dhx.1_Splice_Site	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213											ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAACAACAGGTTTGTGCACGA	0.557												
C17orf90	339229	broad.mit.edu	37	17	79632587	79632587	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:79632587A>G	uc002kba.2	-	2	99	c.88T>C	c.(88-90)TGC>CGC	p.C30R	C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	hypothetical protein LOC339229	30											0	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCTGGCAGCAGTCCGGGCTG	0.612												
FASN	2194	broad.mit.edu	37	17	80049217	80049217	+	Missense_Mutation	SNP	G	G	A	rs143812680		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80049217G>A	uc002kdu.2	-	9	1490	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	458	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGGACAGCCGCGATGTCGTT	0.716												
CCDC57	284001	broad.mit.edu	37	17	80059697	80059697	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80059697T>C	uc002kdx.1	-	17	2646	c.2609A>G	c.(2608-2610)CAG>CGG	p.Q870R		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	871										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATGCCTGCCTGCATCTTGAC	0.597												
RAB40B	10966	broad.mit.edu	37	17	80615771	80615771	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:80615771T>G	uc002kft.2	-	6	931	c.805A>C	c.(805-807)AAC>CAC	p.N269H	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	269					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTGGTGCAGTTTTTGGGGGGG	0.587												
THOC1	9984	broad.mit.edu	37	18	216529	216529	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:216529T>C	uc002kkj.3	-	19	1599	c.1559A>G	c.(1558-1560)GAA>GGA	p.E520G	THOC1_uc002kkk.3_RNA|THOC1_uc002kkh.3_Missense_Mutation_p.E144G	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	520					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCAAGATATTCTGGTAAACT	0.383												
CLUL1	27098	broad.mit.edu	37	18	627251	627251	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:627251C>A	uc002kkp.2	+	5	723	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	CLUL1_uc010wys.1_Missense_Mutation_p.S245Y|CLUL1_uc002kkq.2_Missense_Mutation_p.S193Y	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	193					cell death	extracellular region				ovary(2)	2						GATGTGAATTCTCTCTTTAAC	0.408												
LPIN2	9663	broad.mit.edu	37	18	2920878	2920878	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2920878T>C	uc002klo.2	-	19	2683	c.2444A>G	c.(2443-2445)GAT>GGT	p.D815G		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	lipin 2	815	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			ovary(1)|skin(1)	2				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGCATAGACATCCTGCAGAAG	0.463												
L3MBTL4	91133	broad.mit.edu	37	18	6239801	6239801	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:6239801A>G	uc002kmz.3	-	9	783	c.623T>C	c.(622-624)TTG>TCG	p.L208S	L3MBTL4_uc010dkt.2_Missense_Mutation_p.L208S|L3MBTL4_uc002kmy.3_Missense_Mutation_p.L46S	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	208	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				CACACACACCAAGGAAGGGTT	0.468												
ARHGAP28	79822	broad.mit.edu	37	18	6873731	6873731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:6873731G>A	uc010wzi.1	+	8	876	c.638G>A	c.(637-639)CGA>CAA	p.R213Q	ARHGAP28_uc002knc.2_Missense_Mutation_p.R338Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.R231Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.R231Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.R222Q			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	213					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				GACGGTGACCGAAAGAAAGAC	0.418												
PTPRM	5797	broad.mit.edu	37	18	8244194	8244194	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8244194T>A	uc002knn.3	+	15	2942	c.2439T>A	c.(2437-2439)AAT>AAA	p.N813K	PTPRM_uc010dkv.2_Missense_Mutation_p.N813K|PTPRM_uc010wzl.1_Missense_Mutation_p.N600K	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	813	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ACACGCACAATCTGAATGGGA	0.448												
RAB12	201475	broad.mit.edu	37	18	8609919	8609919	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8609919A>T	uc002knp.2	+	1	477	c.194A>T	c.(193-195)GAC>GTC	p.D65V	RAB12_uc002kno.1_Missense_Mutation_p.D161V	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	65					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TTCACCGACGACACCTTCTGC	0.701												
KIAA0802	23255	broad.mit.edu	37	18	8784835	8784835	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:8784835C>T	uc002knr.2	+	6	1867	c.1725C>T	c.(1723-1725)GAC>GAT	p.D575D	KIAA0802_uc002knq.2_Silent_p.D575D|KIAA0802_uc010dkw.1_Silent_p.D413D	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	926											0						TGGGCCCAGACTTGCAGGTAA	0.647												
TXNDC2	84203	broad.mit.edu	37	18	9887067	9887067	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:9887067C>A	uc002koi.3	+	2	1040	c.591C>A	c.(589-591)TCC>TCA	p.S197S	TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Silent_p.S130S	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	197	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						TCCCCAAGTCCTCAGAAGAAG	0.567												
GNAL	2774	broad.mit.edu	37	18	11752365	11752365	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:11752365C>T	uc010dkz.2	+	2	179	c.-67C>T	c.(-69--65)CACGT>CATGT		GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Translation_Start_Site	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),						activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GAGCCGCACACGTCTCCAACT	0.562												
MC2R	4158	broad.mit.edu	37	18	13884985	13884985	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:13884985A>G	uc002ksp.1	-	2	710	c.533T>C	c.(532-534)TTC>TCC	p.F178S		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	178	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGCGACGTGAAGGTGATCAC	0.582												
ROCK1	6093	broad.mit.edu	37	18	18588031	18588031	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:18588031A>G	uc002kte.2	-	14	2476	c.1535T>C	c.(1534-1536)GTA>GCA	p.V512A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	512	Interaction with FHOD1.|Potential.|REM.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTCATTTTCTACATTTCTTCT	0.323												
LAMA3	3909	broad.mit.edu	37	18	21441613	21441613	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:21441613G>C	uc002kuq.2	+	35	4512	c.4426G>C	c.(4426-4428)GTG>CTG	p.V1476L	LAMA3_uc002kur.2_Missense_Mutation_p.V1476L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1476	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)	TTTCCAGTTTGTGGATATGCT	0.557												
ZNF521	25925	broad.mit.edu	37	18	22805224	22805224	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:22805224G>A	uc002kvk.2	-	4	2905	c.2658C>T	c.(2656-2658)TAC>TAT	p.Y886Y	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.Y886Y|ZNF521_uc002kvl.2_Silent_p.Y666Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	886	C2H2-type 21; degenerate.				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)					TGTCGCAGCCGTACATAGGCT	0.532			T	PAX5	ALL							
TAF4B	6875	broad.mit.edu	37	18	23866258	23866258	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:23866258T>C	uc002kvu.3	+	7	1874	c.1385T>C	c.(1384-1386)GTA>GCA	p.V462A	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.V462A	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	462					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAACAGCAGTAACACTGTCC	0.468												
CDH2	1000	broad.mit.edu	37	18	25593645	25593645	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:25593645A>G	uc002kwg.2	-	3	858	c.399_splice	c.e3+1	p.K133_splice	CDH2_uc010xbn.1_Splice_Site_p.K102_splice	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein						adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CGGATACTATACCTTCACTGA	0.408												
MCART2	147407	broad.mit.edu	37	18	29340013	29340013	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29340013T>C	uc002kxa.2	-	1	831	c.612A>G	c.(610-612)GCA>GCG	p.A204A		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	204					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			TGTGAGTCGTTGCGGTAGGCA	0.448												
KIAA1012	22878	broad.mit.edu	37	18	29429584	29429584	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29429584A>G	uc002kxc.3	-	25	4044	c.3680T>C	c.(3679-3681)GTG>GCG	p.V1227A	KIAA1012_uc002kxb.3_Missense_Mutation_p.V1173A|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1227					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						AATCAATCTCACAGCATCCTC	0.358												
KLHL14	57565	broad.mit.edu	37	18	30260415	30260415	+	Silent	SNP	C	C	T	rs145852832	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:30260415C>T	uc002kxm.1	-	6	1774	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	KLHL14_uc010dmd.1_Missense_Mutation_p.R10Q	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	462	Kelch 3.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGCATGAGCCGCCAGAGGCT	0.468												
MOCOS	55034	broad.mit.edu	37	18	33836952	33836952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:33836952C>T	uc002kzq.3	+	12	2209	c.2186C>T	c.(2185-2187)GCC>GTC	p.A729V		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	729	MOSC.				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)	GGTACAATGGCCACCCTTTCT	0.413												
MOCOS	55034	broad.mit.edu	37	18	33848583	33848583	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:33848583T>C	uc002kzq.3	+	15	2625	c.2602T>C	c.(2602-2604)TTG>CTG	p.L868L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	868					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)	GCTCCCTGTGTTGAAAGAGAA	0.403												
KIAA1328	57536	broad.mit.edu	37	18	34753044	34753044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34753044G>A	uc002kzz.2	+	9	1545	c.1523G>A	c.(1522-1524)CGG>CAG	p.R508Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R260H|KIAA1328_uc002lac.1_Missense_Mutation_p.R367Q|KIAA1328_uc010dnc.1_RNA	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	508										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		ACCACCTCCCGGTAAGCTTCA	0.388												
CELF4	56853	broad.mit.edu	37	18	34854302	34854302	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34854302A>G	uc002lae.2	-	6	1169	c.773T>C	c.(772-774)TTC>TCC	p.F258S	CELF4_uc010dnd.1_Missense_Mutation_p.F257S|CELF4_uc002lag.2_Missense_Mutation_p.F248S|CELF4_uc002laf.2_Missense_Mutation_p.F253S|CELF4_uc002lai.2_Missense_Mutation_p.F243S|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Silent_p.F93F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	258	Sufficient for RNA-binding and MSE- dependent splicing activity.|Necessary for TNNT2 exon 5 inclusion.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GTAGGCCCCGAAAGGGATGGC	0.637												
KIAA0427	9811	broad.mit.edu	37	18	46385820	46385820	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:46385820A>G	uc002ldc.2	+	12	1972	c.1687A>G	c.(1687-1689)ACC>GCC	p.T563A	KIAA0427_uc002ldd.2_Missense_Mutation_p.T565A|KIAA0427_uc002lde.3_Missense_Mutation_p.T192A	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	563	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GTCCATGCTGACCCGGTCGCT	0.602												
CXXC1	30827	broad.mit.edu	37	18	47812265	47812265	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:47812265A>T	uc002leq.3	-	5	1226	c.493T>A	c.(493-495)TCA>ACA	p.S165T	CXXC1_uc002lep.3_Missense_Mutation_p.S22T|CXXC1_uc002ler.3_Missense_Mutation_p.S165T|CXXC1_uc010doy.2_Missense_Mutation_p.S165T|CXXC1_uc002les.2_Missense_Mutation_p.S165T	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	165	CXXC-type.				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ATGCGGGCTGACCGTTTGATc	0.483												
DCC	1630	broad.mit.edu	37	18	50985668	50985668	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:50985668T>C	uc002lfe.1	+	24	4046	c.3459T>C	c.(3457-3459)CTT>CTC	p.L1153L	DCC_uc010dpf.1_Silent_p.L788L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1153	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCCTGATCTTTGGATCCATC	0.498												
DCC	1630	broad.mit.edu	37	18	50985691	50985691	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:50985691A>G	uc002lfe.1	+	24	4069	c.3482A>G	c.(3481-3483)GAG>GGG	p.E1161G	DCC_uc010dpf.1_Missense_Mutation_p.E796G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1161	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGAAATGGAGATGAAAAAT	0.522												
DCC	1630	broad.mit.edu	37	18	51025784	51025784	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:51025784A>G	uc002lfe.1	+	27	4602	c.4015A>G	c.(4015-4017)ACT>GCT	p.T1339A	DCC_uc010dpf.1_Missense_Mutation_p.T972A	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1339	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCGACCAACTCACCCACT	0.522												
ONECUT2	9480	broad.mit.edu	37	18	55103632	55103632	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55103632C>T	uc002lgo.2	+	1	716	c.684C>T	c.(682-684)GCC>GCT	p.A228A		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	228					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCCCGCTGGCCGCCACGCCGC	0.672												
ATP8B1	5205	broad.mit.edu	37	18	55322536	55322536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55322536G>A	uc002lgw.2	-	22	2821	c.2821C>T	c.(2821-2823)CGA>TGA	p.R941*	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	941	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TAAGACCATCGGCCATGCACC	0.433									Byler_disease			
ATP8B1	5205	broad.mit.edu	37	18	55355665	55355665	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55355665G>A	uc002lgw.2	-	12	1295	c.1295C>T	c.(1294-1296)ACA>ATA	p.T432I	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	432	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TTTTGCGGGTGTGTCCTTCTC	0.458									Byler_disease			
ZNF532	55205	broad.mit.edu	37	18	56651514	56651514	+	Missense_Mutation	SNP	G	G	T	rs150751424		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56651514G>T	uc002lho.2	+	11	4269	c.3722G>T	c.(3721-3723)GGG>GTG	p.G1241V	ZNF532_uc002lhp.2_Missense_Mutation_p.G1239V|ZNF532_uc010xeg.1_Missense_Mutation_p.G1239V|ZNF532_uc002lhr.2_Missense_Mutation_p.G1239V|ZNF532_uc002lhs.2_Missense_Mutation_p.G1239V|ZNF532_uc010xeh.1_Missense_Mutation_p.G329V	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AATGGGGCTGGGGAAGATAAC	0.512												
RAX	30062	broad.mit.edu	37	18	56939715	56939715	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56939715T>C	uc002lhx.2	-	2	608	c.421A>G	c.(421-423)ACG>GCG	p.T141A	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	141	Homeobox.				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GTGAAAGTCGTGCGGTTCCGC	0.652												
LMAN1	3998	broad.mit.edu	37	18	56998753	56998753	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:56998753T>C	uc002lhz.2	-	12	1425	c.1393A>G	c.(1393-1395)AAA>GAA	p.K465E		NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	465	Lumenal (Potential).				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTGGGCATTTCGGCTTTTCA	0.328												
MC4R	4160	broad.mit.edu	37	18	58038674	58038674	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:58038674T>C	uc002lie.1	-	1	1328	c.909A>G	c.(907-909)GCA>GCG	p.A303A		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	303	Helical; Name=7; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				GACTCCGGAGTGCATAAATCA	0.418												
TNFRSF11A	8792	broad.mit.edu	37	18	60017167	60017167	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60017167A>G	uc002lin.2	+	3	318	c.280A>G	c.(280-282)ACA>GCA	p.T94A	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T94A	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	94	TNFR-Cys 2.|Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				AGTTTGTGATACAGGTGAGCC	0.443									Paget_Disease_of_Bone			
PHLPP1	23239	broad.mit.edu	37	18	60630645	60630645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60630645C>T	uc002lis.2	+	15	2142	c.1964C>T	c.(1963-1965)GCT>GTT	p.A655V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1167	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						ACAGGAGACGCTTCCGGAGCC	0.443												
BCL2	596	broad.mit.edu	37	18	60985517	60985517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:60985517C>T	uc002lit.1	-	2	876	c.383G>A	c.(382-384)GGA>GAA	p.G128E	BCL2_uc002liu.1_Missense_Mutation_p.G128E|BCL2_uc002liv.1_Missense_Mutation_p.G128E	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	128					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)	GGCAAAGCGTCCCCGCGCGGT	0.667			T	IGH@	NHL|CLL							
VPS4B	9525	broad.mit.edu	37	18	61067315	61067315	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61067315A>G	uc002lix.2	-	7	1016	c.756T>C	c.(754-756)CGT>CGC	p.R252R	VPS4B_uc010dpx.2_Silent_p.R252R|VPS4B_uc010dpy.2_Silent_p.R134R|VPS4B_uc010dpz.1_Silent_p.R134R	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	252					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						TCTTAATTCTACGTGCGGCTT	0.294												
SERPINB5	5268	broad.mit.edu	37	18	61166407	61166407	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61166407A>T	uc002liz.3	+	6	764	c.622A>T	c.(622-624)AAC>TAC	p.N208Y		NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	208					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1						CTGTATGGGAAACATTGACAG	0.393												
SERPINB4	6318	broad.mit.edu	37	18	61306899	61306899	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61306899T>C	uc002ljf.2	-	6	667	c.581A>G	c.(580-582)AAC>AGC	p.N194S	SERPINB4_uc002lje.2_Missense_Mutation_p.N194S|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	194					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						CTCTTTAGTGTTTTCTTTTTT	0.313												
SERPINB7	8710	broad.mit.edu	37	18	61471659	61471659	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61471659T>C	uc002ljl.2	+	8	1029	c.933T>C	c.(931-933)GCT>GCC	p.A311A	SERPINB7_uc002ljm.2_Silent_p.A311A|SERPINB7_uc010xet.1_Silent_p.A294A|SERPINB7_uc010dqg.2_Silent_p.A311A	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	311					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				CTGGGATTGCTTCGGGGGGTC	0.428												
DSEL	92126	broad.mit.edu	37	18	65178220	65178220	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:65178220T>A	uc002lke.1	-	2	4880	c.3656A>T	c.(3655-3657)AAG>ATG	p.K1219M		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1209						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GTCCATAAACTTTGGATATCC	0.353												
NETO1	81832	broad.mit.edu	37	18	70534507	70534507	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:70534507A>G	uc002lkw.2	-	1	304	c.20T>C	c.(19-21)GTG>GCG	p.V7A	NETO1_uc002lkx.1_5'Flank|NETO1_uc002lky.1_Missense_Mutation_p.V7A|NETO1_uc002lkz.2_5'Flank	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	7					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACTGTGAAGCACGCTGCGCCC	0.662												
ZNF407	55628	broad.mit.edu	37	18	72347183	72347183	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72347183C>A	uc002llw.2	+	1	4265	c.4208C>A	c.(4207-4209)TCT>TAT	p.S1403Y	ZNF407_uc010xfc.1_Missense_Mutation_p.S1403Y|ZNF407_uc010dqu.1_Missense_Mutation_p.S1403Y|ZNF407_uc002llu.2_Missense_Mutation_p.S1402Y	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1403					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)		AAGAAGAAATCTGAGGGCAGT	0.463												
TSHZ1	10194	broad.mit.edu	37	18	72998600	72998600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72998600C>T	uc002lly.2	+	2	1666	c.1103C>T	c.(1102-1104)GCG>GTG	p.A368V		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	413						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCCCGCAAGGCGCAGATCCTC	0.602												
ZNF516	9658	broad.mit.edu	37	18	74154821	74154821	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74154821A>G	uc010dqx.1	-	2	425	c.190T>C	c.(190-192)TGT>CGT	p.C64R	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	64	C2H2-type 2.				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)		CAGTAGGGACACTTGTAGGGC	0.627												
ZNF236	7776	broad.mit.edu	37	18	74592191	74592191	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74592191G>A	uc002lmi.2	+	8	1299	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.P367P	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	367					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)		TCTCAGAGCCGGCGCCGGTGG	0.647												
ZNF236	7776	broad.mit.edu	37	18	74631811	74631811	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:74631811G>A	uc002lmi.2	+	20	3546	c.3348G>A	c.(3346-3348)ACG>ACA	p.T1116T	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1116					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)		TCACTTTCACGGAGGAGGAGA	0.527												
ADNP2	22850	broad.mit.edu	37	18	77894254	77894254	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:77894254A>G	uc002lnw.2	+	4	1413	c.958A>G	c.(958-960)ACT>GCT	p.T320A		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	320	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGAAGCCTCACTCATTCCCC	0.637												
ADNP2	22850	broad.mit.edu	37	18	77895696	77895696	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:77895696T>C	uc002lnw.2	+	4	2855	c.2400T>C	c.(2398-2400)CCT>CCC	p.P800P		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	800					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGAAGTTGCCTATGGATTATA	0.468												
THEG	51298	broad.mit.edu	37	19	375883	375883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:375883G>A	uc002lol.2	-	1	127	c.88C>T	c.(88-90)CGT>TGT	p.R30C	THEG_uc002lom.2_Missense_Mutation_p.R30C	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	30					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGAGGCCACGGGGGTCGCCG	0.657												
PALM	5064	broad.mit.edu	37	19	736048	736048	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:736048A>G	uc002lpm.1	+	7	666	c.472A>G	c.(472-474)ACG>GCG	p.T158A	PALM_uc002lpn.1_Missense_Mutation_p.T158A|PALM_uc010xfu.1_Missense_Mutation_p.T23A	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	158					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GCCCCTGAGGACGGTTGACGG	0.662												
AZU1	566	broad.mit.edu	37	19	828274	828274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:828274C>T	uc002lpz.1	+	2	119	c.103C>T	c.(103-105)CCC>TCC	p.P35S		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	35	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAAGGCGAGGCCCCGCCAGTT	0.657												
ABCA7	10347	broad.mit.edu	37	19	1055276	1055276	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1055276A>C	uc002lqw.3	+	30	4362	c.4131A>C	c.(4129-4131)GAA>GAC	p.E1377D	ABCA7_uc010dsb.1_Missense_Mutation_p.E1239D|ABCA7_uc002lqy.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1377	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCTCTGGGGAAGTGGTTCAGA	0.692												
HMHA1	23526	broad.mit.edu	37	19	1080015	1080015	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1080015A>G	uc002lqz.1	+	13	1832	c.1601A>G	c.(1600-1602)TAT>TGT	p.Y534C	HMHA1_uc010xgd.1_Missense_Mutation_p.Y550C|HMHA1_uc010xge.1_Missense_Mutation_p.Y374C|HMHA1_uc002lra.1_Missense_Mutation_p.Y374C|HMHA1_uc002lrb.1_Missense_Mutation_p.Y417C|HMHA1_uc002lrc.1_Missense_Mutation_p.Y169C|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	534					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGCAAGCTGTATGACCCAGGC	0.642												
DAZAP1	26528	broad.mit.edu	37	19	1434841	1434841	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1434841C>T	uc002lsn.2	+	12	1343	c.1154C>T	c.(1153-1155)CCC>CTC	p.P385L	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Missense_Mutation_p.P384L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P384L	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	385	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggggcccccccgccggcggc	0.597												
ADAMTSL5	339366	broad.mit.edu	37	19	1506599	1506599	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1506599G>A	uc002ltd.2	-	11	1548	c.1104C>T	c.(1102-1104)GGC>GGT	p.G368G	ADAMTSL5_uc010dsl.2_Silent_p.G137G|ADAMTSL5_uc010xgq.1_Silent_p.G378G	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	368	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CAAAGTCACTGCCGCAATAGT	0.637												
MBD3	53615	broad.mit.edu	37	19	1585130	1585130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1585130C>T	uc002ltl.1	-	2	216	c.194G>A	c.(193-195)CGC>CAC	p.R65H	MBD3_uc002ltj.2_Missense_Mutation_p.R65H|MBD3_uc002ltk.2_Missense_Mutation_p.R33H	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	65	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCCCGTGCGGAAGTCGAA	0.657												
TCF3	6929	broad.mit.edu	37	19	1615419	1615419	+	Missense_Mutation	SNP	G	G	A	rs148304557		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1615419G>A	uc002ltr.2	-	18	1754	c.1687C>T	c.(1687-1689)CGT>TGT	p.R563C	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R324C|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R567C|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	563	Helix-loop-helix motif.			RVR->GVG: No DNA-binding.|R->K: No DNA-binding.	B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TTGATGTCACGGACCCGCAGC	0.647			T	PBX1|HLF|TFPT	pre B-ALL							
ADAT3	113179	broad.mit.edu	37	19	1913109	1913109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:1913109G>A	uc002luh.2	+	2	1243	c.1015G>A	c.(1015-1017)GTG>ATG	p.V339M	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	339					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|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)		GTTCCGCGGGGTGCTGGAGGA	0.746												
DOT1L	84444	broad.mit.edu	37	19	2226522	2226522	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2226522T>C	uc002lvb.3	+	27	4038	c.4002T>C	c.(4000-4002)GGT>GGC	p.G1334G	DOT1L_uc002lvc.1_Silent_p.G628G	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		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)		TCAGTGATGGTGCTTCTCTTC	0.701												
TMPRSS9	360200	broad.mit.edu	37	19	2408461	2408461	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2408461T>G	uc010xgx.1	+	7	848	c.848T>G	c.(847-849)CTG>CGG	p.L283R	TMPRSS9_uc002lvv.1_Missense_Mutation_p.L317R	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	283	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		AAGCACCCCCTGTACAACGCG	0.687												
LMNB2	84823	broad.mit.edu	37	19	2434861	2434861	+	Silent	SNP	C	C	T	rs144417417		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2434861C>T	uc002lvy.2	-	6	933	c.846G>A	c.(844-846)GCG>GCA	p.A282A	LMNB2_uc002lwa.1_Silent_p.A302A	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	282	Rod.|Coil 2.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		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)		CCTCGCGAGCCGCACTGGCCG	0.582												
GNA11	2767	broad.mit.edu	37	19	3121149	3121149	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3121149T>C	uc002lxd.2	+	7	1294	c.1052T>C	c.(1051-1053)CTC>CCC	p.L351P	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	351					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.L351L(1)		eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ATCCTGCAGCTCAACCTCAAG	0.627			Mis		uveal melanoma							
C19orf28	126321	broad.mit.edu	37	19	3551146	3551146	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3551146G>A	uc002lxz.2	-	2	515	c.345C>T	c.(343-345)TGC>TGT	p.C115C	C19orf28_uc002lxw.2_Silent_p.C115C|C19orf28_uc002lxx.2_Silent_p.C115C|C19orf28_uc002lxy.2_Silent_p.C106C	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	115	Helical; (Potential).				transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGCCCAGGCAGGGGCTGA	0.667												
C19orf29	58509	broad.mit.edu	37	19	3613205	3613205	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3613205A>G	uc002lyh.2	-	9	1690	c.1637T>C	c.(1636-1638)CTG>CCG	p.L546P	C19orf29_uc010xho.1_Missense_Mutation_p.L5P|C19orf29_uc010dtn.2_Missense_Mutation_p.L394P|C19orf29_uc002lyi.3_Missense_Mutation_p.L546P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	546						catalytic step 2 spliceosome	protein binding				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)		CTGCTGGATCAGGTCCTCCTC	0.726												
PIP5K1C	23396	broad.mit.edu	37	19	3641737	3641737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:3641737C>T	uc002lyj.1	-	15	1810	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	PIP5K1C_uc010xhq.1_Missense_Mutation_p.V585M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V585M	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	585					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ACAATCTCCACGCTGCACGCA	0.672												
PIAS4	51588	broad.mit.edu	37	19	4013158	4013158	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4013158A>G	uc002lzg.2	+	2	275	c.265A>G	c.(265-267)ACC>GCC	p.T89A		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	89					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCACTCCACCTACGACCG	0.627												
CREB3L3	84699	broad.mit.edu	37	19	4171861	4171861	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4171861T>C	uc002lzl.2	+	10	1397	c.1281T>C	c.(1279-1281)AAT>AAC	p.N427N	CREB3L3_uc002lzm.2_Silent_p.N417N|CREB3L3_uc010xib.1_Silent_p.N416N|CREB3L3_uc010xic.1_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	427	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGAGGAATGCAACAGAGG	0.687												
SH3GL1	6455	broad.mit.edu	37	19	4361738	4361738	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4361738G>A	uc002maj.2	-	10	1072	c.966C>T	c.(964-966)GAC>GAT	p.D322D	SH3GL1_uc002mak.2_Silent_p.D258D|SH3GL1_uc010xig.1_Silent_p.D274D	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	322	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCAGCTCCCCGTCGTTCTCGG	0.672			T	MLL	AL							
CHAF1A	10036	broad.mit.edu	37	19	4433467	4433467	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4433467G>A	uc002mal.2	+	13	2704	c.2604G>A	c.(2602-2604)TCG>TCA	p.S868S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	868	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCATCTCGCTGAAGAGGA	0.657								Chromatin_Structure				
LRG1	116844	broad.mit.edu	37	19	4538098	4538098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4538098G>A	uc002mau.2	-	2	909	c.898C>T	c.(898-900)CCC>TCC	p.P300S	PLIN5_uc002mas.2_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	300	LRRCT.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATCCAGGGGTTGCCGGAG	0.587												
DPP9	91039	broad.mit.edu	37	19	4683528	4683528	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4683528G>A	uc002mba.2	-	19	2550	c.2292C>T	c.(2290-2292)CTC>CTT	p.L764L		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	735					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCATGAGCGAGAGGAAGCCCC	0.652												
FEM1A	55527	broad.mit.edu	37	19	4792751	4792751	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4792751A>G	uc002mbf.2	+	1	1024	c.885A>G	c.(883-885)GAA>GAG	p.E295E	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	295					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCAGCCGGGAAGCTGCCGTGG	0.607												
TICAM1	148022	broad.mit.edu	37	19	4817394	4817394	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:4817394C>T	uc002mbi.2	-	2	1247	c.996G>A	c.(994-996)ACG>ACA	p.T332T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	332	Pro-rich.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTTGGAGTGGCGTCTGGTCTT	0.517												
LONP1	9361	broad.mit.edu	37	19	5700824	5700824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5700824C>T	uc002mcx.2	-	9	1515	c.1482G>A	c.(1480-1482)ATG>ATA	p.M494I	LONP1_uc002mcy.2_Missense_Mutation_p.M430I|LONP1_uc010duh.2_Missense_Mutation_p.M235I|LONP1_uc010dui.2_Missense_Mutation_p.M478I|LONP1_uc002mcz.2_Missense_Mutation_p.M298I	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	494					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TGACGTCCTCCATGCCGTAGT	0.602												
TMEM146	257062	broad.mit.edu	37	19	5739377	5739377	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5739377A>G	uc002mda.2	+	7	561	c.500A>G	c.(499-501)CAG>CGG	p.Q167R	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	167	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CGTGGAGATCAGATATCCCAG	0.244												
PRR22	163154	broad.mit.edu	37	19	5784045	5784045	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:5784045G>A	uc002mdb.1	-	1	566	c.207C>T	c.(205-207)TGC>TGT	p.C69C	PRR22_uc010xiv.1_Silent_p.C71C	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	69											0						AGAAGCACCCGCATGGGGCCA	0.677												
C3	718	broad.mit.edu	37	19	6707497	6707497	+	Missense_Mutation	SNP	G	G	A	rs139945572		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:6707497G>A	uc002mfm.2	-	16	2089	c.2027C>T	c.(2026-2028)ACG>ATG	p.T676M		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	676					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCGCTTCTCCGTGAGCTGCAC	0.667												
ZNF557	79230	broad.mit.edu	37	19	7075715	7075715	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7075715C>T	uc002mgb.2	+	4	545	c.60C>T	c.(58-60)GGC>GGT	p.G20G	ZNF557_uc002mga.2_Silent_p.G27G|ZNF557_uc002mgc.2_Silent_p.G27G	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		ACACAGAGGGCGGAGAGCTGG	0.517												
MCOLN1	57192	broad.mit.edu	37	19	7589892	7589892	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7589892C>T	uc002mgo.2	+	2	202	c.77C>T	c.(76-78)GCG>GTG	p.A26V	MCOLN1_uc010dvh.1_Missense_Mutation_p.A26V|MCOLN1_uc002mgp.2_5'UTR	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	26					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						GGGACCCAGGCGGGGCCTTCA	0.622												
XAB2	56949	broad.mit.edu	37	19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:7684859C>T	uc002mgx.2	-	17	2395	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GCTCTGGGCGCGCAAGGGCTG	0.672								Direct_reversal_of_damage|NER				
ELAVL1	1994	broad.mit.edu	37	19	8028431	8028431	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8028431T>C	uc002mjb.2	-	6	1084	c.917A>G	c.(916-918)AAC>AGC	p.N306S		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	306	RRM 3.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GCGGTAGCCGTTCAGGCTGGC	0.458												
FBN3	84467	broad.mit.edu	37	19	8137979	8137979	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8137979G>A	uc002mjf.2	-	61	7926	c.7905C>T	c.(7903-7905)GGC>GGT	p.G2635G	FBN3_uc002mje.2_Silent_p.G431G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2635	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTTGAGGACAGCCGCACAGGA	0.612												
FBN3	84467	broad.mit.edu	37	19	8196449	8196449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8196449G>A	uc002mjf.2	-	14	2000	c.1979C>T	c.(1978-1980)GCC>GTC	p.A660V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	660	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGAGTCTTTGGCAGGACAAAG	0.642												
ANGPTL4	51129	broad.mit.edu	37	19	8436327	8436327	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8436327C>T	uc002mjq.1	+	6	1155	c.960C>T	c.(958-960)AGC>AGT	p.S320S	ANGPTL4_uc002mjr.1_Silent_p.S282S|ANGPTL4_uc010xkc.1_Silent_p.S153S	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4 protein isoform a precursor	320	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			ovary(1)	1						TCCCACCCAGCGGCCTCTCCG	0.672												
PRAM1	84106	broad.mit.edu	37	19	8563852	8563852	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8563852G>A	uc002mkd.2	-	2	860	c.840C>T	c.(838-840)GAC>GAT	p.D280D	PRAM1_uc002mkc.2_Silent_p.D280D	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	328	Pro-rich.						lipid binding|protein binding				0						TCTTGGGAAAGTCACTCAGCG	0.657												
ADAMTS10	81794	broad.mit.edu	37	19	8668717	8668717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:8668717C>T	uc002mkj.1	-	5	761	c.487G>A	c.(487-489)GGT>AGT	p.G163S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	163					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TTGGGCCCACCGTGCAGGGGC	0.587												
MUC16	94025	broad.mit.edu	37	19	9048747	9048747	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9048747T>C	uc002mkp.2	-	5	33088	c.32884A>G	c.(32884-32886)ACA>GCA	p.T10962A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10964	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						ATTGAAGGTGTGGTCTCTGGT	0.498												
MUC16	94025	broad.mit.edu	37	19	9056901	9056901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9056901G>A	uc002mkp.2	-	3	30749	c.30545C>T	c.(30544-30546)ACA>ATA	p.T10182I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10184	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						ATTTGTTGGTGTGACTGAGCT	0.458												
MUC16	94025	broad.mit.edu	37	19	9063940	9063940	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9063940A>T	uc002mkp.2	-	3	23710	c.23506T>A	c.(23506-23508)TCC>ACC	p.S7836T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7838	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						GAGCCGCTGGACTCCCTCAAT	0.542												
MUC16	94025	broad.mit.edu	37	19	9066859	9066859	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9066859T>C	uc002mkp.2	-	3	20791	c.20587A>G	c.(20587-20589)ACC>GCC	p.T6863A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6865	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						TCATGTGAGGTACTGCTCAAA	0.493												
MUC16	94025	broad.mit.edu	37	19	9075275	9075275	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9075275T>C	uc002mkp.2	-	3	12375	c.12171A>G	c.(12169-12171)ATA>ATG	p.I4057M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4059	Thr-rich.|Extracellular (Potential).|Ser-rich.				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						ATGAGCTGGATATTCTCTTAG	0.498												
MUC16	94025	broad.mit.edu	37	19	9084585	9084585	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9084585T>C	uc002mkp.2	-	1	7434	c.7230A>G	c.(7228-7230)TCA>TCG	p.S2410S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2410	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						GGGGTCTATCTGAAGAGAAGA	0.478												
ZNF317	57693	broad.mit.edu	37	19	9270967	9270967	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9270967T>C	uc002mku.2	+	7	921	c.646T>C	c.(646-648)TAC>CAC	p.Y216H	ZNF317_uc002mkv.2_Missense_Mutation_p.Y75H|ZNF317_uc002mkw.2_Missense_Mutation_p.Y184H|ZNF317_uc002mkx.2_Missense_Mutation_p.Y131H|ZNF317_uc002mky.2_Missense_Mutation_p.Y99H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGAGCATGTACGACGGGAG	0.587												
ZNF559	84527	broad.mit.edu	37	19	9452554	9452554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:9452554G>A	uc002mlg.2	+	7	1074	c.427G>A	c.(427-429)GGA>AGA	p.G143R	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.G135R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.G207R|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTGATATCGGAGAGGAACT	0.363												
KRI1	65095	broad.mit.edu	37	19	10670348	10670348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10670348G>A	uc002moy.1	-	11	991	c.982C>T	c.(982-984)CGC>TGC	p.R328C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R324C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	328	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTACGGCGCACGGAGGAC	0.622												
KRI1	65095	broad.mit.edu	37	19	10670512	10670512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10670512G>A	uc002moy.1	-	10	928	c.919C>T	c.(919-921)CGT>TGT	p.R307C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R303C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	307	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTCGAAACGGAAATTGTAC	0.607												
ILF3	3609	broad.mit.edu	37	19	10791697	10791697	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10791697C>T	uc002mpn.2	+	10	1277	c.960C>T	c.(958-960)CAC>CAT	p.H320H	ILF3_uc002mpm.2_Silent_p.H320H|ILF3_uc002mpl.2_Silent_p.H320H|ILF3_uc002mpk.2_Silent_p.H320H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.H320H|ILF3_uc002mpp.2_Silent_p.H141H	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	320	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)			TTCTCCAGCACGCACTGCGGC	0.592												
KANK2	25959	broad.mit.edu	37	19	11304581	11304581	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11304581G>C	uc010dxv.2	-	6	733	c.175C>G	c.(175-177)CTG>GTG	p.L59V	KANK2_uc002mqm.2_Missense_Mutation_p.L59V|KANK2_uc002mqo.3_Missense_Mutation_p.L59V|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Missense_Mutation_p.L59V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	59											0						ACGCGTCGCAGCGTGTGGCCC	0.667												
DOCK6	57572	broad.mit.edu	37	19	11319449	11319449	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11319449G>A	uc002mqs.3	-	39	5042	c.5001C>T	c.(4999-5001)CCC>CCT	p.P1667P	DOCK6_uc002mqr.3_Silent_p.P65P|DOCK6_uc010xlq.1_Silent_p.P1006P	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1667	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCTCCTCGTCGGGCGACAGGA	0.627												
DOCK6	57572	broad.mit.edu	37	19	11333573	11333573	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11333573C>T	uc002mqs.3	-	26	3119	c.3078G>A	c.(3076-3078)ACG>ACA	p.T1026T	DOCK6_uc010xlq.1_Silent_p.T365T	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1026					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACTGGAGCCGCGTGGCCACCT	0.632												
DOCK6	57572	broad.mit.edu	37	19	11361698	11361698	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11361698A>G	uc002mqs.3	-	6	613	c.572T>C	c.(571-573)ATC>ACC	p.I191T		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	191					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CAGGTCGAAGATGCTAGAGGC	0.622												
CCDC151	115948	broad.mit.edu	37	19	11531591	11531591	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11531591T>C	uc002mrs.2	-	13	1843	c.1700A>G	c.(1699-1701)AAC>AGC	p.N567S	CCDC151_uc002mrr.2_Missense_Mutation_p.N502S|CCDC151_uc010dxz.2_Missense_Mutation_p.N507S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	567										ovary(1)	1						CACTACCTCGTTGTCCTCCTC	0.577												
CNN1	1264	broad.mit.edu	37	19	11651959	11651959	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11651959T>C	uc002msc.1	+	2	296	c.132T>C	c.(130-132)CGT>CGC	p.R44R	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	44	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						TGACAGGCCGTCGCATCGGCA	0.617												
ZNF441	126068	broad.mit.edu	37	19	11891889	11891889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11891889A>G	uc010dyj.2	+	4	1444	c.1250A>G	c.(1249-1251)AAG>AGG	p.K417R	ZNF441_uc002msn.3_Missense_Mutation_p.K373R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ACTGGAGAGAAGCCATATAAA	0.363												
ZNF439	90594	broad.mit.edu	37	19	11979050	11979050	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:11979050A>G	uc002mss.2	+	3	1294	c.1166A>G	c.(1165-1167)AAA>AGA	p.K389R	ZNF439_uc002msr.2_Missense_Mutation_p.K253R	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	389	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAATGTGGTAAAGCCTTCACT	0.428												
ZNF700	90592	broad.mit.edu	37	19	12060478	12060478	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12060478T>C	uc002msu.2	+	4	1765	c.1639T>C	c.(1639-1641)TGT>CGT	p.C547R	ZNF700_uc010xme.1_Missense_Mutation_p.C565R|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	547	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTTCAGATGTTGCAATTC	0.428												
ZNF799	90576	broad.mit.edu	37	19	12502150	12502150	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12502150A>G	uc010dyt.2	-	4	1212	c.1062T>C	c.(1060-1062)AGT>AGC	p.S354S	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	354	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TTCTTTCATGACTTTTCAGTG	0.418												
ZNF709	163051	broad.mit.edu	37	19	12576123	12576123	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:12576123A>G	uc002mtv.3	-	4	774	c.613T>C	c.(613-615)TTC>CTC	p.F205L	ZNF709_uc002mtw.3_Missense_Mutation_p.F173L|ZNF709_uc002mtx.3_Missense_Mutation_p.F205L	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	205	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGATAAATGAAGGCCTTCCCA	0.428												
CALR	811	broad.mit.edu	37	19	13054412	13054412	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13054412A>G	uc002mvu.2	+	8	1102	c.1022A>G	c.(1021-1023)GAG>GGG	p.E341G	CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	341	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACGCTGAGGAGTTTGGCAAC	0.592												
RAD23A	5886	broad.mit.edu	37	19	13058813	13058813	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13058813T>C	uc002mvw.1	+	2	333	c.224T>C	c.(223-225)ATG>ACG	p.M75T	RAD23A_uc002mvx.1_Missense_Mutation_p.M75T|RAD23A_uc002mvz.1_Missense_Mutation_p.M75T|RAD23A_uc002mwa.1_Missense_Mutation_p.M75T|RAD23A_uc002mvy.1_5'UTR|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	75	Ubiquitin-like.				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						GTGGTCGTCATGGTGACCAAG	0.562								NER				
TRMT1	55621	broad.mit.edu	37	19	13226508	13226508	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:13226508G>A	uc002mwj.2	-	3	635	c.385C>T	c.(385-387)CTG>TTG	p.L129L	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Silent_p.L129L|TRMT1_uc002mwl.3_Silent_p.L129L|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	129							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTCTCTTTCAGTTCAACCTTT	0.572												
RFX1	5989	broad.mit.edu	37	19	14077502	14077502	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14077502C>A	uc002mxv.2	-	13	2066	c.1794G>T	c.(1792-1794)GAG>GAT	p.E598D		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	598					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCCCGACGCCCTCAGGCAGCA	0.677												
RFX1	5989	broad.mit.edu	37	19	14094383	14094383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14094383G>A	uc002mxv.2	-	3	616	c.344C>T	c.(343-345)ACA>ATA	p.T115I	RFX1_uc010dzi.2_Missense_Mutation_p.T115I	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	115					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTCCGACACTGTCTCGCTGGC	0.682												
IL27RA	9466	broad.mit.edu	37	19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14150709C>T	uc002mxx.2	+	4	944	c.521C>T	c.(520-522)GCG>GTG	p.A174V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	174	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						TGTCAGGAGGCGGCCTGGACC	0.592												
LPHN1	22859	broad.mit.edu	37	19	14271413	14271413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14271413C>T	uc010xnn.1	-	8	1917	c.1621G>A	c.(1621-1623)GCC>ACC	p.A541T	LPHN1_uc010xno.1_Missense_Mutation_p.A536T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	541	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ACCTTCTGGGCCACCTGGTTG	0.682												
DDX39	10212	broad.mit.edu	37	19	14520628	14520628	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14520628A>G	uc010xnp.1	-	7	835	c.790T>C	c.(790-792)TAC>CAC	p.Y264H	DDX39_uc002myo.2_Missense_Mutation_p.Y264H|DDX39_uc010dzl.2_RNA	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	264	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						TTGACGTAGTACTGCTGCAGG	0.562												
OR7A5	26659	broad.mit.edu	37	19	14938274	14938274	+	Silent	SNP	A	A	G	rs146377382	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14938274A>G	uc002mzw.2	-	1	1003	c.780T>C	c.(778-780)CTT>CTC	p.L260L	OR7A5_uc010xoa.1_Silent_p.L260L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						CAGCAGAACTAAGGTACACCC	0.493												
OR7A17	26333	broad.mit.edu	37	19	14991549	14991549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:14991549C>T	uc010xob.1	-	1	619	c.619G>A	c.(619-621)GCT>ACT	p.A207T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					GGACCACCAGCCAGCAGCCCT	0.478												
NOTCH3	4854	broad.mit.edu	37	19	15296182	15296182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15296182G>A	uc002nan.2	-	14	2258	c.2182C>T	c.(2182-2184)CGC>TGC	p.R728C	NOTCH3_uc002nao.1_Missense_Mutation_p.R728C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	728	Extracellular (Potential).|EGF-like 18.		R -> C (in CADASIL).		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)			TGGCTGCAGCGGGGGCCACTC	0.682												
BRD4	23476	broad.mit.edu	37	19	15367880	15367880	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15367880C>T	uc002nar.2	-	8	1668	c.1446G>A	c.(1444-1446)CCG>CCA	p.P482P	BRD4_uc002nas.2_Silent_p.P482P|BRD4_uc002nat.3_Silent_p.P482P|BRD4_uc002nau.3_Silent_p.P482P	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	482					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGATGAGGGCGGGGCCACAA	0.647			T	NUT|C15orf55	lethal midline carcinoma of young people							
OR10H2	26538	broad.mit.edu	37	19	15838975	15838975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:15838975G>A	uc002nbm.2	+	1	142	c.122G>A	c.(121-123)GGC>GAC	p.G41D		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACGCTGCTGGGCAACCTGCTC	0.582												
CYP4F11	57834	broad.mit.edu	37	19	16024702	16024702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16024702G>A	uc002nbu.2	-	13	1451	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CYP4F11_uc010eab.1_Silent_p.G450G|CYP4F11_uc002nbt.2_Missense_Mutation_p.A472V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	472					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						CATGGCGAACGCCTGCCCGAT	0.622												
EPS15L1	58513	broad.mit.edu	37	19	16515477	16515477	+	Silent	SNP	G	G	A	rs145683476		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16515477G>A	uc002ndz.1	-	14	1356	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D	EPS15L1_uc002ndx.2_Silent_p.D450D|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.D340D|EPS15L1_uc010xpf.1_Silent_p.D353D|EPS15L1_uc002nea.1_Silent_p.D450D|EPS15L1_uc010eah.1_Silent_p.D450D|EPS15L1_uc002neb.1_Silent_p.D296D|EPS15L1_uc002nec.1_Silent_p.D450D	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	450					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						GGTCCATCTCGTCCAGGCGGT	0.582												
TMEM38A	79041	broad.mit.edu	37	19	16793252	16793252	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:16793252T>C	uc002nes.2	+	4	578	c.487T>C	c.(487-489)TCC>CCC	p.S163P		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	163	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						CGCCCTCATGTCCAACTTTGA	0.557												
ANO8	57719	broad.mit.edu	37	19	17439208	17439208	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17439208C>T	uc002ngf.2	-	13	2148	c.1989G>A	c.(1987-1989)GCG>GCA	p.A663A	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	663	Glu-rich.|Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GAGCCCCCTCCGCCTCGTCGT	0.736												
UNC13A	23025	broad.mit.edu	37	19	17752329	17752329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17752329C>T	uc002nhd.2	-	21	2773	c.2773G>A	c.(2773-2775)GGG>AGG	p.G925R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	837					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						TTCACGACCCCATTGTTCTGC	0.572												
KIAA1683	80726	broad.mit.edu	37	19	18376471	18376471	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18376471C>T	uc002nin.2	-	3	2095	c.1879G>A	c.(1879-1881)GAA>AAA	p.E627K	KIAA1683_uc010ebn.2_Missense_Mutation_p.E627K|KIAA1683_uc010xqe.1_Missense_Mutation_p.E581K	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	627						mitochondrion				ovary(2)	2						CCAGCCATTTCCACTGCCACA	0.557												
CRLF1	9244	broad.mit.edu	37	19	18705140	18705140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18705140G>A	uc010ebt.1	-	7	1323	c.1129C>T	c.(1129-1131)CAC>TAC	p.H377Y		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	377					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(1)	1						CAGTACGCGTGCTTCTTGAGC	0.592												
TMEM161A	54929	broad.mit.edu	37	19	19231660	19231660	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19231660A>G	uc002nlg.2	-	11	1130	c.1100T>C	c.(1099-1101)GTC>GCC	p.V367A	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.V342A|TMEM161A_uc002nli.2_Missense_Mutation_p.V264A|TMEM161A_uc002nlj.2_Missense_Mutation_p.V242A	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	367	Extracellular (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			ATAGCAGTAGACTCGGACCAC	0.622												
CILP2	148113	broad.mit.edu	37	19	19654938	19654938	+	Silent	SNP	C	C	T	rs112868711		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19654938C>T	uc002nmv.3	+	8	1669	c.1584C>T	c.(1582-1584)AGC>AGT	p.S528S	CILP2_uc002nmw.3_Silent_p.S534S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	528						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TGGACCCCAGCGGTGAGTTCA	0.622												
GMIP	51291	broad.mit.edu	37	19	19745393	19745393	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:19745393G>A	uc002nnd.2	-	18	2124	c.2007C>T	c.(2005-2007)CGC>CGT	p.R669R	GMIP_uc010xrb.1_Silent_p.R643R|GMIP_uc010xrc.1_Silent_p.R640R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	669	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCTTCAGCGAGCGGATAACCT	0.607												
ZNF208	7757	broad.mit.edu	37	19	22155254	22155254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:22155254T>C	uc002nqp.2	-	5	2431	c.2282A>G	c.(2281-2283)TAC>TGC	p.Y761C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.373												
ZNF257	113835	broad.mit.edu	37	19	22255700	22255700	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:22255700T>A	uc010ecx.2	+	2	262	c.93T>A	c.(91-93)GAT>GAA	p.D31E	ZNF257_uc010ecy.2_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATATAGGGATGTGATGTTAG	0.398												
ZNF254	9534	broad.mit.edu	37	19	24309406	24309406	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:24309406A>G	uc002nru.2	+	4	738	c.604A>G	c.(604-606)AGC>GGC	p.S202G	ZNF254_uc010xrk.1_Missense_Mutation_p.S117G	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	202					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCAACACAAAAGCATTTATCA	0.303												
PLEKHF1	79156	broad.mit.edu	37	19	30164923	30164923	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:30164923C>T	uc002nsh.3	+	2	279	c.177C>T	c.(175-177)AAC>AAT	p.N59N	PLEKHF1_uc002nsi.3_Silent_p.N144N	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	59	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TCCTCTTTAACGACATCCTGG	0.622												
ZNF536	9745	broad.mit.edu	37	19	30934517	30934517	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:30934517A>T	uc002nsu.1	+	2	186	c.48A>T	c.(46-48)GAA>GAT	p.E16D	ZNF536_uc010edd.1_Missense_Mutation_p.E16D	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	16					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)					CGGAGCCGGAAGCTGAGCCCC	0.627												
ZNF536	9745	broad.mit.edu	37	19	31039479	31039479	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:31039479G>A	uc002nsu.1	+	4	3091	c.2953G>A	c.(2953-2955)GCC>ACC	p.A985T	ZNF536_uc010edd.1_Missense_Mutation_p.A985T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	985					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)					GCCAGATGCCGCCTCCCTCCC	0.577												
ZNF536	9745	broad.mit.edu	37	19	31040415	31040415	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:31040415T>A	uc002nsu.1	+	4	4027	c.3889T>A	c.(3889-3891)TTG>ATG	p.L1297M	ZNF536_uc010edd.1_Missense_Mutation_p.L1297M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1297					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)					GAGGCCAGACTTGTGTGGTAA	0.428												
ZNF507	22847	broad.mit.edu	37	19	32845706	32845706	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:32845706A>T	uc002nte.2	+	3	2242	c.1970A>T	c.(1969-1971)AAG>ATG	p.K657M	ZNF507_uc002ntc.2_Missense_Mutation_p.K657M|ZNF507_uc010xrn.1_Missense_Mutation_p.K657M|ZNF507_uc002ntd.2_Missense_Mutation_p.K657M	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	657	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					GGCTACATCAAGCAGCACTTA	0.502												
DPY19L3	147991	broad.mit.edu	37	19	32930061	32930061	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:32930061A>G	uc002ntg.2	+	7	816	c.640A>G	c.(640-642)AAC>GAC	p.N214D	DPY19L3_uc002nth.1_Missense_Mutation_p.N214D|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	214						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					ACTGAGGGAGAACTGGGCGCT	0.378												
ANKRD27	84079	broad.mit.edu	37	19	33113449	33113449	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:33113449A>G	uc002ntn.1	-	18	1862	c.1706T>C	c.(1705-1707)CTA>CCA	p.L569P		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	569	ANK 5.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					AGCAATGTGTAGAGGGGTGTC	0.547												
RHPN2	85415	broad.mit.edu	37	19	33499019	33499019	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:33499019A>G	uc002nuf.2	-	7	727	c.661T>C	c.(661-663)TTC>CTC	p.F221L	RHPN2_uc010xro.1_Missense_Mutation_p.F70L|RHPN2_uc002nue.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	221	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					CCAGTGTTGAACAGGACACTG	0.572												
KIAA0355	9710	broad.mit.edu	37	19	34843573	34843573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:34843573C>T	uc002nvd.3	+	14	3785	c.2926C>T	c.(2926-2928)CCA>TCA	p.P976S		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	976										ovary(1)	1	Esophageal squamous(110;0.162)					CAAAACGTGGCCACCCAAAGC	0.567												
UBA2	10054	broad.mit.edu	37	19	34945231	34945231	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:34945231A>G	uc002nvk.2	+	11	1175	c.1105A>G	c.(1105-1107)AAT>GAT	p.N369D	UBA2_uc010xrx.1_Missense_Mutation_p.N242D|UBA2_uc002nvl.2_Missense_Mutation_p.N273D	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	369					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTCAGTATGAATATGAAGAG	0.323												
SCGBL	284402	broad.mit.edu	37	19	35085248	35085248	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:35085248A>G	uc002nvn.2	-	2	100	c.78T>C	c.(76-78)GAT>GAC	p.D26D		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	26						extracellular region	binding				0						GTTTATCGATATCCAGGCAGG	0.517												
LGI4	163175	broad.mit.edu	37	19	35617396	35617396	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:35617396G>A	uc002nxx.2	-	8	1671	c.1077C>T	c.(1075-1077)CAC>CAT	p.H359H	LGI4_uc002nxy.1_Silent_p.H187H|LGI4_uc002nxz.1_Silent_p.H187H	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	359	EAR 2.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGTGCCAGGCGTGCAGGCTCT	0.716												
GAPDHS	26330	broad.mit.edu	37	19	36027760	36027760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36027760C>T	uc002oaf.1	+	2	229	c.113C>T	c.(112-114)CCC>CTC	p.P38L		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	38					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)		NADH(DB00157)	GAAGTAGAGCCCCAGCCACAA	0.587												
ATP4A	495	broad.mit.edu	37	19	36046378	36046378	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36046378C>T	uc002oal.1	-	14	2150	c.2121G>A	c.(2119-2121)CAG>CAA	p.Q707Q	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	707	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)	CCAGCTTCTGCTGGGGGCTGG	0.662												
UPK1A	11045	broad.mit.edu	37	19	36157789	36157789	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36157789C>T	uc002oaw.2	+	1	75	c.75C>T	c.(73-75)ATC>ATT	p.I25I	UPK1A_uc010eeh.2_Silent_p.I25I	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	25	Helical; (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCAATATCATTATTCTGG	0.612												
MLL4	9757	broad.mit.edu	37	19	36211882	36211882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36211882C>T	uc010eei.2	+	3	1633	c.1633C>T	c.(1633-1635)CGA>TGA	p.R545*		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	545	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACACCCCGGCGATTTATGGA	0.592												
MLL4	9757	broad.mit.edu	37	19	36221488	36221488	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36221488C>T	uc010eei.2	+	26	5247	c.5247C>T	c.(5245-5247)TGC>TGT	p.C1749C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1749	FYR N-terminal.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCGGACTGCGAGGGACGGC	0.602												
KIRREL2	84063	broad.mit.edu	37	19	36347987	36347987	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36347987G>A	uc002ocb.3	+	1	178	c.-34G>A	c.(-36--32)CAGTG>CAATG		KIRREL2_uc002obz.3_Translation_Start_Site|KIRREL2_uc002oca.3_Translation_Start_Site|KIRREL2_uc002occ.3_Translation_Start_Site|KIRREL2_uc002ocd.3_Translation_Start_Site	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c						cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)			GGGAAGGCCAGTGCGACGGCA	0.632												
APLP1	333	broad.mit.edu	37	19	36363449	36363449	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36363449T>C	uc002oce.2	+	7	1053	c.915T>C	c.(913-915)AGT>AGC	p.S305S	APLP1_uc010xsz.1_Silent_p.S266S|APLP1_uc002ocf.2_Silent_p.S305S|APLP1_uc002ocg.2_Silent_p.S208S|APLP1_uc010xta.1_Silent_p.S299S	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	305	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	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)			GGGAAATCAGTGAGCACGAGG	0.587												
APLP1	333	broad.mit.edu	37	19	36369508	36369508	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36369508A>G	uc002oce.2	+	14	1737	c.1599A>G	c.(1597-1599)GCA>GCG	p.A533A	APLP1_uc010xsz.1_Silent_p.A494A|APLP1_uc002ocf.2_Silent_p.A534A|APLP1_uc002ocg.2_Silent_p.A437A|APLP1_uc010xta.1_Silent_p.A527A	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	533	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	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)			AAGATGCTGCATCCCCTGAGA	0.338												
ZNF565	147929	broad.mit.edu	37	19	36674430	36674430	+	Silent	SNP	G	G	A	rs146738582		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:36674430G>A	uc002odn.2	-	5	546	c.438C>T	c.(436-438)CCC>CCT	p.P146P	ZNF565_uc010ees.2_Silent_p.P81P|ZNF565_uc002odo.2_Silent_p.P146P	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			GCTGGAACACGGGCATATGTC	0.478												
ZNF790	388536	broad.mit.edu	37	19	37309566	37309566	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37309566T>C	uc002oew.2	-	5	1799	c.1680A>G	c.(1678-1680)GAA>GAG	p.E560E	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCATAAGGTTCTGCATCAG	0.363												
ZNF829	374899	broad.mit.edu	37	19	37383068	37383068	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37383068T>C	uc002ofa.1	-	6	987	c.625A>G	c.(625-627)AAA>GAA	p.K209E	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGTTTTTTACCAGTGTGA	0.393												
ZNF570	148268	broad.mit.edu	37	19	37975066	37975066	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:37975066A>C	uc002ogk.1	+	5	1071	c.542A>C	c.(541-543)AAG>ACG	p.K181T	ZNF570_uc010efl.1_Missense_Mutation_p.K237T|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					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)			TGTACACAAAAGATAATCCCC	0.363												
ZNF540	163255	broad.mit.edu	37	19	38103201	38103201	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38103201A>G	uc002ogq.2	+	5	1352	c.1020A>G	c.(1018-1020)GGA>GGG	p.G340G	ZNF540_uc002ogu.2_Silent_p.G340G|ZNF540_uc010efq.2_Silent_p.G308G	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	340	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTATGCGGACAACTTACCC	0.353												
ZNF781	163115	broad.mit.edu	37	19	38160950	38160950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38160950C>T	uc002ogy.2	-	4	842	c.100G>A	c.(100-102)GAA>AAA	p.E34K	ZNF781_uc002ogz.2_Missense_Mutation_p.E29K	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATCTGACATTCATAGGGTTTC	0.378												
SIPA1L3	23094	broad.mit.edu	37	19	38621343	38621343	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38621343A>G	uc002ohk.2	+	10	3583	c.3074A>G	c.(3073-3075)GAC>GGC	p.D1025G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1025	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGATGATCGACCTGCTGCGC	0.632												
DPF1	8193	broad.mit.edu	37	19	38713211	38713211	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38713211A>G	uc002ohl.2	-	2	275	c.248T>C	c.(247-249)ATG>ACG	p.M83T	DPF1_uc002ohm.2_Missense_Mutation_p.M83T|DPF1_uc002ohn.2_Missense_Mutation_p.M1T|DPF1_uc010xtu.1_Missense_Mutation_p.M57T|DPF1_uc010xtv.1_Missense_Mutation_p.M57T|DPF1_uc010xtw.1_Missense_Mutation_p.M57T	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	83					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTCTTCTCCATCCAGATGTA	0.557												
DPF1	8193	broad.mit.edu	37	19	38713250	38713250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38713250G>A	uc002ohl.2	-	2	236	c.209C>T	c.(208-210)TCG>TTG	p.S70L	DPF1_uc002ohm.2_Missense_Mutation_p.S70L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Missense_Mutation_p.S44L|DPF1_uc010xtv.1_Missense_Mutation_p.S44L|DPF1_uc010xtw.1_Missense_Mutation_p.S44L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	70					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCGGTCTGCGAGTCGAGGAA	0.632												
RYR1	6261	broad.mit.edu	37	19	38934419	38934419	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38934419T>G	uc002oit.2	+	5	537	c.407T>G	c.(406-408)CTG>CGG	p.L136R	RYR1_uc002oiu.2_Missense_Mutation_p.L136R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	136	Cytoplasmic.|MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATGTGGGACTGCAGGAGGAC	0.622												
RYR1	6261	broad.mit.edu	37	19	38948774	38948774	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:38948774T>C	uc002oit.2	+	18	2139	c.2009T>C	c.(2008-2010)GTG>GCG	p.V670A	RYR1_uc002oiu.2_Missense_Mutation_p.V670A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	670	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGACGAGGTGACTCCATTT	0.647												
RYR1	6261	broad.mit.edu	37	19	39002913	39002913	+	Missense_Mutation	SNP	G	G	A	rs145044872	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39002913G>A	uc002oit.2	+	63	9392	c.9262G>A	c.(9262-9264)GTG>ATG	p.V3088M	RYR1_uc002oiu.2_Missense_Mutation_p.V3088M|RYR1_uc002oiv.1_Missense_Mutation_p.V8M|RYR1_uc010xuf.1_Missense_Mutation_p.V8M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3088	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGAGATCGTGAAGGCTGG	0.627												
RYR1	6261	broad.mit.edu	37	19	39051818	39051818	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39051818G>A	uc002oit.2	+	90	12478	c.12348G>A	c.(12346-12348)GCG>GCA	p.A4116A	RYR1_uc002oiu.2_Silent_p.A4111A|RYR1_uc002oiv.1_Silent_p.A1025A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4116					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTCCGAAGCGGATGAGAACG	0.602												
ACTN4	81	broad.mit.edu	37	19	39214810	39214810	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39214810C>T	uc002oja.1	+	15	1765	c.1706C>T	c.(1705-1707)GCC>GTC	p.A569V	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	569	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGATCTCAGCCCATGACCAG	0.662												
CAPN12	147968	broad.mit.edu	37	19	39232471	39232471	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39232471C>T	uc002ojd.1	-	4	815	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	169	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTCCGAGCGCACGAACAT	0.627												
HNRNPL	3191	broad.mit.edu	37	19	39336661	39336661	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39336661G>A	uc010xul.1	-	3	467	c.456C>T	c.(454-456)AAC>AAT	p.N152N	HNRNPL_uc010xum.1_Silent_p.N19N|HNRNPL_uc010xun.1_5'Flank	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	152	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGTTCACTGCGTTGCAAGCCC	0.507												
PAK4	10298	broad.mit.edu	37	19	39669106	39669106	+	Nonsense_Mutation	SNP	C	C	T	rs56084716	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39669106C>T	uc002okj.1	+	11	2124	c.1663C>T	c.(1663-1665)CGA>TGA	p.R555*	PAK4_uc002okl.1_Nonsense_Mutation_p.R555*|PAK4_uc002okn.1_Nonsense_Mutation_p.R555*|PAK4_uc002okm.1_Nonsense_Mutation_p.R402*|PAK4_uc002oko.1_Nonsense_Mutation_p.R402*|PAK4_uc002okp.1_Nonsense_Mutation_p.R465*	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	555	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)			CCTGCTGGTGCGAGACCCTGC	0.672												
PAK4	10298	broad.mit.edu	37	19	39669137	39669137	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39669137A>G	uc002okj.1	+	11	2155	c.1694A>G	c.(1693-1695)GAG>GGG	p.E565G	PAK4_uc002okl.1_Missense_Mutation_p.E565G|PAK4_uc002okn.1_Missense_Mutation_p.E565G|PAK4_uc002okm.1_Missense_Mutation_p.E412G|PAK4_uc002oko.1_Missense_Mutation_p.E412G|PAK4_uc002okp.1_Missense_Mutation_p.E475G	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	565	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)			ACGGCAGCCGAGCTGCTGAAG	0.697												
PAF1	54623	broad.mit.edu	37	19	39876979	39876979	+	Silent	SNP	G	G	A	rs56222321	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:39876979G>A	uc002old.2	-	14	1423	c.1248C>T	c.(1246-1248)AGC>AGT	p.S416S	PAF1_uc002ole.1_Intron	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	416	Glu-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTTCACTCTCGCTGCCCGAGT	0.602												
FBL	2091	broad.mit.edu	37	19	40328367	40328367	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40328367T>G	uc002omn.2	-	6	780	c.666A>C	c.(664-666)AAA>AAC	p.K222N	FBL_uc002omm.1_Missense_Mutation_p.K136N|FBL_uc002omo.2_Missense_Mutation_p.K221N	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	222					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCATGCGGTATTTGTGTGGGT	0.582												
ZNF780B	163131	broad.mit.edu	37	19	40540940	40540940	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40540940C>G	uc002omu.2	-	5	1891	c.1826G>C	c.(1825-1827)GGT>GCT	p.G609A	ZNF780B_uc002omv.2_Missense_Mutation_p.G461A	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGGCTTCTCACCAGTATGAAA	0.413												
MAP3K10	4294	broad.mit.edu	37	19	40698374	40698374	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40698374G>T	uc002ona.2	+	1	724	c.436G>T	c.(436-438)GCC>TCC	p.A146S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	146	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GTGCCAGGAAGCCCGGCTCTT	0.667												
MAP3K10	4294	broad.mit.edu	37	19	40712031	40712031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40712031C>T	uc002ona.2	+	5	1690	c.1402C>T	c.(1402-1404)CGG>TGG	p.R468W	MAP3K10_uc002onb.2_Intron	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	468				LKLREGGSHISLPSGF -> AQAAGRRQPHQPALWL (in Ref. 3).	activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GCTCAAGCTGCGGGAAGGCGG	0.667												
PRX	57716	broad.mit.edu	37	19	40899994	40899994	+	Missense_Mutation	SNP	C	C	T	rs142436702	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40899994C>T	uc002onr.2	-	7	4534	c.4265G>A	c.(4264-4266)CGG>CAG	p.R1422Q	PRX_uc002onq.2_Missense_Mutation_p.R1283Q|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1422					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTCCCACTCCGGGCCTTGGG	0.687												
SPTBN4	57731	broad.mit.edu	37	19	41012169	41012169	+	Silent	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41012169G>C	uc002ony.2	+	13	1778	c.1692G>C	c.(1690-1692)GGG>GGC	p.G564G	SPTBN4_uc002onx.2_Silent_p.G564G|SPTBN4_uc002onz.2_Silent_p.G564G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	564	Spectrin 4.				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)			GGGAGTGTGGGCAGCACCTGG	0.647												
SHKBP1	92799	broad.mit.edu	37	19	41086783	41086783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41086783C>T	uc002oob.2	+	9	834	c.785C>T	c.(784-786)GCC>GTC	p.A262V	SHKBP1_uc002ooc.2_Missense_Mutation_p.A262V|SHKBP1_uc002ood.2_Missense_Mutation_p.A262V|SHKBP1_uc010xvl.1_Missense_Mutation_p.A185V|SHKBP1_uc002ooe.2_Missense_Mutation_p.A99V|SHKBP1_uc002oof.2_Missense_Mutation_p.A99V|SHKBP1_uc010xvm.1_Missense_Mutation_p.A99V|SHKBP1_uc010xvn.1_Missense_Mutation_p.A140V	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	262	WD 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGCAGCAGCCACCGGCAGC	0.607												
SHKBP1	92799	broad.mit.edu	37	19	41089337	41089337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41089337G>A	uc002oob.2	+	11	1043	c.994G>A	c.(994-996)GCG>ACG	p.A332T	SHKBP1_uc002ooc.2_Missense_Mutation_p.A307T|SHKBP1_uc002ood.2_Missense_Mutation_p.A332T|SHKBP1_uc010xvl.1_Missense_Mutation_p.A255T|SHKBP1_uc002ooe.2_Missense_Mutation_p.A169T|SHKBP1_uc002oof.2_Missense_Mutation_p.A169T|SHKBP1_uc010xvm.1_Missense_Mutation_p.A169T|SHKBP1_uc010xvn.1_Missense_Mutation_p.A210T	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	332	WD 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGTTATGACGCGGCAGGCTC	0.652												
ADCK4	79934	broad.mit.edu	37	19	41208524	41208524	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41208524C>T	uc002oor.2	-	10	1176	c.874G>A	c.(874-876)GCT>ACT	p.A292T	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A251T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	292	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGGGCACAAGCCGCCTCACGA	0.642												
ITPKC	80271	broad.mit.edu	37	19	41243632	41243632	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41243632T>C	uc002oot.2	+	6	1839	c.1806T>C	c.(1804-1806)CTT>CTC	p.L602L		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	602						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TAGAAGAACTTCGTGAAGCTC	0.572												
AXL	558	broad.mit.edu	37	19	41762394	41762394	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41762394G>A	uc010ehj.2	+	18	2264	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.G683R	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	692	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GGCGGACTTCGGGCTCTCCAA	0.552												
B9D2	80776	broad.mit.edu	37	19	41860690	41860690	+	Missense_Mutation	SNP	C	C	T	rs149500212		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41860690C>T	uc002oqj.2	-	4	663	c.443G>A	c.(442-444)CGC>CAC	p.R148H	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	148					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						TGTGTGCAGGCGATAGCGGTC	0.662												
BCKDHA	593	broad.mit.edu	37	19	41884359	41884359	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41884359T>C	uc002oqm.3	+	2	496	c.145T>C	c.(145-147)TTC>CTC	p.F49L	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.F49L|TMEM91_uc010ehq.2_Missense_Mutation_p.F49L|TMEM91_uc002oql.2_Missense_Mutation_p.F49L|TMEM91_uc010ehr.2_Missense_Mutation_p.F49L|TMEM91_uc010ehs.2_Missense_Mutation_p.F49L|TMEM91_uc010eht.2_Missense_Mutation_p.F49L|TMEM91_uc002oqk.3_Missense_Mutation_p.F49L|TMEM91_uc002oqn.2_Missense_Mutation_p.F49L	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GGGTTTGCAGTTCCTGTCACC	0.617												
ARHGEF1	9138	broad.mit.edu	37	19	42406498	42406498	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42406498C>T	uc002orx.2	+	16	1598	c.1489C>T	c.(1489-1491)CTG>TTG	p.L497L	ARHGEF1_uc002ory.2_Silent_p.L464L|ARHGEF1_uc002orz.2_Silent_p.L335L|ARHGEF1_uc002osa.2_Silent_p.L512L|ARHGEF1_uc002osb.2_Silent_p.L479L|ARHGEF1_uc002osc.2_Silent_p.L251L|ARHGEF1_uc002osd.2_Silent_p.L156L|ARHGEF1_uc002ose.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	497	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGACGTGCTGCTGGCCCGGGT	0.652												
ATP1A3	478	broad.mit.edu	37	19	42474440	42474440	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42474440C>T	uc002osg.2	-	18	2593	c.2439G>A	c.(2437-2439)GCG>GCA	p.A813A	ATP1A3_uc010xwf.1_Silent_p.A824A|ATP1A3_uc010xwg.1_Silent_p.A783A|ATP1A3_uc010xwh.1_Silent_p.A826A|ATP1A3_uc002osh.2_Silent_p.A813A	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	813	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						CAGCCTCGTACGCCAGTGAGA	0.642												
POU2F2	5452	broad.mit.edu	37	19	42599726	42599726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42599726G>A	uc002osp.2	-	10	992	c.925C>T	c.(925-927)CGC>TGC	p.R309C	POU2F2_uc002osn.2_Missense_Mutation_p.R293C|POU2F2_uc002oso.2_Missense_Mutation_p.R82C|POU2F2_uc002osq.2_Missense_Mutation_p.R293C|POU2F2_uc002osr.1_Missense_Mutation_p.R309C	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	309	Homeobox.				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)				AAGGCGAAGCGGACGTTTGTC	0.672												
GSK3A	2931	broad.mit.edu	37	19	42736740	42736740	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42736740C>T	uc002otb.1	-	9	1312	c.1193G>A	c.(1192-1194)TGT>TAT	p.C398Y	GSK3A_uc002ota.1_Missense_Mutation_p.C316Y|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	398	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				GCTGTGCGCACAGGCCTCTAG	0.592												
MEGF8	1954	broad.mit.edu	37	19	42873096	42873096	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42873096T>C	uc002otl.3	+	36	7017	c.6382T>C	c.(6382-6384)TGC>CGC	p.C2128R	MEGF8_uc002otm.3_Missense_Mutation_p.C1736R|MEGF8_uc002otn.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2195	Extracellular (Potential).|EGF-like 5.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GACGCAGAATTGCCACGACCA	0.667												
MEGF8	1954	broad.mit.edu	37	19	42879938	42879938	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:42879938C>A	uc002otl.3	+	41	7983	c.7348C>A	c.(7348-7350)CCT>ACT	p.P2450T	MEGF8_uc002otm.3_Missense_Mutation_p.P2058T|MEGF8_uc002otn.3_Missense_Mutation_p.P111T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2517	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CCGTGTGGCCCCTGACACTGG	0.652												
PSG1	5669	broad.mit.edu	37	19	43382329	43382329	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:43382329G>C	uc002ovb.2	-	2	304	c.166C>G	c.(166-168)CAC>GAC	p.H56D	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.H56D|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.H56D|PSG1_uc010eio.1_Missense_Mutation_p.H56D|PSG1_uc002oux.1_5'UTR|PSG1_uc002ouy.1_Missense_Mutation_p.H56D|PSG1_uc002ouz.1_Missense_Mutation_p.H56D|PSG1_uc002ova.1_Missense_Mutation_p.H56D|PSG1_uc002ovc.2_Missense_Mutation_p.H56D|PSG1_uc002ovd.1_Missense_Mutation_p.H56D	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	56	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GGCAAATTGTGGACAAGTAGA	0.453												
ZNF575	284346	broad.mit.edu	37	19	44039617	44039617	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44039617C>T	uc002ows.2	+	4	1044	c.516C>T	c.(514-516)ACC>ACT	p.T172T	ZNF575_uc002owq.2_Silent_p.T271T	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				ACCACGCCACCGACGCCCGCC	0.697												
KCNN4	3783	broad.mit.edu	37	19	44278355	44278355	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44278355G>A	uc002oxl.2	-	3	1068	c.672C>T	c.(670-672)TCC>TCT	p.S224S	KCNN4_uc010eiz.2_Silent_p.S137S|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	224	Helical; Name=Segment S5; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TCTCGGCCACGGACAGCACCC	0.682											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF404	342908	broad.mit.edu	37	19	44378091	44378091	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44378091T>C	uc002oxs.3	-	2	275	c.266A>G	c.(265-267)TAC>TGC	p.Y89C		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TTCAATTGTGTACTGTGGGTC	0.333												
ZNF221	7638	broad.mit.edu	37	19	44469186	44469186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44469186C>T	uc002oxx.2	+	4	494	c.166C>T	c.(166-168)CGA>TGA	p.R56*	ZNF221_uc010ejb.1_Nonsense_Mutation_p.R56*|ZNF221_uc010xws.1_Nonsense_Mutation_p.R56*	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522												
ZNF234	10780	broad.mit.edu	37	19	44661316	44661316	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44661316T>C	uc002oym.2	+	6	1454	c.1147T>C	c.(1147-1149)TAC>CAC	p.Y383H	ZNF234_uc002oyl.3_Missense_Mutation_p.Y383H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	383	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				GGGTTTCATTTACAGTTCAAG	0.428												
ZNF226	7769	broad.mit.edu	37	19	44681437	44681437	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44681437T>C	uc002oyp.2	+	6	2166	c.2022T>C	c.(2020-2022)GAT>GAC	p.D674D	ZNF226_uc002oyq.2_Silent_p.D557D|ZNF226_uc002oyr.2_Silent_p.D557D|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.D674D|ZNF226_uc002oyt.2_Silent_p.D674D	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	674	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				ACAAATGTGATGAGTGTGGGA	0.453												
ZNF235	9310	broad.mit.edu	37	19	44792006	44792006	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:44792006A>G	uc002oza.3	-	5	1685	c.1582T>C	c.(1582-1584)TCA>CCA	p.S528P	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.S524P|ZNF235_uc010xwx.1_Missense_Mutation_p.S442P	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	528	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGAAAGTATGAACTCTGACTG	0.453												
CBLC	23624	broad.mit.edu	37	19	45296787	45296787	+	Silent	SNP	C	C	T	rs112128460		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45296787C>T	uc002ozs.2	+	8	1257	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	CBLC_uc010ejt.2_Silent_p.A352A	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	398					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTGGGAGGCCGTGAGTATCT	0.642			M		AML							
NKPD1	284353	broad.mit.edu	37	19	45655873	45655873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45655873G>A	uc010xxi.1	-	4	1822	c.1822C>T	c.(1822-1824)CGC>TGC	p.R608C		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGGCAGTCGCGCTCGTCGTGA	0.701												
FOSB	2354	broad.mit.edu	37	19	45975912	45975912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45975912C>T	uc002pbx.3	+	4	1251	c.659C>T	c.(658-660)CCG>CTG	p.P220L	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.P145L|FOSB_uc002pby.3_Missense_Mutation_p.P184L|FOSB_uc010eka.1_Missense_Mutation_p.P181L|FOSB_uc010ekb.1_Missense_Mutation_p.P220L|FOSB_uc010ekc.1_Missense_Mutation_p.P77L|FOSB_uc010ekf.2_Missense_Mutation_p.P181L|FOSB_uc010ekd.1_Missense_Mutation_p.P184L|FOSB_uc010ekg.2_Missense_Mutation_p.P77L|FOSB_uc002pca.3_Missense_Mutation_p.P171L	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	220					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCCCACAAACCGGGCTGCAAG	0.607												
FOSB	2354	broad.mit.edu	37	19	45976210	45976210	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45976210C>T	uc002pbx.3	+	4	1549	c.957C>T	c.(955-957)CGC>CGT	p.R319R	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Silent_p.R244R|FOSB_uc002pby.3_Silent_p.R283R|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekf.2_Silent_p.R280R|FOSB_uc010ekd.1_3'UTR|FOSB_uc010ekg.2_Silent_p.R176R|FOSB_uc002pca.3_Silent_p.R270R	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	319					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCGCCCAACGCACCAGCGGCA	0.587												
GPR4	2828	broad.mit.edu	37	19	46094726	46094726	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46094726G>A	uc002pcm.2	-	2	1344	c.399C>T	c.(397-399)ACC>ACT	p.T133T	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	133	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGGCCACGGCGGTCTTGACGC	0.662												
CCDC8	83987	broad.mit.edu	37	19	46915764	46915764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46915764C>T	uc002pep.2	-	1	1156	c.304G>A	c.(304-306)GCC>ACC	p.A102T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	102						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGTCGCTGGCGTTGCTGCTG	0.657												
GRLF1	2909	broad.mit.edu	37	19	47425365	47425365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47425365C>T	uc010ekv.2	+	1	3433	c.3433C>T	c.(3433-3435)CGA>TGA	p.R1145*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1145					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CTCTCTAGAGCGAGGGCGCAA	0.562												
ZC3H4	23211	broad.mit.edu	37	19	47570574	47570574	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47570574A>G	uc002pga.3	-	15	2989	c.2951T>C	c.(2950-2952)CTG>CCG	p.L984P	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	984							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TAGGGGGATCAGGTCCTCGGG	0.682												
CCDC9	26093	broad.mit.edu	37	19	47773861	47773861	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47773861T>C	uc010xym.1	+	10	1208	c.1001T>C	c.(1000-1002)CTG>CCG	p.L334P		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	334											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGGAGTTCCTGTCCCAGCAC	0.647												
SLC8A2	6543	broad.mit.edu	37	19	47969099	47969099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47969099C>T	uc002pgx.2	-	2	840	c.562G>A	c.(562-564)GAG>AAG	p.E188K	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E188K	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	188	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)		TTGCGGCTCTCGCCGGCTGGG	0.567												
TMEM143	55260	broad.mit.edu	37	19	48863431	48863431	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48863431T>C	uc002pix.1	-	3	276	c.267A>G	c.(265-267)GAA>GAG	p.E89E	TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzn.1_Silent_p.E89E|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc010xzp.1_Silent_p.E89E|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	89						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TCGAGTGGAATTCCTGTTACC	0.557												
KCNJ14	3770	broad.mit.edu	37	19	48965192	48965192	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48965192G>A	uc002pje.1	+	2	616	c.211G>A	c.(211-213)GCG>ACG	p.A71T	KCNJ14_uc002pjf.1_Missense_Mutation_p.A71T	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	71	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		TGGCCAGGGCGCGCGCTACCT	0.667												
KCNJ14	3770	broad.mit.edu	37	19	48968005	48968005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48968005C>T	uc002pje.1	+	3	1687	c.1282C>T	c.(1282-1284)CCA>TCA	p.P428S	KCNJ14_uc002pjf.1_Missense_Mutation_p.P428S	NM_013348	NP_037480	Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel J14	428	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			skin(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;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGTTCTCACACCAACCCTGGC	0.592												
TULP2	7288	broad.mit.edu	37	19	49400605	49400605	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49400605C>T	uc002pkz.2	-	3	232	c.81G>A	c.(79-81)CAG>CAA	p.Q27Q	NUCB1_uc002pla.2_5'Flank|NUCB1_uc002plb.3_5'Flank	NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	27					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACAATACCTGCTGTTCCAGCT	0.607												
CGB8	94115	broad.mit.edu	37	19	49551986	49551986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49551986A>G	uc002pmb.3	-	1	383	c.11T>C	c.(10-12)TTC>TCC	p.F4S	CGB_uc010yad.1_Intron|CGB8_uc002pma.2_5'Flank|CGB8_uc002pmc.2_Intron	NM_033183	NP_149439	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8	4					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	TCTTACCTGGAACATCTCCAT	0.607												
CD37	951	broad.mit.edu	37	19	49842653	49842653	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49842653G>T	uc002pnd.2	+	7	872	c.751G>T	c.(751-753)GGC>TGC	p.G251C	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.G251C|CD37_uc010yan.1_Missense_Mutation_p.G183C|CD37_uc002pnf.3_Missense_Mutation_p.G223C|CD37_uc002pne.2_Missense_Mutation_p.G183C	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	251	Helical; (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CATTTGCCTGGGCGTCGGCCT	0.602												
SLC17A7	57030	broad.mit.edu	37	19	49934663	49934663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:49934663G>A	uc002pnp.2	-	10	1365	c.1193C>T	c.(1192-1194)TCG>TTG	p.S398L	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	398	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTTGGAGTGCGAGTAGCCGAC	0.577												
TBC1D17	79735	broad.mit.edu	37	19	50386247	50386247	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50386247G>A	uc002pqo.2	+	9	1097	c.945G>A	c.(943-945)CTG>CTA	p.L315L	TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Silent_p.L282L|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	315	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCCCCAGCCTGCGGCGCGAGG	0.637												
ATF5	22809	broad.mit.edu	37	19	50436306	50436306	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50436306T>C	uc010enq.1	+	4	1373	c.806T>C	c.(805-807)ATC>ACC	p.I269T	ATF5_uc002prd.2_Missense_Mutation_p.I269T	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	269					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I269I(1)		skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCTGCTCATCGAGGTTTAC	0.647												
C19orf41	126123	broad.mit.edu	37	19	50661547	50661547	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50661547A>G	uc002prp.1	-	5	561	c.474T>C	c.(472-474)TGT>TGC	p.C158C		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	158	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		TTTTGTGGATACACTTGGGAG	0.493												
MYH14	79784	broad.mit.edu	37	19	50784930	50784930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50784930G>A	uc002prr.1	+	31	4294	c.4247G>A	c.(4246-4248)CGG>CAG	p.R1416Q	MYH14_uc010enu.1_Missense_Mutation_p.R1457Q|MYH14_uc002prq.1_Missense_Mutation_p.R1424Q|MYH14_uc010ycb.1_Intron	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1416	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGCAGCCCGGGAGGCCGAG	0.741												
POLD1	5424	broad.mit.edu	37	19	50917010	50917010	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50917010T>C	uc002psb.3	+	19	2318	c.2262T>C	c.(2260-2262)GGT>GGC	p.G754G	POLD1_uc002psc.3_Silent_p.G754G|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.G780G	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	754					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGGTGTATGGTGACACTGACT	0.637								DNA_polymerases_(catalytic_subunits)				
SHANK1	50944	broad.mit.edu	37	19	51169816	51169816	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51169816G>A	uc002psx.1	-	22	5420	c.5401C>T	c.(5401-5403)CGT>TGT	p.R1801C	SHANK1_uc002psw.1_Missense_Mutation_p.R1185C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1801					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)		GAACAAGCACGCAGGGCCAGC	0.721												
SHANK1	50944	broad.mit.edu	37	19	51171765	51171765	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51171765T>C	uc002psx.1	-	22	3471	c.3452A>G	c.(3451-3453)AAC>AGC	p.N1151S	SHANK1_uc002psw.1_Missense_Mutation_p.N535S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1151					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)		GGGGATGGAGTTCTTCTCCGA	0.473												
SHANK1	50944	broad.mit.edu	37	19	51201124	51201124	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:51201124T>C	uc002psx.1	-	12	1856	c.1837A>G	c.(1837-1839)AAT>GAT	p.N613D		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	613	SH3.				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)		TGAGAGCGATTCGCCACTTCT	0.567												
HAS1	3036	broad.mit.edu	37	19	52216817	52216817	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52216817G>A	uc002pxo.1	-	5	1635	c.1600C>T	c.(1600-1602)CGC>TGC	p.R534C	HAS1_uc010epc.1_Missense_Mutation_p.R134C|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R541C|HAS1_uc002pxp.1_Missense_Mutation_p.R533C	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	534	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCGGCTGCGCGGGAAGGGCCG	0.726												
ZNF577	84765	broad.mit.edu	37	19	52381737	52381737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52381737C>T	uc010yde.1	-	5	483	c.92G>A	c.(91-93)GGC>GAC	p.G31D	ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.G31D|ZNF577_uc002pxv.2_Missense_Mutation_p.G24D|ZNF577_uc002pxw.2_Missense_Mutation_p.G24D	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCTGGTGAAGCCCACAGCCAC	0.453												
ZNF616	90317	broad.mit.edu	37	19	52619010	52619010	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52619010T>C	uc002pym.2	-	4	1690	c.1407A>G	c.(1405-1407)GAA>GAG	p.E469E	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	469	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTTTGCCACATTCATTGCATT	0.398												
ZNF480	147657	broad.mit.edu	37	19	52826015	52826015	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:52826015T>C	uc010ydl.1	+	5	1582	c.1512T>C	c.(1510-1512)ATT>ATC	p.I504I	ZNF480_uc002pyv.2_Silent_p.I427I|ZNF480_uc010ydm.1_Silent_p.I461I|ZNF480_uc010epn.2_Silent_p.I335I|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	504	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATCGGAAAATTCATACTGGAG	0.403												
ZNF808	388558	broad.mit.edu	37	19	53057276	53057276	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53057276A>G	uc010epq.1	+	5	1284	c.1107A>G	c.(1105-1107)AAA>AAG	p.K369K	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTGGAGTGAAACCTTACAAAT	0.378												
ZNF600	162966	broad.mit.edu	37	19	53270656	53270656	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53270656G>A	uc002qab.3	-	3	639	c.353C>T	c.(352-354)GCT>GTT	p.A118V		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AACCGAGGGAGCATCACTGGT	0.393												
ZNF320	162967	broad.mit.edu	37	19	53384245	53384245	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53384245A>G	uc002qag.2	-	4	1325	c.1134T>C	c.(1132-1134)GTT>GTC	p.V378V	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.V324V|ZNF320_uc002qai.2_Silent_p.V378V	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	378	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CTCCAGTATGAACTCTCTGAT	0.408												
ZNF761	388561	broad.mit.edu	37	19	53957988	53957988	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53957988T>A	uc010eqp.2	+	7	685	c.227T>A	c.(226-228)ATA>AAA	p.I76K	ZNF761_uc010ydy.1_Missense_Mutation_p.I22K|ZNF761_uc002qbt.1_Missense_Mutation_p.I22K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ACATTGCAAATACATGAAAGT	0.378												
ZNF761	388561	broad.mit.edu	37	19	53959361	53959361	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:53959361A>G	uc010eqp.2	+	7	2058	c.1600A>G	c.(1600-1602)AAG>GAG	p.K534E	ZNF761_uc010ydy.1_Missense_Mutation_p.K480E|ZNF761_uc002qbt.1_Missense_Mutation_p.K480E	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	534	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		CTTTAGTTGGAAGTCATCCCT	0.443												
PRKCG	5582	broad.mit.edu	37	19	54401306	54401306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAGTCCAGGACGCCTGCACAT	0.493												
LILRB2	10288	broad.mit.edu	37	19	54783435	54783435	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54783435G>T	uc002qfb.2	-	5	689	c.423C>A	c.(421-423)ACC>ACA	p.T141T	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T141T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T141T|LILRB2_uc010yet.1_Silent_p.T25T|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	141	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCACCCTTC	0.582												
LENG8	114823	broad.mit.edu	37	19	54966602	54966602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54966602A>G	uc002qfv.1	+	7	914	c.770A>G	c.(769-771)AAA>AGA	p.K257R	LENG8_uc002qfw.2_Missense_Mutation_p.K294R			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	257							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAGGACATGAAAGAGTATGTG	0.647												
LILRA2	11027	broad.mit.edu	37	19	55085865	55085865	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55085865G>T	uc002qgg.3	+	3	257	c.168G>T	c.(166-168)GAG>GAT	p.E56D	LILRA2_uc010ern.2_Missense_Mutation_p.E56D|LILRA2_uc002qgf.2_Missense_Mutation_p.E56D|LILRA2_uc010yfe.1_Missense_Mutation_p.E56D|LILRA2_uc010yff.1_Missense_Mutation_p.E44D|LILRA2_uc010ero.2_Missense_Mutation_p.E44D|LILRA2_uc010yfg.1_Missense_Mutation_p.E56D	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	56	Extracellular (Potential).|Ig-like C2-type 1.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		TTCAGGCTGAGGAGTACCATC	0.572												
HSPBP1	23640	broad.mit.edu	37	19	55773978	55773978	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55773978A>G	uc002qjx.2	-	7	1326	c.1216T>C	c.(1216-1218)TGA>CGA	p.*406R	HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360R|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360R	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	406					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTGGTTTCACCGATCCATG	0.622												
TMEM150B	284417	broad.mit.edu	37	19	55832401	55832401	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:55832401A>G	uc010esw.1	-	3	177	c.4T>C	c.(4-6)TGG>CGG	p.W2R	TMEM150B_uc010yfu.1_Missense_Mutation_p.W2R|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.W2R	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	2						integral to membrane					0						AGGTAGCCCCACATGCCGGGC	0.562												
ZNF579	163033	broad.mit.edu	37	19	56089484	56089484	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:56089484T>C	uc002qlh.2	-	2	1575	c.1522A>G	c.(1522-1524)AAG>GAG	p.K508E		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	508	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGCTCTTCCTTAATGTTTGCG	0.502												
NLRP9	338321	broad.mit.edu	37	19	56223792	56223792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:56223792C>T	uc002qly.2	-	7	2694	c.2666G>A	c.(2665-2667)TGT>TAT	p.C889Y		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	889	LRR 6.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCACCCGAGACACTCTAATTT	0.428												
ZNF835	90485	broad.mit.edu	37	19	57175421	57175421	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57175421G>A	uc010ygo.1	-	2	1212	c.1212C>T	c.(1210-1212)CTC>CTT	p.L404L	ZNF835_uc010ygn.1_Silent_p.L382L	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CGGTGTGCACGAGGCGGTGCT	0.667												
ZNF460	10794	broad.mit.edu	37	19	57802980	57802980	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57802980T>C	uc002qog.2	+	3	1393	c.1071T>C	c.(1069-1071)ATT>ATC	p.I357I	ZNF460_uc010ygv.1_Silent_p.I316I	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	357	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGAGCGGATTCACACTGGTG	0.502												
ZNF17	7565	broad.mit.edu	37	19	57929356	57929356	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57929356A>G	uc002qoo.1	+	2	323	c.92A>G	c.(91-93)CAC>CGC	p.H31R	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.H33R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GTTCAGAGACACCTGCACAGC	0.453												
ZNF773	374928	broad.mit.edu	37	19	58017804	58017804	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58017804A>G	uc002qox.2	+	4	481	c.341A>G	c.(340-342)CAA>CGA	p.Q114R	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.Q113R|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	114					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;0.0254)		AACGTTCAGCAACACCAGAAG	0.498												
ZNF587	84914	broad.mit.edu	37	19	58371166	58371166	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58371166G>A	uc002qql.2	+	3	1524	c.1386G>A	c.(1384-1386)AGG>AGA	p.R462R	ZNF587_uc002qqb.2_Silent_p.R419R|ZNF587_uc010yhh.1_Silent_p.R419R|ZNF587_uc002qqi.1_Silent_p.R419R|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Silent_p.R461R	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CTGGAGAAAGGCCATATGCGT	0.428												
ZNF606	80095	broad.mit.edu	37	19	58490719	58490719	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58490719A>G	uc002qqw.2	-	7	1947	c.1329T>C	c.(1327-1329)CTT>CTC	p.L443L	ZNF606_uc010yhp.1_Silent_p.L353L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	443	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATGTTTCGTAAGGGCTGAGC	0.363												
ZNF135	7694	broad.mit.edu	37	19	58578892	58578892	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58578892T>A	uc010yhq.1	+	5	1172	c.1076T>A	c.(1075-1077)ATC>AAC	p.I359N	ZNF135_uc002qre.2_Missense_Mutation_p.I347N|ZNF135_uc002qrd.1_Missense_Mutation_p.I305N|ZNF135_uc002qrf.2_Missense_Mutation_p.I305N|ZNF135_uc002qrg.2_Missense_Mutation_p.I317N|ZNF135_uc010yhr.1_Missense_Mutation_p.I168N	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	359					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCTGCGAATCCACACTGGG	0.572												
ZNF584	201514	broad.mit.edu	37	19	58926931	58926931	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58926931G>T	uc002qsp.2	+	3	662	c.210G>T	c.(208-210)GAG>GAT	p.E70D	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.E25D|ZNF584_uc010yib.1_Missense_Mutation_p.E62D	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|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;0.0271)		CCCAGCTGGAGGATGATGAAC	0.463												
TPO	7173	broad.mit.edu	37	2	1480977	1480977	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1480977G>A	uc002qww.2	+	8	1030	c.939G>A	c.(937-939)CCG>CCA	p.P313P	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.P313P|TPO_uc002qwr.2_Silent_p.P313P|TPO_uc002qwx.2_Silent_p.P313P|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Silent_p.P313P	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	313	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCAACCCGCGGCAGCAGA	0.697												
MYT1L	23040	broad.mit.edu	37	2	1890312	1890312	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1890312T>C	uc002qxe.2	-	18	3537	c.2710A>G	c.(2710-2712)AAG>GAG	p.K904E	MYT1L_uc002qxd.2_Missense_Mutation_p.K902E|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	904	C2HC-type 4.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAATCTTACTTGAGTTCTTGG	0.418												
MYT1L	23040	broad.mit.edu	37	2	1926086	1926086	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1926086G>A	uc002qxe.2	-	10	2282	c.1455C>T	c.(1453-1455)AGC>AGT	p.S485S	MYT1L_uc002qxd.2_Silent_p.S485S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	485					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTTGACATGGCTGTCACTGG	0.463												
TSSC1	7260	broad.mit.edu	37	2	3197842	3197842	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:3197842T>C	uc002qxj.2	-	7	942	c.749A>G	c.(748-750)GAC>GGC	p.D250G	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	250	WD 3.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CACCTTACAGTCGTCTCCGCA	0.567												
SOX11	6664	broad.mit.edu	37	2	5833227	5833227	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:5833227A>G	uc002qyj.2	+	1	429	c.374A>G	c.(373-375)AAA>AGA	p.K125R		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	125					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AAAAAGCCCAAAATGGACCCC	0.488												
KIDINS220	57498	broad.mit.edu	37	2	8926386	8926386	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:8926386C>A	uc002qzc.2	-	16	2071	c.1889G>T	c.(1888-1890)GGC>GTC	p.G630V	KIDINS220_uc010yiv.1_Missense_Mutation_p.G396V|KIDINS220_uc002qzd.2_Missense_Mutation_p.G588V|KIDINS220_uc010yiw.1_Missense_Mutation_p.G631V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	630	Cytoplasmic (Potential).|KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCAAAAAGCCAAACTCTCT	0.433												
IAH1	285148	broad.mit.edu	37	2	9618462	9618462	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:9618462T>C	uc002qzr.2	+	3	272	c.246T>C	c.(244-246)GTT>GTC	p.V82V	IAH1_uc002qzs.2_5'UTR|IAH1_uc002qzt.2_5'UTR|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	82					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTAGCAGTTACAATTTTCT	0.368												
ADAM17	6868	broad.mit.edu	37	2	9683306	9683306	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:9683306A>G	uc002qzu.2	-	2	389	c.206T>C	c.(205-207)CTA>CCA	p.L69P	ADAM17_uc010ewy.2_Missense_Mutation_p.L69P|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.L69P|ADAM17_uc002qzv.2_Missense_Mutation_p.L69P	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	69					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAAAGTTAGTAGTGTTTCTAC	0.363												
HPCAL1	3241	broad.mit.edu	37	2	10560015	10560015	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:10560015C>T	uc002raj.2	+	3	506	c.132C>T	c.(130-132)ACC>ACT	p.T44T	HPCAL1_uc002rak.2_Silent_p.T44T|HPCAL1_uc002ral.2_Silent_p.T44T|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.T44T	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	44	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GCCACCTGACCGTGGACGAGT	0.617												
HPCAL1	3241	broad.mit.edu	37	2	10560033	10560033	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:10560033G>A	uc002raj.2	+	3	524	c.150G>A	c.(148-150)AAG>AAA	p.K50K	HPCAL1_uc002rak.2_Silent_p.K50K|HPCAL1_uc002ral.2_Silent_p.K50K|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.K50K	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	50	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGTTCAAGAAGATCTACGCCA	0.617												
PQLC3	130814	broad.mit.edu	37	2	11317897	11317897	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:11317897T>C	uc002rbc.2	+	7	685	c.552T>C	c.(550-552)AAT>AAC	p.N184N	PQLC3_uc010yjk.1_Silent_p.N170N	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	184	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGCTTTAAATATATGGGTAA	0.368												
NBAS	51594	broad.mit.edu	37	2	15468396	15468396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:15468396G>A	uc002rcc.1	-	37	4414	c.4388C>T	c.(4387-4389)GCC>GTC	p.A1463V	NBAS_uc010exl.1_Missense_Mutation_p.A535V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1463										ovary(2)|liver(1)|skin(1)	4						ATCTTCATTGGCTGTAGTTCC	0.303												
DDX1	1653	broad.mit.edu	37	2	15743351	15743351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:15743351G>A	uc002rce.2	+	8	715	c.427G>A	c.(427-429)GGG>AGG	p.G143R	DDX1_uc010yjq.1_Missense_Mutation_p.G51R	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	143	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TCATGACCAAGGGTTATGCAG	0.388												
FAM49A	81553	broad.mit.edu	37	2	16742786	16742786	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:16742786T>C	uc010exm.1	-	6	599	c.451A>G	c.(451-453)ATT>GTT	p.I151V	FAM49A_uc002rck.1_Missense_Mutation_p.I151V	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	151						intracellular					0	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCATTCTGAATAGCCGGGTTC	0.483												
PUM2	23369	broad.mit.edu	37	2	20453706	20453706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:20453706G>T	uc002rds.1	-	19	2963	c.2940C>A	c.(2938-2940)TGC>TGA	p.C980*	PUM2_uc002rdq.1_Nonsense_Mutation_p.C359*|PUM2_uc002rdt.1_Nonsense_Mutation_p.C980*|PUM2_uc002rdr.2_Nonsense_Mutation_p.C840*|PUM2_uc010yjy.1_Nonsense_Mutation_p.C901*|PUM2_uc002rdu.1_Nonsense_Mutation_p.C980*|PUM2_uc010yjz.1_Nonsense_Mutation_p.C919*	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	982	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCTGGCAGCAAACCTCGT	0.418												
HS1BP3	64342	broad.mit.edu	37	2	20845123	20845123	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:20845123G>A	uc002rdw.1	-	2	216	c.175C>T	c.(175-177)CCC>TCC	p.P59S	HS1BP3_uc002rdx.2_Missense_Mutation_p.P59S|HS1BP3_uc002rdy.2_Missense_Mutation_p.P59S	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	59	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATCCTCGGGCCTGTGCTTG	0.642												
NCOA1	8648	broad.mit.edu	37	2	24929467	24929467	+	Missense_Mutation	SNP	C	C	A	rs142572701		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:24929467C>A	uc002rfk.2	+	11	1386	c.1128C>A	c.(1126-1128)GAC>GAA	p.D376E	NCOA1_uc010eye.2_Missense_Mutation_p.D376E|NCOA1_uc002rfi.2_Missense_Mutation_p.D225E|NCOA1_uc002rfj.2_Missense_Mutation_p.D376E|NCOA1_uc002rfl.2_Missense_Mutation_p.D376E	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	376	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAAGATGACACTAATTCTG	0.403			T	PAX3	alveolar rhadomyosarcoma							
KIF3C	3797	broad.mit.edu	37	2	26203675	26203675	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:26203675A>G	uc002rgu.2	-	1	1769	c.1112T>C	c.(1111-1113)GTG>GCG	p.V371A	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.V371A	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	371	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTCGTTCACCTGGGGCTT	0.602												
AGBL5	60509	broad.mit.edu	37	2	27290410	27290410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27290410G>A	uc002rie.2	+	12	2355	c.2138G>A	c.(2137-2139)CGT>CAT	p.R713H	AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	713					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)					CTGAACCATCGTCCTGCAGGC	0.562												
SLC5A6	8884	broad.mit.edu	37	2	27426119	27426119	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27426119T>C	uc002rjd.2	-	11	1580	c.1189A>G	c.(1189-1191)ATG>GTG	p.M397V	SLC5A6_uc010eyv.1_Missense_Mutation_p.M397V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	397	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CTGGAAAGCATGATGGCCCGG	0.463												
SLC30A3	7781	broad.mit.edu	37	2	27479689	27479689	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27479689T>C	uc002rjk.2	-	6	1036	c.850A>G	c.(850-852)ACC>GCC	p.T284A	SLC30A3_uc002rjj.2_Silent_p.P129P|SLC30A3_uc010ylh.1_Missense_Mutation_p.T279A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	284	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCGGAGGGTGGGAGCGGTG	0.587												
SNX17	9784	broad.mit.edu	37	2	27599213	27599213	+	Missense_Mutation	SNP	C	C	T	rs144142186	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27599213C>T	uc002rkg.1	+	13	1438	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	SNX17_uc010ylj.1_Missense_Mutation_p.R386C|SNX17_uc010ylk.1_Missense_Mutation_p.R192C|SNX17_uc010eza.1_Missense_Mutation_p.R192C|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.R192C|SNX17_uc010yll.1_Missense_Mutation_p.R192C|SNX17_uc010ylm.1_Missense_Mutation_p.R192C|SNX17_uc010yln.1_Missense_Mutation_p.R394C|SNX17_uc010ylo.1_Missense_Mutation_p.R324C|SNX17_uc010ylp.1_Missense_Mutation_p.R381C|SNX17_uc010ylq.1_Missense_Mutation_p.R192C	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	406					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCTGAGACGCTCAGACAG	0.607												
RBKS	64080	broad.mit.edu	37	2	28050434	28050434	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:28050434C>T	uc002rlo.1	-	7	806	c.795G>A	c.(793-795)ACG>ACA	p.T265T	RBKS_uc010ezi.1_Silent_p.T198T|RBKS_uc010ymg.1_Silent_p.T265T	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TAAAACTTACCGTGGTATCCA	0.383												
PLB1	151056	broad.mit.edu	37	2	28801025	28801025	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:28801025G>A	uc002rmb.1	+	22	1485	c.1485G>A	c.(1483-1485)ACG>ACA	p.T495T	PLB1_uc010ezj.1_Silent_p.T506T|PLB1_uc002rmc.2_Silent_p.T183T|PLB1_uc002rmd.1_Silent_p.T5T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	495	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGAATGACACGGTGGGTCCCT	0.567												
C2orf71	388939	broad.mit.edu	37	2	29296327	29296327	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29296327C>T	uc002rmt.1	-	1	801	c.801G>A	c.(799-801)CTG>CTA	p.L267L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	267					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GCAGCTGTTGCAGGAGATTTG	0.582												
LCLAT1	253558	broad.mit.edu	37	2	30748623	30748623	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:30748623T>C	uc002rnj.2	+	3	488	c.279_splice	c.e3+2	p.V93_splice	LCLAT1_uc010ymp.1_Intron|LCLAT1_uc002rnk.1_Splice_Site_p.V93_splice|LCLAT1_uc002rnl.2_Splice_Site_p.V55_splice|LCLAT1_uc010ymq.1_Splice_Site_p.V55_splice	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1						multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CTACCTGTGGTAAGTTACACA	0.358												
XDH	7498	broad.mit.edu	37	2	31588901	31588901	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:31588901A>G	uc002rnv.1	-	22	2476	c.2397T>C	c.(2395-2397)TTT>TTC	p.F799F		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	799		Molybdenum; via carbonyl oxygen.			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)	CCTTGCCTCCAAAGCCTCCTC	0.532												
NLRC4	58484	broad.mit.edu	37	2	32449783	32449783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:32449783G>A	uc002roi.2	-	9	3080	c.2834C>T	c.(2833-2835)GCG>GTG	p.A945V	NLRC4_uc002roj.1_Missense_Mutation_p.A945V|NLRC4_uc010ezt.1_Missense_Mutation_p.A280V	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	945	LRR 12.				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)					ACGATTTCCCGCCAAATTCAA	0.338												
LTBP1	4052	broad.mit.edu	37	2	33623566	33623566	+	Missense_Mutation	SNP	C	C	T	rs141171373	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:33623566C>T	uc002ros.2	+	34	5123	c.5123C>T	c.(5122-5124)CCG>CTG	p.P1708L	LTBP1_uc002rot.2_Missense_Mutation_p.P1382L|LTBP1_uc002rou.2_Missense_Mutation_p.P1381L|LTBP1_uc002rov.2_Missense_Mutation_p.P1328L|LTBP1_uc010ymz.1_Missense_Mutation_p.P1339L|LTBP1_uc010yna.1_Missense_Mutation_p.P1286L|LTBP1_uc010ynb.1_Missense_Mutation_p.P605L	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1707					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)				TACTGCACTCCGTTGAATACC	0.453												
EIF2AK2	5610	broad.mit.edu	37	2	37347136	37347136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:37347136A>G	uc010ynh.1	-	13	1771	c.1214T>C	c.(1213-1215)ATA>ACA	p.I405T	EIF2AK2_uc010fab.1_Missense_Mutation_p.I364T|EIF2AK2_uc010yng.1_Missense_Mutation_p.I405T|EIF2AK2_uc010fac.2_Missense_Mutation_p.I405T|EIF2AK2_uc010fad.2_Missense_Mutation_p.I352T	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	405	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TTTTGAATGTATATAATCCAC	0.264												
SLC8A1	6546	broad.mit.edu	37	2	40656492	40656492	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:40656492A>G	uc002rrx.2	-	1	953	c.929T>C	c.(928-930)CTG>CCG	p.L310P	SLC8A1_uc002rry.2_Missense_Mutation_p.L310P|SLC8A1_uc002rrz.2_Missense_Mutation_p.L310P|SLC8A1_uc002rsa.2_Missense_Mutation_p.L310P|SLC8A1_uc002rsd.3_Missense_Mutation_p.L310P|SLC8A1_uc002rsb.1_Missense_Mutation_p.L310P|SLC8A1_uc010fan.1_Missense_Mutation_p.L310P|SLC8A1_uc002rsc.1_Missense_Mutation_p.L310P	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	310	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATCCACCTCCAGAACCAGAGC	0.428												
THADA	63892	broad.mit.edu	37	2	43808916	43808916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:43808916C>T	uc002rsw.3	-	8	1037	c.685G>A	c.(685-687)GGA>AGA	p.G229R	THADA_uc002rsx.3_Missense_Mutation_p.G229R|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.G229R|THADA_uc002rtc.3_Missense_Mutation_p.G229R|THADA_uc002rtd.2_Missense_Mutation_p.G229R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	229							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTCAGCAATCCACACATATTT	0.338												
THADA	63892	broad.mit.edu	37	2	43813540	43813540	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:43813540C>A	uc002rsw.3	-	7	885	c.533G>T	c.(532-534)AGA>ATA	p.R178I	THADA_uc002rsx.3_Missense_Mutation_p.R178I|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.R178I|THADA_uc002rtc.3_Missense_Mutation_p.R178I|THADA_uc002rtd.2_Missense_Mutation_p.R178I	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	178							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAGCACTTGCCTATTTTCTTC	0.313												
PPM1B	5495	broad.mit.edu	37	2	44428693	44428693	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44428693A>G	uc002rtt.2	+	2	783	c.355A>G	c.(355-357)AAC>GAC	p.N119D	PPM1B_uc002rts.2_Missense_Mutation_p.N119D|PPM1B_uc002rtu.2_Missense_Mutation_p.N119D|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.N119D|PPM1B_uc002rtx.2_Missense_Mutation_p.N119D	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	119					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATACATGCGTAACTTTTCAGA	0.403												
PPM1B	5495	broad.mit.edu	37	2	44428717	44428717	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44428717A>G	uc002rtt.2	+	2	807	c.379A>G	c.(379-381)ATG>GTG	p.M127V	PPM1B_uc002rts.2_Missense_Mutation_p.M127V|PPM1B_uc002rtu.2_Missense_Mutation_p.M127V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.M127V|PPM1B_uc002rtx.2_Missense_Mutation_p.M127V	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	127					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGAAACGGGATGGACAGGAG	0.398												
PPM1B	5495	broad.mit.edu	37	2	44436356	44436356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44436356G>A	uc002rtt.2	+	3	1282	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	PPM1B_uc002rts.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtu.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtv.2_5'UTR|PPM1B_uc002rtw.2_Missense_Mutation_p.R285Q|PPM1B_uc002rtx.2_Missense_Mutation_p.R285Q	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	285					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGGAAGTCGAGATAACATG	0.294												
SIX3	6496	broad.mit.edu	37	2	45169356	45169356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:45169356C>T	uc002run.1	+	1	320	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	38	Poly-Gly.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gggaacggtgcgggaggcggc	0.239												
PRKCE	5581	broad.mit.edu	37	2	46378314	46378314	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:46378314C>T	uc002rut.2	+	13	2063	c.1866C>T	c.(1864-1866)GAC>GAT	p.D622D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	622	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TCCTCCATGACGACGTGCTGT	0.587												
EPAS1	2034	broad.mit.edu	37	2	46574037	46574037	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:46574037A>G	uc002ruv.2	+	2	540	c.52A>G	c.(52-54)AAG>GAG	p.K18E		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	18	Basic motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGGAAGGAGAAGTCCCGGGA	0.592												
MSH6	2956	broad.mit.edu	37	2	48026471	48026471	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48026471T>C	uc002rwd.3	+	4	1501	c.1349T>C	c.(1348-1350)GTA>GCA	p.V450A	MSH6_uc002rwc.2_Missense_Mutation_p.V450A|MSH6_uc010fbj.2_Missense_Mutation_p.V148A|MSH6_uc010yoi.1_Missense_Mutation_p.V320A|MSH6_uc010yoj.1_Missense_Mutation_p.V148A	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	450					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGGGCTGGTATTCATGAAA	0.453			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
MSH6	2956	broad.mit.edu	37	2	48026560	48026560	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48026560G>C	uc002rwd.3	+	4	1590	c.1438G>C	c.(1438-1440)GTA>CTA	p.V480L	MSH6_uc002rwc.2_Missense_Mutation_p.V480L|MSH6_uc010fbj.2_Missense_Mutation_p.V178L|MSH6_uc010yoi.1_Missense_Mutation_p.V350L|MSH6_uc010yoj.1_Missense_Mutation_p.V178L	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	480					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.V480L(1)		large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGGCTATAAAGTAGCACGAGT	0.473			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809378	48809378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:48809378G>A	uc010yol.1	+	1	1653	c.1606G>A	c.(1606-1608)GTC>ATC	p.V536I	STON1_uc002rwo.3_Missense_Mutation_p.V536I|STON1_uc010fbm.2_Missense_Mutation_p.V536I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V536I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V536I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	536					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTAGTGGTTGTCCAGGGAGC	0.463												
FSHR	2492	broad.mit.edu	37	2	49190590	49190590	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:49190590A>G	uc002rww.2	-	10	1444	c.1370T>C	c.(1369-1371)GTC>GCC	p.V457A	FSHR_uc002rwx.2_Missense_Mutation_p.V395A|FSHR_uc010fbn.2_Missense_Mutation_p.V431A	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	457	Helical; Name=3; (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGAGTGTAGACTGACAGCTC	0.522									Gonadal_Dysgenesis_46_XX			
PSME4	23198	broad.mit.edu	37	2	54115035	54115035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:54115035G>A	uc002rxp.2	-	39	4536	c.4480C>T	c.(4480-4482)CTC>TTC	p.L1494F	PSME4_uc010yop.1_Missense_Mutation_p.L1380F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L869F|PSME4_uc010fbv.1_Missense_Mutation_p.L638F|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1494					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCTGGGTGAGTTTGGGTTCC	0.393												
ACYP2	98	broad.mit.edu	37	2	54362601	54362601	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:54362601A>G	uc002rxq.3	+	2	496	c.70A>G	c.(70-72)AGA>GGA	p.R24G		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	24	Acylphosphatase-like.	Potential.			phosphate metabolic process		acylphosphatase activity				0						TGTTTGCTTCAGAATGGTAAG	0.318												
MTIF2	4528	broad.mit.edu	37	2	55464533	55464533	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55464533T>C	uc002ryn.2	-	16	2639	c.1902A>G	c.(1900-1902)GTA>GTG	p.V634V	MTIF2_uc010yox.1_Silent_p.V303V|MTIF2_uc002ryo.2_Silent_p.V634V	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	634					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TCCCTTCTGTTACAGAGAAGG	0.358												
CCDC88A	55704	broad.mit.edu	37	2	55535973	55535973	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55535973G>A	uc002ryv.2	-	25	5198	c.4356C>T	c.(4354-4356)GGC>GGT	p.G1452G	CCDC88A_uc010yoz.1_Silent_p.G1453G|CCDC88A_uc010ypa.1_Silent_p.G1452G|CCDC88A_uc010fbw.2_Silent_p.G76G|CCDC88A_uc002ryu.2_Silent_p.G735G|CCDC88A_uc002rys.2_Silent_p.G438G|CCDC88A_uc002ryw.2_Silent_p.G736G|CCDC88A_uc010fby.1_Silent_p.G332G	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1453					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						CCAAGGTCTGGCCATCTTCTA	0.403												
CCDC88A	55704	broad.mit.edu	37	2	55589575	55589575	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55589575T>C	uc002ryv.2	-	7	1338	c.496A>G	c.(496-498)AAT>GAT	p.N166D	CCDC88A_uc010yoz.1_Missense_Mutation_p.N166D|CCDC88A_uc010ypa.1_Missense_Mutation_p.N166D|CCDC88A_uc010ypb.1_Missense_Mutation_p.N68D	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	166					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTTTCCTGATTATGAGTTACC	0.333												
BCL11A	53335	broad.mit.edu	37	2	60688807	60688807	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:60688807A>G	uc002sae.1	-	4	1468	c.1240T>C	c.(1240-1242)TGC>CGC	p.C414R	BCL11A_uc002sab.2_Missense_Mutation_p.C414R|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.C83R|BCL11A_uc010ypj.1_Missense_Mutation_p.C380R|BCL11A_uc002sad.1_Missense_Mutation_p.C262R|BCL11A_uc002saf.1_Missense_Mutation_p.C380R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	414	C2H2-type 3.				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)			GCCTGGGTGCACGCGTGGTCG	0.612			T	IGH@	B-CLL							
PAPOLG	64895	broad.mit.edu	37	2	61020810	61020810	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:61020810A>G	uc002sai.2	+	18	1959	c.1728A>G	c.(1726-1728)GTA>GTG	p.V576V	PAPOLG_uc002saj.2_Silent_p.V265V|PAPOLG_uc002sak.2_Silent_p.V111V|PAPOLG_uc010fch.2_Silent_p.V265V	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	576					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CACTGAGTGTACCACCAGCCC	0.303												
USP34	9736	broad.mit.edu	37	2	61455842	61455842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:61455842G>A	uc002sbe.2	-	61	7403	c.7381C>T	c.(7381-7383)CTT>TTT	p.L2461F	USP34_uc002sbf.2_Missense_Mutation_p.L611F	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2461					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			TGCAATGAAAGCAAAAATTGG	0.274												
TMEM17	200728	broad.mit.edu	37	2	62729571	62729571	+	Splice_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:62729571C>T	uc002sbt.2	-	3	658	c.318_splice	c.e3+1	p.K106_splice	TMEM17_uc002sbu.2_Missense_Mutation_p.V107I|TMEM17_uc002sbv.1_Missense_Mutation_p.V82I	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	transmembrane protein 17							integral to membrane					0	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AAAGAGCTTACCTTCTCCTGT	0.294												
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:63281286C>T	uc002scd.2	+	4	450	c.202C>T	c.(202-204)CGG>TGG	p.R68W	OTX1_uc010ypt.1_Missense_Mutation_p.R2W	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662												
CEP68	23177	broad.mit.edu	37	2	65299970	65299970	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:65299970C>T	uc002sdl.3	+	3	1954	c.1740C>T	c.(1738-1740)CTC>CTT	p.L580L	CEP68_uc002sdj.2_Silent_p.L580L|CEP68_uc010yqb.1_Silent_p.L580L|CEP68_uc002sdk.3_Intron|CEP68_uc010yqc.1_Silent_p.L580L|CEP68_uc010yqd.1_Silent_p.L580L	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	580					centrosome organization	centrosome				skin(1)	1						GCCAGGCCCTCGGGGTCTCCT	0.632												
ACTR2	10097	broad.mit.edu	37	2	65495711	65495711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:65495711G>A	uc002sdq.2	+	9	1243	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	ACTR2_uc002sdp.2_Missense_Mutation_p.R348H|ACTR2_uc010yqg.1_Missense_Mutation_p.R291H	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	343					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0						TTTAAGATCCGCATTGAAGAC	0.308												
MCEE	84693	broad.mit.edu	37	2	71351415	71351415	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71351415T>A	uc002shs.2	-	2	344	c.299A>T	c.(298-300)CAT>CTT	p.H100L		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase precursor	100					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			ovary(1)	1						TCCCAATGGATGAAGCAGTTC	0.438												
DYSF	8291	broad.mit.edu	37	2	71742841	71742841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71742841G>A	uc002sie.2	+	7	1128	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	DYSF_uc010feg.2_Missense_Mutation_p.R282Q|DYSF_uc010feh.2_Missense_Mutation_p.R251Q|DYSF_uc002sig.3_Missense_Mutation_p.R251Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R251Q|DYSF_uc010fef.2_Missense_Mutation_p.R282Q|DYSF_uc010fei.2_Missense_Mutation_p.R282Q|DYSF_uc010fek.2_Missense_Mutation_p.R283Q|DYSF_uc010fej.2_Missense_Mutation_p.R252Q|DYSF_uc010fel.2_Missense_Mutation_p.R252Q|DYSF_uc010feo.2_Missense_Mutation_p.R283Q|DYSF_uc010fem.2_Missense_Mutation_p.R252Q|DYSF_uc010fen.2_Missense_Mutation_p.R283Q|DYSF_uc002sif.2_Missense_Mutation_p.R252Q	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	251	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CAGACCAAGCGGACGCGGATC	0.607												
DYSF	8291	broad.mit.edu	37	2	71743355	71743355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:71743355G>T	uc002sie.2	+	8	1214	c.838G>T	c.(838-840)GAG>TAG	p.E280*	DYSF_uc010feg.2_Nonsense_Mutation_p.E311*|DYSF_uc010feh.2_Nonsense_Mutation_p.E280*|DYSF_uc002sig.3_Nonsense_Mutation_p.E280*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.E280*|DYSF_uc010fef.2_Nonsense_Mutation_p.E311*|DYSF_uc010fei.2_Nonsense_Mutation_p.E311*|DYSF_uc010fek.2_Nonsense_Mutation_p.E312*|DYSF_uc010fej.2_Nonsense_Mutation_p.E281*|DYSF_uc010fel.2_Nonsense_Mutation_p.E281*|DYSF_uc010feo.2_Nonsense_Mutation_p.E312*|DYSF_uc010fem.2_Nonsense_Mutation_p.E281*|DYSF_uc010fen.2_Nonsense_Mutation_p.E312*|DYSF_uc002sif.2_Nonsense_Mutation_p.E281*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	280	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTGTTTGATGAGCCCATCTT	0.453												
EXOC6B	23233	broad.mit.edu	37	2	72719508	72719508	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:72719508G>C	uc010fep.2	-	16	1742	c.1604C>G	c.(1603-1605)ACC>AGC	p.T535S	EXOC6B_uc002sij.2_Missense_Mutation_p.T535S	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	535					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CAGAGTCCTGGTTAGCAACAG	0.413												
SPR	6697	broad.mit.edu	37	2	73115582	73115582	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73115582C>A	uc002sik.2	+	2	494	c.444C>A	c.(442-444)CTC>CTA	p.L148L		NM_003124	NP_003115	P35270	SPRE_HUMAN	sepiapterin reductase	148					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			ovary(2)	2						GTCCTGGCCTCAACAGAACCG	0.557											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EMX1	2016	broad.mit.edu	37	2	73151580	73151580	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73151580G>A	uc002sin.1	+	2	1041	c.663G>A	c.(661-663)GAG>GAA	p.E221E	EMX1_uc002sim.1_Missense_Mutation_p.A174T	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	188	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGGGCGCCGAGCGGAAGCAGC	0.711												
EGR4	1961	broad.mit.edu	37	2	73519506	73519506	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73519506G>A	uc010yrj.1	-	2	924	c.849C>T	c.(847-849)CCC>CCT	p.P283P	EGR4_uc010yrk.1_Silent_p.P282P	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	179						intracellular	nucleic acid binding|zinc ion binding				0						GCTTGACGTCGGGCGGGGAGA	0.711												
EGR4	1961	broad.mit.edu	37	2	73519605	73519605	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:73519605C>T	uc010yrj.1	-	2	825	c.750G>A	c.(748-750)CCG>CCA	p.P250P	EGR4_uc010yrk.1_Silent_p.P249P	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	146						intracellular	nucleic acid binding|zinc ion binding				0						CGCCCAGATCCGGGGAGTAAA	0.701												
ACTG2	72	broad.mit.edu	37	2	74135805	74135805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74135805G>A	uc002sjw.2	+	4	383	c.261G>A	c.(259-261)TGG>TGA	p.W87*	ACTG2_uc010fey.2_Nonsense_Mutation_p.W87*|ACTG2_uc010yrn.1_Nonsense_Mutation_p.W44*	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	87					muscle contraction	cytoskeleton|cytosol	ATP binding				0						ACTAGATCTGGCACCACTCCT	0.522												
TET3	200424	broad.mit.edu	37	2	74273760	74273760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74273760C>T	uc002skb.3	+	1	311	c.311C>T	c.(310-312)CCC>CTC	p.P104L	TET3_uc010fez.1_Missense_Mutation_p.P104L	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	104							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGCAGGGGACCCCGGCCAGGG	0.627												
DCTN1	1639	broad.mit.edu	37	2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74597120C>T	uc002skx.2	-	13	1675	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	DCTN1_uc002skv.2_Missense_Mutation_p.R321H|DCTN1_uc002sku.2_Missense_Mutation_p.R321H|DCTN1_uc002skw.1_Missense_Mutation_p.R431H|DCTN1_uc010ffd.2_Missense_Mutation_p.R435H|DCTN1_uc002sky.2_Missense_Mutation_p.R418H	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	455	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						CCTCAACTCGCGCACTTTCTC	0.537												
SEMA4F	10505	broad.mit.edu	37	2	74902879	74902879	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74902879T>C	uc002sna.1	+	12	1597	c.1486T>C	c.(1486-1488)TGG>CGG	p.W496R	SEMA4F_uc010ffq.1_Missense_Mutation_p.W463R|SEMA4F_uc010ffr.1_Missense_Mutation_p.W108R|SEMA4F_uc002snb.1_Missense_Mutation_p.W108R|SEMA4F_uc002snc.1_Missense_Mutation_p.W341R	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	496	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TTTATAGAGCTGGCTCCTGGT	0.552												
MRPL19	9801	broad.mit.edu	37	2	75882354	75882354	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:75882354T>C	uc002snl.2	+	6	847	c.822T>C	c.(820-822)GAT>GAC	p.D274D	MRPL19_uc002snm.1_Silent_p.D274D	NM_014763	NP_055578	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19 precursor	274					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0						GGGAATATGATACTTCAAAAA	0.363												
LRRTM1	347730	broad.mit.edu	37	2	80530382	80530382	+	Missense_Mutation	SNP	T	T	G	rs151115994		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:80530382T>G	uc002sok.1	-	2	833	c.563A>C	c.(562-564)AAG>ACG	p.K188T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	188	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCGAGAAACTTGAGGCTGCG	0.587										HNSCC(69;0.2)		
POLR1A	25885	broad.mit.edu	37	2	86269169	86269169	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:86269169C>T	uc002sqs.2	-	24	3794	c.3415G>A	c.(3415-3417)GCG>ACG	p.A1139T	POLR1A_uc010ytb.1_Missense_Mutation_p.A505T|POLR1A_uc002sqt.1_Missense_Mutation_p.A162T	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1139					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						CAAGCGGCCGCCTTCTTCTGG	0.493												
IMMT	10989	broad.mit.edu	37	2	86386722	86386722	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:86386722A>G	uc002sqz.3	-	9	1357	c.969T>C	c.(967-969)CAT>CAC	p.H323H	IMMT_uc002sqy.3_Silent_p.H64H|IMMT_uc002srb.3_Silent_p.H312H|IMMT_uc002sra.3_Silent_p.H322H|IMMT_uc010ytd.1_Silent_p.H311H|IMMT_uc010yte.1_Silent_p.H276H|IMMT_uc002src.1_Silent_p.H64H|IMMT_uc002srd.2_Silent_p.H323H|IMMT_uc002sre.3_Silent_p.H311H|IMMT_uc010ytf.1_Silent_p.H245H|IMMT_uc010fgs.1_Silent_p.H320H	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	323	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						CAGCAGTTATATGAGGCTTGG	0.338												
CD8A	925	broad.mit.edu	37	2	87017544	87017544	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:87017544C>A	uc002srt.2	-	2	1199	c.310G>T	c.(310-312)GAC>TAC	p.D104Y	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.D104Y|CD8A_uc010ytn.1_Missense_Mutation_p.D145Y|CD8A_uc002sru.2_Missense_Mutation_p.D104Y	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	104	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.D104N(1)		ovary(1)	1						CGGCGGAAGTCGCTCAGGGTG	0.617												
SMYD1	150572	broad.mit.edu	37	2	88405999	88405999	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88405999C>G	uc002ssr.2	+	8	1139	c.1137C>G	c.(1135-1137)GAC>GAG	p.D379E	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.D75E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						GGATGGTGGACGGCTATATGT	0.408												
THNSL2	55258	broad.mit.edu	37	2	88474836	88474836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88474836G>A	uc002ssz.3	+	4	640	c.487G>A	c.(487-489)GTT>ATT	p.V163I	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.V163I|THNSL2_uc002ssx.3_Missense_Mutation_p.V131I|THNSL2_uc002sta.3_Missense_Mutation_p.V5I|THNSL2_uc002ssy.3_Missense_Mutation_p.V163I|THNSL2_uc010fhe.2_Missense_Mutation_p.V5I	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	163					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						GGACATTATCGTTCTGCTGCC	0.512												
THNSL2	55258	broad.mit.edu	37	2	88478470	88478470	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:88478470A>T	uc002ssz.3	+	5	893	c.740A>T	c.(739-741)GAC>GTC	p.D247V	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.D247V|THNSL2_uc002ssx.3_Missense_Mutation_p.D215V|THNSL2_uc002sta.3_Missense_Mutation_p.D89V|THNSL2_uc002ssy.3_Missense_Mutation_p.D247V|THNSL2_uc010fhe.2_Missense_Mutation_p.D89V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	247					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						CCATCCTTGGACACACATCCC	0.552												
TEKT4	150483	broad.mit.edu	37	2	95541412	95541412	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:95541412A>G	uc002stw.1	+	5	1109	c.1016A>G	c.(1015-1017)CAC>CGC	p.H339R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	339					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GCACCTCTGCACGTAGCCCAG	0.617												
FAHD2A	51011	broad.mit.edu	37	2	96072863	96072863	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96072863C>T	uc002sur.2	+	3	599	c.420C>T	c.(418-420)ATC>ATT	p.I140I	FAHD2A_uc002sus.2_Silent_p.I140I	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	140							hydrolase activity|metal ion binding			ovary(1)	1						CCAGCTCCATCGTGGGGCCCT	0.577												
ASTL	431705	broad.mit.edu	37	2	96789628	96789628	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96789628A>G	uc010yui.1	-	9	1257	c.1257T>C	c.(1255-1257)TGT>TGC	p.C419C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	419					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TTCTAGGTACACAGCCCCCTG	0.592												
ASTL	431705	broad.mit.edu	37	2	96803388	96803388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96803388G>A	uc010yui.1	-	2	107	c.107C>T	c.(106-108)ACC>ATC	p.T36I		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	36					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TGGGAAGCTGGTACCACAGGC	0.622												
DUSP2	1844	broad.mit.edu	37	2	96810096	96810096	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:96810096A>G	uc002svk.3	-	3	613	c.527T>C	c.(526-528)ATC>ACC	p.I176T		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	176					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				GTAGGGCAAGATCTCCACAGG	0.672												
ARID5A	10865	broad.mit.edu	37	2	97217936	97217936	+	Silent	SNP	G	G	A	rs138653819		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97217936G>A	uc002swe.2	+	7	1771	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T	ARID5A_uc010yuq.1_Silent_p.T505T|ARID5A_uc002swf.2_Silent_p.T393T|ARID5A_uc002swg.2_Silent_p.T505T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	557					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						TCCCCCCAACGTCCTTCGACA	0.672												
FER1L5	90342	broad.mit.edu	37	2	97369324	97369324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97369324G>A	uc010fia.2	+	50	5864	c.5864G>A	c.(5863-5865)CGA>CAA	p.R1955Q	FER1L5_uc002sws.3_Missense_Mutation_p.R664Q|FER1L5_uc002swt.3_Missense_Mutation_p.R664Q|FER1L5_uc010yus.1_Missense_Mutation_p.R663Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1955						integral to membrane				ovary(1)	1						CCAGCCGGGCGAGGCCAGTCG	0.562												
FAM178B	51252	broad.mit.edu	37	2	97543757	97543757	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97543757A>G	uc002sxl.3	-	16	2128	c.1781T>C	c.(1780-1782)ATG>ACG	p.M594T	FAM178B_uc002sxi.3_Missense_Mutation_p.M85T|FAM178B_uc002sxk.3_Missense_Mutation_p.M309T|FAM178B_uc002sxj.3_Missense_Mutation_p.M66T	NM_001122646	NP_001116118	Q8IXR5	F178B_HUMAN	hypothetical protein LOC51252 isoform A	774											0						GTCCAACTGCATGCACAGCAG	0.632												
CNGA3	1261	broad.mit.edu	37	2	98994199	98994199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:98994199G>A	uc002syt.2	+	3	568	c.151G>A	c.(151-153)GCC>ACC	p.A51T	CNGA3_uc002syu.2_Missense_Mutation_p.A51T|CNGA3_uc010fij.2_5'UTR	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	51					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCGGGGATCGCCATGGAGAC	0.587												
C2orf55	343990	broad.mit.edu	37	2	99411026	99411026	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:99411026G>A	uc002szf.1	-	10	3152	c.2858C>T	c.(2857-2859)GCT>GTT	p.A953V		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	953											0						GTCACTCCAAGCTTGAGATTT	0.463												
NPAS2	4862	broad.mit.edu	37	2	101591324	101591324	+	Silent	SNP	G	G	T	rs144494121		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:101591324G>T	uc002tap.1	+	13	1486	c.1200G>T	c.(1198-1200)TCG>TCT	p.S400S	NPAS2_uc010yvt.1_Silent_p.S465S|NPAS2_uc010fit.1_5'UTR	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	400					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TGGGTGCCTCGGGCCTTAATA	0.542												
IL1R1	3554	broad.mit.edu	37	2	102781763	102781763	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:102781763A>G	uc002tbq.2	+	5	803	c.485A>G	c.(484-486)AAG>AGG	p.K162R	IL1R1_uc010fix.2_Missense_Mutation_p.K162R|IL1R1_uc002tbp.2_Missense_Mutation_p.K162R|IL1R1_uc002tbr.2_Missense_Mutation_p.K162R	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	162	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	CAGTGGTATAAGGTAATTTTA	0.308												
IL1R1	3554	broad.mit.edu	37	2	102782603	102782603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:102782603C>T	uc002tbq.2	+	6	835	c.517C>T	c.(517-519)CAC>TAC	p.H173Y	IL1R1_uc010fix.2_Missense_Mutation_p.H173Y|IL1R1_uc002tbp.2_Missense_Mutation_p.H173Y|IL1R1_uc002tbr.2_Missense_Mutation_p.H173Y	NM_000877	NP_000868	P14778	IL1R1_HUMAN	interleukin 1 receptor, type I precursor	173	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			skin(1)	1					Anakinra(DB00026)	TGACAATATACACTTTAGTGG	0.413												
POU3F3	5455	broad.mit.edu	37	2	105472990	105472990	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:105472990C>T	uc010ywg.1	+	1	1022	c.1022C>T	c.(1021-1023)GCC>GTC	p.A341V		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	341	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						TTCACGCAGGCCGACGTGGGG	0.642												
MRPS9	64965	broad.mit.edu	37	2	105716151	105716151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:105716151C>T	uc002tcn.3	+	11	1191	c.1123C>T	c.(1123-1125)CGT>TGT	p.R375C		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	375					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TACTGATCCACGTGTGAGGGA	0.473												
LIMS1	3987	broad.mit.edu	37	2	109292351	109292351	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109292351A>G	uc002teg.2	+	6	631	c.512A>G	c.(511-513)GAT>GGT	p.D171G	LIMS1_uc002tef.2_Missense_Mutation_p.D183G|LIMS1_uc002teh.2_Missense_Mutation_p.D171G|LIMS1_uc002tei.2_Missense_Mutation_p.D171G|LIMS1_uc002tej.2_Missense_Mutation_p.D208G|LIMS1_uc002tek.3_Missense_Mutation_p.D233G	NM_004987	NP_004978	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	171	LIM zinc-binding 3.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding				0						CTGACTGCCGATGCACGGGAG	0.537												
RANBP2	5903	broad.mit.edu	37	2	109388156	109388156	+	Splice_Site	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109388156G>T	uc002tem.3	+	21	7976	c.7850_splice	c.e21-1	p.A2617_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						TGGTGTTACAGCAAAAGAGAA	0.348												
BUB1	699	broad.mit.edu	37	2	111413438	111413438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:111413438C>T	uc002tgc.2	-	16	1866	c.1754G>A	c.(1753-1755)CGC>CAC	p.R585H	BUB1_uc010yxh.1_Missense_Mutation_p.R565H|BUB1_uc010fkb.2_Missense_Mutation_p.R585H	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	585					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTGTTGCAGCGAATACCCCA	0.468												
BCL2L11	10018	broad.mit.edu	37	2	111881525	111881525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:111881525C>T	uc002tgv.1	+	2	491	c.203C>T	c.(202-204)GCC>GTC	p.A68V	BCL2L11_uc002tgt.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgw.1_Intron|BCL2L11_uc002tgx.1_Intron|BCL2L11_uc010fkd.1_Intron|BCL2L11_uc002tgy.1_Intron|BCL2L11_uc002tgz.1_Intron|BCL2L11_uc010fke.1_Intron|BCL2L11_uc002tha.1_Missense_Mutation_p.A68V|BCL2L11_uc002thb.1_Intron|BCL2L11_uc002thc.1_Intron|BCL2L11_uc002thd.1_Intron	NM_138621	NP_619527	O43521	B2L11_HUMAN	BCL2-like 11 isoform 1	68					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding|protein binding				0						GCCCCACCTGCCAGCCCTGGC	0.577												
CLASP1	23332	broad.mit.edu	37	2	122286340	122286340	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:122286340T>C	uc002tnc.2	-	4	681	c.291A>G	c.(289-291)ATA>ATG	p.I97M	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I97M|CLASP1_uc010yza.1_Missense_Mutation_p.I97M|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.I97M|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	97	HEAT 1.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CTAGTCTGTCTATTAGACTTG	0.453												
IWS1	55677	broad.mit.edu	37	2	128249592	128249592	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128249592G>T	uc002ton.2	-	10	2305	c.2002C>A	c.(2002-2004)CCC>ACC	p.P668T	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	668	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GACTCCTTGGGGTGTTTATAG	0.413												
SAP130	79595	broad.mit.edu	37	2	128750826	128750826	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128750826T>C	uc002tpp.2	-	12	1622	c.1490A>G	c.(1489-1491)TAC>TGC	p.Y497C	SAP130_uc002tpn.2_Missense_Mutation_p.Y258C|SAP130_uc002tpo.2_Missense_Mutation_p.Y242C|SAP130_uc010fmd.2_Missense_Mutation_p.Y497C|SAP130_uc002tpq.1_Missense_Mutation_p.Y470C	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	497					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCAGTGGGTATGCAGAAGG	0.453												
CCDC74B	91409	broad.mit.edu	37	2	130897491	130897491	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:130897491A>G	uc002tqm.1	-	7	1042	c.980T>C	c.(979-981)GTC>GCC	p.V327A	CCDC74B_uc010yzw.1_Missense_Mutation_p.V429A|CCDC74B_uc002tqn.1_Missense_Mutation_p.V261A	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	327											0	Colorectal(110;0.1)					CTTGGTGGAGACCTTGGGGAA	0.637												
SMPD4	55627	broad.mit.edu	37	2	130912735	130912735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:130912735C>T	uc002tqq.1	-	15	2024	c.1504G>A	c.(1504-1506)GCG>ACG	p.A502T	SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A241T|SMPD4_uc010yzy.1_Missense_Mutation_p.A251T|SMPD4_uc010yzz.1_Missense_Mutation_p.A166T|SMPD4_uc002tqr.1_Missense_Mutation_p.A473T|SMPD4_uc002tqs.1_Missense_Mutation_p.A370T|SMPD4_uc002tqt.1_Missense_Mutation_p.A351T|SMPD4_uc010zaa.1_Missense_Mutation_p.A360T|SMPD4_uc010zab.1_Missense_Mutation_p.A400T|SMPD4_uc010zac.1_Missense_Mutation_p.A243T|SMPD4_uc010zad.1_Missense_Mutation_p.A138T	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	463					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ACCATGAGCGCGTGCTTGGGG	0.582												
TUBA3D	113457	broad.mit.edu	37	2	132237972	132237972	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:132237972T>C	uc002tsu.3	+	4	813	c.706T>C	c.(706-708)TCC>CCC	p.S236P		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	236					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCAGATCGTGTCCTCCATCAC	0.552												
UBXN4	23190	broad.mit.edu	37	2	136530012	136530012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:136530012G>A	uc002tur.2	+	9	1156	c.845G>A	c.(844-846)CGT>CAT	p.R282H	UBXN4_uc002tus.2_Missense_Mutation_p.R48H	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	282	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						AGAGCTGCTCGTTTTGCAAAG	0.413												
LRP1B	53353	broad.mit.edu	37	2	141143483	141143483	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141143483T>C	uc002tvj.1	-	67	11482	c.10510A>G	c.(10510-10512)AAT>GAT	p.N3504D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3504	Extracellular (Potential).|LDL-receptor class A 25.				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)		TCATCTGAATTATCACTGCAG	0.373										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141356355	141356355	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141356355A>G	uc002tvj.1	-	43	8011	c.7039T>C	c.(7039-7041)TCT>CCT	p.S2347P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2347	Extracellular (Potential).|LDL-receptor class B 25.				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)		GTCAGAGTAGATCTCATGATA	0.358										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141806579	141806579	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:141806579C>G	uc002tvj.1	-	11	2737	c.1765G>C	c.(1765-1767)GAG>CAG	p.E589Q	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	589	Extracellular (Potential).|LDL-receptor class B 5.				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)		GTTTCTCTCTCTGTGCCATCT	0.428										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	142238089	142238089	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:142238089T>C	uc002tvj.1	-	3	1191	c.219A>G	c.(217-219)GTA>GTG	p.V73V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	73	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)		ACTTGATTTCTACCTCCTCGG	0.398										TSP Lung(27;0.18)		
KYNU	8942	broad.mit.edu	37	2	143676273	143676273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143676273G>A	uc002tvl.2	+	3	395	c.265G>A	c.(265-267)GAA>AAA	p.E89K	KYNU_uc002tvk.2_Missense_Mutation_p.E89K|KYNU_uc010fnm.2_Missense_Mutation_p.E89K	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	89					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATATCTTGAAGAAGAACTAGA	0.289												
KYNU	8942	broad.mit.edu	37	2	143718341	143718341	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143718341T>C	uc002tvl.2	+	8	859	c.729_splice	c.e8+2	p.K243_splice	KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAGCGAAGGTATGCACGCCA	0.428												
ARHGAP15	55843	broad.mit.edu	37	2	143913190	143913190	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:143913190T>C	uc002tvm.3	+	2	282	c.131T>C	c.(130-132)ATG>ACG	p.M44T	ARHGAP15_uc010zbl.1_Missense_Mutation_p.M44T	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	44					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGTAAATCCATGATCCTCACC	0.433												
ARHGAP15	55843	broad.mit.edu	37	2	144276929	144276929	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:144276929A>G	uc002tvm.3	+	10	1072	c.921A>G	c.(919-921)AAA>AAG	p.K307K	ARHGAP15_uc002tvn.2_Silent_p.K73K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	307	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTGTTGAGAAAAGAGGTGGGT	0.453												
ZEB2	9839	broad.mit.edu	37	2	145187336	145187336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:145187336C>A	uc002tvu.2	-	3	811	c.331G>T	c.(331-333)GAA>TAA	p.E111*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.E106*|ZEB2_uc010zbm.1_Missense_Mutation_p.V106L|ZEB2_uc010fnp.2_Missense_Mutation_p.D106Y|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E140*|ZEB2_uc002tvw.2_Missense_Mutation_p.G106C	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	111						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)		AGACACTTACCTGGACCATCT	0.448												
KIF5C	3800	broad.mit.edu	37	2	149868108	149868108	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:149868108A>G	uc010zbu.1	+	25	3160	c.2792A>G	c.(2791-2793)TAC>TGC	p.Y931C	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.Y213C	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	931	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCCGGACACTACCCGGCCTCA	0.498												
RIF1	55183	broad.mit.edu	37	2	152273138	152273138	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152273138T>C	uc002txm.2	+	5	474	c.344T>C	c.(343-345)GTA>GCA	p.V115A	RIF1_uc002txl.2_Missense_Mutation_p.V115A|RIF1_uc010fnv.1_Missense_Mutation_p.V79A|RIF1_uc002txn.2_Missense_Mutation_p.V115A|RIF1_uc002txo.2_Missense_Mutation_p.V115A|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	115					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GACAAAAATGTACGTACTAGA	0.343												
RIF1	55183	broad.mit.edu	37	2	152273371	152273371	+	Silent	SNP	G	G	A	rs149505451	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152273371G>A	uc002txm.2	+	6	589	c.459G>A	c.(457-459)ACG>ACA	p.T153T	RIF1_uc002txl.2_Silent_p.T153T|RIF1_uc010fnv.1_Silent_p.T117T|RIF1_uc002txn.2_Silent_p.T153T|RIF1_uc002txo.2_Silent_p.T153T|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	153					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGGAGAGACGCATTCTGCTG	0.299												
ARL5A	26225	broad.mit.edu	37	2	152670734	152670734	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152670734A>G	uc002txx.1	-	3	523	c.204T>C	c.(202-204)GGT>GGC	p.G68G	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Silent_p.G31G|ARL5A_uc002txw.1_Silent_p.G31G	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	68	GTP (By similarity).				small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)		ATTCTTGGCCACCAATATCCC	0.333												
STAM2	10254	broad.mit.edu	37	2	152982811	152982811	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:152982811C>G	uc002tyc.3	-	12	1458	c.1108G>C	c.(1108-1110)GTG>CTG	p.V370L	STAM2_uc010foa.1_Missense_Mutation_p.V370L	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	370	ITAM.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACTGAGTACACTGGTGCTTCA	0.408												
KCNJ3	3760	broad.mit.edu	37	2	155555563	155555563	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:155555563C>T	uc002tyv.1	+	1	471	c.276C>T	c.(274-276)ACC>ACT	p.T92T	KCNJ3_uc010zce.1_Silent_p.T92T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	92	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TCACCTACACCGTGGCCTGGC	0.597												
UPP2	151531	broad.mit.edu	37	2	158978111	158978111	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:158978111T>C	uc002tzp.2	+	5	839	c.645T>C	c.(643-645)TGT>TGC	p.C215C	UPP2_uc002tzo.2_Silent_p.C272C	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	215					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						ATACAATGTGTACCTATGATT	0.368												
UPP2	151531	broad.mit.edu	37	2	158978125	158978125	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:158978125A>T	uc002tzp.2	+	5	853	c.659A>T	c.(658-660)TAT>TTT	p.Y220F	UPP2_uc002tzo.2_Missense_Mutation_p.Y277F	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	220					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TATGATTTTTATGAAGGTGAG	0.353												
PKP4	8502	broad.mit.edu	37	2	159481713	159481713	+	Silent	SNP	C	C	T	rs150827409		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159481713C>T	uc002tzv.2	+	7	1187	c.927C>T	c.(925-927)ACC>ACT	p.T309T	PKP4_uc002tzt.1_Silent_p.T161T|PKP4_uc002tzu.2_Silent_p.T309T|PKP4_uc002tzw.2_Silent_p.T309T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.T307T|PKP4_uc002uaa.2_Silent_p.T161T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	309					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						ACCAAACCACCGCCAGAGTGG	0.627										HNSCC(62;0.18)		
TANC1	85461	broad.mit.edu	37	2	160028760	160028760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160028760G>A	uc002uag.2	+	11	1754	c.1480G>A	c.(1480-1482)GCA>ACA	p.A494T	TANC1_uc010fol.1_Missense_Mutation_p.A388T|TANC1_uc010zcm.1_Missense_Mutation_p.A486T|TANC1_uc010fom.1_Missense_Mutation_p.A300T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	494						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						AAGAGAGGATGCAGTGAAATA	0.428												
BAZ2B	29994	broad.mit.edu	37	2	160206353	160206353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160206353C>T	uc002uao.2	-	28	5081	c.4729G>A	c.(4729-4731)GAT>AAT	p.D1577N	BAZ2B_uc002uap.2_Missense_Mutation_p.D1541N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						GTTGACATATCGGCATGAGTA	0.463												
BAZ2B	29994	broad.mit.edu	37	2	160289437	160289437	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:160289437T>C	uc002uao.2	-	9	2083	c.1731A>G	c.(1729-1731)ACA>ACG	p.T577T	BAZ2B_uc002uap.2_Silent_p.T575T|BAZ2B_uc002uas.1_Silent_p.T514T|BAZ2B_uc002uaq.1_Silent_p.T505T|BAZ2B_uc002uar.1_Silent_p.T150T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AGTGATGCTGTGTTTTTACTG	0.413												
FIGN	55137	broad.mit.edu	37	2	164466663	164466663	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:164466663A>G	uc002uck.1	-	3	1990	c.1679T>C	c.(1678-1680)TTA>TCA	p.L560S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	560						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						TGCTTCTCCTAACCACTTGGC	0.498												
FIGN	55137	broad.mit.edu	37	2	164467532	164467532	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:164467532C>T	uc002uck.1	-	3	1121	c.810G>A	c.(808-810)CCG>CCA	p.P270P		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ACGCTGAAGGCGGAGGCGGTG	0.597												
GRB14	2888	broad.mit.edu	37	2	165364963	165364963	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:165364963A>G	uc002ucl.2	-	8	1564	c.1023_splice	c.e8+1	p.K341_splice	GRB14_uc010zcv.1_Splice_Site_p.K254_splice|GRB14_uc002ucm.2_Splice_Site	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						CGGCGAGATTACCTTAAGCAA	0.468												
COBLL1	22837	broad.mit.edu	37	2	165551885	165551885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:165551885C>T	uc010zcw.1	-	15	2456	c.2332G>A	c.(2332-2334)GTA>ATA	p.V778I	COBLL1_uc002ucp.2_Missense_Mutation_p.V711I|COBLL1_uc002ucq.2_Missense_Mutation_p.V673I|COBLL1_uc010zcx.1_Missense_Mutation_p.V719I|COBLL1_uc002ucn.2_Missense_Mutation_p.V139I|COBLL1_uc002uco.2_Missense_Mutation_p.V442I	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	749										ovary(2)|pancreas(1)	3						GGATCTTTTACGGTAAGCGGA	0.383												
SCN3A	6328	broad.mit.edu	37	2	166019138	166019138	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166019138T>C	uc002ucx.2	-	8	1387	c.895A>G	c.(895-897)ATG>GTG	p.M299V	SCN3A_uc002ucy.2_Missense_Mutation_p.M299V|SCN3A_uc002ucz.2_Missense_Mutation_p.M299V|SCN3A_uc002uda.1_Missense_Mutation_p.M168V|SCN3A_uc002udb.1_Missense_Mutation_p.M168V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	299						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TTTGAATCCATTGTGCCATTA	0.393												
SCN2A	6326	broad.mit.edu	37	2	166226695	166226695	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166226695T>C	uc002udc.2	+	20	4025	c.3735T>C	c.(3733-3735)GCT>GCC	p.A1245A	SCN2A_uc002udd.2_Silent_p.A1245A|SCN2A_uc002ude.2_Silent_p.A1245A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1245	Helical; Name=S2 of repeat III; (Potential).|III.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TAGAATATGCTGACAAGGTTT	0.348												
SCN2A	6326	broad.mit.edu	37	2	166243472	166243472	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166243472T>C	uc002udc.2	+	26	5058	c.4768T>C	c.(4768-4770)TTC>CTC	p.F1590L	SCN2A_uc002udd.2_Missense_Mutation_p.F1590L|SCN2A_uc002ude.2_Missense_Mutation_p.F1590L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1590	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TTACTACTATTTCACTATTGG	0.343												
TTC21B	79809	broad.mit.edu	37	2	166747086	166747086	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166747086C>T	uc002udk.2	-	24	3299	c.3166G>A	c.(3166-3168)GGC>AGC	p.G1056S	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1056	TPR 16.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCATTTTGGCCCCAGTCACGA	0.378												
SCN9A	6335	broad.mit.edu	37	2	167083198	167083198	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:167083198T>C	uc010fpl.2	-	24	4585	c.4244A>G	c.(4243-4245)AAA>AGA	p.K1415R	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1426	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATATTCATATTTGGGCTGCTT	0.303												
XIRP2	129446	broad.mit.edu	37	2	167760302	167760302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:167760302C>T	uc002udx.2	+	1	328	c.310C>T	c.(310-312)CGG>TGG	p.R104W	XIRP2_uc010fpn.2_Missense_Mutation_p.R104W|XIRP2_uc010fpo.2_Missense_Mutation_p.R104W|XIRP2_uc010fpp.2_Missense_Mutation_p.R104W	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CCTGAGCAGTCGGCGCAGGAT	0.517												
XIRP2	129446	broad.mit.edu	37	2	168101702	168101702	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:168101702T>G	uc002udx.2	+	8	3818	c.3800T>G	c.(3799-3801)ATA>AGA	p.I1267R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I1092R|XIRP2_uc010fpq.2_Missense_Mutation_p.I1045R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1092					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTGACAGACATACAAGGTGGG	0.348												
STK39	27347	broad.mit.edu	37	2	169103919	169103919	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:169103919C>T	uc002uea.2	-	1	187	c.27G>A	c.(25-27)GTG>GTA	p.V9V		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	serine threonine kinase 39 (STE20/SPS1 homolog,	9					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2						GCTGGACGTGCACGGGCGAGC	0.448												
TLK1	9874	broad.mit.edu	37	2	171914690	171914690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:171914690G>A	uc002ugn.2	-	5	896	c.424C>T	c.(424-426)CGT>TGT	p.R142C	TLK1_uc002ugo.2_Missense_Mutation_p.R163C|TLK1_uc002ugp.2_Missense_Mutation_p.R94C|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.R46C	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	142					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TTGTGGCCACGTCCCCCAATA	0.373												
CYBRD1	79901	broad.mit.edu	37	2	172398264	172398264	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:172398264C>T	uc002ugy.3	+	2	553	c.363C>T	c.(361-363)AGC>AGT	p.S121S	CYBRD1_uc002ugz.3_Intron	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	121	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GTCTGCACAGCTGGGTTGGAC	0.378												
SP3	6670	broad.mit.edu	37	2	174820514	174820514	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:174820514A>G	uc002uig.2	-	4	890	c.726T>C	c.(724-726)GGT>GGC	p.G242G	SP3_uc002uie.2_Silent_p.G174G|SP3_uc002uif.2_Silent_p.G189G|SP3_uc010zel.1_Silent_p.G239G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	242					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AAGATGAACCACCAATTGCAA	0.438												
CHRNA1	1134	broad.mit.edu	37	2	175618330	175618330	+	Missense_Mutation	SNP	T	T	C	rs111856577		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:175618330T>C	uc002ujd.2	-	7	832	c.754A>G	c.(754-756)ATG>GTG	p.M252V	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M227V|CHRNA1_uc002ujf.3_Missense_Mutation_p.M227V	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	252	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGGCGCTGCATGACGAAGTGG	0.592												
KIAA1715	80856	broad.mit.edu	37	2	176802227	176802227	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:176802227T>C	uc002ukc.1	-	12	1092	c.899A>G	c.(898-900)TAC>TGC	p.Y300C	KIAA1715_uc010zer.1_Missense_Mutation_p.Y331C|KIAA1715_uc010fqw.1_Missense_Mutation_p.Y366C|KIAA1715_uc010zes.1_Missense_Mutation_p.Y302C|KIAA1715_uc002ukd.1_Missense_Mutation_p.Y177C|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	300	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GAAAAAACAGTAGGCACATCG	0.388												
HOXD3	3232	broad.mit.edu	37	2	177034214	177034214	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:177034214G>A	uc002ukt.1	+	2	548	c.372G>A	c.(370-372)CCG>CCA	p.P124P		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	124	Poly-Pro.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ctccaccaccgaccctgcccc	0.483												
TTN	7273	broad.mit.edu	37	2	179391860	179391860	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179391860T>C	uc010zfg.1	-	312	100375	c.100151A>G	c.(100150-100152)GAC>GGC	p.D33384G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D27079G|TTN_uc010zfi.1_Missense_Mutation_p.D27012G|TTN_uc010zfj.1_Missense_Mutation_p.D26887G|TTN_uc002umq.2_Missense_Mutation_p.D300G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34311							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)			GGTTGTCAGGTCATCTGTGTT	0.463												
TTN	7273	broad.mit.edu	37	2	179446774	179446774	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179446774T>C	uc010zfg.1	-	264	58842	c.58618A>G	c.(58618-58620)AAA>GAA	p.K19540E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13235E|TTN_uc010zfi.1_Missense_Mutation_p.K13168E|TTN_uc010zfj.1_Missense_Mutation_p.K13043E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20467							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)			ATAATAGGTTTTCTGTTGACC	0.453												
TTN	7273	broad.mit.edu	37	2	179451486	179451486	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179451486T>C	uc010zfg.1	-	257	56662	c.56438A>G	c.(56437-56439)AAC>AGC	p.N18813S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N12508S|TTN_uc010zfi.1_Missense_Mutation_p.N12441S|TTN_uc010zfj.1_Missense_Mutation_p.N12316S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19740							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)			GGTGGCACTGTTCTTGGTCAT	0.453												
TTN	7273	broad.mit.edu	37	2	179483422	179483422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179483422G>A	uc010zfg.1	-	200	39375	c.39151C>T	c.(39151-39153)CAA>TAA	p.Q13051*	TTN_uc010zfh.1_Nonsense_Mutation_p.Q6746*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q6679*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q6554*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13978							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)			AAAGAAGTTTGTTCAGCCGTA	0.373												
TTN	7273	broad.mit.edu	37	2	179495802	179495802	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179495802T>C	uc010zfg.1	-	186	36493	c.36269A>G	c.(36268-36270)GAC>GGC	p.D12090G	TTN_uc010zfh.1_Missense_Mutation_p.D5785G|TTN_uc010zfi.1_Missense_Mutation_p.D5718G|TTN_uc010zfj.1_Missense_Mutation_p.D5593G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13017							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)			TGTCCCACAGTCACAGGTGTA	0.413												
TTN	7273	broad.mit.edu	37	2	179636101	179636101	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179636101T>A	uc010zfg.1	-	34	8177	c.7953A>T	c.(7951-7953)GAA>GAT	p.E2651D	TTN_uc010zfh.1_Missense_Mutation_p.E2605D|TTN_uc010zfi.1_Missense_Mutation_p.E2605D|TTN_uc010zfj.1_Missense_Mutation_p.E2605D|TTN_uc002unb.2_Missense_Mutation_p.E2651D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2651							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)			CCCTCAACCATTCGCCTTTGG	0.483												
CWC22	57703	broad.mit.edu	37	2	180815357	180815357	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:180815357C>T	uc010frh.1	-	19	2322	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A	CWC22_uc002uno.2_Silent_p.A196A|CWC22_uc002unp.2_Silent_p.A674A	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	674	Ser-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0						AAGAGGAGGACGCTGAAGAGG	0.473												
CERKL	375298	broad.mit.edu	37	2	182468700	182468700	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:182468700A>G	uc002unx.2	-	2	446	c.345T>C	c.(343-345)GGT>GGC	p.G115G	CERKL_uc002uny.2_Silent_p.G115G|CERKL_uc010zfm.1_Silent_p.G115G|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Silent_p.G115G|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Silent_p.G115G|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_5'UTR|CERKL_uc002uoe.2_Silent_p.G115G	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	115					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATAAAGTACCACTTCTCT	0.328												
ZNF804A	91752	broad.mit.edu	37	2	185801510	185801510	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:185801510G>A	uc002uph.2	+	4	1981	c.1387G>A	c.(1387-1389)GAC>AAC	p.D463N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	463						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TCTATGTTTTGACTTCAAGTC	0.353												
ZNF804A	91752	broad.mit.edu	37	2	185802505	185802505	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:185802505A>T	uc002uph.2	+	4	2976	c.2382A>T	c.(2380-2382)GAA>GAT	p.E794D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	794						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TACCAGAAGAATTTTTGAGGC	0.383												
COL3A1	1281	broad.mit.edu	37	2	189849518	189849518	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:189849518T>A	uc002uqj.1	+	2	229	c.112T>A	c.(112-114)TCC>ACC	p.S38T		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	38	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCTTGGTCAGTCCTATGCGGA	0.428												
COL5A2	1290	broad.mit.edu	37	2	189904010	189904010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:189904010C>T	uc002uqk.2	-	51	4188	c.3913G>A	c.(3913-3915)GCA>ACA	p.A1305T	COL5A2_uc010frx.2_Missense_Mutation_p.A881T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1305	Fibrillar collagen NC1.				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)			CTCTGCTTTGCGGAATGGCAA	0.433												
ANKAR	150709	broad.mit.edu	37	2	190557886	190557886	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:190557886G>A	uc002uqw.1	+	4	1077	c.1077G>A	c.(1075-1077)ATG>ATA	p.M359I	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	430						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TACCAGTCATGGAATTTCATG	0.289												
MFSD6	54842	broad.mit.edu	37	2	191301720	191301720	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:191301720A>T	uc002urz.2	+	3	1289	c.965A>T	c.(964-966)GAT>GTT	p.D322V		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	322					transmembrane transport	integral to membrane				ovary(2)	2						AAACACAGAGATCGCTATGGG	0.527												
DNAH7	56171	broad.mit.edu	37	2	196825456	196825456	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:196825456A>G	uc002utj.3	-	18	2520	c.2419T>C	c.(2419-2421)TTA>CTA	p.L807L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	807	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AGTTTATATAATCCTCTCCAG	0.378												
PLCL1	5334	broad.mit.edu	37	2	198950524	198950524	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:198950524T>C	uc010fsp.2	+	2	2574	c.2283T>C	c.(2281-2283)TGT>TGC	p.C761C	PLCL1_uc002uuv.3_Silent_p.C682C	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	761	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CAGCGGATTGTTCGGAACAAA	0.423												
SATB2	23314	broad.mit.edu	37	2	200245100	200245100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:200245100C>T	uc002uuy.1	-	5	1401	c.584G>A	c.(583-585)TGC>TAC	p.C195Y	SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.C195Y|SATB2_uc002uva.1_Missense_Mutation_p.C195Y	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	195						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGAGAGAGGGCATTCTTTGGC	0.502												
C2orf60	129450	broad.mit.edu	37	2	200800652	200800652	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:200800652A>G	uc002uvi.3	-	7	957	c.691_splice	c.e7+1	p.A231_splice	C2orf60_uc002uvj.3_Splice_Site_p.A68_splice|C2orf60_uc002uvk.3_Splice_Site|C2orf60_uc010fss.2_Splice_Site_p.A68_splice	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450						wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						TAGAAATCTTACCAGGAATGA	0.313												
STRADB	55437	broad.mit.edu	37	2	202337729	202337729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202337729C>T	uc002uyd.3	+	5	610	c.245C>T	c.(244-246)ACA>ATA	p.T82I		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	82	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						CATACTCCCACAGGAACACTG	0.333												
ALS2	57679	broad.mit.edu	37	2	202606542	202606542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202606542G>A	uc002uyo.2	-	11	2562	c.2206C>T	c.(2206-2208)CAG>TAG	p.Q736*	ALS2_uc002uyp.3_Nonsense_Mutation_p.Q736*|ALS2_uc002uyq.2_Nonsense_Mutation_p.Q736*|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	736	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						GCCACCTCCTGCAACAGCTGG	0.433												
CDK15	65061	broad.mit.edu	37	2	202712162	202712162	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:202712162T>C	uc002uyt.2	+	9	959	c.910T>C	c.(910-912)TCC>CCC	p.S304P	CDK15_uc010ftm.2_Missense_Mutation_p.S169P|CDK15_uc002uys.2_Missense_Mutation_p.S253P|CDK15_uc010ftn.1_Missense_Mutation_p.S253P|CDK15_uc010fto.1_Missense_Mutation_p.S283P	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	TCCTGGGGTTTCCAACATCCT	0.368												
WDR12	55759	broad.mit.edu	37	2	203764352	203764352	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:203764352A>G	uc002uzl.2	-	4	990	c.240T>C	c.(238-240)GTT>GTC	p.V80V	WDR12_uc010ftt.2_Silent_p.V80V	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	80					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTATTTCCACAACTTCTTCCT	0.388												
NBEAL1	65065	broad.mit.edu	37	2	204001465	204001465	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204001465A>G	uc002uzt.3	+	28	4779	c.4446A>G	c.(4444-4446)GAA>GAG	p.E1482E	NBEAL1_uc002uzs.3_Silent_p.E192E	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1482							binding			ovary(1)|skin(1)	2						TATCCAGTGAACTACTTCGAC	0.363												
ABI2	10152	broad.mit.edu	37	2	204292052	204292052	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204292052T>C	uc002vaa.2	+	11	1754	c.1519T>C	c.(1519-1521)TCT>CCT	p.S507P	ABI2_uc002uzz.2_Missense_Mutation_p.S469P|ABI2_uc010zih.1_Missense_Mutation_p.S155P|ABI2_uc010zii.1_Missense_Mutation_p.S501P|ABI2_uc010zij.1_Missense_Mutation_p.S384P|ABI2_uc002vab.2_Missense_Mutation_p.S395P|ABI2_uc010zik.1_Missense_Mutation_p.S232P|ABI2_uc010zil.1_Missense_Mutation_p.S371P|ABI2_uc010zim.1_Missense_Mutation_p.S320P|ABI2_uc002vac.2_Missense_Mutation_p.S293P|ABI2_uc010zin.1_Missense_Mutation_p.S184P	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	507	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						TTACGTTGAGTCTATCATGCA	0.458												
PARD3B	117583	broad.mit.edu	37	2	206480189	206480189	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:206480189C>T	uc002var.1	+	23	3477	c.3270C>T	c.(3268-3270)CCC>CCT	p.P1090P	PARD3B_uc002vao.1_Silent_p.P989P|PARD3B_uc002vap.1_Silent_p.P1028P|PARD3B_uc002vaq.1_Silent_p.P1021P|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1090					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGGAGGACCCGCAGATCCTG	0.413												
MAP2	4133	broad.mit.edu	37	2	210559232	210559232	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:210559232A>G	uc002vde.1	+	7	2586	c.2338A>G	c.(2338-2340)ACT>GCT	p.T780A	MAP2_uc002vdc.1_Missense_Mutation_p.T780A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T776A	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	780					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAAGAAAGTACTCAAGCGGA	0.453												
MAP2	4133	broad.mit.edu	37	2	210559555	210559555	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:210559555G>T	uc002vde.1	+	7	2909	c.2661G>T	c.(2659-2661)GAG>GAT	p.E887D	MAP2_uc002vdc.1_Missense_Mutation_p.E887D|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E883D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	887					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGACAGTGAGAATTTATCAG	0.448												
C2orf67	151050	broad.mit.edu	37	2	211018861	211018861	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211018861A>G	uc002vds.2	-	2	654	c.446T>C	c.(445-447)GTA>GCA	p.V149A	C2orf67_uc002vdt.2_Missense_Mutation_p.V149A|C2orf67_uc002vdw.2_Missense_Mutation_p.V149A|C2orf67_uc002vdy.1_Missense_Mutation_p.V149A|C2orf67_uc002vdv.2_Missense_Mutation_p.V149A|C2orf67_uc002vdx.1_Missense_Mutation_p.V149A	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	149										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AATAATTTGTACATCTTTCAT	0.353												
CPS1	1373	broad.mit.edu	37	2	211469862	211469862	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211469862T>C	uc002vee.3	+	17	2005	c.1873T>C	c.(1873-1875)TCA>CCA	p.S625P	CPS1_uc010fur.2_Missense_Mutation_p.S631P|CPS1_uc010fus.2_Missense_Mutation_p.S174P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	625	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTGGAGAAGTCAGTGACAGG	0.393												
CPS1	1373	broad.mit.edu	37	2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	rs147443001		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:211471538C>T	uc002vee.3	+	18	2197	c.2065C>T	c.(2065-2067)CGC>TGC	p.R689C	CPS1_uc010fur.2_Missense_Mutation_p.R695C|CPS1_uc010fus.2_Missense_Mutation_p.R238C	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	689	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAATGTTGTTCGCCACTTGGG	0.468												
SPAG16	79582	broad.mit.edu	37	2	215013877	215013877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215013877C>T	uc002veq.2	+	15	1699	c.1607C>T	c.(1606-1608)GCA>GTA	p.A536V	SPAG16_uc010fuz.1_Missense_Mutation_p.A387V|SPAG16_uc002ver.2_Missense_Mutation_p.A482V|SPAG16_uc010zjk.1_Missense_Mutation_p.A442V	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	536	WD 5.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CACATGATAGCATCCTGTGAT	0.294												
BARD1	580	broad.mit.edu	37	2	215632335	215632335	+	Missense_Mutation	SNP	A	A	G	rs149839922		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215632335A>G	uc002veu.2	-	6	1574	c.1439T>C	c.(1438-1440)TTG>TCG	p.L480S	BARD1_uc010zjm.1_Missense_Mutation_p.L336S	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	480	ANK 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATGCTGGAGCAATAATTCCAC	0.408									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
ABCA12	26154	broad.mit.edu	37	2	215838763	215838763	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:215838763C>T	uc002vew.2	-	36	5692	c.5472G>A	c.(5470-5472)CAG>CAA	p.Q1824Q	ABCA12_uc002vev.2_Silent_p.Q1506Q|ABCA12_uc010zjn.1_Silent_p.Q751Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1824					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTTAAACACTGTCTGCAAG	0.368												
FN1	2335	broad.mit.edu	37	2	216257711	216257711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216257711C>T	uc002vfa.2	-	25	4278	c.4012G>A	c.(4012-4014)GTT>ATT	p.V1338I	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.V1338I|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.V1338I|FN1_uc002vfj.2_Missense_Mutation_p.V1338I|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'UTR	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1338	Fibronectin type-III 8.|Cell-attachment.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTGATAACGCTGATATCA	0.463												
FN1	2335	broad.mit.edu	37	2	216271937	216271937	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216271937A>G	uc002vfa.2	-	18	2892	c.2626T>C	c.(2626-2628)TAT>CAT	p.Y876H	FN1_uc002vfb.2_Missense_Mutation_p.Y876H|FN1_uc002vfc.2_Missense_Mutation_p.Y876H|FN1_uc002vfd.2_Missense_Mutation_p.Y876H|FN1_uc002vfe.2_Missense_Mutation_p.Y876H|FN1_uc002vff.2_Missense_Mutation_p.Y876H|FN1_uc002vfg.2_Missense_Mutation_p.Y876H|FN1_uc002vfh.2_Missense_Mutation_p.Y876H|FN1_uc002vfi.2_Missense_Mutation_p.Y876H|FN1_uc002vfj.2_Missense_Mutation_p.Y876H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	876	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGATGTTATACTGAACACCA	0.433												
FN1	2335	broad.mit.edu	37	2	216274388	216274388	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216274388C>T	uc002vfa.2	-	15	2463	c.2197G>A	c.(2197-2199)GCC>ACC	p.A733T	FN1_uc002vfb.2_Missense_Mutation_p.A733T|FN1_uc002vfc.2_Missense_Mutation_p.A733T|FN1_uc002vfd.2_Missense_Mutation_p.A733T|FN1_uc002vfe.2_Missense_Mutation_p.A733T|FN1_uc002vff.2_Missense_Mutation_p.A733T|FN1_uc002vfg.2_Missense_Mutation_p.A733T|FN1_uc002vfh.2_Missense_Mutation_p.A733T|FN1_uc002vfi.2_Missense_Mutation_p.A733T|FN1_uc002vfj.2_Missense_Mutation_p.A733T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	733	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCTACTGGCTGTGATTTCG	0.537												
FN1	2335	broad.mit.edu	37	2	216299477	216299477	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:216299477C>T	uc002vfa.2	-	2	485	c.219G>A	c.(217-219)GCG>GCA	p.A73A	FN1_uc002vfb.2_Silent_p.A73A|FN1_uc002vfc.2_Silent_p.A73A|FN1_uc002vfd.2_Silent_p.A73A|FN1_uc002vfe.2_Silent_p.A73A|FN1_uc002vff.2_Silent_p.A73A|FN1_uc002vfg.2_Silent_p.A73A|FN1_uc002vfh.2_Silent_p.A73A|FN1_uc002vfi.2_Silent_p.A73A|FN1_uc002vfj.2_Silent_p.A73A|FN1_uc002vfl.2_Silent_p.A73A	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	73	Fibrin- and heparin-binding 1.|Fibronectin type-I 1.			A -> V (in Ref. 9; CAA26536).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TACAAACCAACGCATTGCCTA	0.403												
RPL37A	6168	broad.mit.edu	37	2	217364716	217364716	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:217364716C>A	uc002vgf.2	+	3	255	c.177C>A	c.(175-177)TCC>TCA	p.S59S	RPL37A_uc002vgg.2_Silent_p.S59S	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	59	C4-type.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGTGGTTCCTGCATGAAGA	0.463												
RNF25	64320	broad.mit.edu	37	2	219529962	219529962	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219529962G>A	uc002vit.2	-	8	670	c.582C>T	c.(580-582)GTC>GTT	p.V194V	RNF25_uc010fvw.2_Silent_p.V82V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	194	RING-type.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCACACCGACTGCCTTCT	0.532												
TTLL4	9654	broad.mit.edu	37	2	219616528	219616528	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219616528A>C	uc002viy.2	+	16	3345	c.2975A>C	c.(2974-2976)CAG>CCG	p.Q992P	TTLL4_uc010zkl.1_Missense_Mutation_p.Q827P|TTLL4_uc010fvx.2_Missense_Mutation_p.Q928P|TTLL4_uc010zkm.1_Missense_Mutation_p.Q195P	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	992					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		ATTCCTGATCAGGTAGGAGAT	0.443												
PRKAG3	53632	broad.mit.edu	37	2	219695557	219695557	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219695557T>A	uc002vjb.1	-	3	160	c.141A>T	c.(139-141)GAA>GAT	p.E47D	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.E47D|PRKAG3_uc010zko.1_Missense_Mutation_p.E47D	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	47					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGGATTCTTTCTGAGCTGC	0.562												
CDK5R2	8941	broad.mit.edu	37	2	219824814	219824814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219824814G>A	uc002vjf.2	+	1	417	c.272G>A	c.(271-273)GGC>GAC	p.G91D		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	91					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCCACGGGCCCCGACCCC	0.697												
CCDC108	255101	broad.mit.edu	37	2	219894331	219894331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:219894331G>A	uc002vjl.1	-	11	1528	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.R471C|CCDC108_uc010zkq.1_Missense_Mutation_p.R417C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	482						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCGGAGCGCTCCCCAAGG	0.577											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC23A3	151295	broad.mit.edu	37	2	220034124	220034124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220034124G>A	uc010zks.1	-	3	436	c.325C>T	c.(325-327)CCT>TCT	p.P109S	NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P109S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P109S|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	109	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACAAGAGGCAGCCTGTAG	0.602												
ATG9A	79065	broad.mit.edu	37	2	220088662	220088662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220088662C>T	uc002vke.1	-	9	1534	c.1348G>A	c.(1348-1350)GAC>AAC	p.D450N	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.D450N	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	450	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGGTCAGGCATGTAG	0.587												
DNAJB2	3300	broad.mit.edu	37	2	220149365	220149365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220149365G>A	uc002vkx.1	+	9	868	c.631G>A	c.(631-633)GAC>AAC	p.D211N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D211N|DNAJB2_uc002vky.2_Missense_Mutation_p.D27N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D27N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	211	UIM 1.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCAGATGACCTGGCACT	0.622												
SPEG	10290	broad.mit.edu	37	2	220312963	220312963	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220312963C>T	uc010fwg.2	+	4	1083	c.1083C>T	c.(1081-1083)TCC>TCT	p.S361S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	361					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAAGTCGTCCGGGCCCTCCC	0.716												
SPEG	10290	broad.mit.edu	37	2	220332065	220332065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220332065G>A	uc010fwg.2	+	10	3051	c.3051G>A	c.(3049-3051)ATG>ATA	p.M1017I		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1017	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGCAAGATGCATTTCGATG	0.587												
SPEG	10290	broad.mit.edu	37	2	220336948	220336948	+	Splice_Site	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220336948G>A	uc010fwg.2	+	15	3836	c.3836_splice	c.e15-1	p.D1279_splice		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus						muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGGCTTTCAGATGTGGTCCC	0.662												
SPEG	10290	broad.mit.edu	37	2	220344792	220344792	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220344792T>C	uc010fwg.2	+	25	5272	c.5272T>C	c.(5272-5274)TAT>CAT	p.Y1758H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1758	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTACTGCCAGTATGGCACACC	0.607												
SPEG	10290	broad.mit.edu	37	2	220353309	220353309	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220353309C>T	uc010fwg.2	+	33	7948	c.7948C>T	c.(7948-7950)CGG>TGG	p.R2650W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2650	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCGGGCAAGCGGCACGCCGG	0.652												
SPEG	10290	broad.mit.edu	37	2	220354353	220354353	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:220354353G>A	uc010fwg.2	+	36	8613	c.8613G>A	c.(8611-8613)GAG>GAA	p.E2871E		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2871	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCAAGTGAGCCCAAGCCTT	0.617												
ACSL3	2181	broad.mit.edu	37	2	223806301	223806301	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:223806301T>C	uc002vni.2	+	17	2543	c.2092T>C	c.(2092-2094)TTC>CTC	p.F698L	ACSL3_uc002vnj.2_Missense_Mutation_p.F698L|ACSL3_uc002vnk.2_5'Flank	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	698	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GACAGATGCCTTCAAGCTGAA	0.403			T	ETV1	prostate							
DOCK10	55619	broad.mit.edu	37	2	225659763	225659763	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:225659763T>C	uc010fwz.1	-	45	5226	c.4987A>G	c.(4987-4989)ACT>GCT	p.T1663A	DOCK10_uc002vob.2_Missense_Mutation_p.T1657A|DOCK10_uc002voa.2_Missense_Mutation_p.T319A|DOCK10_uc002voc.2_Missense_Mutation_p.T517A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1663	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATCAAAACAGTCCTTATACGC	0.488												
KIAA1486	57624	broad.mit.edu	37	2	226378131	226378131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:226378131G>A	uc002voe.2	+	3	441	c.266G>A	c.(265-267)GGC>GAC	p.G89D	KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	89										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AGTTACGTGGGCAAACATTTC	0.498												
KIAA1486	57624	broad.mit.edu	37	2	226447400	226447400	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:226447400A>G	uc002voe.2	+	4	1442	c.1267A>G	c.(1267-1269)ACC>GCC	p.T423A	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.T193A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	423	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GCTGTACCGAACCCAGTCTCC	0.662												
IRS1	3667	broad.mit.edu	37	2	227663319	227663319	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:227663319A>G	uc002voh.3	-	1	188	c.136T>C	c.(136-138)TAC>CAC	p.Y46H		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	46	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTCTCGTAGTACTCGAGGCGC	0.627												
TRIP12	9320	broad.mit.edu	37	2	230667172	230667172	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:230667172A>G	uc002vpw.1	-	20	2886	c.2777T>C	c.(2776-2778)GTA>GCA	p.V926A	TRIP12_uc002vpx.1_Missense_Mutation_p.V974A|TRIP12_uc002vpy.1_Missense_Mutation_p.V656A|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	926					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGATGCATTACACCTTTATA	0.398												
SP110	3431	broad.mit.edu	37	2	231042294	231042294	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231042294T>C	uc002vqh.3	-	14	1790	c.1550A>G	c.(1549-1551)AAT>AGT	p.N517S	SP110_uc002vqg.3_Missense_Mutation_p.N517S|SP110_uc002vqi.3_Missense_Mutation_p.N517S|SP110_uc010fxk.2_Missense_Mutation_p.N515S|SP110_uc010fxj.2_Missense_Mutation_p.N160S	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	517	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ACAACGTATATTCCGTTTCCA	0.433												
SP140	11262	broad.mit.edu	37	2	231112772	231112772	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231112772G>C	uc002vql.2	+	8	999	c.884G>C	c.(883-885)AGA>ACA	p.R295T	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.R295T|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Missense_Mutation_p.R269T|SP140_uc010fxl.2_Missense_Mutation_p.R295T	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	295					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		CCAGAGGGAAGAGACAAAGGT	0.512												
GPR55	9290	broad.mit.edu	37	2	231774792	231774792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231774792G>A	uc002vrg.2	-	2	1079	c.886C>T	c.(886-888)CGC>TGC	p.R296C	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.R296C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	296	Cytoplasmic (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGTTCATGCGGAATTCTTTG	0.532												
GPR55	9290	broad.mit.edu	37	2	231774894	231774894	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:231774894C>A	uc002vrg.2	-	2	977	c.784G>T	c.(784-786)GCC>TCC	p.A262S	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.A262S	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	262	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CTCTGCTTGGCTCTGCACTCT	0.502												
ECEL1	9427	broad.mit.edu	37	2	233347857	233347857	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:233347857C>T	uc002vsv.2	-	9	1744	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	ECEL1_uc010fya.1_Silent_p.P513P|ECEL1_uc010fyb.1_Silent_p.P220P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	513	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCAGGAAGTCCGGGTAGCCGA	0.657												
DNAJB3	414061	broad.mit.edu	37	2	234652351	234652351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:234652351G>A	uc002vuz.2	-	1	311	c.212C>T	c.(211-213)GCG>GTG	p.A71V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	71					protein folding		heat shock protein binding|unfolded protein binding				0						CTCCGCCCCCGCCTCGCCATA	0.627												
AGAP1	116987	broad.mit.edu	37	2	236877258	236877258	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:236877258A>G	uc002vvs.2	+	13	2231	c.1636A>G	c.(1636-1638)ACT>GCT	p.T546A	AGAP1_uc002vvt.2_Missense_Mutation_p.T493A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	546	PH.				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						CCTGTCCGGCACTGCTGAAGG	0.557												
GBX2	2637	broad.mit.edu	37	2	237076119	237076119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:237076119C>T	uc002vvw.1	-	1	534	c.496G>A	c.(496-498)GCG>ACG	p.A166T	GBX2_uc010zng.1_Missense_Mutation_p.A156T	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	166				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GTCTCGGCCGCGGAGAAGGCG	0.756												
COL6A3	1293	broad.mit.edu	37	2	238285437	238285437	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:238285437C>T	uc002vwl.2	-	7	3333	c.3048G>A	c.(3046-3048)GTG>GTA	p.V1016V	COL6A3_uc002vwo.2_Silent_p.V810V|COL6A3_uc010znj.1_Silent_p.V409V|COL6A3_uc002vwq.2_Silent_p.V810V|COL6A3_uc002vwr.2_Silent_p.V609V|COL6A3_uc010znk.1_Silent_p.V816V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1016	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCCGTTGTGCACTGATTTTA	0.498												
PER2	8864	broad.mit.edu	37	2	239162209	239162209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:239162209C>T	uc002vyc.2	-	19	2692	c.2455G>A	c.(2455-2457)GCC>ACC	p.A819T	PER2_uc010znv.1_Missense_Mutation_p.A819T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	819					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGGGGCCGGGCGGACACGGGC	0.617												
HDAC4	9759	broad.mit.edu	37	2	239976501	239976501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:239976501T>C	uc002vyk.3	-	25	3809	c.3017A>G	c.(3016-3018)CAG>CGG	p.Q1006R	HDAC4_uc010fyy.2_Missense_Mutation_p.Q963R	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1006	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGTCTTTGCTGTAAAACCTT	0.498												
OR6B2	389090	broad.mit.edu	37	2	240969231	240969231	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:240969231T>A	uc002vyr.2	-	2	662	c.616A>T	c.(616-618)ATC>TTC	p.I206F	OR6B2_uc010zoc.1_Missense_Mutation_p.I206F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AACACCAGGATGATGAAGGCC	0.577												
GPR35	2859	broad.mit.edu	37	2	241569510	241569510	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:241569510C>T	uc002vzs.1	+	1	716	c.141C>T	c.(139-141)TGC>TGT	p.C47C	GPR35_uc010fzh.1_Silent_p.C78C|GPR35_uc010fzi.1_Silent_p.C78C	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	47	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTTCTGCTGCCGCATGCAGC	0.652												
PASK	23178	broad.mit.edu	37	2	242046073	242046073	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242046073C>T	uc002wao.1	-	18	3972	c.3880G>A	c.(3880-3882)GCT>ACT	p.A1294T	PASK_uc010zol.1_Missense_Mutation_p.A1108T|PASK_uc010zom.1_Missense_Mutation_p.A1259T|PASK_uc010fzl.1_Missense_Mutation_p.A1301T|PASK_uc010zon.1_Missense_Mutation_p.A1075T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1294					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		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)		AGCTCCTGAGCCTGGGCCACA	0.572												
HDLBP	3069	broad.mit.edu	37	2	242186183	242186183	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242186183G>A	uc002waz.2	-	16	2162	c.1934C>T	c.(1933-1935)TCT>TTT	p.S645F	HDLBP_uc002wba.2_Missense_Mutation_p.S645F|HDLBP_uc002wbb.2_Missense_Mutation_p.S597F	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	645	KH 7.				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)		TTTCTGAATAGACAGAATCCT	0.473												
THAP4	51078	broad.mit.edu	37	2	242524084	242524084	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242524084C>A	uc002wbt.2	-	6	1894	c.1671G>T	c.(1669-1671)ATG>ATT	p.M557I	THAP4_uc002wbs.2_Missense_Mutation_p.M145I	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	557							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCGTGGTTGCCATGGAGACCG	0.507												
PDCD1	5133	broad.mit.edu	37	2	242794422	242794422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242794422C>T	uc002wcq.3	-	3	588	c.520G>A	c.(520-522)GTG>ATG	p.V174M	PDCD1_uc010fzs.2_Intron|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	174	Helical; (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219)		AGGCCGCCCACGACACCAACC	0.682												
TBC1D20	128637	broad.mit.edu	37	20	422520	422520	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:422520A>T	uc002wds.2	-	4	643	c.505T>A	c.(505-507)TTA>ATA	p.L169I	TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	169	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				TGGGTAGATAATTTTTCTACC	0.542												
TGM6	343641	broad.mit.edu	37	20	2398211	2398211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:2398211C>T	uc002wfy.1	+	10	1731	c.1670C>T	c.(1669-1671)CCG>CTG	p.P557L	TGM6_uc010gal.1_Missense_Mutation_p.P557L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	557					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGGCTGGGGCCGCAAGAAGGT	0.592												
SIGLEC1	6614	broad.mit.edu	37	20	3677372	3677372	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3677372A>G	uc002wja.2	-	10	2544	c.2544T>C	c.(2542-2544)GGT>GGC	p.G848G	SIGLEC1_uc002wiz.3_Silent_p.G848G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	848	Ig-like C2-type 8.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CCTGGAACCGACCATGGGATG	0.622												
C20orf27	54976	broad.mit.edu	37	20	3735139	3735139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3735139G>A	uc002wji.1	-	5	558	c.329C>T	c.(328-330)GCG>GTG	p.A110V	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.A135V	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	110											0						CTCTTTGTGCGCCGAGTACTC	0.642												
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Silent	SNP	G	G	A	rs150835407		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:3842924G>A	uc002wjw.3	+	5	658	c.489G>A	c.(487-489)ACG>ACA	p.T163T	MAVS_uc010zqn.1_Missense_Mutation_p.A106T|MAVS_uc002wjx.3_Silent_p.T22T|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	163	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CCCTGCAGACGCTCAGCCCCA	0.587												
SLC23A2	9962	broad.mit.edu	37	20	4913147	4913147	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:4913147C>T	uc002wlg.1	-	3	437	c.62G>A	c.(61-63)GGC>GAC	p.G21D	SLC23A2_uc010zqr.1_Missense_Mutation_p.G20D|SLC23A2_uc002wlh.1_Missense_Mutation_p.G21D|SLC23A2_uc002wli.2_Missense_Mutation_p.G20D|SLC23A2_uc002wlj.1_RNA	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	21					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						TTCGTATTTGCCTTCTGTTGA	0.428												
PROKR2	128674	broad.mit.edu	37	20	5294607	5294607	+	Missense_Mutation	SNP	C	C	T	rs139259742		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:5294607C>T	uc010zqw.1	-	1	409	c.409G>A	c.(409-411)GTC>ATC	p.V137I	PROKR2_uc010zqx.1_Missense_Mutation_p.V137I|PROKR2_uc010zqy.1_Missense_Mutation_p.V137I|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	137	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TAGAGGGAGACGGTGCGCAGG	0.607										HNSCC(71;0.22)		
GPCPD1	56261	broad.mit.edu	37	20	5554591	5554591	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:5554591A>G	uc002wme.3	-	11	1239	c.1026T>C	c.(1024-1026)ACT>ACC	p.T342T	GPCPD1_uc002wmd.3_Silent_p.T161T	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	342	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						AAGAAGCAATAGTATTTTCTT	0.338												
LRRN4	164312	broad.mit.edu	37	20	6022631	6022631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:6022631C>T	uc002wmo.2	-	5	1484	c.1260G>A	c.(1258-1260)TGG>TGA	p.W420*		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	420	Extracellular (Potential).					integral to membrane				skin(3)	3						CGCTGTGCGGCCATGCAGCTA	0.682												
PLCB4	5332	broad.mit.edu	37	20	9454009	9454009	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:9454009G>A	uc002wnf.2	+	36	3592	c.3456G>A	c.(3454-3456)GAG>GAA	p.E1152E	PLCB4_uc010gbx.2_Silent_p.E1164E|PLCB4_uc002wne.2_Silent_p.E1152E|PLCB4_uc002wnh.2_Silent_p.E999E	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1152					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						AACAGAATGAGCAGGTATTTT	0.403												
ESF1	51575	broad.mit.edu	37	20	13740434	13740434	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13740434T>A	uc002woj.2	-	9	1841	c.1733A>T	c.(1732-1734)CAA>CTA	p.Q578L	ESF1_uc002wok.1_Missense_Mutation_p.Q578L	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	578	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTTAGCAATTTGTTCTTCATC	0.328												
ESF1	51575	broad.mit.edu	37	20	13763447	13763447	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13763447T>C	uc002woj.2	-	2	448	c.340A>G	c.(340-342)AAG>GAG	p.K114E	ESF1_uc002wok.1_Missense_Mutation_p.K114E|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	114	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						GTTTCTTTCTTTTTCTCAACT	0.279												
SEL1L2	80343	broad.mit.edu	37	20	13868465	13868465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13868465A>G	uc010gcf.2	-	8	777	c.695T>C	c.(694-696)CTA>CCA	p.L232P	SEL1L2_uc002woq.3_Missense_Mutation_p.L93P|SEL1L2_uc010zrl.1_Missense_Mutation_p.L232P|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	232	Sel1-like 4.|Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						ACAATTCTGTAGAACATTGAT	0.318												
SEL1L2	80343	broad.mit.edu	37	20	13912277	13912277	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13912277T>C	uc010gcf.2	-	3	337	c.255A>G	c.(253-255)AAA>AAG	p.K85K	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.K85K|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	85	Extracellular (Potential).					integral to membrane	binding			ovary(2)	2						TCAAGATATCTTTATTTTGAA	0.249												
KIF16B	55614	broad.mit.edu	37	20	16488730	16488730	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:16488730A>G	uc002wpg.1	-	7	730	c.572T>C	c.(571-573)TTA>TCA	p.L191S	KIF16B_uc010gch.1_Missense_Mutation_p.L191S|KIF16B_uc010gci.1_Missense_Mutation_p.L191S|KIF16B_uc010gcj.1_Missense_Mutation_p.L191S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	191	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ATTCTGTACTAAATGTTTGGA	0.403												
SNRPB2	6629	broad.mit.edu	37	20	16721539	16721539	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:16721539T>C	uc002wph.1	+	7	783	c.567T>C	c.(565-567)ATT>ATC	p.I189I	SNRPB2_uc002wpi.1_Silent_p.I189I	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	189	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						GGCATGACATTGCTTTTGTTG	0.428												
CRNKL1	51340	broad.mit.edu	37	20	20018070	20018070	+	Missense_Mutation	SNP	C	C	T	rs141413150		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:20018070C>T	uc002wrs.2	-	14	2308	c.2276G>A	c.(2275-2277)CGA>CAA	p.R759Q		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	759	HAT 15.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TTCAAAACTTCGCCAAGATTC	0.393												
C20orf26	26074	broad.mit.edu	37	20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:20180469C>T	uc002wru.2	+	17	1931	c.1855C>T	c.(1855-1857)CGA>TGA	p.R619*	C20orf26_uc010zse.1_Nonsense_Mutation_p.R599*	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	619										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532												
XRN2	22803	broad.mit.edu	37	20	21307158	21307158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:21307158G>A	uc002wsf.1	+	3	329	c.234G>A	c.(232-234)ATG>ATA	p.M78I	XRN2_uc002wsg.1_Missense_Mutation_p.M2I|XRN2_uc010zsk.1_Missense_Mutation_p.M24I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	78					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						ATGAAATGATGGTTGCAATTT	0.318												
PAX1	5075	broad.mit.edu	37	20	21687619	21687619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:21687619C>T	uc002wsj.2	+	2	884	c.830C>T	c.(829-831)GCG>GTG	p.A277V	PAX1_uc010zsl.1_Missense_Mutation_p.A277V|PAX1_uc010zsm.1_Missense_Mutation_p.A253V	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	277					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CCGGGCACGGCGGGCCACGTC	0.667												
SSTR4	6754	broad.mit.edu	37	20	23016853	23016853	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23016853G>A	uc002wsr.2	+	1	797	c.733G>A	c.(733-735)GCT>ACT	p.A245T		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	245	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCTGCGCGCTGGCTGGCA	0.627												
CST11	140880	broad.mit.edu	37	20	23433295	23433295	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23433295T>C	uc002wtf.1	-	1	188	c.154A>G	c.(154-156)ACC>GCC	p.T52A	CST11_uc002wtg.1_Missense_Mutation_p.T52A	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	52					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TACTGGTCGGTGATCCACTGC	0.493												
CST8	10047	broad.mit.edu	37	20	23473656	23473656	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23473656C>A	uc002wth.1	+	3	650	c.293C>A	c.(292-294)CCT>CAT	p.P98H		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	98						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCAGAAAGCCTTTAAGCACT	0.423												
CST9L	128821	broad.mit.edu	37	20	23548916	23548916	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:23548916A>G	uc002wtk.3	-	1	471	c.172T>C	c.(172-174)TTC>CTC	p.F58L		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	58						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTTGGTTGAATGTGTGGACA	0.527												
ZNF337	26152	broad.mit.edu	37	20	25657018	25657018	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:25657018G>A	uc002wva.2	-	4	1428	c.906C>T	c.(904-906)AAC>AAT	p.N302N	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.N270N|ZNF337_uc002wvb.2_Silent_p.N302N|ZNF337_uc002wvc.2_Silent_p.N302N	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGACTTATCGTTAAACCTTC	0.483												
MYLK2	85366	broad.mit.edu	37	20	30421541	30421541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30421541G>A	uc002wwq.2	+	13	1834	c.1732G>A	c.(1732-1734)GCT>ACT	p.A578T	MYLK2_uc002wws.2_Missense_Mutation_p.A195T|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	578	Calmodulin-binding (By similarity).				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGTCAGCGCTGCCAACCG	0.612											OREG0025857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DUSP15	128853	broad.mit.edu	37	20	30436221	30436221	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30436221A>G	uc002wwu.1	-	10	951	c.874T>C	c.(874-876)TCT>CCT	p.S292P	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	292						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGTACAAGAAGAGGAAGCG	0.632												
HCK	3055	broad.mit.edu	37	20	30681809	30681809	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:30681809G>T	uc002wxh.2	+	11	1407	c.1236G>T	c.(1234-1236)ACG>ACT	p.T412T	HCK_uc010gdy.2_Silent_p.T391T|HCK_uc002wxi.2_Silent_p.T390T	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	412	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGAGTACACGGCTCGGGAAG	0.542												
ASXL1	171023	broad.mit.edu	37	20	31021711	31021711	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31021711G>A	uc002wxs.2	+	11	2136	c.1710G>A	c.(1708-1710)CCG>CCA	p.P570P	ASXL1_uc010geb.2_Silent_p.P461P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	570					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CCAAAGTCCCGCCCATCCGGG	0.517			F|N|Mis		MDS|CMML							
ASXL1	171023	broad.mit.edu	37	20	31024634	31024634	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31024634T>C	uc002wxs.2	+	12	4545	c.4119T>C	c.(4117-4119)TTT>TTC	p.F1373F	ASXL1_uc010geb.2_Silent_p.F1264F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1373					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						AGAAGACTTTTGTGGGGGGTC	0.532			F|N|Mis		MDS|CMML							
SUN5	140732	broad.mit.edu	37	20	31573693	31573693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31573693C>T	uc002wyi.2	-	11	839	c.746G>A	c.(745-747)GGC>GAC	p.G249D		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	249	SUN.				spermatogenesis					skin(1)	1						CCAGCAATTGCCAGGTGTCAC	0.552												
BPIL3	128859	broad.mit.edu	37	20	31624279	31624279	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:31624279C>T	uc010zuc.1	+	7	606	c.606C>T	c.(604-606)ACC>ACT	p.T202T	BPIL3_uc010zud.1_Silent_p.T141T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	bactericidal/permeability-increasing	202						extracellular region	lipid binding			ovary(1)|pancreas(1)	2						AGATGGGCACCGTCAAATATG	0.587												
MYH7B	57644	broad.mit.edu	37	20	33577634	33577634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33577634C>T	uc002xbi.1	+	18	1897	c.1805C>T	c.(1804-1806)GCG>GTG	p.A602V	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	560	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACAACCACGCGGGGAAGTCA	0.612												
EDEM2	55741	broad.mit.edu	37	20	33722673	33722673	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33722673G>A	uc002xbo.2	-	6	670	c.570C>T	c.(568-570)ACC>ACT	p.T190T	EDEM2_uc010zuv.1_Silent_p.T149T|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Silent_p.T153T|EDEM2_uc010zut.1_Silent_p.T149T|EDEM2_uc002xbp.2_Silent_p.T38T|EDEM2_uc002xbn.2_Silent_p.T38T|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	190					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGCCGTACAGGTGACAGGGG	0.527												
CEP250	11190	broad.mit.edu	37	20	34060621	34060621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34060621C>T	uc002xcm.2	+	13	1845	c.1174C>T	c.(1174-1176)CGT>TGT	p.R392C	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	392					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)			TACTCTGGTGCGTTCAGTGCT	0.512												
PHF20	51230	broad.mit.edu	37	20	34519240	34519240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34519240C>T	uc002xek.1	+	15	2285	c.2174C>T	c.(2173-2175)GCA>GTA	p.A725V		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					CATGGCCTGGCATTTCTAGAA	0.507												
C20orf4	25980	broad.mit.edu	37	20	34827850	34827850	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34827850T>C	uc002xfc.1	+	2	153	c.60T>C	c.(58-60)ACT>ACC	p.T20T	C20orf4_uc002xfd.1_Silent_p.T20T|C20orf4_uc002xfe.1_Silent_p.T20T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	20											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AAGGGGCCACTGTGGTCATCC	0.557												
C20orf4	25980	broad.mit.edu	37	20	34828400	34828400	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:34828400A>T	uc002xfc.1	+	2	703	c.610A>T	c.(610-612)ACA>TCA	p.T204S	C20orf4_uc002xfd.1_Missense_Mutation_p.T204S|C20orf4_uc002xfe.1_Missense_Mutation_p.T204S	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	204											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				CAGAGCCGGGACAGAGATCCG	0.607												
DLGAP4	22839	broad.mit.edu	37	20	35128652	35128652	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35128652A>G	uc002xff.2	+	10	2576	c.2141A>G	c.(2140-2142)GAT>GGT	p.D714G	DLGAP4_uc010zvp.1_Missense_Mutation_p.D714G|DLGAP4_uc002xfg.2_Missense_Mutation_p.D10G|DLGAP4_uc002xfh.2_Missense_Mutation_p.D178G|DLGAP4_uc002xfi.2_Missense_Mutation_p.D23G|DLGAP4_uc002xfj.2_Missense_Mutation_p.D10G	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	717					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACAGACTCGGATACCCAGGAT	0.602												
SLA2	84174	broad.mit.edu	37	20	35242709	35242709	+	Missense_Mutation	SNP	T	T	C	rs147433804		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35242709T>C	uc002xfv.2	-	7	1026	c.664A>G	c.(664-666)AGC>GGC	p.S222G	SLA2_uc002xfu.2_Missense_Mutation_p.Q205R	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2 isoform a	222	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CAACTTTACCTGTCCAGCTCT	0.572												
SAMHD1	25939	broad.mit.edu	37	20	35533903	35533903	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35533903T>A	uc002xgh.1	-	12	1404	c.1274A>T	c.(1273-1275)AAC>ATC	p.N425I	SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	425					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				CAGAAAAATGTTATCTGCCAA	0.289												
C20orf132	140699	broad.mit.edu	37	20	35766264	35766264	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:35766264T>C	uc010zvu.1	-	15	1719	c.1628A>G	c.(1627-1629)TAC>TGC	p.Y543C	C20orf132_uc002xgk.2_Missense_Mutation_p.Y165C|C20orf132_uc002xgm.2_Missense_Mutation_p.Y543C|C20orf132_uc002xgn.2_Missense_Mutation_p.Y508C	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	418											0		Myeloproliferative disorder(115;0.00878)				TATATCTGTGTACTTGGGTCT	0.408												
TGM2	7052	broad.mit.edu	37	20	36766734	36766734	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:36766734C>T	uc002xhr.2	-	10	1496	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T	TGM2_uc010zvx.1_Missense_Mutation_p.A385T|TGM2_uc010zvy.1_Missense_Mutation_p.A406T|TGM2_uc002xhs.1_Missense_Mutation_p.A442T|TGM2_uc002xht.2_Missense_Mutation_p.A466T	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	466					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TCCTTCTCGGCCAGTTTGTTC	0.557												
KIAA1755	85449	broad.mit.edu	37	20	36874452	36874452	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:36874452G>A	uc002xhy.1	-	2	352	c.80C>T	c.(79-81)ACC>ATC	p.T27I	KIAA1755_uc002xhz.1_Missense_Mutation_p.T27I	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	27										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				ACCCAGGACGGTGGGTGCTGT	0.637												
SLC32A1	140679	broad.mit.edu	37	20	37357012	37357012	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:37357012C>T	uc002xjc.2	+	2	1571	c.1308C>T	c.(1306-1308)CGC>CGT	p.R436R		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	436	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGACGCTGCGCTGCGCGCTCG	0.672												
ACTR5	79913	broad.mit.edu	37	20	37400389	37400389	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:37400389G>A	uc002xjd.2	+	9	1779	c.1754G>A	c.(1753-1755)CGC>CAC	p.R585H		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	585					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				CAGGCCTCCCGCTCCTCAGAT	0.597												
PLCG1	5335	broad.mit.edu	37	20	39788775	39788775	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39788775A>T	uc002xjp.1	+	4	615	c.494A>T	c.(493-495)GAT>GTT	p.D165V	PLCG1_uc002xjo.1_Missense_Mutation_p.D165V	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	165	EF-hand.|Potential.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				TACTCAGTGGATCGGAATCGT	0.582												
PLCG1	5335	broad.mit.edu	37	20	39792749	39792749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39792749G>A	uc002xjp.1	+	12	1246	c.1125G>A	c.(1123-1125)ATG>ATA	p.M375I	PLCG1_uc002xjo.1_Missense_Mutation_p.M375I|PLCG1_uc010zwe.1_Missense_Mutation_p.M1I|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	375	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CGGATGGGATGCCAGTTATTT	0.597												
ZHX3	23051	broad.mit.edu	37	20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587												
EMILIN3	90187	broad.mit.edu	37	20	39990930	39990930	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:39990930T>C	uc002xjy.1	-	4	1503	c.1279A>G	c.(1279-1281)ATG>GTG	p.M427V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	427						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				CCCTCGAGCATGGCAGCAGAG	0.657												
MYBL2	4605	broad.mit.edu	37	20	42310462	42310462	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42310462G>A	uc002xlb.1	+	3	368	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q	MYBL2_uc010zwj.1_Intron|MYBL2_uc002xla.1_Silent_p.Q51Q	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	51	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTTTGGACAGCAGGACTGGA	0.617												
MYBL2	4605	broad.mit.edu	37	20	42331178	42331178	+	Missense_Mutation	SNP	C	C	T	rs111283547		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42331178C>T	uc002xlb.1	+	8	1215	c.1000C>T	c.(1000-1002)CCA>TCA	p.P334S	MYBL2_uc010zwj.1_Missense_Mutation_p.P310S|MYBL2_uc002xla.1_Missense_Mutation_p.P334S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	334						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGAGGAACCATCTGCAGA	0.537												
JPH2	57158	broad.mit.edu	37	20	42744601	42744601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:42744601G>A	uc002xli.1	-	4	2587	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	572	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGTGGTGCGCACAGCATAG	0.736												
PABPC1L	80336	broad.mit.edu	37	20	43545398	43545398	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43545398T>C	uc010ggv.1	+	3	471	c.389T>C	c.(388-390)GTG>GCG	p.V130A	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	130	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						GTGGCCCAGGTGGCGTGTGAC	0.567												
SLPI	6590	broad.mit.edu	37	20	43882339	43882339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43882339C>T	uc002xnm.1	-	2	143	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_003064	NP_003055	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	41	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGGCACTGGGCAGATTTCTTA	0.507												
DNTTIP1	116092	broad.mit.edu	37	20	44433785	44433785	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44433785T>C	uc002xpk.2	+	9	672	c.604T>C	c.(604-606)TGG>CGG	p.W202R		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	202						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				TTTTGCACAGTGGGACCCAGC	0.478												
SNX21	90203	broad.mit.edu	37	20	44469671	44469671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44469671C>T	uc002xpv.1	+	4	930	c.841C>T	c.(841-843)CGC>TGC	p.R281C	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R92C|SNX21_uc002xpx.2_Missense_Mutation_p.R271C|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R92C|SNX21_uc002xpz.1_Missense_Mutation_p.R92C	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	281					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGGCCCAGACCGCCCCCTGCT	0.677												
ZSWIM3	140831	broad.mit.edu	37	20	44506110	44506110	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44506110C>T	uc002xqd.2	+	2	1116	c.913C>T	c.(913-915)CTT>TTT	p.L305F	ZSWIM3_uc010zxg.1_Missense_Mutation_p.L299F	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	305							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CCGCATCCTCCTTTCCATCTA	0.522												
ZNF335	63925	broad.mit.edu	37	20	44581059	44581059	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44581059A>G	uc002xqw.2	-	20	3039	c.2916T>C	c.(2914-2916)CCT>CCC	p.P972P	ZNF335_uc002xqv.2_Silent_p.P84P|ZNF335_uc010zxk.1_Silent_p.P817P	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ATGGGGGCTCAGGGCCGTCTC	0.652												
ZNF335	63925	broad.mit.edu	37	20	44596988	44596988	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44596988C>T	uc002xqw.2	-	4	579	c.456G>A	c.(454-456)GTG>GTA	p.V152V	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Silent_p.V120V|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V152L(1)		skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CAGCACTGGTCACAGTGATGC	0.642												
CDH22	64405	broad.mit.edu	37	20	44869722	44869722	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44869722T>C	uc002xrm.2	-	2	831	c.430A>G	c.(430-432)ACC>GCC	p.T144A	CDH22_uc010ghk.1_Missense_Mutation_p.T144A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	144	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGGCGGTTGGTGGCGCGATCC	0.617												
ZNF334	55713	broad.mit.edu	37	20	45130649	45130649	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:45130649A>G	uc002xsc.2	-	5	1513	c.1329T>C	c.(1327-1329)TGT>TGC	p.C443C	ZNF334_uc002xsa.2_Silent_p.C466C|ZNF334_uc002xsb.2_Silent_p.C405C|ZNF334_uc002xsd.2_Silent_p.C405C|ZNF334_uc010ghl.2_Silent_p.C442C	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	443	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CTGATTTCGTACATAAAAATT	0.383												
SLC2A10	81031	broad.mit.edu	37	20	45354435	45354435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:45354435G>A	uc002xsl.2	+	2	857	c.760G>A	c.(760-762)GCC>ACC	p.A254T		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	254	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGTGCTATGCCTCCACCAT	0.632												
NCOA3	8202	broad.mit.edu	37	20	46282157	46282157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:46282157G>A	uc002xtk.2	+	23	4476	c.4271G>A	c.(4270-4272)TGC>TAC	p.C1424Y	NCOA3_uc002xtl.2_Missense_Mutation_p.C1420Y|NCOA3_uc002xtm.2_Missense_Mutation_p.C1419Y|NCOA3_uc002xtn.2_Missense_Mutation_p.C1423Y|NCOA3_uc010zyc.1_Missense_Mutation_p.C1219Y	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1424					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						CAGAAATACTGCTGACATCTC	0.388												
PREX1	57580	broad.mit.edu	37	20	47307598	47307598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:47307598C>T	uc002xtw.1	-	9	1096	c.1073G>A	c.(1072-1074)GGC>GAC	p.G358D		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	358	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GATCTTCCAGCCGTTGGTGAC	0.577												
ZNFX1	57169	broad.mit.edu	37	20	47864756	47864756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:47864756C>T	uc002xui.2	-	14	5052	c.4805G>A	c.(4804-4806)CGC>CAC	p.R1602H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1602							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATTCATGTAGCGGTCTAGGGC	0.507												
B4GALT5	9334	broad.mit.edu	37	20	48257180	48257180	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:48257180C>T	uc002xuu.3	-	6	823	c.629G>A	c.(628-630)CGA>CAA	p.R210Q		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	210	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)			AAGCATGGCTCGATTAAAGGG	0.393												
SALL4	57167	broad.mit.edu	37	20	50400912	50400912	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:50400912G>A	uc002xwh.3	-	4	3155	c.3054C>T	c.(3052-3054)GGC>GGT	p.G1018G	SALL4_uc010gii.2_Silent_p.G581G|SALL4_uc002xwi.3_Silent_p.G241G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	1018					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCGACTGGGAGCCATCCATCT	0.537												
SALL4	57167	broad.mit.edu	37	20	50406825	50406825	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:50406825G>T	uc002xwh.3	-	2	2298	c.2197C>A	c.(2197-2199)CCA>ACA	p.P733T	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	733					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ACTTTCCCTGGGGCATCTAAG	0.607												
ZNF217	7764	broad.mit.edu	37	20	52199045	52199045	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:52199045C>T	uc002xwq.3	-	1	592	c.321G>A	c.(319-321)CCG>CCA	p.P107P	ZNF217_uc010gij.1_Silent_p.P99P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	107					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTTATCAAGCGGACTGAGAT	0.438												
BCAS1	8537	broad.mit.edu	37	20	52645321	52645321	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:52645321G>A	uc002xws.2	-	4	671	c.333C>T	c.(331-333)GCC>GCT	p.A111A	BCAS1_uc010zzb.1_Silent_p.A14A|BCAS1_uc010gim.2_Silent_p.A14A|BCAS1_uc002xwt.2_Silent_p.A111A|BCAS1_uc010gil.1_Silent_p.A111A|BCAS1_uc010zzc.1_Silent_p.A14A	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	111						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATGAATCTGCGGCTTGGTCTC	0.527												
C20orf85	128602	broad.mit.edu	37	20	56735847	56735847	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:56735847A>C	uc002xyv.2	+	4	421	c.383A>C	c.(382-384)GAG>GCG	p.E128A		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	128										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TTTGCACGAGAGCTGTGCTGG	0.602												
ZNF831	128611	broad.mit.edu	37	20	57766421	57766421	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:57766421A>G	uc002yan.2	+	1	347	c.347A>G	c.(346-348)AAC>AGC	p.N116S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	116						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTGACGGTGAACATCGTGGGC	0.687												
SYCP2	10388	broad.mit.edu	37	20	58456998	58456998	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:58456998A>G	uc002yaz.2	-	27	2797	c.2658_splice	c.e27+1	p.G886_splice		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTAGCTTACTCCAAGTTT	0.308												
SYCP2	10388	broad.mit.edu	37	20	58482429	58482429	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:58482429G>A	uc002yaz.2	-	14	1162	c.1023C>T	c.(1021-1023)TAC>TAT	p.Y341Y	SYCP2_uc010gju.1_Silent_p.Y242Y	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	341					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTCAATGCTGTATATTTGTA	0.294												
ADRM1	11047	broad.mit.edu	37	20	60883759	60883759	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60883759A>G	uc002ycn.2	+	10	1246	c.1166A>G	c.(1165-1167)CAG>CGG	p.Q389R	ADRM1_uc002yco.2_Missense_Mutation_p.Q389R	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	389	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AAGCCCGAGCAGAAAGAGGGC	0.572												
LAMA5	3911	broad.mit.edu	37	20	60889901	60889901	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60889901C>T	uc002ycq.2	-	60	8217	c.8150G>A	c.(8149-8151)GGC>GAC	p.G2717D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2717	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGCACGCGGCCAATGCTGGC	0.672												
LAMA5	3911	broad.mit.edu	37	20	60903407	60903407	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60903407G>T	uc002ycq.2	-	35	4609	c.4542C>A	c.(4540-4542)CCC>CCA	p.P1514P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1514	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAGGTCTGGGGCTGGCACA	0.672												
DIDO1	11083	broad.mit.edu	37	20	61525797	61525797	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61525797T>C	uc002ydr.1	-	11	2804	c.2540A>G	c.(2539-2541)CAC>CGC	p.H847R	DIDO1_uc002yds.1_Missense_Mutation_p.H847R|DIDO1_uc002ydt.1_Missense_Mutation_p.H847R|DIDO1_uc002ydu.1_Missense_Mutation_p.H847R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	847					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ATCGAAGAGGTGTGCGCGGTG	0.507												
DIDO1	11083	broad.mit.edu	37	20	61542719	61542719	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61542719C>T	uc002ydr.1	-	3	510	c.246G>A	c.(244-246)CGG>CGA	p.R82R	DIDO1_uc002yds.1_Silent_p.R82R|DIDO1_uc002ydt.1_Silent_p.R82R|DIDO1_uc002ydu.1_Silent_p.R82R|DIDO1_uc002ydv.1_Silent_p.R82R|DIDO1_uc002ydw.1_Silent_p.R82R|DIDO1_uc002ydx.1_Silent_p.R82R|DIDO1_uc011aao.1_Silent_p.R82R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	82					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TGCCGCGGCGCCGCGCAATGG	0.711												
YTHDF1	54915	broad.mit.edu	37	20	61835087	61835087	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61835087A>G	uc002yeh.2	-	4	499	c.205T>C	c.(205-207)TCC>CCC	p.S69P	YTHDF1_uc011aaq.1_Missense_Mutation_p.S19P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	69										ovary(2)	2						TCATTGAGGGAGTAAGGAAAT	0.517												
ARFRP1	10139	broad.mit.edu	37	20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:62331872G>A	uc002yga.2	-	7	1096	c.529C>T	c.(529-531)CGC>TGC	p.R177C	ARFRP1_uc002ygc.2_Missense_Mutation_p.R177C|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.R177C|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	177					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|skin(1)	2	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697												
TPTE	7179	broad.mit.edu	37	21	10942922	10942922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:10942922C>T	uc002yip.1	-	12	1033	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R204Q|TPTE_uc002yir.1_Missense_Mutation_p.R184Q|TPTE_uc010gkv.1_Missense_Mutation_p.R84Q	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	222					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCACTTACCCGCCTTCTTAT	0.318												
TPTE	7179	broad.mit.edu	37	21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	rs147014138	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:10942995G>A	uc002yip.1	-	12	960	c.592C>T	c.(592-594)CGA>TGA	p.R198*	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.299												
TMPRSS15	5651	broad.mit.edu	37	21	19775802	19775802	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:19775802G>A	uc002ykw.2	-	1	169	c.138C>T	c.(136-138)TCC>TCT	p.S46S		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	46	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TACCTCGTTGGGATTCCTTGA	0.433												
MRPL39	54148	broad.mit.edu	37	21	26965134	26965134	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:26965134A>G	uc002ylo.2	-	8	925	c.911T>C	c.(910-912)GTT>GCT	p.V304A	MRPL39_uc002yln.2_Missense_Mutation_p.V304A	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	304						mitochondrial ribosome	nucleotide binding				0						TCTTAAGTGAACAGGTAAAGA	0.368												
ADAMTS5	11096	broad.mit.edu	37	21	28306946	28306946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:28306946C>T	uc002ymg.2	-	4	2257	c.1528G>A	c.(1528-1530)GGC>AGC	p.G510S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	510	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACATCCATGCCGGGACACACG	0.612												
USP16	10600	broad.mit.edu	37	21	30414846	30414846	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30414846T>C	uc002ymy.2	+	12	1378	c.1176T>C	c.(1174-1176)GAT>GAC	p.D392D	USP16_uc002ymx.2_Silent_p.D391D|USP16_uc002ymw.2_Silent_p.D392D|USP16_uc011acm.1_Silent_p.D377D|USP16_uc011acn.1_Silent_p.D58D|USP16_uc011aco.1_Silent_p.D82D	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	392					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						TTTTAGATGATCAGGTAAGAC	0.318												
CCT8	10694	broad.mit.edu	37	21	30432959	30432959	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30432959T>C	uc002ynb.2	-	14	1571	c.1472A>G	c.(1471-1473)GAC>GGC	p.D491G	CCT8_uc002ymz.2_Missense_Mutation_p.D107G|CCT8_uc011acp.1_Missense_Mutation_p.D472G|CCT8_uc002yna.2_Missense_Mutation_p.D440G|CCT8_uc002ync.2_Missense_Mutation_p.D490G|CCT8_uc010glm.2_Missense_Mutation_p.D432G|CCT8_uc011acq.1_Missense_Mutation_p.D418G	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	491					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TTCCAGCATGTCCTTTACAGC	0.398												
CCT8	10694	broad.mit.edu	37	21	30439211	30439211	+	Splice_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30439211C>T	uc002ynb.2	-	5	661	c.562_splice	c.e5+1	p.V188_splice	CCT8_uc011acp.1_Splice_Site_p.V169_splice|CCT8_uc002yna.2_Splice_Site_p.V137_splice|CCT8_uc002ync.2_Splice_Site_p.V187_splice|CCT8_uc010glm.2_Intron|CCT8_uc011acq.1_Splice_Site_p.V115_splice	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TATTTACTTACCGCATGCCTG	0.333												
BACH1	571	broad.mit.edu	37	21	30693751	30693751	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:30693751C>T	uc002ynj.2	+	2	265	c.150C>T	c.(148-150)TCC>TCT	p.S50S	BACH1_uc002ynk.2_Silent_p.S50S|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	50	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						CTCACCGGTCCGTGCTGGCGG	0.527												
KRTAP19-7	337974	broad.mit.edu	37	21	31933570	31933570	+	Silent	SNP	G	G	A	rs142979058	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:31933570G>A	uc011adb.1	-	1	39	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	13						intermediate filament					0						CTCCACAGCCGTAGCCTAGGC	0.537												
TIAM1	7074	broad.mit.edu	37	21	32638371	32638371	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:32638371A>G	uc002yow.1	-	5	1390	c.918T>C	c.(916-918)ATT>ATC	p.I306I	TIAM1_uc011adk.1_Silent_p.I306I|TIAM1_uc011adl.1_Silent_p.I306I|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	306					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCTATGGCTAATTTGTGGGT	0.428												
C21orf59	56683	broad.mit.edu	37	21	33954534	33954534	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:33954534G>A	uc002ypy.1	-	7	1067	c.954C>T	c.(952-954)CAC>CAT	p.H318H	TCP10L_uc002ypw.3_Silent_p.H112H|C21orf59_uc002ypx.1_Silent_p.H135H|C21orf59_uc002ypz.1_Silent_p.H286H	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	Error:Variant_position_missing_in_P57076_after_alignment						cytosol|nucleus					0						CTTGCCCCGCGTGTGGGGACG	0.498												
OLIG2	10215	broad.mit.edu	37	21	34399391	34399391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34399391G>A	uc002yqx.1	+	2	379	c.221G>A	c.(220-222)GGC>GAC	p.G74D		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	74						cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GGAGGCAGTGGCTTCAAGTCA	0.657			T	TRA@	T-ALL							
IFNAR2	3455	broad.mit.edu	37	21	34635727	34635727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34635727G>A	uc002yrd.2	+	9	1798	c.1470G>A	c.(1468-1470)TGG>TGA	p.W490*	IFNAR2_uc002yre.2_Nonsense_Mutation_p.W490*|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron|IL10RB_uc002yrk.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	490	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGGGCCTGTGGTCCGAAGATG	0.483												
IFNAR1	3454	broad.mit.edu	37	21	34725143	34725143	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34725143C>T	uc002yrn.2	+	9	1370	c.1223C>T	c.(1222-1224)GCA>GTA	p.A408V	IFNAR1_uc011adv.1_Missense_Mutation_p.A339V	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	408	Fibronectin type-III 3.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAGCCAGAGCACACACCATG	0.313												
SON	6651	broad.mit.edu	37	21	34924576	34924576	+	Silent	SNP	C	C	T	rs150871748		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:34924576C>T	uc002yse.1	+	3	3088	c.3039C>T	c.(3037-3039)TAC>TAT	p.Y1013Y	SON_uc002ysb.1_Silent_p.Y1013Y|SON_uc002ysc.2_Silent_p.Y1013Y|SON_uc002ysd.2_Silent_p.Y4Y|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.Y4Y	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1013	14 X 6 AA repeats of [ED]-R-S-M-M-S.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGTCATCTTACGAACGCTCTA	0.488												
ITSN1	6453	broad.mit.edu	37	21	35169909	35169909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:35169909G>A	uc002yta.1	+	18	2447	c.2179G>A	c.(2179-2181)GCA>ACA	p.A727T	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.A727T|ITSN1_uc010gmg.2_Missense_Mutation_p.A690T|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.A727T|ITSN1_uc010gmi.2_Missense_Mutation_p.A690T|ITSN1_uc010gmj.2_Missense_Mutation_p.A611T|ITSN1_uc002ysy.2_Missense_Mutation_p.A727T|ITSN1_uc002ysx.2_Missense_Mutation_p.A690T|ITSN1_uc002ytb.1_Missense_Mutation_p.A727T|ITSN1_uc002ytc.1_Missense_Mutation_p.A727T|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.A690T|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.A727T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.A661T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	727					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						CTGGTCCACTGCAGGTATTAG	0.473												
CBR3	874	broad.mit.edu	37	21	37507764	37507764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37507764G>A	uc002yve.2	+	1	502	c.274G>A	c.(274-276)GCC>ACC	p.A92T	uc002yvc.1_Intron|uc002yvd.1_Intron	NM_001236	NP_001227	O75828	CBR3_HUMAN	carbonyl reductase 3	92						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding				0						CAACAACGCGGCCGTCGCCTT	0.667												
MORC3	23515	broad.mit.edu	37	21	37710133	37710133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37710133G>A	uc002yvi.2	+	4	425	c.349G>A	c.(349-351)GTT>ATT	p.V117I		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	117					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AGACGCAATCGTTTTTACCAA	0.448												
CHAF1B	8208	broad.mit.edu	37	21	37759988	37759988	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37759988T>C	uc002yvj.2	+	3	357	c.219T>C	c.(217-219)CGT>CGC	p.R73R		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	73	WD 2.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						ATGTTGTGCGTTTTTCTCCAA	0.448												
TTC3	7267	broad.mit.edu	37	21	38529006	38529006	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:38529006A>C	uc002yvz.2	+	28	2895	c.2790A>C	c.(2788-2790)AAA>AAC	p.K930N	TTC3_uc011aee.1_Missense_Mutation_p.K620N|TTC3_uc002ywa.2_Missense_Mutation_p.K930N|TTC3_uc002ywb.2_Missense_Mutation_p.K930N|TTC3_uc010gnf.2_Missense_Mutation_p.K695N|TTC3_uc002ywc.2_Missense_Mutation_p.K620N|TTC3_uc002ywd.1_5'UTR	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	930					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CATCTCTTAAACTGCTTGATT	0.363												
DYRK1A	1859	broad.mit.edu	37	21	38845110	38845110	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:38845110G>A	uc002ywk.2	+	2	210	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_Silent_p.Q16Q|DYRK1A_uc002ywi.2_Silent_p.Q45Q|DYRK1A_uc002ywj.2_Silent_p.Q45Q|DYRK1A_uc002ywl.2_Silent_p.Q45Q|DYRK1A_uc002ywm.2_Silent_p.Q45Q	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	45					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						ACCGTCGCCAGCCAAACATAA	0.468												
KCNJ6	3763	broad.mit.edu	37	21	39087116	39087116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39087116G>A	uc011aej.1	-	3	397	c.344C>T	c.(343-345)GCA>GTA	p.A115V	KCNJ6_uc002ywo.2_Missense_Mutation_p.A115V	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	115	Extracellular (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	CCGTATGTATGCGATCAACCA	0.453												
DSCR4	10281	broad.mit.edu	37	21	39427042	39427042	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39427042A>T	uc002ywp.2	-	3	369	c.264T>A	c.(262-264)TGT>TGA	p.C88*		NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	88										ovary(1)	1						TCCAAATCAGACATTTTGCCC	0.438												
ERG	2078	broad.mit.edu	37	21	39755781	39755781	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:39755781G>A	uc010gnw.2	-	12	1300	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S	ERG_uc002yxa.2_Silent_p.S328S|ERG_uc011aek.1_Silent_p.S236S|ERG_uc010gnv.2_Silent_p.S212S|ERG_uc010gnx.2_Silent_p.S311S|ERG_uc011ael.1_Silent_p.S335S|ERG_uc002yxb.2_Silent_p.S311S	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	335	ETS.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AGGTGATGCAGCTGGAGTTGG	0.587												
RIPK4	54101	broad.mit.edu	37	21	43161435	43161435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43161435G>A	uc002yzn.1	-	8	1966	c.1918C>T	c.(1918-1920)CCC>TCC	p.P640S		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	640						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ACGTGCAGGGGTGTCTGTGCC	0.692												
C2CD2	25966	broad.mit.edu	37	21	43342131	43342131	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43342131C>A	uc002yzw.2	-	3	684	c.442G>T	c.(442-444)GGT>TGT	p.G148C	C2CD2_uc002yzu.2_5'Flank|C2CD2_uc002yzv.2_5'UTR|C2CD2_uc002yzx.1_5'UTR	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	148						cytosol|extracellular region|nucleus				ovary(1)	1						CATCCAGCACCCAAGGCAGGC	0.537												
ZNF295	49854	broad.mit.edu	37	21	43414117	43414117	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43414117A>T	uc002zab.3	-	3	302	c.88T>A	c.(88-90)TGT>AGT	p.C30S	ZNF295_uc002yzz.3_Missense_Mutation_p.C30S|ZNF295_uc002yzy.3_Missense_Mutation_p.C30S|ZNF295_uc002zaa.3_Missense_Mutation_p.C30S|ZNF295_uc010gov.1_Missense_Mutation_p.C30S|ZNF295_uc002zac.2_Missense_Mutation_p.C30S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	30	Mediates homodimerization.|BTB.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCACATCACACAGCTGTCCT	0.458												
SLC37A1	54020	broad.mit.edu	37	21	43955631	43955631	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:43955631G>A	uc002zbi.2	+	6	733	c.321G>A	c.(319-321)CTG>CTA	p.L107L	SLC37A1_uc002zbj.2_Silent_p.L107L	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	107	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane					0						ACTCCTTCCTGTGCGCCTATG	0.498												
PKNOX1	5316	broad.mit.edu	37	21	44430270	44430270	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:44430270T>C	uc002zcq.1	+	4	475	c.287T>C	c.(286-288)TTT>TCT	p.F96S	PKNOX1_uc002zcp.1_Missense_Mutation_p.F96S|PKNOX1_uc011aex.1_Intron|PKNOX1_uc002zcr.2_Missense_Mutation_p.F96S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	96							sequence-specific DNA binding			large_intestine(2)	2						ATCGAAAATTTTGTAAGAAAG	0.308												
PDXK	8566	broad.mit.edu	37	21	45161602	45161602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45161602A>G	uc002zdm.3	+	3	395	c.197A>G	c.(196-198)TAC>TGC	p.Y66C	PDXK_uc010gpj.2_Missense_Mutation_p.Y66C|PDXK_uc002zdn.3_Missense_Mutation_p.Y66C|PDXK_uc002zdq.3_5'UTR	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	66					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGGAGTTGTACGAAGGCCTG	0.582												
TRAPPC10	7109	broad.mit.edu	37	21	45472325	45472325	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45472325A>G	uc002zea.2	+	4	619	c.450A>G	c.(448-450)ATA>ATG	p.I150M	TRAPPC10_uc010gpo.2_Translation_Start_Site|TRAPPC10_uc002zdz.2_Missense_Mutation_p.I150M	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	150					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						TGGACAAAATAAGAAATGATT	0.353												
PWP2	5822	broad.mit.edu	37	21	45534550	45534550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45534550C>T	uc002zeb.2	+	5	461	c.371C>T	c.(370-372)GCC>GTC	p.A124V		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	124	WD 3.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ATGTATCATGCCCCTGGGAAG	0.517												
C21orf2	755	broad.mit.edu	37	21	45752928	45752928	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45752928G>A	uc002zep.2	-	4	569	c.361C>T	c.(361-363)CTG>TTG	p.L121L	C21orf2_uc002zeo.1_Silent_p.L80L|C21orf2_uc002zeq.2_Silent_p.L121L|C21orf2_uc002zer.2_Silent_p.L121L	NM_004928	NP_004919	O43822	CU002_HUMAN	hypothetical protein LOC755	121	LRRCT.										0				Colorectal(79;0.0806)		TGGTTGTCCAGCTTCTGTAGG	0.657												
C21orf29	54084	broad.mit.edu	37	21	45953666	45953666	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:45953666G>A	uc002zfe.1	-	3	510	c.444C>T	c.(442-444)CGC>CGT	p.R148R	C21orf29_uc010gpv.1_Silent_p.R80R	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	148	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						GGGCCGGGCTGCGGAAGGACA	0.687												
KRTAP10-6	386674	broad.mit.edu	37	21	46011724	46011724	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46011724G>A	uc002zfm.2	-	1	663	c.642C>T	c.(640-642)TGC>TGT	p.C214C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	214	29 X 5 AA repeats of C-C-X(3).					keratin filament					0						AAGTTGGCTGGCAGCTAGACT	0.672												
KRTAP10-9	386676	broad.mit.edu	37	21	46047214	46047214	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46047214C>T	uc002zfp.3	+	1	175	c.126C>T	c.(124-126)TGC>TGT	p.C42C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	42	25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CGGCCCCCTGCCTGACCCTGG	0.692												
ITGB2	3689	broad.mit.edu	37	21	46313382	46313382	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46313382G>A	uc002zgd.2	-	9	1205	c.1161C>T	c.(1159-1161)AGC>AGT	p.S387S	ITGB2_uc002zge.2_Silent_p.S387S|ITGB2_uc002zgf.3_Silent_p.S387S|ITGB2_uc011afl.1_Silent_p.S309S|ITGB2_uc010gpw.2_Silent_p.S330S|ITGB2_uc002zgg.2_Silent_p.S387S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	387	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCACTCCATTGCTGCAGAAGG	0.597											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C21orf70	85395	broad.mit.edu	37	21	46363606	46363606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46363606C>T	uc002zgl.2	+	2	155	c.137C>T	c.(136-138)GCG>GTG	p.A46V	C21orf70_uc002zgm.2_Missense_Mutation_p.A46V	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	46											0				Colorectal(79;0.248)		TAGGACTGGGCGTTCATCAAC	0.517												
ADARB1	104	broad.mit.edu	37	21	46591577	46591577	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:46591577T>C	uc002zgy.2	+	3	441	c.6T>C	c.(4-6)GAT>GAC	p.D2D	ADARB1_uc002zgr.2_Silent_p.D2D|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.D2D|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.D2D|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.D51D	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	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)		TTGCCATGGATATAGAAGATG	0.353												
MCM3AP	8888	broad.mit.edu	37	21	47685905	47685905	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47685905A>G	uc002zir.1	-	11	3001	c.2965T>C	c.(2965-2967)TAC>CAC	p.Y989H	MCM3AP_uc002ziq.1_5'UTR	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	989					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					TCCCCGATGTACTTGTTCTGG	0.617												
C21orf57	54059	broad.mit.edu	37	21	47711299	47711299	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47711299T>C	uc002ziv.2	+	3	691	c.262T>C	c.(262-264)TTG>CTG	p.L88L	C21orf57_uc002zit.1_Silent_p.L88L|C21orf57_uc002ziu.1_Silent_p.L88L|C21orf57_uc002ziw.2_Silent_p.L43L|C21orf57_uc002zix.2_Silent_p.L88L|C21orf57_uc010gqh.2_Intron|C21orf57_uc002ziy.2_Intron|uc010gqi.1_5'Flank	NM_058181	NP_478061	P58557	YBEY_HUMAN	hypothetical protein LOC54059 isoform 1	88							metal ion binding|metalloendopeptidase activity				0	Breast(49;0.112)			Colorectal(79;0.236)		TGACTACAATTTGGGAGACAT	0.403												
C21orf58	54058	broad.mit.edu	37	21	47738113	47738113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47738113G>A	uc002zjf.2	-	3	1256	c.122C>T	c.(121-123)GCC>GTC	p.A41V	C21orf58_uc002ziz.2_5'UTR|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_5'UTR|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	41										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		TGCAGGGCGGGCCTTACCTCC	0.652												
DIP2A	23181	broad.mit.edu	37	21	47961794	47961794	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:47961794A>G	uc002zjo.2	+	18	2345	c.2162A>G	c.(2161-2163)CAG>CGG	p.Q721R	DIP2A_uc011afy.1_Missense_Mutation_p.Q657R|DIP2A_uc011afz.1_Missense_Mutation_p.Q717R|DIP2A_uc002zjl.2_Missense_Mutation_p.Q721R|DIP2A_uc002zjm.2_Missense_Mutation_p.Q721R|DIP2A_uc010gql.2_Missense_Mutation_p.Q678R|DIP2A_uc002zjn.2_Missense_Mutation_p.Q721R|DIP2A_uc002zjp.1_Missense_Mutation_p.Q466R|DIP2A_uc002zjq.2_Missense_Mutation_p.Q113R	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	721					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)		GACGTTGGTCAGGTGATGCCT	0.393												
XKR3	150165	broad.mit.edu	37	22	17264918	17264918	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17264918G>T	uc002zlv.2	-	4	1069	c.971C>A	c.(970-972)GCA>GAA	p.A324E	XKR3_uc011agf.1_Missense_Mutation_p.A324E	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	324						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTTTCACTGCTGACCAGCA	0.418												
XKR3	150165	broad.mit.edu	37	22	17265193	17265193	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17265193C>T	uc002zlv.2	-	4	794	c.696G>A	c.(694-696)CCG>CCA	p.P232P	XKR3_uc011agf.1_Silent_p.P232P	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	232						integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATTCTATCGGCGGTAGCT	0.433												
CECR5	27440	broad.mit.edu	37	22	17625945	17625945	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17625945A>T	uc002zmf.2	-	4	534	c.506T>A	c.(505-507)ATG>AAG	p.M169K	CECR5_uc002zme.2_5'UTR|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.M139K	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	169							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CAGGTCCACCATGTCAAGCAG	0.557												
CECR1	51816	broad.mit.edu	37	22	17662465	17662465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17662465A>G	uc002zmk.1	-	9	1656	c.1444T>C	c.(1444-1446)TAC>CAC	p.Y482H	CECR1_uc010gqu.1_Missense_Mutation_p.Y482H|CECR1_uc011agi.1_Missense_Mutation_p.Y440H|CECR1_uc002zmj.1_Missense_Mutation_p.Y241H	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	482					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGGTACTGTACCTGCAGGAA	0.532												
CECR2	27443	broad.mit.edu	37	22	17984004	17984004	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:17984004A>G	uc010gqw.1	+	6	826	c.700A>G	c.(700-702)AGT>GGT	p.S234G	CECR2_uc010gqv.1_Missense_Mutation_p.S113G|CECR2_uc002zml.2_Missense_Mutation_p.S113G|CECR2_uc002zmm.1_Missense_Mutation_p.S113G	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	276					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)		CAAGCTCCTCAGTGAGGACTT	0.552												
MICAL3	57553	broad.mit.edu	37	22	18368674	18368674	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:18368674C>T	uc002zng.3	-	16	2564	c.2211G>A	c.(2209-2211)GCG>GCA	p.A737A	MICAL3_uc011agl.1_Silent_p.A737A|MICAL3_uc002znh.2_Silent_p.A737A|MICAL3_uc002znj.1_Silent_p.A437A|MICAL3_uc002znk.1_Silent_p.A737A|MICAL3_uc002znl.1_Silent_p.A370A|MICAL3_uc002znm.2_Silent_p.A238A|MICAL3_uc010grf.2_Silent_p.A737A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	737						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTGTGCGGGCGCATTCTCTT	0.547												
USP18	11274	broad.mit.edu	37	22	18643009	18643009	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:18643009T>C	uc002zny.2	+	3	566	c.228T>C	c.(226-228)AAT>AAC	p.N76N		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	76					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1						TCGTAATGAATGTGGACTTCA	0.343												
TSSK2	23617	broad.mit.edu	37	22	19119658	19119658	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19119658T>C	uc002zow.2	+	1	1338	c.746T>C	c.(745-747)ATC>ACC	p.I249T	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	249	Protein kinase.				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)					AAGGACCTCATCTACCGCATG	0.602												
SLC25A1	6576	broad.mit.edu	37	22	19165307	19165307	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19165307A>G	uc002zoz.2	-	4	489	c.374T>C	c.(373-375)CTG>CCG	p.L125P	SLC25A1_uc002zoy.2_Missense_Mutation_p.L22P|SLC25A1_uc002zpa.2_Missense_Mutation_p.L73P	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	125	Solcar 2.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GCCGCACAGCAGCCCACGCGT	0.687												
HIRA	7290	broad.mit.edu	37	22	19341012	19341012	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:19341012G>A	uc002zpf.1	-	23	2935	c.2715C>T	c.(2713-2715)TCC>TCT	p.S905S	HIRA_uc011agx.1_Silent_p.S771S|HIRA_uc010grn.1_Silent_p.S698S|HIRA_uc010gro.1_Silent_p.S861S|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	905	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CATGAGGCACGGAGAAGAGCC	0.622												
DGCR8	54487	broad.mit.edu	37	22	20079068	20079068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:20079068C>T	uc002zri.2	+	6	1767	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	DGCR8_uc010grz.2_Missense_Mutation_p.R473W|DGCR8_uc002zrj.2_Missense_Mutation_p.R116W	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	473	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGAAATGAAGCGGAAGCAGGC	0.483												
PI4KA	5297	broad.mit.edu	37	22	21101932	21101932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21101932G>A	uc002zsz.3	-	29	3359	c.3128C>T	c.(3127-3129)GCC>GTC	p.A1043V		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1043					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTGGCCATGGCCAGCCCCGT	0.488												
PI4KA	5297	broad.mit.edu	37	22	21156328	21156328	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21156328A>G	uc002zsz.3	-	14	1714	c.1483T>C	c.(1483-1485)TCG>CCG	p.S495P	PI4KA_uc010gsq.1_Missense_Mutation_p.S553P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	495					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTCTTACCCGACATGACGTTC	0.463												
LZTR1	8216	broad.mit.edu	37	22	21348936	21348936	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21348936T>C	uc002zto.2	+	15	1808	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	LZTR1_uc002ztn.2_Missense_Mutation_p.Y528H|LZTR1_uc011ahy.1_Missense_Mutation_p.Y550H|LZTR1_uc010gsr.1_3'UTR|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	569					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	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)			GTGCCGCCAGTACATCGAGGC	0.632												
HIC2	23119	broad.mit.edu	37	22	21799829	21799829	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21799829C>T	uc002zur.3	+	3	875	c.645C>T	c.(643-645)GGC>GGT	p.G215G	HIC2_uc002zus.3_Silent_p.G215G	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	215					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)				AAGGTCTGGGCCGGGCTGTCT	0.687												
HIC2	23119	broad.mit.edu	37	22	21800560	21800560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:21800560C>T	uc002zur.3	+	3	1606	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	HIC2_uc002zus.3_Missense_Mutation_p.A459V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	459	C2H2-type 1.				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)				CAGCTCAATGCGCACGTGGAG	0.612												
TOP3B	8940	broad.mit.edu	37	22	22317239	22317239	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22317239A>G	uc002zvs.2	-	12	1666	c.1231T>C	c.(1231-1233)TAC>CAC	p.Y411H	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.Y136H|TOP3B_uc010gtl.2_Missense_Mutation_p.Y411H|TOP3B_uc002zvt.3_Missense_Mutation_p.Y411H	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	411					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGGTGATGTACTCATAGAGC	0.622												
TOP3B	8940	broad.mit.edu	37	22	22318552	22318552	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22318552T>C	uc002zvs.2	-	10	1514	c.1079A>G	c.(1078-1080)CAC>CGC	p.H360R	TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.H85R|TOP3B_uc010gtl.2_Missense_Mutation_p.H360R|TOP3B_uc002zvt.3_Missense_Mutation_p.H360R	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	360					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCAGTAGGGGTGGTTGGCCTG	0.622												
ZNF280B	140883	broad.mit.edu	37	22	22842774	22842774	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22842774T>C	uc002zwc.1	-	4	1726	c.950A>G	c.(949-951)AAA>AGA	p.K317R	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTAACATTTTTTAGAACTTT	0.453												
ZNF280B	140883	broad.mit.edu	37	22	22843029	22843029	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:22843029C>A	uc002zwc.1	-	4	1471	c.695G>T	c.(694-696)GGA>GTA	p.G232V	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAAAGGTGCTCCATTCTGAAC	0.368												
GNAZ	2781	broad.mit.edu	37	22	23437986	23437986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:23437986A>G	uc002zwu.1	+	2	641	c.104A>G	c.(103-105)AAG>AGG	p.K35R	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	35						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGCGAAATCAAGCTGCTCCTG	0.602												
GGT1	2678	broad.mit.edu	37	22	25024077	25024077	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:25024077A>T	uc003aan.1	+	14	1853	c.1366A>T	c.(1366-1368)ACG>TCG	p.T456S	GGT1_uc003aas.1_Missense_Mutation_p.T456S|GGT1_uc003aat.1_Missense_Mutation_p.T456S|GGT1_uc003aau.1_Missense_Mutation_p.T456S|GGT1_uc003aav.1_Missense_Mutation_p.T456S|GGT1_uc003aaw.1_Missense_Mutation_p.T456S|GGT1_uc003aax.1_Missense_Mutation_p.T456S|GGT1_uc003aay.1_Missense_Mutation_p.T112S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	456	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CATGTGCCCGACGATCATGGT	0.662												
SGSM1	129049	broad.mit.edu	37	22	25263061	25263061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:25263061G>A	uc003abg.2	+	10	1085	c.928G>A	c.(928-930)GTC>ATC	p.V310I	SGSM1_uc003abh.2_Missense_Mutation_p.V310I|SGSM1_uc010guu.1_Missense_Mutation_p.V310I|SGSM1_uc003abj.2_Missense_Mutation_p.V310I|SGSM1_uc003abi.1_Missense_Mutation_p.V285I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	310	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCTTCCAGCGTCTACTGGGA	0.617												
MYO18B	84700	broad.mit.edu	37	22	26165129	26165129	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26165129T>C	uc003abz.1	+	4	1496	c.1246T>C	c.(1246-1248)TGT>CGT	p.C416R	MYO18B_uc003aca.1_Missense_Mutation_p.C297R|MYO18B_uc010guy.1_Missense_Mutation_p.C297R|MYO18B_uc010guz.1_Missense_Mutation_p.C297R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	416						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AGAGAAGGGCTGTGAAGCCCC	0.612												
SRRD	402055	broad.mit.edu	37	22	26884251	26884251	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26884251C>T	uc010gve.2	+	3	514	c.507C>T	c.(505-507)TGC>TGT	p.C169C	SRRD_uc003acp.3_Silent_p.C162C	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	169					rhythmic process						0						TGGAAAAGTGCCAGGTACATT	0.443												
TFIP11	24144	broad.mit.edu	37	22	26888169	26888169	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:26888169T>C	uc003acr.2	-	14	2698	c.2324A>G	c.(2323-2325)GAC>GGC	p.D775G	TFIP11_uc003acq.2_Missense_Mutation_p.D134G|TFIP11_uc003acs.2_Missense_Mutation_p.D775G|TFIP11_uc003act.2_Missense_Mutation_p.D775G|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	775					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCAATGAGGTCCTTAAAGTT	0.567												
CHEK2	11200	broad.mit.edu	37	22	29083889	29083889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29083889A>G	uc003adu.1	-	15	1700	c.1628T>C	c.(1627-1629)TTG>TCG	p.L543S	CHEK2_uc003ads.1_Missense_Mutation_p.L322S|CHEK2_uc010gvh.1_Missense_Mutation_p.L452S|CHEK2_uc010gvi.1_Missense_Mutation_p.L392S|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.L586S|CHEK2_uc003adv.1_Missense_Mutation_p.L514S|CHEK2_uc003adw.1_Missense_Mutation_p.L543S|CHEK2_uc003adx.1_Missense_Mutation_p.L322S|CHEK2_uc003ady.1_Missense_Mutation_p.L532S|CHEK2_uc003adz.1_Missense_Mutation_p.L347S	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	543					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CGGAGTTCACAACACAGCAGC	0.438			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
CHEK2	11200	broad.mit.edu	37	22	29083895	29083895	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29083895G>C	uc003adu.1	-	15	1694	c.1622C>G	c.(1621-1623)GCT>GGT	p.A541G	CHEK2_uc003ads.1_Missense_Mutation_p.A320G|CHEK2_uc010gvh.1_Missense_Mutation_p.A450G|CHEK2_uc010gvi.1_Missense_Mutation_p.A390G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.A584G|CHEK2_uc003adv.1_Missense_Mutation_p.A512G|CHEK2_uc003adw.1_Missense_Mutation_p.A541G|CHEK2_uc003adx.1_Missense_Mutation_p.A320G|CHEK2_uc003ady.1_Missense_Mutation_p.A530G|CHEK2_uc003adz.1_Missense_Mutation_p.A345G	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	541					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						TCACAACACAGCAGCACACAC	0.448			F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			
CCDC117	150275	broad.mit.edu	37	22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29182081C>T	uc003aeb.2	+	5	783	c.607C>T	c.(607-609)CGT>TGT	p.R203C	CCDC117_uc011aki.1_Missense_Mutation_p.R185C|CCDC117_uc011akj.1_Missense_Mutation_p.R128C|CCDC117_uc011akk.1_Missense_Mutation_p.R71C	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	203										breast(1)	1						TCTTAGGAGCCGTCCTTCCAT	0.398												
RFPL1	5988	broad.mit.edu	37	22	29837922	29837922	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:29837922C>T	uc003afn.2	+	2	974	c.765C>T	c.(763-765)AAC>AAT	p.N255N	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	255	B30.2/SPRY.						zinc ion binding				0						GCATGCAGAACGTTTCCTTTT	0.512												
UQCR10	29796	broad.mit.edu	37	22	30163472	30163472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:30163472G>A	uc003agq.1	+	1	115	c.85G>A	c.(85-87)GTC>ATC	p.V29I	ZMAT5_uc003agm.2_5'Flank|ZMAT5_uc003agn.2_5'Flank|ZMAT5_uc003ago.1_5'Flank|UQCR10_uc003agp.1_Missense_Mutation_p.V29I	NM_013387	NP_037519	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase complex 7.2kDa	29					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1						CATCGTGGGCGTCATGTTCTT	0.602												
SEC14L3	266629	broad.mit.edu	37	22	30864625	30864625	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:30864625A>G	uc003ahy.2	-	5	382	c.293T>C	c.(292-294)GTG>GCG	p.V98A	SEC14L3_uc003ahz.2_Missense_Mutation_p.V21A|SEC14L3_uc003aia.2_Missense_Mutation_p.V39A|SEC14L3_uc003aib.2_Missense_Mutation_p.V39A	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	98	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	GTCATACCACACGGGGCAGCC	0.547												
PLA2G3	50487	broad.mit.edu	37	22	31533758	31533758	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31533758G>T	uc003aka.2	-	4	1133	c.1004C>A	c.(1003-1005)TCT>TAT	p.S335Y		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	335					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						AAGCCTGGGAGAGACCATAGG	0.612												
LIMK2	3985	broad.mit.edu	37	22	31663869	31663869	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31663869A>G	uc003akh.2	+	10	1381	c.1236A>G	c.(1234-1236)ACA>ACG	p.T412T	LIMK2_uc003akg.2_Silent_p.T329T|LIMK2_uc003aki.2_Silent_p.T166T|LIMK2_uc003akj.2_Silent_p.T391T|LIMK2_uc003akk.2_Silent_p.T391T|LIMK2_uc011aln.1_Silent_p.T329T	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	412	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						AGGGGGGCACACTGAAGGACT	0.532												
EIF4ENIF1	56478	broad.mit.edu	37	22	31845332	31845332	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:31845332A>G	uc003akz.1	-	12	1932	c.1768_splice	c.e12+1	p.G590_splice	EIF4ENIF1_uc003akx.1_Splice_Site_p.G245_splice|EIF4ENIF1_uc003aky.1_Splice_Site_p.G269_splice|EIF4ENIF1_uc003ala.1_Splice_Site_p.G590_splice|EIF4ENIF1_uc003alb.1_Splice_Site_p.G415_splice|EIF4ENIF1_uc003akw.1_Splice_Site_p.G79_splice	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E							nucleus	protein binding|protein transporter activity			ovary(1)	1						AAGTATATTTACCAATTGGTG	0.289												
PVALB	5816	broad.mit.edu	37	22	37209708	37209708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37209708C>T	uc010gwz.2	-	3	316	c.286G>A	c.(286-288)GGC>AGC	p.G96S	PVALB_uc003apx.2_Missense_Mutation_p.G96S	NM_002854	NP_002845	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2.|2.						calcium ion binding			skin(1)	1						CCAATTTTGCCGTCCCCATCT	0.517												
SSTR3	6753	broad.mit.edu	37	22	37603130	37603130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37603130C>T	uc003ara.2	-	2	775	c.713G>A	c.(712-714)CGC>CAC	p.R238H	SSTR3_uc003arb.2_Missense_Mutation_p.R238H	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	238	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CCACACCCGGCGCCCAGCTGA	0.682												
SH3BP1	23616	broad.mit.edu	37	22	38051301	38051301	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38051301G>A	uc003ati.2	+	18	1827	c.1716G>A	c.(1714-1716)CGG>CGA	p.R572R	SH3BP1_uc003atg.1_RNA|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	572					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CGCCAGCCCGGCCCACCATGC	0.642												
GTPBP1	9567	broad.mit.edu	37	22	39123224	39123224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39123224C>T	uc003awg.2	+	9	1562	c.1408C>T	c.(1408-1410)CGC>TGC	p.R470C		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	470					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					TCAGATCAAGCGCTCGTCCAT	0.572												
APOBEC3D	140564	broad.mit.edu	37	22	39421135	39421135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39421135C>T	uc011aoe.1	+	3	325	c.271C>T	c.(271-273)CGA>TGA	p.R91*	APOBEC3D_uc011aod.1_Nonsense_Mutation_p.R91*|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Nonsense_Mutation_p.R91*|APOBEC3D_uc010gxu.2_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	91					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					CTGTGGCAACCGACTGCCTGC	0.423												
TAB1	10454	broad.mit.edu	37	22	39822886	39822886	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39822886A>G	uc003axt.2	+	9	1149	c.1100A>G	c.(1099-1101)TAC>TGC	p.Y367C	TAB1_uc003axr.2_Missense_Mutation_p.Y443C|TAB1_uc011aok.1_Missense_Mutation_p.Y201C|TAB1_uc003axu.1_Missense_Mutation_p.Y367C	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	367	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						AACTTTGGCTACCCGCTGGGC	0.652												
MGAT3	4248	broad.mit.edu	37	22	39883966	39883966	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:39883966C>T	uc003axv.3	+	2	853	c.614C>T	c.(613-615)CCG>CTG	p.P205L	MGAT3_uc010gxy.2_Missense_Mutation_p.P205L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	205	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					AGGGAGGTGCCGCGCCGCGTC	0.677												
TNRC6B	23112	broad.mit.edu	37	22	40718965	40718965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:40718965C>T	uc011aor.1	+	23	5433	c.5222C>T	c.(5221-5223)GCG>GTG	p.A1741V	TNRC6B_uc003aym.2_Missense_Mutation_p.A937V|TNRC6B_uc003ayn.3_Missense_Mutation_p.A1631V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1741					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						ACCCCAAGTGCGCCAGCTGCG	0.597												
MKL1	57591	broad.mit.edu	37	22	40827407	40827407	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:40827407A>G	uc003ayv.1	-	3	346	c.139_splice	c.e3+1	p.E47_splice	MKL1_uc003ayw.1_Splice_Site_p.E47_splice|MKL1_uc010gye.1_Splice_Site_p.E47_splice|MKL1_uc010gyf.1_Splice_Site_p.E47_splice	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein						positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAATCTCCACACCTTCCAAAA	0.468			T	RBM15	acute megakaryocytic leukemia							
MCHR1	2847	broad.mit.edu	37	22	41077604	41077604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41077604G>A	uc003ayz.2	+	2	1209	c.941G>A	c.(940-942)CGC>CAC	p.R314H	MCHR1_uc003aza.2_Missense_Mutation_p.R203H|uc003azb.1_RNA	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	314	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						GCCTCCCAGCGCAGCATCCGG	0.602												
EP300	2033	broad.mit.edu	37	22	41523566	41523566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41523566C>T	uc003azl.3	+	4	1377	c.982C>T	c.(982-984)CAT>TAT	p.H328Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	328					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						TTCTGGAGCACATACAGCTGA	0.547			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
L3MBTL2	83746	broad.mit.edu	37	22	41621074	41621074	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:41621074A>G	uc003azo.2	+	11	1409	c.1355A>G	c.(1354-1356)AAG>AGG	p.K452R	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K361R|L3MBTL2_uc003azn.2_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	452	MBT 3.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						ACTGTCTGTAAGGTGAGCCAG	0.612												
NDUFA6	4700	broad.mit.edu	37	22	42482293	42482293	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:42482293A>T	uc003bcb.2	-	3	421	c.359T>A	c.(358-360)ATT>AAT	p.I120N		NM_002490	NP_002481	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	120					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	CCATACTTTAATTGTTTCTTC	0.368												
TCF20	6942	broad.mit.edu	37	22	42610373	42610373	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:42610373C>T	uc003bcj.1	-	1	1073	c.939G>A	c.(937-939)CAG>CAA	p.Q313Q	TCF20_uc003bck.1_Silent_p.Q313Q|TCF20_uc003bnt.2_Silent_p.Q313Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	313	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						gctgctgctgctgcCCCTGTT	0.408												
ARFGAP3	26286	broad.mit.edu	37	22	43231499	43231499	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:43231499A>G	uc003bdd.2	-	4	482	c.262T>C	c.(262-264)TCT>CCT	p.S88P	ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	88	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						AAAAAGGAAGACTACAGAGAA	0.299												
SCUBE1	80274	broad.mit.edu	37	22	43634937	43634937	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:43634937C>A	uc003bdt.1	-	7	839	c.751G>T	c.(751-753)GGC>TGC	p.G251C	SCUBE1_uc003bdu.1_Missense_Mutation_p.G281C	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	251	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGGTCGCAGCCTCCGTTATTG	0.552												
PARVB	29780	broad.mit.edu	37	22	44532343	44532343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:44532343C>T	uc003ben.2	+	7	689	c.637C>T	c.(637-639)CGG>TGG	p.R213W	PARVB_uc003bem.2_Missense_Mutation_p.R246W|PARVB_uc010gzn.2_Missense_Mutation_p.R161W|PARVB_uc003beo.2_Missense_Mutation_p.R176W	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	213					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TTTTCAGAAACGGGAAGGCCT	0.552												
C22orf9	23313	broad.mit.edu	37	22	45607889	45607889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45607889A>G	uc003bfx.1	-	2	230	c.164T>C	c.(163-165)GTG>GCG	p.V55A	C22orf9_uc003bfv.1_Missense_Mutation_p.V64A|C22orf9_uc003bfw.1_Missense_Mutation_p.V60A|C22orf9_uc010gzx.2_Missense_Mutation_p.V37A	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	55							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CTTCCGGCGCACATAGAAAAG	0.617												
FAM118A	55007	broad.mit.edu	37	22	45723730	45723730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45723730G>A	uc003bfz.3	+	5	924	c.308G>A	c.(307-309)GGC>GAC	p.G103D	FAM118A_uc003bga.3_Missense_Mutation_p.G103D|uc011aqp.1_5'Flank|uc011aqq.1_5'Flank|FAM118A_uc011aqr.1_5'Flank	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	103						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TAGCGCACAGGCGATGCCAAG	0.423												
SMC1B	27127	broad.mit.edu	37	22	45740473	45740473	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45740473G>A	uc003bgc.2	-	25	3724	c.3672C>T	c.(3670-3672)GGC>GGT	p.G1224G	SMC1B_uc003bgd.2_Silent_p.G1150G	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	1224					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCTTTCTTGGCCTTCAGTGT	0.488												
SMC1B	27127	broad.mit.edu	37	22	45768124	45768124	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:45768124T>A	uc003bgc.2	-	13	2159	c.2107A>T	c.(2107-2109)ACC>TCC	p.T703S	SMC1B_uc003bgd.2_Missense_Mutation_p.T703S|SMC1B_uc003bge.1_Missense_Mutation_p.T486S	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	703	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGTATCAGGGTCTGTATTTGT	0.338												
PKDREJ	10343	broad.mit.edu	37	22	46658199	46658199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:46658199G>A	uc003bhh.2	-	1	1021	c.1021C>T	c.(1021-1023)CTT>TTT	p.L341F		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	341	Extracellular (Potential).|REJ.				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)		GCATCGCCAAGCATCACCGCC	0.582												
CELSR1	9620	broad.mit.edu	37	22	46860228	46860228	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:46860228C>T	uc003bhw.1	-	2	3559	c.3559G>A	c.(3559-3561)GTC>ATC	p.V1187I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1187	Extracellular (Potential).|Cadherin 9.				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)		AAGGCCGTGACGCTGTGGATG	0.577												
SBF1	6305	broad.mit.edu	37	22	50897976	50897976	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:50897976G>A	uc003blh.2	-	27	3806	c.3611C>T	c.(3610-3612)GCG>GTG	p.A1204V	SBF1_uc011arx.1_Missense_Mutation_p.A868V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1204	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGCACCGCCTTGGACCG	0.637												
SBF1	6305	broad.mit.edu	37	22	50900712	50900712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:50900712C>T	uc003blh.2	-	19	2513	c.2318G>A	c.(2317-2319)AGC>AAC	p.S773N	SBF1_uc011arx.1_Missense_Mutation_p.S437N|SBF1_uc003bli.2_Missense_Mutation_p.S774N	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	773					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCTTGCTGCTGTCCAGGGG	0.647												
SHANK3	85358	broad.mit.edu	37	22	51160716	51160716	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:51160716G>A	uc003bne.1	+	22	4503	c.4503G>A	c.(4501-4503)GGG>GGA	p.G1501G	SHANK3_uc003bnf.1_Silent_p.G948G|SHANK3_uc010hbg.1_Silent_p.G683G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1501										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGCTCCCTGGGCCTGAAGACG	0.672												
CRBN	51185	broad.mit.edu	37	3	3209403	3209403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:3209403G>A	uc003bpq.2	-	5	621	c.602C>T	c.(601-603)TCC>TTC	p.S201F	CRBN_uc003bpr.2_Missense_Mutation_p.S200F|CRBN_uc010hbw.2_Missense_Mutation_p.S201F|CRBN_uc011aso.1_Missense_Mutation_p.S138F	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	201	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		CTTATTGAGGGATTCTAATTG	0.383												
SETMAR	6419	broad.mit.edu	37	3	4355148	4355148	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:4355148A>G	uc011asp.1	+	2	790	c.723A>G	c.(721-723)GTA>GTG	p.V241V	SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Silent_p.V228V|SETMAR_uc003bpy.3_Intron|SETMAR_uc011asq.1_Intron|SETMAR_uc011asr.1_Intron|SETMAR_uc010hbx.2_Silent_p.V36V	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion	228	SET.|Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			ovary(1)	1		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ACTCAATGGTACCTAAGTTGG	0.363								Chromatin_Structure|Direct_reversal_of_damage				
ITPR1	3708	broad.mit.edu	37	3	4715002	4715002	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:4715002A>G	uc003bqa.2	+	21	2735	c.2387A>G	c.(2386-2388)CAG>CGG	p.Q796R	ITPR1_uc010hca.1_Missense_Mutation_p.Q781R|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.Q781R	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	796	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CGAGATCCCCAGGAACAAGTC	0.567												
RAD18	56852	broad.mit.edu	37	3	8977591	8977591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:8977591A>G	uc003brd.2	-	7	930	c.853T>C	c.(853-855)TAC>CAC	p.Y285H	RAD18_uc003bre.2_RNA	NM_020165	NP_064550	Q9NS91	RAD18_HUMAN	postreplication repair protein hRAD18p	285					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			skin(3)|ovary(2)	5				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGGGCATTGTACATGTGTACA	0.343								Rad6_pathway				
SRGAP3	9901	broad.mit.edu	37	3	9027593	9027593	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:9027593C>T	uc003brf.1	-	22	3586	c.2910G>A	c.(2908-2910)ACG>ACA	p.T970T	SRGAP3_uc003brg.1_Silent_p.T946T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	970	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGTGCAGAGCCGTGCTCATGG	0.622			T	RAF1	pilocytic astrocytoma							
FANCD2	2177	broad.mit.edu	37	3	10106464	10106464	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10106464T>C	uc003buw.2	+	23	2151	c.2073T>C	c.(2071-2073)ACT>ACC	p.T691T	FANCD2_uc003bux.1_Silent_p.T691T|FANCD2_uc003buy.1_Silent_p.T691T|FANCD2_uc010hcw.1_RNA	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	691					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AATACGACACTCAGGATGGGA	0.498			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
IRAK2	3656	broad.mit.edu	37	3	10242142	10242142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10242142G>A	uc003bve.1	+	3	443	c.367G>A	c.(367-369)GCT>ACT	p.A123T		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	123					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						TGTAAGAAAGGCTGAGGATGA	0.458												
SLC6A11	6538	broad.mit.edu	37	3	10976880	10976880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10976880C>T	uc003bvz.2	+	13	1775	c.1741C>T	c.(1741-1743)CCC>TCC	p.P581S		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	581	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGGACACTGCCCGAGGTGAG	0.647												
RAF1	5894	broad.mit.edu	37	3	12645681	12645681	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:12645681A>G	uc003bxf.3	-	7	1203	c.788T>C	c.(787-789)GTC>GCC	p.V263A	RAF1_uc011aut.1_Missense_Mutation_p.V48A|RAF1_uc011auu.1_Missense_Mutation_p.V181A	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	263			V -> A (in NS5; shows in vitro greater kinase activity and enhanced MAPK1 activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GACCATGTGGACATTAGGTGT	0.522			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
RAF1	5894	broad.mit.edu	37	3	12647712	12647712	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:12647712C>A	uc003bxf.3	-	6	1083	c.668G>T	c.(667-669)AGG>ATG	p.R223M	RAF1_uc011aut.1_Intron|RAF1_uc011auu.1_Missense_Mutation_p.R141M	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	223					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	AACAGGCATCCTGGAAACAGA	0.398			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
NUP210	23225	broad.mit.edu	37	3	13372083	13372083	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13372083A>G	uc003bxv.1	-	30	4070	c.3987T>C	c.(3985-3987)GTT>GTC	p.V1329V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1329	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)					GCACAACTGGAACCTTTTCGG	0.512												
NUP210	23225	broad.mit.edu	37	3	13381417	13381417	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13381417G>A	uc003bxv.1	-	25	3491	c.3408C>T	c.(3406-3408)GGC>GGT	p.G1136G		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1136	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)					CAGACACAGTGCCGTTCCCGA	0.438												
WNT7A	7476	broad.mit.edu	37	3	13860879	13860879	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:13860879G>A	uc003bye.1	-	4	917	c.612C>T	c.(610-612)GGC>GGT	p.G204G		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	204					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AGCCTGACACGCCGTGGCACT	0.602												
SLC6A6	6533	broad.mit.edu	37	3	14487330	14487330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:14487330G>A	uc010heg.2	+	11	626	c.335G>A	c.(334-336)TGC>TAC	p.C112Y	SLC6A6_uc003byp.2_Missense_Mutation_p.C112Y|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.C112Y|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	112					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GGCATCACCTGCTGGGAAAAG	0.423												
ZFYVE20	64145	broad.mit.edu	37	3	15124104	15124104	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:15124104T>C	uc003bzm.1	-	9	1224	c.610A>G	c.(610-612)AGT>GGT	p.S204G	ZFYVE20_uc010hek.1_Missense_Mutation_p.S204G|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	204	FYVE-type.|Ser-rich.|Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TTGCTGGCACTGGTGAGCTTG	0.577												
RFTN1	23180	broad.mit.edu	37	3	16399539	16399539	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:16399539A>G	uc003cay.2	-	7	1328	c.1046T>C	c.(1045-1047)TTG>TCG	p.L349S	RFTN1_uc010hes.2_Missense_Mutation_p.L313S	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	349						plasma membrane				ovary(3)|central_nervous_system(1)	4						TCCATCTGTCAAGCCATGTAA	0.458												
SATB1	6304	broad.mit.edu	37	3	18393499	18393499	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:18393499T>C	uc003cbh.2	-	10	3499	c.1764A>G	c.(1762-1764)CCA>CCG	p.P588P	SATB1_uc003cbi.2_Silent_p.P588P|SATB1_uc003cbj.2_Silent_p.P588P	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	588					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TCTGCTCTGCTGGAACATGGA	0.463												
KCNH8	131096	broad.mit.edu	37	3	19554757	19554757	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:19554757A>G	uc003cbk.1	+	13	2570	c.2375A>G	c.(2374-2376)AAG>AGG	p.K792R	KCNH8_uc010hex.1_Missense_Mutation_p.K253R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	792	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AGGAAAGAGAAGAACTTGAAA	0.448												
RARB	5915	broad.mit.edu	37	3	25637960	25637960	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25637960A>G	uc011awl.1	+	8	1287	c.1221A>G	c.(1219-1221)CCA>CCG	p.P407P	RARB_uc003cdi.1_Silent_p.P288P|RARB_uc003cdh.2_Silent_p.P400P	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	407	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GATCAATGCCACCTCTCATTC	0.423												
TOP2B	7155	broad.mit.edu	37	3	25665877	25665877	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25665877A>G	uc011awn.1	-	20	2449	c.2406T>C	c.(2404-2406)ATT>ATC	p.I802I	TOP2B_uc003cdj.2_Silent_p.I797I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	802					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						GAAGCAAGTTAATGTTGTTAC	0.373												
OXSM	54995	broad.mit.edu	37	3	25835717	25835717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:25835717C>T	uc003cdn.2	+	3	1219	c.1112C>T	c.(1111-1113)GCA>GTA	p.A371V	OXSM_uc011awp.1_Missense_Mutation_p.A96V|OXSM_uc010hfh.2_Missense_Mutation_p.A288V	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	371					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			ovary(1)|breast(1)	2						AAAGACCATGCATATGCCCTT	0.463												
LRRC3B	116135	broad.mit.edu	37	3	26751767	26751767	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:26751767A>G	uc003cdp.2	+	2	1193	c.604A>G	c.(604-606)ACC>GCC	p.T202A	LRRC3B_uc003cdq.2_Missense_Mutation_p.T202A	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B precursor	202						integral to membrane				pancreas(2)|ovary(1)|skin(1)	4						TAAAAAAACTACCGATTATGC	0.468												
SLC4A7	9497	broad.mit.edu	37	3	27444675	27444675	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:27444675T>A	uc003cdv.2	-	15	2320	c.2249A>T	c.(2248-2250)TAT>TTT	p.Y750F	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.Y631F|SLC4A7_uc011aww.1_Missense_Mutation_p.Y759F|SLC4A7_uc011awx.1_Missense_Mutation_p.Y746F|SLC4A7_uc011awy.1_Missense_Mutation_p.Y742F|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.Y631F|SLC4A7_uc011axb.1_Missense_Mutation_p.Y746F|SLC4A7_uc010hfl.2_Missense_Mutation_p.Y300F|SLC4A7_uc003cdw.2_Missense_Mutation_p.Y626F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	750	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ATTAAATGCATATGTTTCTCC	0.338												
SLC4A7	9497	broad.mit.edu	37	3	27472885	27472885	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:27472885T>C	uc003cdv.2	-	7	1098	c.1027A>G	c.(1027-1029)ATT>GTT	p.I343V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Missense_Mutation_p.I352V|SLC4A7_uc011awx.1_Missense_Mutation_p.I339V|SLC4A7_uc011awy.1_Missense_Mutation_p.I335V|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Missense_Mutation_p.I339V|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	343	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						ACTGTGGGAATATCATCACTG	0.512												
ZCWPW2	152098	broad.mit.edu	37	3	28562525	28562525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:28562525T>C	uc003ceh.2	+	9	995	c.827T>C	c.(826-828)ATG>ACG	p.M276T	ZCWPW2_uc003cei.2_Missense_Mutation_p.M276T|ZCWPW2_uc010hfo.2_Missense_Mutation_p.M81T	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	276							zinc ion binding			ovary(2)	2						CTGGAGCAAATGCTGCAGCAA	0.363												
GPD1L	23171	broad.mit.edu	37	3	32181767	32181767	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32181767C>T	uc003cew.2	+	4	474	c.414C>T	c.(412-414)ATC>ATT	p.I138I		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	138					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						CTGACATCATCCGTGAGAAGA	0.512												
DYNC1LI1	51143	broad.mit.edu	37	3	32586484	32586484	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32586484T>C	uc003cfb.3	-	4	540	c.452A>G	c.(451-453)GAC>GGC	p.D151G	DYNC1LI1_uc011axh.1_Intron	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	151					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						CTTTGACATGTCAACAACCAG	0.393												
TRIM71	131405	broad.mit.edu	37	3	32859684	32859684	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32859684A>T	uc003cff.2	+	1	175	c.112A>T	c.(112-114)ACG>TCG	p.T38S		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	38	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CTCCTCGCAGACGTCCACGTC	0.527												
TRIM71	131405	broad.mit.edu	37	3	32860312	32860312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32860312C>T	uc003cff.2	+	1	803	c.740C>T	c.(739-741)GCC>GTC	p.A247V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	247					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GGTCCCGGTGCCGCAGCAGCG	0.716												
TRIM71	131405	broad.mit.edu	37	3	32932496	32932496	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:32932496T>C	uc003cff.2	+	4	1863	c.1800T>C	c.(1798-1800)GGT>GGC	p.G600G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	600	NHL 1.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCAGTGAGGGTGACAGCGATG	0.602												
ARPP21	10777	broad.mit.edu	37	3	35835235	35835235	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:35835235T>C	uc003cgb.2	+	20	2488	c.2224T>C	c.(2224-2226)TAC>CAC	p.Y742H	ARPP21_uc003cga.2_Missense_Mutation_p.Y723H|ARPP21_uc011axy.1_Missense_Mutation_p.Y743H|ARPP21_uc003cgf.2_Missense_Mutation_p.Y578H|ARPP21_uc003cgg.2_Missense_Mutation_p.Y265H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	742	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						CCAGCAGTCATACCAACAGCC	0.498												
TRANK1	9881	broad.mit.edu	37	3	36884146	36884146	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:36884146C>A	uc003cgj.2	-	8	3767	c.3465G>T	c.(3463-3465)CAG>CAT	p.Q1155H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1705	TPR 3.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						AGTAATCTCCCTGTGCAATCC	0.493												
GOLGA4	2803	broad.mit.edu	37	3	37368396	37368396	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:37368396T>C	uc003cgv.2	+	14	5323	c.5019T>C	c.(5017-5019)CAT>CAC	p.H1673H	GOLGA4_uc010hgr.1_Silent_p.H1234H|GOLGA4_uc003cgw.2_Silent_p.H1695H|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.H1554H	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1673	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						CAGAAAGCCATTTGAGTGAGC	0.343												
EXOG	9941	broad.mit.edu	37	3	38565616	38565616	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38565616C>T	uc003cih.2	+	6	966	c.870C>T	c.(868-870)ATC>ATT	p.I290I	EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Silent_p.I240I|EXOG_uc003cij.2_Silent_p.I150I|EXOG_uc010hhd.2_Silent_p.I150I|EXOG_uc010hhe.2_Silent_p.I150I|EXOG_uc003cik.2_Silent_p.I150I|EXOG_uc010hhf.2_Silent_p.I150I|EXOG_uc003cii.2_Silent_p.I150I	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	290						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding				0						CTAGTGATATCCGGAATATCT	0.468												
SCN10A	6336	broad.mit.edu	37	3	38781019	38781019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38781019C>T	uc003ciq.2	-	14	2267	c.2267G>A	c.(2266-2268)CGG>CAG	p.R756Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	756	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCGGAAGCTCCGCAGCACAGA	0.522												
TTC21A	199223	broad.mit.edu	37	3	39156128	39156128	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39156128A>G	uc003cjc.2	+	6	788	c.611A>G	c.(610-612)AAC>AGC	p.N204S	TTC21A_uc003cja.2_Missense_Mutation_p.N204S|TTC21A_uc010hho.1_Missense_Mutation_p.N126S|TTC21A_uc003cjb.2_Silent_p.E70E|TTC21A_uc003cje.2_Missense_Mutation_p.N204S|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.N163S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	204	TPR 4.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGGTGGTGAACCAGATCACT	0.552												
TTC21A	199223	broad.mit.edu	37	3	39179775	39179775	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39179775T>C	uc003cjc.2	+	27	3891	c.3714T>C	c.(3712-3714)TAT>TAC	p.Y1238Y	TTC21A_uc003cje.2_Silent_p.Y1239Y|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.Y1190Y|TTC21A_uc003cjf.2_Silent_p.Y359Y	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	1238	TPR 18.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAAGGCCTATGAGTACATGG	0.567												
XIRP1	165904	broad.mit.edu	37	3	39228088	39228088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:39228088G>A	uc003cjk.1	-	2	3070	c.2849C>T	c.(2848-2850)GCT>GTT	p.A950V	XIRP1_uc003cji.2_Missense_Mutation_p.A950V|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	950							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)		ACTCGGGTCAGCCGGGGGCTC	0.642												
MYRIP	25924	broad.mit.edu	37	3	40204292	40204292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:40204292C>T	uc003cka.2	+	5	676	c.541C>T	c.(541-543)CAG>TAG	p.Q181*	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Nonsense_Mutation_p.Q181*|MYRIP_uc010hhw.2_Nonsense_Mutation_p.Q92*|MYRIP_uc010hhx.1_Nonsense_Mutation_p.Q181*|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	181	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ATTTTATAGGCAGTCAGAAGG	0.463												
MYRIP	25924	broad.mit.edu	37	3	40211476	40211476	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:40211476A>C	uc003cka.2	+	8	900	c.765A>C	c.(763-765)CAA>CAC	p.Q255H	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.Q255H|MYRIP_uc010hhw.2_Missense_Mutation_p.Q166H|MYRIP_uc011ayz.1_Missense_Mutation_p.Q68H	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	255	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGAGCAGCAAGTGGAAGAAG	0.542												
ZNF662	389114	broad.mit.edu	37	3	42950328	42950328	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:42950328G>A	uc003cmi.2	+	3	430	c.78G>A	c.(76-78)GAG>GAA	p.E26E	ZNF662_uc003cmk.2_Silent_p.E86E|ZNF662_uc003cmj.2_5'UTR	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCCAGCTGGAGCGAGGGGAAA	0.572												
SNRK	54861	broad.mit.edu	37	3	43390009	43390009	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:43390009T>C	uc003cms.3	+	7	2590	c.2258T>C	c.(2257-2259)CTG>CCG	p.L753P	SNRK_uc003cmt.3_Missense_Mutation_p.L753P|SNRK_uc010hik.2_Missense_Mutation_p.L753P|SNRK_uc011azr.1_Missense_Mutation_p.L547P	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	753					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GAGGGGCTGCTGTGCGCATCC	0.562												
ZNF197	10168	broad.mit.edu	37	3	44685542	44685542	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44685542A>G	uc003cnm.2	+	6	3126	c.2920A>G	c.(2920-2922)ACT>GCT	p.T974A	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	974	C2H2-type 22.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAAAAACCTTACTGTACATCA	0.368												
ZNF35	7584	broad.mit.edu	37	3	44700874	44700874	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44700874G>A	uc003cnq.2	+	4	1240	c.1019G>A	c.(1018-1020)GGG>GAG	p.G340E	ZNF35_uc003cnr.2_Missense_Mutation_p.G180E	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	340	C2H2-type 5.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AATGAATGTGGGAAAACATTT	0.453												
KIAA1143	57456	broad.mit.edu	37	3	44795767	44795767	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44795767A>G	uc011bac.1	-	2	281	c.202T>C	c.(202-204)TCA>CCA	p.S68P		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	68											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCAACTGACAGGTCTCCC	0.428												
KIF15	56992	broad.mit.edu	37	3	44816918	44816918	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:44816918G>A	uc003cnx.3	+	3	384	c.235G>A	c.(235-237)GAT>AAT	p.D79N	KIF15_uc010hiq.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	79	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCAGATGTGGATACCACTCA	0.313												
LRRC2	79442	broad.mit.edu	37	3	46580617	46580617	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:46580617A>G	uc010hji.2	-	4	772	c.408T>C	c.(406-408)ATT>ATC	p.I136I	LRRC2_uc003cpu.3_Silent_p.I136I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	136	LRR 1.									ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TATATGTAGGAATGATTTGAA	0.383												
PTPN23	25930	broad.mit.edu	37	3	47447981	47447981	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47447981A>G	uc003crf.1	+	8	734	c.638A>G	c.(637-639)TAC>TGC	p.Y213C	PTPN23_uc011baw.1_Missense_Mutation_p.Y178C|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.Y83C	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	213	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGGTAGATTACTACAAGGAG	0.582												
SCAP	22937	broad.mit.edu	37	3	47461115	47461115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47461115G>A	uc003crh.1	-	13	1898	c.1643C>T	c.(1642-1644)ACG>ATG	p.T548M	SCAP_uc011baz.1_Missense_Mutation_p.T293M|SCAP_uc003crg.2_Missense_Mutation_p.T156M	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	548	Lumenal (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCTCTGTTCCGTCACCTGGGC	0.652												
C3orf75	54859	broad.mit.edu	37	3	47537573	47537573	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47537573G>A	uc003crk.2	-	7	906	c.787C>T	c.(787-789)CCT>TCT	p.P263S	C3orf75_uc003crj.2_Missense_Mutation_p.P190S|C3orf75_uc011bba.1_Missense_Mutation_p.P214S	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	263											0						AGAACAGCAGGAGACATTCCT	0.488												
DHX30	22907	broad.mit.edu	37	3	47888784	47888784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47888784G>A	uc003cru.2	+	12	2377	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	DHX30_uc003crt.2_Missense_Mutation_p.D612N|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	651						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGCGCACTCGATTTGGACCT	0.607												
MAP4	4134	broad.mit.edu	37	3	47896766	47896766	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:47896766C>T	uc003csb.2	-	17	3759	c.3233G>A	c.(3232-3234)GGC>GAC	p.G1078D	MAP4_uc003csc.3_Missense_Mutation_p.G1078D|MAP4_uc003crw.2_Missense_Mutation_p.G157D|MAP4_uc003crx.2_Missense_Mutation_p.G254D|MAP4_uc011bbe.1_Missense_Mutation_p.G791D|MAP4_uc003cry.2_Missense_Mutation_p.G813D|MAP4_uc003csa.3_Missense_Mutation_p.G744D|MAP4_uc003crz.3_RNA	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1078	Tau/MAP 4.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGGTAGGTGGCCCACATTATC	0.557												
ATRIP	84126	broad.mit.edu	37	3	48506470	48506470	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48506470A>G	uc003ctf.1	+	12	2328	c.2296A>G	c.(2296-2298)ACG>GCG	p.T766A	ATRIP_uc011bbj.1_Missense_Mutation_p.T639A|ATRIP_uc003ctg.1_Missense_Mutation_p.T739A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	766					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGATGTGACGGACTGTGA	0.587								Other_conserved_DNA_damage_response_genes				
UQCRC1	7384	broad.mit.edu	37	3	48638787	48638787	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48638787C>T	uc003cub.1	-	7	865	c.820G>A	c.(820-822)GAG>AAG	p.E274K	UQCRC1_uc003cua.1_Missense_Mutation_p.E159K|UQCRC1_uc003cuc.1_Missense_Mutation_p.E275K|UQCRC1_uc003cud.1_Missense_Mutation_p.E274K	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	274					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CAGCATACCTCACTGCCAGTG	0.582												
CELSR3	1951	broad.mit.edu	37	3	48692534	48692534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48692534C>T	uc003cul.2	-	6	5212	c.4931G>A	c.(4930-4932)GGT>GAT	p.G1644D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1714D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1644	Extracellular (Potential).|Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AATCTCAGCACCAAACTGCAG	0.607												
CELSR3	1951	broad.mit.edu	37	3	48699322	48699322	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:48699322G>T	uc003cul.2	-	1	1027	c.746C>A	c.(745-747)CCA>CAA	p.P249Q	CELSR3_uc003cuf.1_Missense_Mutation_p.P319Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	249	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGTGCGTGGTGCTGAATC	0.687											OREG0004260	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CELSR3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
QRICH1	54870	broad.mit.edu	37	3	49084644	49084644	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49084644C>T	uc010hkq.2	-	5	1670	c.1374G>A	c.(1372-1374)CAG>CAA	p.Q458Q	QRICH1_uc003cvu.2_Silent_p.Q458Q|QRICH1_uc003cvv.2_Silent_p.Q458Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	458	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGGCTGTGACTGTGGTTCAA	0.433												
QARS	5859	broad.mit.edu	37	3	49137466	49137466	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49137466A>G	uc003cvx.2	-	14	1228	c.1223T>C	c.(1222-1224)ATG>ACG	p.M408T	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.M263T|QARS_uc003cvy.2_Missense_Mutation_p.M263T|QARS_uc011bce.1_Missense_Mutation_p.M397T	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	408					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GCCATCCTCCATCACCAGCTT	0.567												
USP19	10869	broad.mit.edu	37	3	49149178	49149178	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49149178C>A	uc003cwd.1	-	20	2824	c.2663G>T	c.(2662-2664)GGC>GTC	p.G888V	USP19_uc003cwa.2_Missense_Mutation_p.G696V|USP19_uc003cvz.3_Missense_Mutation_p.G991V|USP19_uc011bcg.1_Missense_Mutation_p.G979V|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.G646V|USP19_uc011bch.1_Missense_Mutation_p.G989V	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	888	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGGTGCAGCCAGGGCTCTG	0.597												
USP19	10869	broad.mit.edu	37	3	49153556	49153556	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49153556C>T	uc003cwd.1	-	9	1253	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	USP19_uc003cwa.2_Silent_p.T170T|USP19_uc003cvz.3_Silent_p.T465T|USP19_uc011bcg.1_Silent_p.T455T|USP19_uc003cwb.2_Silent_p.T450T|USP19_uc003cwc.1_Silent_p.T120T|USP19_uc011bch.1_Silent_p.T465T|USP19_uc011bci.1_Silent_p.T450T	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	364	CS 2.|Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCGAGAAGCCGTGAAACAGA	0.572												
USP4	7375	broad.mit.edu	37	3	49362429	49362429	+	Silent	SNP	C	C	T	rs145047321	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49362429C>T	uc003cwq.2	-	5	610	c.531G>A	c.(529-531)GCG>GCA	p.A177A	USP4_uc003cwr.2_Silent_p.A177A	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	177					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTCACGCTCCGCAGGGATGT	0.502												
DAG1	1605	broad.mit.edu	37	3	49570262	49570262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49570262T>C	uc003cxc.3	+	3	2736	c.2318T>C	c.(2317-2319)ATC>ACC	p.I773T		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	773	Helical; (Potential).				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATTGCCATGATCTGCTACCGC	0.557												
BSN	8927	broad.mit.edu	37	3	49690049	49690049	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49690049G>T	uc003cxe.3	+	5	3174	c.3060G>T	c.(3058-3060)AAG>AAT	p.K1020N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1020					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGAAGCAAAGCAGCAGCGCA	0.657												
IP6K1	9807	broad.mit.edu	37	3	49765012	49765012	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49765012C>T	uc003cxm.1	-	6	1184	c.869G>A	c.(868-870)CGC>CAC	p.R290H	IP6K1_uc003cxn.1_Missense_Mutation_p.R125H|IP6K1_uc011bcv.1_Missense_Mutation_p.R125H|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	290					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GAGGGCATTGCGGAAGCCTTC	0.562												
RBM6	10180	broad.mit.edu	37	3	50095840	50095840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:50095840A>G	uc003cyc.2	+	10	2108	c.1975A>G	c.(1975-1977)ATG>GTG	p.M659V	RBM6_uc010hlc.1_Missense_Mutation_p.M178V|RBM6_uc003cyd.2_Missense_Mutation_p.M137V|RBM6_uc003cye.2_Missense_Mutation_p.M137V|RBM6_uc011bdi.1_Missense_Mutation_p.M1V|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	659					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTCAGCTATCATGCTAAAGCG	0.428												
RASSF1	11186	broad.mit.edu	37	3	50368119	50368119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:50368119G>A	uc003dad.1	-	6	1059	c.928C>T	c.(928-930)CGT>TGT	p.R310C	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Missense_Mutation_p.R155C|RASSF1_uc003dab.1_Missense_Mutation_p.R236C|RASSF1_uc003dac.2_Missense_Mutation_p.R155C|RASSF1_uc003dae.1_Missense_Mutation_p.R306C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R155C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	310	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCAGGATACGTAGGAAGTTA	0.597												
RBM15B	29890	broad.mit.edu	37	3	51431424	51431424	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51431424A>G	uc003dbd.2	+	1	2694	c.2594A>G	c.(2593-2595)TAC>TGC	p.Y865C		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	865	Interaction with Epstein-Barr virus BMLF1.|SPOC.				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)		TCCCAGCAGTACCTCCAGTCA	0.582												
VPRBP	9730	broad.mit.edu	37	3	51458330	51458330	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51458330A>G	uc003dbe.1	-	14	2262	c.2094T>C	c.(2092-2094)AGT>AGC	p.S698S	VPRBP_uc003dbf.1_5'UTR	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	698					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTTACCAATACTGGATATTC	0.458												
PCBP4	57060	broad.mit.edu	37	3	51993259	51993259	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:51993259G>T	uc003dcd.1	-	9	1082	c.686C>A	c.(685-687)CCC>CAC	p.P229H	PCBP4_uc003dcb.1_Missense_Mutation_p.P195H|PCBP4_uc003dcc.1_Missense_Mutation_p.P250H|PCBP4_uc003dce.1_Silent_p.T230T|PCBP4_uc003dcf.1_Missense_Mutation_p.P229H|PCBP4_uc003dcg.1_Missense_Mutation_p.P195H|PCBP4_uc003dch.1_Missense_Mutation_p.P229H|PCBP4_uc003dci.1_Missense_Mutation_p.P69H|PCBP4_uc003dcj.1_Missense_Mutation_p.P229H|PCBP4_uc003dck.1_Missense_Mutation_p.P186H|PCBP4_uc003dcl.1_Missense_Mutation_p.P229H	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	229						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCACGCTGGGTGTGGCAAA	0.637												
TLR9	54106	broad.mit.edu	37	3	52257500	52257500	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52257500C>T	uc003dda.1	-	2	1466	c.832G>A	c.(832-834)GAT>AAT	p.D278N	TLR9_uc003ddb.2_Missense_Mutation_p.D375N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	278	Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGAAGGTATCGGGATGTAGC	0.622												
DNAH1	25981	broad.mit.edu	37	3	52429688	52429688	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52429688C>T	uc011bef.1	+	70	11514	c.11253C>T	c.(11251-11253)CCC>CCT	p.P3751P	DNAH1_uc003ddv.2_Silent_p.P609P	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3816	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATCAACCCCGACAAGGTGT	0.493												
NISCH	11188	broad.mit.edu	37	3	52522536	52522536	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52522536A>G	uc011beg.1	+	17	3100	c.3028A>G	c.(3028-3030)ACT>GCT	p.T1010A	NISCH_uc003ded.3_Missense_Mutation_p.T1010A|NISCH_uc003dee.3_Missense_Mutation_p.T499A|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1010					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GGACCTGAAGACTGTGGTCAT	0.652												
STAB1	23166	broad.mit.edu	37	3	52540711	52540711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52540711C>T	uc003dej.2	+	18	1908	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	STAB1_uc003dei.1_Missense_Mutation_p.R612C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	612	Extracellular (Potential).|FAS1 2.				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)		GCCGCAGGGGCGCATCCTGCT	0.692												
STAB1	23166	broad.mit.edu	37	3	52556376	52556376	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52556376T>C	uc003dej.2	+	60	6570	c.6496T>C	c.(6496-6498)TAC>CAC	p.Y2166H	STAB1_uc003dek.1_Missense_Mutation_p.Y181H|STAB1_uc003del.2_Missense_Mutation_p.Y53H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2166	EGF-like 16.|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)		CCACGCAGGCTACGTAGGCGA	0.642												
CACNA1D	776	broad.mit.edu	37	3	53766111	53766111	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53766111T>C	uc003dgv.3	+	18	2636	c.2473_splice	c.e18+2	p.V825_splice	CACNA1D_uc003dgu.3_Splice_Site_p.V845_splice|CACNA1D_uc003dgy.3_Splice_Site_p.V825_splice|CACNA1D_uc003dgw.3_Splice_Site_p.V492_splice|CACNA1D_uc003dgx.1_Splice_Site	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGTGCCAGGTATGGTGGCGG	0.572												
CACNA1D	776	broad.mit.edu	37	3	53783469	53783469	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53783469T>C	uc003dgv.3	+	27	3652	c.3489T>C	c.(3487-3489)TAT>TAC	p.Y1163Y	CACNA1D_uc003dgu.3_Silent_p.Y1183Y|CACNA1D_uc003dgy.3_Silent_p.Y1163Y|CACNA1D_uc003dgw.3_Silent_p.Y830Y|CACNA1D_uc003dgx.1_Silent_p.Y311Y	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1163	Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAAAAGAGTATAAGAACTGTG	0.403												
CACNA1D	776	broad.mit.edu	37	3	53844288	53844288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53844288G>A	uc003dgv.3	+	47	6318	c.6155G>A	c.(6154-6156)AGC>AAC	p.S2052N	CACNA1D_uc003dgu.3_Missense_Mutation_p.S2072N|CACNA1D_uc003dgy.3_Missense_Mutation_p.S2028N|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1719N|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	2052	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAAACAGCGACAAGCAG	0.597												
ACTR8	93973	broad.mit.edu	37	3	53904097	53904097	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:53904097T>C	uc003dhd.2	-	12	1702	c.1643A>G	c.(1642-1644)CAA>CGA	p.Q548R	ACTR8_uc003dhb.2_Missense_Mutation_p.Q253R|ACTR8_uc003dhc.2_Missense_Mutation_p.Q437R	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	548					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CAGAAATTCTTGAGCTTTATG	0.428												
LRTM1	57408	broad.mit.edu	37	3	54958882	54958882	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:54958882T>C	uc003dhl.2	-	2	502	c.368A>G	c.(367-369)CAG>CGG	p.Q123R	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	123	LRR 4.|Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTCCCTCAGCTGAGGGAGGGA	0.478												
ARHGEF3	50650	broad.mit.edu	37	3	56771226	56771226	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:56771226T>A	uc003dig.2	-	8	1197	c.1028A>T	c.(1027-1029)AAC>ATC	p.N343I	ARHGEF3_uc011bew.1_Missense_Mutation_p.N343I|ARHGEF3_uc003dih.2_Missense_Mutation_p.N375I|ARHGEF3_uc011bev.1_Missense_Mutation_p.N314I|ARHGEF3_uc003dif.2_Missense_Mutation_p.N349I|ARHGEF3_uc010hmy.1_Missense_Mutation_p.N141I|ARHGEF3_uc003dii.2_Missense_Mutation_p.N343I	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	343	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GCCCCGATTGTTCTTCAGTTC	0.473												
APPL1	26060	broad.mit.edu	37	3	57294720	57294720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:57294720T>C	uc003dio.2	+	19	1907	c.1760T>C	c.(1759-1761)GTT>GCT	p.V587A	APPL1_uc010hnb.2_Missense_Mutation_p.V587A|APPL1_uc011bey.1_Missense_Mutation_p.V570A	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	587	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTGGATTTGTTCTTCGGACA	0.398												
FLNB	2317	broad.mit.edu	37	3	57994331	57994331	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:57994331T>C	uc003djj.2	+	1	205	c.40T>C	c.(40-42)TGG>CGG	p.W14R	FLNB_uc010hne.2_Missense_Mutation_p.W14R|FLNB_uc003djk.2_Missense_Mutation_p.W14R|FLNB_uc010hnf.2_Missense_Mutation_p.W14R	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	14	Actin-binding.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGACGCGCCTTGGAAGAAGAT	0.612												
ABHD6	57406	broad.mit.edu	37	3	58279454	58279454	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:58279454T>C	uc003djs.3	+	9	1386	c.976T>C	c.(976-978)TCT>CCT	p.S326P	ABHD6_uc003djr.2_Missense_Mutation_p.S327P|ABHD6_uc003djt.3_Missense_Mutation_p.S326P	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	326	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTTTTTAGCTTCTGTGCACAA	0.522												
MAGI1	9223	broad.mit.edu	37	3	65415576	65415576	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:65415576T>G	uc003dmn.2	-	12	2312	c.1786A>C	c.(1786-1788)AGT>CGT	p.S596R	MAGI1_uc003dmm.2_Missense_Mutation_p.S596R|MAGI1_uc003dmo.2_Missense_Mutation_p.S596R|MAGI1_uc003dmp.2_Missense_Mutation_p.S596R|MAGI1_uc010hny.2_Missense_Mutation_p.S481R	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	596					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTTTTACTACTGTGGCTAGCT	0.453												
MAGI1	9223	broad.mit.edu	37	3	66023680	66023680	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:66023680C>A	uc003dmn.2	-	1	830	c.304G>T	c.(304-306)GTC>TTC	p.V102F	MAGI1_uc003dmm.2_Missense_Mutation_p.V102F|MAGI1_uc003dmo.2_Missense_Mutation_p.V102F|MAGI1_uc003dmp.2_Missense_Mutation_p.V102F|MAGI1_uc003dmr.2_Missense_Mutation_p.V102F	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	102	Guanylate kinase-like.|PDZ 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTTGTCTGACGGCCTTGAAG	0.647												
LRIG1	26018	broad.mit.edu	37	3	66436422	66436422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:66436422G>A	uc003dmx.2	-	13	1786	c.1772C>T	c.(1771-1773)GCC>GTC	p.A591V	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A211V|LRIG1_uc003dmw.2_Missense_Mutation_p.A257V|LRIG1_uc010hnz.2_Missense_Mutation_p.A307V|LRIG1_uc010hoa.2_Missense_Mutation_p.A615V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	591	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTGAGCCTGGCCTTATGTGA	0.498												
SUCLG2	8801	broad.mit.edu	37	3	67568750	67568750	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:67568750T>C	uc003dna.3	-	6	609	c.581A>G	c.(580-582)GAC>GGC	p.D194G	SUCLG2_uc010hob.2_Missense_Mutation_p.D75G	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	194	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCAAAAATGTCAATTTGCTC	0.368												
FOXP1	27086	broad.mit.edu	37	3	71247436	71247436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:71247436G>A	uc003dol.2	-	2	420	c.97C>T	c.(97-99)CGG>TGG	p.R33W	FOXP1_uc003dom.2_Missense_Mutation_p.R33W|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R33W|FOXP1_uc003dop.2_Missense_Mutation_p.R33W|FOXP1_uc003doq.1_Missense_Mutation_p.R33W|FOXP1_uc003dos.2_Missense_Mutation_p.R33W	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	33					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCCCTCCCGAAGACCGCCG	0.607			T	PAX5	ALL							
PPP4R2	151987	broad.mit.edu	37	3	73108188	73108188	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:73108188T>C	uc003dph.1	+	4	358	c.288T>C	c.(286-288)GGT>GGC	p.G96G	PPP4R2_uc003dpi.1_Silent_p.I39I|FLJ10213_uc003dpj.2_5'Flank	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	96					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTTTTTGCAGTATCCCTTTTA	0.338												
CNTN3	5067	broad.mit.edu	37	3	74383946	74383946	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:74383946A>G	uc003dpm.1	-	12	1688	c.1608T>C	c.(1606-1608)TAT>TAC	p.Y536Y		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	536	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCCATTGAAATACCAGGTAA	0.373												
ROBO2	6092	broad.mit.edu	37	3	77623872	77623872	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:77623872A>G	uc003dpy.3	+	14	2837	c.2194A>G	c.(2194-2196)ACT>GCT	p.T732A	ROBO2_uc003dpz.2_Missense_Mutation_p.T736A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T736A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	732	Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGTTCGTACTACTGAAGAAGG	0.338												
GBE1	2632	broad.mit.edu	37	3	81548278	81548278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:81548278G>A	uc003dqg.2	-	16	2318	c.2035C>T	c.(2035-2037)CGT>TGT	p.R679C		NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	679					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAATAGGGACGCCCATTATGT	0.348									Glycogen_Storage_Disease_type_IV			
ZNF654	55279	broad.mit.edu	37	3	88189082	88189082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:88189082C>T	uc003dqv.2	+	1	821	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	208	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGTTGTGTCCGGATATTTAA	0.368												
EPHA6	285220	broad.mit.edu	37	3	96706732	96706732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:96706732C>T	uc010how.1	+	3	1052	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	EPHA6_uc003drp.1_Missense_Mutation_p.R337C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	242	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TGCTGAAGAGCGTGACACTCC	0.468												
DCBLD2	131566	broad.mit.edu	37	3	98538224	98538224	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:98538224G>A	uc003dtd.2	-	8	1272	c.909C>T	c.(907-909)ATC>ATT	p.I303I	DCBLD2_uc003dte.2_Silent_p.I303I	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	303	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GAGGATCCGCGATCACACCAG	0.443												
DCBLD2	131566	broad.mit.edu	37	3	98541118	98541118	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:98541118T>C	uc003dtd.2	-	6	1147	c.784A>G	c.(784-786)ATC>GTC	p.I262V	DCBLD2_uc003dte.2_Missense_Mutation_p.I262V	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	262	Extracellular (Potential).|LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						TAATAGGGGATACCTTTACTA	0.398												
FILIP1L	11259	broad.mit.edu	37	3	99567788	99567788	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:99567788A>G	uc003dtm.2	-	5	3195	c.2732T>C	c.(2731-2733)GTA>GCA	p.V911A	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.V911A|FILIP1L_uc010hpf.2_Missense_Mutation_p.V487A|FILIP1L_uc010hpg.2_Missense_Mutation_p.V671A|FILIP1L_uc003dtn.2_Missense_Mutation_p.V671A|FILIP1L_uc003dtp.1_Missense_Mutation_p.V671A	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	911						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						TGTGTTTTGTACATGGTCTGG	0.473												
C3orf26	84319	broad.mit.edu	37	3	99881157	99881157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:99881157C>T	uc003dtl.2	+	4	379	c.236C>T	c.(235-237)ACT>ATT	p.T79I		NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	hypothetical protein LOC84319	79							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(1)	1						AAGAAAATTACTGATGTTCTT	0.373												
CEP97	79598	broad.mit.edu	37	3	101447772	101447772	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101447772A>G	uc003dvk.1	+	4	465	c.438A>G	c.(436-438)GTA>GTG	p.V146V	CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Silent_p.V146V|CEP97_uc003dvl.1_Intron	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	146	LRR 5.					centrosome|nucleus	protein binding			ovary(2)	2						CTAAATTGGTATCCCTGAAAG	0.348												
CEP97	79598	broad.mit.edu	37	3	101451384	101451384	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101451384A>G	uc003dvk.1	+	6	641	c.614A>G	c.(613-615)AAT>AGT	p.N205S	CEP97_uc010hpm.1_Missense_Mutation_p.N171S|CEP97_uc011bhf.1_Missense_Mutation_p.N205S|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.N43S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	205	LRR 8.					centrosome|nucleus	protein binding			ovary(2)	2						ATTATGAACAATCCTTGTGTG	0.413												
ZPLD1	131368	broad.mit.edu	37	3	102181167	102181167	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:102181167T>G	uc003dvs.1	+	13	1507	c.625T>G	c.(625-627)TTA>GTA	p.L209V	ZPLD1_uc003dvt.1_Missense_Mutation_p.L225V|ZPLD1_uc011bhg.1_Missense_Mutation_p.L209V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	209	ZP.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						CAGTATAGGATTACCTTTGAA	0.353												
MORC1	27136	broad.mit.edu	37	3	108688562	108688562	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:108688562T>C	uc003dxl.2	-	26	2645	c.2558A>G	c.(2557-2559)CAG>CGG	p.Q853R	MORC1_uc011bhn.1_Missense_Mutation_p.Q832R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	853					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTCTGGGCACTGCTCCAGCTG	0.358												
DPPA4	55211	broad.mit.edu	37	3	109050618	109050618	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:109050618T>C	uc003dxq.3	-	4	408	c.353A>G	c.(352-354)TAT>TGT	p.Y118C	DPPA4_uc011bho.1_Missense_Mutation_p.Y118C|DPPA4_uc011bhp.1_Missense_Mutation_p.Y118C	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	118						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CAGGCGCTTATATGCATCCAA	0.438												
CCDC52	152185	broad.mit.edu	37	3	113176104	113176104	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:113176104C>T	uc003eag.3	-	13	1827	c.1536G>A	c.(1534-1536)GTG>GTA	p.V512V	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.V408V	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	512					cell division|mitosis	centriole|spindle	protein binding				0						GAGGGTCTGGCACCTGAGACA	0.468												
UPK1B	7348	broad.mit.edu	37	3	118906708	118906708	+	Silent	SNP	C	C	T	rs137980561	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:118906708C>T	uc003ecc.2	+	3	245	c.156C>T	c.(154-156)AAC>AAT	p.N52N	UPK1B_uc011bix.1_Translation_Start_Site|UPK1B_uc003ecd.2_Silent_p.N52N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	52	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		CCACCGACAACGATGACATCT	0.532												
POLQ	10721	broad.mit.edu	37	3	121158854	121158854	+	Silent	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121158854A>C	uc003eee.3	-	27	7503	c.7374T>G	c.(7372-7374)CCT>CCG	p.P2458P	POLQ_uc003eed.2_Silent_p.P1630P	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2458					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTTTACGATAAGGGTTGTTGT	0.338								DNA_polymerases_(catalytic_subunits)				
POLQ	10721	broad.mit.edu	37	3	121229067	121229067	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121229067A>G	uc003eee.3	-	11	1764	c.1635T>C	c.(1633-1635)AGT>AGC	p.S545S		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	545	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTTGTGATGTACTTGCCACTC	0.338								DNA_polymerases_(catalytic_subunits)				
GOLGB1	2804	broad.mit.edu	37	3	121412910	121412910	+	Missense_Mutation	SNP	G	G	A	rs114710035	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:121412910G>A	uc003eei.3	-	13	6571	c.6445C>T	c.(6445-6447)CGC>TGC	p.R2149C	GOLGB1_uc010hrc.2_Missense_Mutation_p.R2154C|GOLGB1_uc003eej.3_Missense_Mutation_p.R2115C|GOLGB1_uc011bjm.1_Missense_Mutation_p.R2035C|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2113C	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2149	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCTCTGCGCAAAGCATCC	0.418												
PARP14	54625	broad.mit.edu	37	3	122419228	122419228	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122419228T>C	uc003efq.3	+	6	1886	c.1827T>C	c.(1825-1827)CTT>CTC	p.L609L	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.L326L|PARP14_uc003efs.1_Silent_p.L326L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AAGAAGTTCTTCATGGCAAGA	0.388												
HSPBAP1	79663	broad.mit.edu	37	3	122459517	122459517	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122459517T>C	uc003efu.1	-	8	1265	c.1142A>G	c.(1141-1143)AAA>AGA	p.K381R	HSPBAP1_uc003eft.1_Missense_Mutation_p.K92R	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	381						cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		TGCCTCCGGTTTGTCTGTTCC	0.507												
KALRN	8997	broad.mit.edu	37	3	124174097	124174097	+	Missense_Mutation	SNP	C	C	T	rs139468141		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:124174097C>T	uc003ehg.2	+	22	3747	c.3620C>T	c.(3619-3621)ACG>ATG	p.T1207M	KALRN_uc010hrv.1_Missense_Mutation_p.T1198M|KALRN_uc003ehf.1_Missense_Mutation_p.T1207M|KALRN_uc011bjy.1_Missense_Mutation_p.T1198M|KALRN_uc003ehh.1_Missense_Mutation_p.T553M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1207	Spectrin 5.				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						ATTCATGCCACGGAGATAAGG	0.493												
HEG1	57493	broad.mit.edu	37	3	124728615	124728615	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:124728615T>C	uc003ehs.3	-	8	3195	c.3127A>G	c.(3127-3129)ACT>GCT	p.T1043A	HEG1_uc011bke.1_Missense_Mutation_p.T1143A	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1043	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GATCCCTGAGTATTGTTGCAC	0.453												
PLXNA1	5361	broad.mit.edu	37	3	126724974	126724974	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126724974G>A	uc003ejg.2	+	7	1885	c.1881G>A	c.(1879-1881)AAG>AAA	p.K627K		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	650	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)		CAGGGAAGAAGTTTGCGTCTG	0.597												
PLXNA1	5361	broad.mit.edu	37	3	126731000	126731000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126731000C>T	uc003ejg.2	+	9	2247	c.2243C>T	c.(2242-2244)TCG>TTG	p.S748L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	771	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)		CAGAATTCCTCGGTGAGGTGG	0.662												
PLXNA1	5361	broad.mit.edu	37	3	126748300	126748300	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:126748300G>A	uc003ejg.2	+	26	4726	c.4722G>A	c.(4720-4722)TCG>TCA	p.S1574S	PLXNA1_uc003ejh.2_Silent_p.S242S	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1597	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)		ACGGGTCCTCGGTGGCACTGG	0.682												
MCM2	4171	broad.mit.edu	37	3	127338063	127338063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:127338063A>G	uc003ejp.2	+	13	2264	c.2207A>G	c.(2206-2208)AAC>AGC	p.N736S	MCM2_uc011bkm.1_Missense_Mutation_p.N606S|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.N689S	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	736					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CCGAAGCTCAACCAGATGGAC	0.587												
C3orf27	23434	broad.mit.edu	37	3	128292138	128292138	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:128292138G>A	uc003ekq.2	-	3	1402	c.435C>T	c.(433-435)TTC>TTT	p.F145F		NM_007354	NP_031380	O15544	GR6_HUMAN	putative GR6 protein	145											0				GBM - Glioblastoma multiforme(114;0.176)		gaaaatagctgaaagcaaagt	0.313												
IFT122	55764	broad.mit.edu	37	3	129197018	129197018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129197018G>A	uc003emm.2	+	12	1513	c.1307G>A	c.(1306-1308)TGC>TAC	p.C436Y	IFT122_uc003eml.2_Missense_Mutation_p.C487Y|IFT122_uc003emn.2_Missense_Mutation_p.C377Y|IFT122_uc003emo.2_Missense_Mutation_p.C325Y|IFT122_uc003emp.2_Missense_Mutation_p.C286Y|IFT122_uc010htc.2_Missense_Mutation_p.C428Y|IFT122_uc011bky.1_Missense_Mutation_p.C227Y|IFT122_uc003emq.2_Missense_Mutation_p.C276Y|IFT122_uc003emr.2_Missense_Mutation_p.C227Y|IFT122_uc011bla.1_Missense_Mutation_p.C227Y|IFT122_uc011bkx.1_Missense_Mutation_p.C276Y|IFT122_uc011bkz.1_RNA	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	436					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						AAGTTTGAGTGCAACCTCCTG	0.483												
RHO	6010	broad.mit.edu	37	3	129252455	129252455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129252455G>A	uc003emt.2	+	5	1036	c.941G>A	c.(940-942)CGG>CAG	p.R314Q		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	314	Cytoplasmic.				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TTCCAGTTCCGGAACTGCATG	0.622												
TMCC1	23023	broad.mit.edu	37	3	129389611	129389611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129389611G>A	uc003emz.3	-	5	1574	c.1073C>T	c.(1072-1074)ACC>ATC	p.T358I	TMCC1_uc003emy.3_Missense_Mutation_p.T34I|TMCC1_uc011blc.1_Missense_Mutation_p.T179I|TMCC1_uc010htg.2_Missense_Mutation_p.T244I	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	358						integral to membrane				skin(1)	1						TGCTGAATGGGTGGCCTGGGA	0.527												
TRH	7200	broad.mit.edu	37	3	129695892	129695892	+	Missense_Mutation	SNP	C	C	T	rs147002606	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:129695892C>T	uc003enc.2	+	3	1123	c.562C>T	c.(562-564)CCG>TCG	p.P188S		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	188					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						ACGCCAGCATCCGGGCAAGAG	0.532												
PIK3R4	30849	broad.mit.edu	37	3	130463621	130463621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130463621C>T	uc003enj.2	-	2	1023	c.442G>A	c.(442-444)GAC>AAC	p.D148N		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	148	Protein kinase.	Proton acceptor (By similarity).			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						GTCTTGATGTCCCCATGACGA	0.468												
ATP2C1	27032	broad.mit.edu	37	3	130694309	130694309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130694309G>A	uc003enl.2	+	18	1769	c.1547G>A	c.(1546-1548)CGC>CAC	p.R516H	ATP2C1_uc011blg.1_Missense_Mutation_p.R550H|ATP2C1_uc011blh.1_Missense_Mutation_p.R511H|ATP2C1_uc011bli.1_Missense_Mutation_p.R550H|ATP2C1_uc003enk.2_Missense_Mutation_p.R500H|ATP2C1_uc003enm.2_Missense_Mutation_p.R516H|ATP2C1_uc003enn.2_Missense_Mutation_p.R500H|ATP2C1_uc003eno.2_Missense_Mutation_p.R516H|ATP2C1_uc003enp.2_Missense_Mutation_p.R516H|ATP2C1_uc003enq.2_Missense_Mutation_p.R516H|ATP2C1_uc003enr.2_Missense_Mutation_p.R516H|ATP2C1_uc003ens.2_Missense_Mutation_p.R516H|ATP2C1_uc003ent.2_Missense_Mutation_p.R516H|ATP2C1_uc003enu.2_Missense_Mutation_p.R194H	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	516	Cytoplasmic (By similarity).			R -> H (in Ref. 8; CAA09425).	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAGAAGGCACGCATGGGCTCA	0.468									Hailey-Hailey_disease			
ASTE1	28990	broad.mit.edu	37	3	130735120	130735120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130735120G>A	uc003env.1	-	5	2019	c.1577C>T	c.(1576-1578)GCG>GTG	p.A526V	ATP2C1_uc011blh.1_3'UTR|ATP2C1_uc011bli.1_3'UTR|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_3'UTR|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_3'UTR|ATP2C1_uc003ent.2_3'UTR|ASTE1_uc010htm.1_Missense_Mutation_p.A526V|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	526					DNA repair		nuclease activity				0						CCGTGTCTGCGCCTTCACTCT	0.488												
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:131404727G>A	uc003eok.2	-	6	1018	c.583C>T	c.(583-585)CGA>TGA	p.R195*	CPNE4_uc011blq.1_Nonsense_Mutation_p.R213*|CPNE4_uc003eol.2_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.2_Nonsense_Mutation_p.R195*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	195	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACCTCAGTTCGGTGCACCAGC	0.378												
DNAJC13	23317	broad.mit.edu	37	3	132199275	132199275	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:132199275T>C	uc003eor.2	+	26	2900	c.2835T>C	c.(2833-2835)CTT>CTC	p.L945L		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	945							heat shock protein binding			ovary(1)|breast(1)	2						TGCTTACCCTTGCACATCTCC	0.353												
TF	7018	broad.mit.edu	37	3	133467393	133467393	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:133467393A>G	uc003epu.1	+	7	1909	c.181A>G	c.(181-183)AAA>GAA	p.K61E	TF_uc011bls.1_Missense_Mutation_p.K61E|TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.K61E	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	61	Transferrin-like 1.				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)	TTGTGTGAAGAAAGCCTCCTA	0.502												
COPB2	9276	broad.mit.edu	37	3	139094430	139094430	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:139094430T>C	uc003etf.3	-	6	661	c.531A>G	c.(529-531)CCA>CCG	p.P177P	COPB2_uc011bmv.1_Silent_p.P148P|COPB2_uc010hui.2_Silent_p.P148P|COPB2_uc011bmw.1_Silent_p.P177P	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	177	WD 4.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						AAGTGAAGTTTGGTGACGAAG	0.478												
SPSB4	92369	broad.mit.edu	37	3	140785515	140785515	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:140785515T>C	uc003ett.2	+	2	823	c.569T>C	c.(568-570)TTC>TCC	p.F190S	SPSB4_uc010hum.2_Missense_Mutation_p.F190S	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	190	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						ACACTCAGCTTCATCGTGGAT	0.657												
XRN1	54464	broad.mit.edu	37	3	142102233	142102233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142102233C>T	uc003eus.2	-	22	2592	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	XRN1_uc010huu.2_Missense_Mutation_p.R308H|XRN1_uc003eut.2_Missense_Mutation_p.R842H|XRN1_uc003euu.2_Missense_Mutation_p.R842H|XRN1_uc003euv.1_Missense_Mutation_p.R703H	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	842					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						ATTGGAGAAACGGGAGTCGAA	0.358												
PCOLCE2	26577	broad.mit.edu	37	3	142567212	142567212	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142567212T>C	uc003evd.2	-	3	491	c.295A>G	c.(295-297)AAT>GAT	p.N99D		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	99	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						CGCTGGCCATTGGCATGGCCA	0.517												
PAQR9	344838	broad.mit.edu	37	3	142681070	142681070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142681070C>T	uc003evg.2	-	1	1109	c.1109G>A	c.(1108-1110)AGC>AAC	p.S370N	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	370	Extracellular (Potential).					integral to membrane	receptor activity				0						GAATTCGGAGCTGTTTAGGAA	0.537												
PAQR9	344838	broad.mit.edu	37	3	142681213	142681213	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:142681213G>A	uc003evg.2	-	1	966	c.966C>T	c.(964-966)ATC>ATT	p.I322I	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	322	Helical; (Potential).					integral to membrane	receptor activity				0						CCTGGTCGTAGATGCTGAGGA	0.592												
PLSCR5	389158	broad.mit.edu	37	3	146322995	146322995	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:146322995G>T	uc003ewb.2	-	1	1009	c.5C>A	c.(4-6)GCC>GAC	p.A2D	PLSCR5_uc010hvb.2_Missense_Mutation_p.A2D|PLSCR5_uc010hvc.2_Missense_Mutation_p.A2D	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	2											0						ACCTTTAGAGGCCATGAAGAT	0.358												
HPS3	84343	broad.mit.edu	37	3	148880506	148880506	+	Silent	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:148880506T>A	uc003ewu.1	+	13	2462	c.2322T>A	c.(2320-2322)ATT>ATA	p.I774I	HPS3_uc011bnq.1_Silent_p.I609I|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	774						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGATACAATTCCTCAGCTCT	0.418									Hermansky-Pudlak_syndrome			
MED12L	116931	broad.mit.edu	37	3	151105758	151105758	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:151105758A>C	uc003eyp.2	+	35	5182	c.5144A>C	c.(5143-5145)CAC>CCC	p.H1715P	MED12L_uc011bnz.1_Missense_Mutation_p.H1575P|MED12L_uc003eyy.1_Missense_Mutation_p.H878P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1715					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATCACACACACCCCATGCCC	0.577												
IGSF10	285313	broad.mit.edu	37	3	151161483	151161483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:151161483C>T	uc011bod.1	-	5	5252	c.5252G>A	c.(5251-5253)CGT>CAT	p.R1751H	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1751	Ig-like C2-type 4.				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)			CTCTTTGGTACGTCTCTCCAG	0.507												
DHX36	170506	broad.mit.edu	37	3	154002694	154002694	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:154002694A>G	uc003ezy.3	-	18	2195	c.2114T>C	c.(2113-2115)ATG>ACG	p.M705T	DHX36_uc010hvq.2_Missense_Mutation_p.M691T|DHX36_uc003ezz.3_Missense_Mutation_p.M705T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	705						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)			AAAAAGAATCATTTTTCCAAT	0.418												
PLCH1	23007	broad.mit.edu	37	3	155199765	155199765	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155199765G>A	uc011bok.1	-	23	4351	c.4074C>T	c.(4072-4074)AGC>AGT	p.S1358S	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.S1320S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1358					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCCACAAGGCTGCTCTCCC	0.458												
PLCH1	23007	broad.mit.edu	37	3	155200765	155200765	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155200765A>G	uc011bok.1	-	23	3351	c.3074T>C	c.(3073-3075)TTA>TCA	p.L1025S	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.L987S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1025					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGAGGATGATAACTTTTTGTT	0.418												
SLC33A1	9197	broad.mit.edu	37	3	155571075	155571075	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:155571075C>T	uc003fan.3	-	1	1093	c.712G>A	c.(712-714)GCC>ACC	p.A238T	SLC33A1_uc003fao.1_Missense_Mutation_p.A238T	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	238	Helical; (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAAAGTCGGCAGATTCAAGG	0.408												
CCNL1	57018	broad.mit.edu	37	3	156867305	156867305	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:156867305T>C	uc003fbf.2	-	9	1701	c.1102A>G	c.(1102-1104)AGA>GGA	p.R368G	CCNL1_uc003fbd.1_Missense_Mutation_p.R368G|CCNL1_uc003fbe.2_Missense_Mutation_p.R162G|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.R213G	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	368					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GCCTGTTGTCTATCCTCAGGT	0.363												
SCHIP1	29970	broad.mit.edu	37	3	159605501	159605501	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:159605501A>G	uc003fcs.1	+	5	1067	c.1001A>G	c.(1000-1002)AAA>AGA	p.K334R	SCHIP1_uc003fcq.1_Missense_Mutation_p.K410R|SCHIP1_uc003fcr.1_Missense_Mutation_p.K323R|SCHIP1_uc003fct.1_Missense_Mutation_p.K321R|SCHIP1_uc010hvz.1_Missense_Mutation_p.K294R|SCHIP1_uc003fcu.1_Missense_Mutation_p.K91R|SCHIP1_uc003fcv.1_Missense_Mutation_p.K107R	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	334						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGCAGAGCAAACAGAGTTCT	0.463												
SI	6476	broad.mit.edu	37	3	164727162	164727162	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:164727162A>C	uc003fei.2	-	35	4146	c.4084T>G	c.(4084-4086)TTC>GTC	p.F1362V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1362	Sucrase.|Lumenal.				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)	AAATCTGGGAAAGCTACATGA	0.378										HNSCC(35;0.089)		
SLITRK3	22865	broad.mit.edu	37	3	164907875	164907875	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:164907875T>C	uc003fej.3	-	2	1188	c.744A>G	c.(742-744)GAA>GAG	p.E248E	SLITRK3_uc003fek.2_Silent_p.E248E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	248	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AAGGAATGCGTTCCAGCCAAC	0.478										HNSCC(40;0.11)		
MYNN	55892	broad.mit.edu	37	3	169492087	169492087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169492087C>T	uc003fft.2	+	2	433	c.4C>T	c.(4-6)CAG>TAG	p.Q2*	MYNN_uc011bpm.1_5'UTR|MYNN_uc003ffu.2_Nonsense_Mutation_p.Q2*|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Nonsense_Mutation_p.Q2*	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATCAAAATGCAGTATTCGCA	0.408												
LRRIQ4	344657	broad.mit.edu	37	3	169546691	169546691	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169546691T>C	uc003fgb.2	+	2	1165	c.1165T>C	c.(1165-1167)TAT>CAT	p.Y389H		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	389	LRR 16.										0						CAAACTTACCTATGTGCCAGA	0.433												
PLD1	5337	broad.mit.edu	37	3	171338199	171338199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171338199G>A	uc003fhs.2	-	24	2821	c.2705C>T	c.(2704-2706)GCT>GTT	p.A902V	PLD1_uc003fht.2_Missense_Mutation_p.A864V|PLD1_uc003fhu.3_Missense_Mutation_p.A196V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	902	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTTATCATCAGCAATTAACAA	0.368												
PLD1	5337	broad.mit.edu	37	3	171392379	171392379	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171392379G>T	uc003fhs.2	-	19	2256	c.2140C>A	c.(2140-2142)CTT>ATT	p.L714I	PLD1_uc003fht.2_Missense_Mutation_p.L676I|PLD1_uc003fhu.3_Missense_Mutation_p.L8I|PLD1_uc003fhv.1_Missense_Mutation_p.L39I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	714	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATAAGAAAGGGACCGATAT	0.333												
FNDC3B	64778	broad.mit.edu	37	3	171965350	171965350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:171965350C>T	uc003fhy.2	+	5	464	c.292C>T	c.(292-294)CGG>TGG	p.R98W	FNDC3B_uc003fhz.3_Missense_Mutation_p.R98W|FNDC3B_uc003fia.2_Missense_Mutation_p.R29W	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	98						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGGAGTCCGCCGGGTGGTGGT	0.458												
FNDC3B	64778	broad.mit.edu	37	3	172003767	172003767	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:172003767A>G	uc003fhy.2	+	7	1014	c.842A>G	c.(841-843)AAA>AGA	p.K281R	FNDC3B_uc003fhz.3_Missense_Mutation_p.K281R|FNDC3B_uc003fia.2_Missense_Mutation_p.K212R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	281	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGAATAGAGAAACCACAGGTA	0.348												
NLGN1	22871	broad.mit.edu	37	3	173996754	173996754	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:173996754T>C	uc003fio.1	+	6	1386	c.963T>C	c.(961-963)GGT>GGC	p.G321G	NLGN1_uc010hww.1_Silent_p.G361G|NLGN1_uc003fip.1_Silent_p.G321G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	338	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			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)			CAAAAGTTGGTTGCAATGTTT	0.413												
NLGN1	22871	broad.mit.edu	37	3	173998565	173998565	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:173998565A>G	uc003fio.1	+	7	2367	c.1944A>G	c.(1942-1944)TCA>TCG	p.S648S	NLGN1_uc003fip.1_Silent_p.S648S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	665	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			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)			CTGTCACGTCAGCCTTTCCCA	0.433												
NAALADL2	254827	broad.mit.edu	37	3	174951986	174951986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:174951986A>G	uc003fit.2	+	3	898	c.811A>G	c.(811-813)ACT>GCT	p.T271A	NAALADL2_uc003fiu.1_Missense_Mutation_p.T264A|NAALADL2_uc010hwy.1_Missense_Mutation_p.T93A	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	271	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)		TGCCAAAGGAACTCTCAAGGT	0.398												
NAALADL2	254827	broad.mit.edu	37	3	174974236	174974236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:174974236G>A	uc003fit.2	+	4	943	c.856G>A	c.(856-858)GAT>AAT	p.D286N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D279N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D108N|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	286	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)		AATGGCAGATGATTTAAAAAG	0.363												
NAALADL2	254827	broad.mit.edu	37	3	175042056	175042056	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:175042056C>A	uc003fit.2	+	5	1119	c.1032C>A	c.(1030-1032)ACC>ACA	p.T344T	NAALADL2_uc003fiu.1_Silent_p.T337T|NAALADL2_uc010hwy.1_Silent_p.T166T|NAALADL2_uc010hwz.1_Intron	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	344	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)		GCCATGATACCTTCATGGTGT	0.423												
PIK3CA	5290	broad.mit.edu	37	3	178917659	178917659	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:178917659A>G	uc003fjk.2	+	3	691	c.534A>G	c.(532-534)CCA>CCG	p.P178P		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	178	PI3K-RBD.				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			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)			CAGAATTGCCAAAGCACATAT	0.328		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PEX5L	51555	broad.mit.edu	37	3	179519754	179519754	+	Silent	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:179519754A>T	uc003fki.1	-	15	1873	c.1743T>A	c.(1741-1743)GTT>GTA	p.V581V	PEX5L_uc011bqd.1_Silent_p.V538V|PEX5L_uc011bqe.1_Silent_p.V389V|PEX5L_uc011bqf.1_Silent_p.V473V|PEX5L_uc003fkj.1_Silent_p.V546V|PEX5L_uc010hxd.1_Silent_p.V579V|PEX5L_uc011bqg.1_Silent_p.V557V|PEX5L_uc011bqh.1_Silent_p.V522V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	581					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGGATGAGGAACTTGCTGCT	0.463												
DNAJC19	131118	broad.mit.edu	37	3	180703754	180703754	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:180703754A>G	uc003fkt.2	-	5	380	c.240T>C	c.(238-240)GAT>GAC	p.D80D	DNAJC19_uc003fku.2_RNA	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	DnaJ homolog, subfamily C, member 19	80	J.|Mitochondrial matrix (Potential).				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding				0	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			GTCGATGAGCATCTCTTATTT	0.333												
KLHL6	89857	broad.mit.edu	37	3	183209880	183209880	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183209880G>A	uc003flr.2	-	7	1759	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	567	Kelch 6.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCTTCTCGTCCCGCCCGC	0.672												
YEATS2	55689	broad.mit.edu	37	3	183521069	183521069	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183521069A>G	uc003fly.2	+	26	3723	c.3528A>G	c.(3526-3528)GCA>GCG	p.A1176A		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1176					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTTTCTGCAAAGTCTGTGG	0.507												
ABCC5	10057	broad.mit.edu	37	3	183699621	183699621	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183699621G>A	uc003fmg.2	-	8	1206	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C	ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Silent_p.C347C	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	347	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGCGGCCACGCATTTTCTCC	0.413												
DVL3	1857	broad.mit.edu	37	3	183881465	183881465	+	Missense_Mutation	SNP	C	C	T	rs143411607		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:183881465C>T	uc003fms.2	+	2	322	c.182C>T	c.(181-183)TCG>TTG	p.S61L	DVL3_uc011bqw.1_Missense_Mutation_p.S61L|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	61	DIX.				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)			GAGGAGATCTCGGATGACAAT	0.567												
PSMD2	5708	broad.mit.edu	37	3	184019395	184019395	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184019395G>A	uc003fnn.1	+	4	461	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	PSMD2_uc011brj.1_5'UTR|PSMD2_uc011brk.1_Missense_Mutation_p.R13Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTCAAGTATCGGCTAGTGGGC	0.493												
PSMD2	5708	broad.mit.edu	37	3	184019718	184019718	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184019718T>C	uc003fnn.1	+	5	596	c.563T>C	c.(562-564)GTG>GCG	p.V188A	PSMD2_uc011brj.1_Missense_Mutation_p.V29A|PSMD2_uc011brk.1_Missense_Mutation_p.V58A	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTCACTCTGGTGAAGGAAATC	0.542												
VPS8	23355	broad.mit.edu	37	3	184769776	184769776	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:184769776A>G	uc003fpb.1	+	47	4415	c.4244A>G	c.(4243-4245)CAG>CGG	p.Q1415R	VPS8_uc010hyd.1_Missense_Mutation_p.Q1325R|VPS8_uc010hye.1_Missense_Mutation_p.Q844R	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1417							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGAACTTCCAGCTGCAGCTC	0.567												
TMEM41A	90407	broad.mit.edu	37	3	185214708	185214708	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:185214708A>G	uc003fpj.2	-	2	277	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	TMEM41A_uc003fpk.2_Missense_Mutation_p.Y61H|TMEM41A_uc003fpl.2_Missense_Mutation_p.Y61H	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	transmembrane protein 41A precursor	61						integral to membrane					0	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCCTTCCGGTACTCTCGAAGG	0.587												
DGKG	1608	broad.mit.edu	37	3	185867951	185867951	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:185867951C>T	uc003fqa.2	-	25	2841	c.2304G>A	c.(2302-2304)GCG>GCA	p.A768A	DGKG_uc003fqb.2_Silent_p.A729A|DGKG_uc003fqc.2_Silent_p.A743A|DGKG_uc011brx.1_Silent_p.A709A	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	768					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			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCATCATGGGCGCTTGGTTCT	0.458												
DNAJB11	51726	broad.mit.edu	37	3	186301745	186301745	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186301745A>G	uc003fqi.2	+	8	1052	c.832A>G	c.(832-834)ACT>GCT	p.T278A		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	278					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GATGGATATTACTCACTTGGA	0.383												
KNG1	3827	broad.mit.edu	37	3	186459742	186459742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186459742G>A	uc011bsa.1	+	10	1769	c.1557G>A	c.(1555-1557)TGG>TGA	p.W519*	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	519					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACAATGGTTGGAAAACAGAGC	0.463												
LEPREL1	55214	broad.mit.edu	37	3	189711973	189711973	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:189711973T>C	uc011bsk.1	-	3	1121	c.733A>G	c.(733-735)ACA>GCA	p.T245A	LEPREL1_uc003fsg.2_Missense_Mutation_p.T64A	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	245					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGGCATTCTGTATCTTCAACG	0.418												
GP5	2814	broad.mit.edu	37	3	194117602	194117602	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194117602C>T	uc003ftv.1	-	2	1441	c.1410G>A	c.(1408-1410)GCG>GCA	p.A470A		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	470	Extracellular (Potential).|LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		ccgggcACTCCGCGTCACCCC	0.612												
LSG1	55341	broad.mit.edu	37	3	194369411	194369411	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194369411T>C	uc003fui.2	-	11	1857	c.1542A>G	c.(1540-1542)GGA>GGG	p.G514G		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	514					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACAACTTACATCCATAAGCTG	0.368												
LSG1	55341	broad.mit.edu	37	3	194371733	194371733	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194371733G>A	uc003fui.2	-	10	1611	c.1296C>T	c.(1294-1296)GGC>GGT	p.G432G		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	432	G.				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACAGGCAGAGGCCAGGCTCCA	0.493												
FAM43A	131583	broad.mit.edu	37	3	194407863	194407863	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194407863G>A	uc003fuj.2	+	1	1242	c.308G>A	c.(307-309)GGC>GAC	p.G103D		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	103										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		AGCGAGGCGGGCCGTCAGGGC	0.682												
C3orf21	152002	broad.mit.edu	37	3	194790661	194790661	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:194790661T>C	uc003fum.3	-	4	1073	c.965A>G	c.(964-966)TAC>TGC	p.Y322C	C3orf21_uc003ful.2_Missense_Mutation_p.Y119C|C3orf21_uc003fuk.2_Missense_Mutation_p.Y116C	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	322						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		GCGGAAGTGGTACTTGTCGGC	0.642												
TFRC	7037	broad.mit.edu	37	3	195798336	195798336	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:195798336G>A	uc003fvz.3	-	6	901	c.618C>T	c.(616-618)AAC>AAT	p.N206N	TFRC_uc003fwa.3_Silent_p.N206N|TFRC_uc010hzy.2_Silent_p.N125N|TFRC_uc011btr.1_Translation_Start_Site	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	206	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTCTACCGTTCTTATCAA	0.388			T	BCL6	NHL							
PIGG	54872	broad.mit.edu	37	4	520905	520905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:520905G>A	uc003gak.3	+	10	2283	c.2147G>A	c.(2146-2148)TGC>TAC	p.C716Y	PIGG_uc003gaj.3_Missense_Mutation_p.C708Y|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.C583Y|PIGG_uc003gal.3_Missense_Mutation_p.C627Y	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	716	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAGAGGGGGTGCTCCCCTGTG	0.642												
PDE6B	5158	broad.mit.edu	37	4	656356	656356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:656356G>A	uc003gap.2	+	14	1834	c.1781G>A	c.(1780-1782)GGC>GAC	p.G594D	PDE6B_uc003gao.3_Missense_Mutation_p.G594D|PDE6B_uc011buy.1_Missense_Mutation_p.G315D|PDE6B_uc011buz.1_Missense_Mutation_p.G26D	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	594					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTGACAGCCGGCCTGTGCCAT	0.592												
PDE6B	5158	broad.mit.edu	37	4	657603	657603	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:657603C>T	uc003gap.2	+	16	2018	c.1965C>T	c.(1963-1965)CAC>CAT	p.H655H	PDE6B_uc003gao.3_Silent_p.H655H|PDE6B_uc011buy.1_Silent_p.H376H|PDE6B_uc011buz.1_Silent_p.H87H	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	655					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						AGCACGAGCACGTGATCCACC	0.682												
MFSD7	84179	broad.mit.edu	37	4	678549	678549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:678549C>T	uc003gay.2	-	5	739	c.682G>A	c.(682-684)GCC>ACC	p.A228T	MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Missense_Mutation_p.A228T|MFSD7_uc003gaz.2_Missense_Mutation_p.A109T|MFSD7_uc003gba.2_Missense_Mutation_p.A131T|MFSD7_uc003gbb.1_Missense_Mutation_p.A164T	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	228					transmembrane transport	integral to membrane					0						GTGGAGCTGGCAGCCCCGGCA	0.662												
IDUA	3425	broad.mit.edu	37	4	996134	996134	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:996134T>C	uc003gby.2	+	8	1138	c.1050T>C	c.(1048-1050)AAT>AAC	p.N350N	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.N372N	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	350			N -> I (in MPS1S).|Missing (in MPS1H).		disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCAACGACAATGCCTTCCTGA	0.667												
CTBP1	1487	broad.mit.edu	37	4	1222118	1222118	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:1222118G>A	uc003gcv.1	-	3	374	c.209C>T	c.(208-210)GCT>GTT	p.A70V	CTBP1_uc003gct.1_Missense_Mutation_p.A51V|CTBP1_uc003gcu.1_Missense_Mutation_p.A59V	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	70	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCCCACAGCCTCGTTCAG	0.622												
KIAA1530	57654	broad.mit.edu	37	4	1348909	1348909	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:1348909T>A	uc003gde.3	+	7	1499	c.1052T>A	c.(1051-1053)TTC>TAC	p.F351Y		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	351											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			TCGCAGCGCTTCACCCGCGTC	0.627												
HTT	3064	broad.mit.edu	37	4	3234904	3234904	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3234904G>A	uc011bvq.1	+	62	8431	c.8286G>A	c.(8284-8286)GCG>GCA	p.A2762A		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2760					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCCGTGGCGGAGCCTGTCA	0.677												
RGS12	6002	broad.mit.edu	37	4	3318646	3318646	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3318646A>C	uc003ggw.2	+	2	1653	c.749A>C	c.(748-750)GAC>GCC	p.D250A	RGS12_uc003ggu.2_Missense_Mutation_p.D250A|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.D250A|RGS12_uc003ggx.1_Missense_Mutation_p.D250A	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	250	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGGAGTCCGACAGCTTGCAA	0.552												
RGS12	6002	broad.mit.edu	37	4	3424186	3424186	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3424186C>T	uc003ggw.2	+	11	3826	c.2922C>T	c.(2920-2922)TGC>TGT	p.C974C	RGS12_uc003ggv.2_Silent_p.C974C|RGS12_uc003ggy.1_Silent_p.C372C|RGS12_uc003ggz.2_Silent_p.C326C|RGS12_uc010icu.1_Silent_p.C173C|RGS12_uc011bvs.1_Silent_p.C316C|RGS12_uc003gha.2_Silent_p.C316C|RGS12_uc010icv.2_Silent_p.C173C|RGS12_uc003ghb.2_Silent_p.C173C	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	974	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGACATCCTGCGTGGTGGCTG	0.632												
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3430399A>G	uc003ggw.2	+	16	4430	c.3526A>G	c.(3526-3528)AAA>GAA	p.K1176E	RGS12_uc003ggv.2_Missense_Mutation_p.K1176E|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.2_Missense_Mutation_p.K528E|RGS12_uc011bvs.1_Intron|RGS12_uc003gha.2_Missense_Mutation_p.K518E|RGS12_uc010icv.2_Missense_Mutation_p.K375E	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1176						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328												
ADRA2C	152	broad.mit.edu	37	4	3768793	3768793	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3768793A>G	uc003ghm.2	+	1	498	c.460A>G	c.(460-462)ACG>GCG	p.T154A	ADRA2C_uc010icx.2_Missense_Mutation_p.T154A	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	154	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTCGGTGACGCAGGCCGT	0.642												
ADRA2C	152	broad.mit.edu	37	4	3769594	3769594	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:3769594T>C	uc003ghm.2	+	1	1299	c.1261T>C	c.(1261-1263)TTC>CTC	p.F421L	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	421	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCTCTTCAAGTTCTTCTTCTG	0.582												
OTOP1	133060	broad.mit.edu	37	4	4199372	4199372	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:4199372T>C	uc003ghp.1	-	5	1219	c.1189A>G	c.(1189-1191)ACT>GCT	p.T397A		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	397	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGAGGCAGTGCCCACCAAG	0.592												
EVC	2121	broad.mit.edu	37	4	5721059	5721059	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:5721059A>G	uc003gil.1	+	2	443	c.259A>G	c.(259-261)AAG>GAG	p.K87E	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	87					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AAGGAGGAGGAAGAGAGAAGT	0.502												
WFS1	7466	broad.mit.edu	37	4	6293722	6293722	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:6293722A>C	uc003giy.2	+	6	876	c.710A>C	c.(709-711)GAG>GCG	p.E237A	WFS1_uc003gix.2_Missense_Mutation_p.E237A|WFS1_uc003giz.2_Missense_Mutation_p.E55A	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	237					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GTCAGCAGCGAGTGTGAGTGC	0.672												
SLC2A9	56606	broad.mit.edu	37	4	9836622	9836622	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:9836622C>T	uc003gmc.2	-	11	1363	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	SLC2A9_uc003gmd.2_Silent_p.P405P	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	434	Helical; Name=10; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						TCAAGATGAACGGGATGCCAC	0.542												
NKX3-2	579	broad.mit.edu	37	4	13545707	13545707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:13545707C>T	uc003gmx.2	-	1	408	c.332G>A	c.(331-333)CGG>CAG	p.R111Q		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	111					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						gctggccccccgcgcgtccgc	0.537												
BOD1L	259282	broad.mit.edu	37	4	13602222	13602222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:13602222G>A	uc003gmz.1	-	10	6419	c.6302C>T	c.(6301-6303)ACT>ATT	p.T2101I	BOD1L_uc010idr.1_Missense_Mutation_p.T1438I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2101							DNA binding			ovary(5)|breast(1)	6						ATTTTCTTCAGTTCTCAGAGC	0.473												
TAPT1	202018	broad.mit.edu	37	4	16165119	16165119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:16165119G>A	uc010ied.1	-	14	1597	c.1516C>T	c.(1516-1518)CAA>TAA	p.Q506*	TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Nonsense_Mutation_p.Q395*	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation	506						integral to membrane	growth hormone-releasing hormone receptor activity				0						TGAATAGGTTGTTTGGTGATG	0.353												
GPR125	166647	broad.mit.edu	37	4	22415356	22415356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:22415356C>T	uc003gqm.1	-	13	2156	c.1891G>A	c.(1891-1893)GAC>AAC	p.D631N	GPR125_uc010ieo.1_Missense_Mutation_p.D487N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	631	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TAAAGAGAGTCATCAGTTGGT	0.388												
GPR125	166647	broad.mit.edu	37	4	22422524	22422524	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:22422524C>T	uc003gqm.1	-	12	2059	c.1794G>A	c.(1792-1794)TCG>TCA	p.S598S	GPR125_uc010ieo.1_Silent_p.S472S|GPR125_uc003gqn.1_Silent_p.S372S|GPR125_uc003gqo.2_Silent_p.S598S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	598	Extracellular (Potential).|LRR 5.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GTGCCAGACTCGAAAATGTAT	0.393												
PPARGC1A	10891	broad.mit.edu	37	4	23815459	23815459	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:23815459A>G	uc003gqs.2	-	8	1767	c.1647T>C	c.(1645-1647)GAT>GAC	p.D549D	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	549					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GTGACACAGAATCTCTACATG	0.443												
RBPJ	3516	broad.mit.edu	37	4	26426078	26426078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:26426078G>A	uc003grx.1	+	7	886	c.650G>A	c.(649-651)TGG>TAG	p.W217*	RBPJ_uc003gry.1_Nonsense_Mutation_p.W202*|RBPJ_uc003grz.1_Nonsense_Mutation_p.W217*|RBPJ_uc011bxt.1_Nonsense_Mutation_p.W217*|RBPJ_uc003gsa.1_Nonsense_Mutation_p.W203*|RBPJ_uc003gsb.1_Nonsense_Mutation_p.W204*|RBPJ_uc003gsc.1_Nonsense_Mutation_p.W203*	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	217					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)				TCACAGCAGTGGGGAGCCTTT	0.363												
PCDH7	5099	broad.mit.edu	37	4	30723194	30723194	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:30723194C>T	uc003gsk.1	+	1	1158	c.150C>T	c.(148-150)AAC>AAT	p.N50N	PCDH7_uc011bxw.1_Silent_p.N50N|PCDH7_uc011bxx.1_Silent_p.N50N	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	50	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GCATCGGCAACGTGGCTTCAG	0.677												
TBC1D1	23216	broad.mit.edu	37	4	38016291	38016291	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38016291C>T	uc003gtb.2	+	3	922	c.579C>T	c.(577-579)ATC>ATT	p.I193I	TBC1D1_uc011byd.1_Silent_p.I193I|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.I64I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	193						nucleus	Rab GTPase activator activity			ovary(1)	1						CGGCCCTGATCGACGAGTGCA	0.672												
TBC1D1	23216	broad.mit.edu	37	4	38051444	38051444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38051444G>A	uc003gtb.2	+	11	2178	c.1835G>A	c.(1834-1836)CGG>CAG	p.R612Q	TBC1D1_uc011byd.1_Missense_Mutation_p.R612Q|TBC1D1_uc010ifd.2_Missense_Mutation_p.R359Q|TBC1D1_uc011byf.1_Missense_Mutation_p.R483Q	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	612						nucleus	Rab GTPase activator activity			ovary(1)	1						CAACCTGCCCGGGGGTCCCCG	0.547												
TBC1D1	23216	broad.mit.edu	37	4	38119751	38119751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38119751C>T	uc003gtb.2	+	17	3243	c.2900C>T	c.(2899-2901)GCC>GTC	p.A967V	TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Missense_Mutation_p.A754V|TBC1D1_uc003gtd.2_5'Flank	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	967	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			ovary(1)	1						CTCTACGCTGCCCCCTGGTTC	0.537												
RPL9	6133	broad.mit.edu	37	4	39458157	39458157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39458157C>T	uc003gub.2	-	4	408	c.260G>A	c.(259-261)GGC>GAC	p.G87D	RPL9_uc003guc.2_Missense_Mutation_p.G87D|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.G87D|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1						GTAACGGAAGCCCTATGTTAA	0.338												
LIAS	11019	broad.mit.edu	37	4	39472857	39472857	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39472857A>G	uc003guf.2	+	9	958	c.885A>G	c.(883-885)GCA>GCG	p.A295A	LIAS_uc003gug.2_Silent_p.A295A|LIAS_uc003guh.2_Silent_p.A252A	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	295					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TTCCTACAGCACTTCGTGAGG	0.338												
UGDH	7358	broad.mit.edu	37	4	39512403	39512403	+	Missense_Mutation	SNP	G	G	A	rs140504706	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:39512403G>A	uc003guk.1	-	4	659	c.343C>T	c.(343-345)CGC>TGC	p.R115C	UGDH_uc011byp.1_Missense_Mutation_p.R18C|UGDH_uc003gul.1_Intron	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	115					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)	TGCACAATGCGTCTAGCACAA	0.433												
N4BP2	55728	broad.mit.edu	37	4	40104430	40104430	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:40104430A>G	uc003guy.3	+	4	1303	c.965A>G	c.(964-966)GAA>GGA	p.E322G	N4BP2_uc010ifq.2_Missense_Mutation_p.E242G|N4BP2_uc010ifr.2_Missense_Mutation_p.E242G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	322						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CTACCTTCCGAAGGGTTCAAC	0.493												
CHRNA9	55584	broad.mit.edu	37	4	40356064	40356064	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:40356064A>G	uc003gva.1	+	5	983	c.967A>G	c.(967-969)ATC>GTC	p.I323V		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	323	Helical; (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	GGTGATGAATATCCACTTCTG	0.502												
GABRG1	2565	broad.mit.edu	37	4	46053588	46053588	+	Silent	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:46053588A>C	uc003gxb.2	-	8	1136	c.984T>G	c.(982-984)TCT>TCG	p.S328S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	328					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTCACATAAGAAACCTTAG	0.373												
ATP10D	57205	broad.mit.edu	37	4	47556800	47556800	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:47556800C>T	uc003gxk.1	+	11	1857	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	565	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	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(2)|pancreas(1)	3						GATTACACCTCGGCTCTTTAT	0.383												
TXK	7294	broad.mit.edu	37	4	48115286	48115286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48115286G>A	uc003gxx.3	-	3	198	c.112C>T	c.(112-114)CTT>TTT	p.L38F	TXK_uc003gxy.1_Missense_Mutation_p.L38F	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	38						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						TTTTCTGGAAGCTCTTCATCT	0.393												
TEC	7006	broad.mit.edu	37	4	48148398	48148398	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48148398C>T	uc003gxz.2	-	12	1116	c.1025G>A	c.(1024-1026)CGG>CAG	p.R342Q		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	342	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						AACTGGGTACCGAAGCCTGGT	0.413												
FRYL	285527	broad.mit.edu	37	4	48501614	48501614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:48501614G>A	uc003gyh.1	-	64	9472	c.8867C>T	c.(8866-8868)ACG>ATG	p.T2956M	FRYL_uc003gye.1_Missense_Mutation_p.T138M|FRYL_uc003gyf.1_Missense_Mutation_p.T346M|FRYL_uc003gyg.1_Missense_Mutation_p.T1646M	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2956					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CTGGCCCAGCGTCTGATGATG	0.423												
LNX1	84708	broad.mit.edu	37	4	54327149	54327149	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:54327149G>A	uc003hag.3	-	11	2368	c.2112C>T	c.(2110-2112)TGC>TGT	p.C704C	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.C608C|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	704	PDZ 4.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTCTTGCCAAGCAAGCATGTA	0.333												
KIT	3815	broad.mit.edu	37	4	55592140	55592140	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55592140G>A	uc010igr.2	+	9	1551	c.1464G>A	c.(1462-1464)ACG>ACA	p.T488T	KIT_uc010igs.2_Silent_p.T488T|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.1_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	488	Extracellular (Potential).|Ig-like C2-type 5.				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)	ACAATGGCACGGTTGAATGTA	0.398		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			
KIT	3815	broad.mit.edu	37	4	55593613	55593613	+	Missense_Mutation	SNP	T	T	C	rs67104871		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55593613T>C	uc010igr.2	+	11	1766	c.1679T>C	c.(1678-1680)GTT>GCT	p.V560A	KIT_uc010igs.2_Missense_Mutation_p.V556A|KIT_uc010igt.1_Missense_Mutation_p.V9A	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	560	Cytoplasmic (Potential).		Missing (in GIST; somatic mutation).		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	p.V560D(113)|p.V560del(44)|p.W557_E561del(36)|p.V560G(23)|p.V560_L576del(22)|p.V560E(18)|p.K558_E562del(16)|p.V559_E561del(15)|p.K558_V560del(13)|p.K558_V560>N(12)|p.W557_V560>C(11)|p.V559_G565del(11)|p.K558_G565>R(11)|p.Q556_V560del(10)|p.V559_V560del(9)|p.K558_D572del(9)|p.V559_T574del(6)|p.W557_Q575del(6)|p.Q556_V560>H(6)|p.K558_I563del(5)|p.Q556_D572del(5)|p.K558_V560>I(5)|p.W557_V560>F(4)|p.V555_P573del(4)|p.V555_I571del(4)|p.W557_V560del(4)|p.M552_D572del(4)|p.V555_V560del(4)|p.V560_I571del(3)|p.Q556_D572>H(3)|p.Y553_T574>S(3)|p.V560_E561del(3)|p.E554_D572>A(3)|p.Q556_L576del(3)|p.W557_E562del(3)|p.V555_D572del(3)|p.Q556_T574del(3)|p.K558_E561del(3)|p.Y553_E561>LK(2)|p.M552_E561>K(2)|p.V559_D572del(2)|p.W557_P573>S(2)|p.W557_T574del(2)|p.P551_V569del(2)|p.V560_Y578del(2)|p.V560A(2)|p.Y553_E561del(2)|p.Q556_N564>R(2)|p.V555_E562del(2)|p.V555_Q575del(2)|p.W557_D572del(2)|p.W557_N564del(2)|p.V559_E562del(2)|p.K558_N564del(2)|p.W557_I571del(2)|p.K558_Y570>N(2)|p.V559_N566>D(2)|p.Q556_N564>H(2)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.M552_V560del(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.V559_P573>A(1)|p.K558_D572>N(1)|p.E554_N564>D(1)|p.V559_L576del(1)|p.P551_E561>Q(1)|p.Y553_P573del(1)|p.K550_V560>L(1)|p.V555_V560>H(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.Q556_N566>SNNLQLY(1)|p.E554_I571del(1)|p.V560_Y568del(1)|p.V555_V560>T(1)|p.V555_V560>V(1)|p.W557_E561>PS(1)|p.Q556_L576>H(1)|p.K558_G565>A(1)|p.Q556_P573del(1)|p.K558_L576>NV(1)|p.E554_E562del(1)|p.Q556_V560>TTF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_T574>NRS(1)|p.V559_I571del(1)|p.E554_D572del(1)|p.W557_Y570del(1)|p.V560V(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.E554_V560>D(1)|p.V559_S590del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.Q556_V560>HNLQLY(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.K558_V560>M(1)|p.M552_Y570del(1)|p.K558_P573>R(1)|p.V555_G565del(1)|p.V555_I563del(1)|p.V560_N566del(1)|p.K558_G565del(1)|p.Q556_V560>F(1)|p.M552_I563del(1)|p.Q556_E561del(1)|p.V560_D572del(1)|p.V555_N564del(1)|p.Q556_E561>HH(1)|p.K550_Y568del(1)|p.E554_N564del(1)|p.V559_V569del(1)|p.Q556_E561>P(1)		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)	TGGAAGGTTGTTGAGGAGATA	0.388		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			
KDR	3791	broad.mit.edu	37	4	55968120	55968120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:55968120C>T	uc003has.2	-	15	2512	c.2210G>A	c.(2209-2211)TGC>TAC	p.C737Y	KDR_uc003hat.1_Missense_Mutation_p.C737Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	737	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGCCTGGCAGGTGTAGAG	0.393			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
AASDH	132949	broad.mit.edu	37	4	57244456	57244456	+	Missense_Mutation	SNP	T	T	C	rs79451123		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:57244456T>C	uc003hbn.2	-	4	679	c.526A>G	c.(526-528)AAT>GAT	p.N176D	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.N23D|AASDH_uc003hbo.2_Missense_Mutation_p.N76D|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.N176D|AASDH_uc003hbp.2_Missense_Mutation_p.N176D	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	176					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTCTTCATTGACATGCTCA	0.368												
SRP72	6731	broad.mit.edu	37	4	57340473	57340473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:57340473C>T	uc003hbv.2	+	5	566	c.526C>T	c.(526-528)CAT>TAT	p.H176Y	SRP72_uc010ihe.2_Missense_Mutation_p.H176Y|SRP72_uc003hbw.1_5'UTR	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	176					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AGAAGGCACACATGAGCTGTG	0.438												
TECRL	253017	broad.mit.edu	37	4	65175608	65175608	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:65175608A>C	uc003hcv.2	-	6	702	c.593T>G	c.(592-594)CTT>CGT	p.L198R	TECRL_uc003hcw.2_Missense_Mutation_p.L198R	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	198					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGTTTCCAAAAGGTATCGGAT	0.343												
EPHA5	2044	broad.mit.edu	37	4	66280009	66280009	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:66280009G>A	uc003hcy.2	-	7	1873	c.1680C>T	c.(1678-1680)ACC>ACT	p.T560T	EPHA5_uc003hcx.2_Silent_p.T491T|EPHA5_uc003hcz.2_Silent_p.T560T|EPHA5_uc011cah.1_Silent_p.T560T|EPHA5_uc011cai.1_Silent_p.T560T|EPHA5_uc003hda.2_Silent_p.T560T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	560	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TACACACTGGGGTGGTTTCAA	0.453										TSP Lung(17;0.13)		
UBA6	55236	broad.mit.edu	37	4	68528931	68528931	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:68528931T>C	uc003hdg.3	-	12	1015	c.963A>G	c.(961-963)GCA>GCG	p.A321A	UBA6_uc003hdi.2_Silent_p.A321A|UBA6_uc003hdj.2_3'UTR	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	321					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						TCTCTAAAGGTGCCTATTGAG	0.234												
ANKRD17	26057	broad.mit.edu	37	4	73950975	73950975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:73950975C>T	uc003hgp.2	-	30	7267	c.7150G>A	c.(7150-7152)GCA>ACA	p.A2384T	ANKRD17_uc003hgo.2_Missense_Mutation_p.A2271T|ANKRD17_uc003hgq.2_Missense_Mutation_p.A2133T|ANKRD17_uc003hgr.2_Missense_Mutation_p.A2383T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2384					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATTTGATGCTGATGAACAC	0.413												
ANKRD17	26057	broad.mit.edu	37	4	73964088	73964088	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:73964088T>C	uc003hgp.2	-	26	4840	c.4723A>G	c.(4723-4725)AAA>GAA	p.K1575E	ANKRD17_uc003hgo.2_Missense_Mutation_p.K1462E|ANKRD17_uc003hgq.2_Missense_Mutation_p.K1324E|ANKRD17_uc003hgr.2_Missense_Mutation_p.K1574E	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1575					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGTAATTTTATTTTTCCTG	0.373												
ANKRD17	26057	broad.mit.edu	37	4	74007512	74007512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:74007512C>T	uc003hgp.2	-	14	2395	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	ANKRD17_uc003hgo.2_Missense_Mutation_p.E647K|ANKRD17_uc003hgq.2_Missense_Mutation_p.E760K|ANKRD17_uc003hgr.2_Missense_Mutation_p.E760K|ANKRD17_uc011cbd.1_Missense_Mutation_p.E325K	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	760					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTCAGGCTCCTGAGGTGGA	0.453												
CXCL2	2920	broad.mit.edu	37	4	74964597	74964597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:74964597G>A	uc003hhm.3	-	2	303	c.143C>T	c.(142-144)ACC>ATC	p.T48I		NM_002089	NP_002080	P19875	CXCL2_HUMAN	chemokine (C-X-C motif) ligand 2	48					chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin	extracellular space|soluble fraction	chemokine activity				0	Breast(15;0.00612)		all cancers(17;0.00317)|Lung(101;0.196)			TCCCTGCAGGGTCTGCAAGCA	0.622												
SHROOM3	57619	broad.mit.edu	37	4	77661424	77661424	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:77661424A>G	uc011cbx.1	+	5	3051	c.2098A>G	c.(2098-2100)AAG>GAG	p.K700E	SHROOM3_uc011cbz.1_Missense_Mutation_p.K524E|SHROOM3_uc003hkf.1_Missense_Mutation_p.K575E|SHROOM3_uc003hkg.2_Missense_Mutation_p.K478E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	700					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			AGTCAACACCAAGGCAGAAGA	0.662												
CCNG2	901	broad.mit.edu	37	4	78081909	78081909	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:78081909T>C	uc003hkq.3	+	4	615	c.312T>C	c.(310-312)TGT>TGC	p.C104C	CCNG2_uc003hkn.3_Silent_p.C104C|CCNG2_uc011ccc.1_Silent_p.C104C|CCNG2_uc003hkp.3_Silent_p.C104C	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	cyclin G2	104					cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3						TTGGAGTCTGTTCTTTTTTGC	0.373												
FRAS1	80144	broad.mit.edu	37	4	79403543	79403543	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:79403543A>G	uc003hlb.2	+	58	9046	c.8606A>G	c.(8605-8607)TAT>TGT	p.Y2869C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2864	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CTCTTCTAGTATTGCACCTTG	0.468												
PRKG2	5593	broad.mit.edu	37	4	82096098	82096098	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:82096098A>G	uc003hmh.2	-	2	491	c.477T>C	c.(475-477)ATT>ATC	p.I159I	PRKG2_uc011cch.1_Silent_p.I159I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	159					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						GGGCATCTGTAATGAGCTTCT	0.338												
LIN54	132660	broad.mit.edu	37	4	83891603	83891603	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:83891603A>G	uc003hnx.3	-	4	1206	c.828T>C	c.(826-828)TCT>TCC	p.S276S	LIN54_uc003hnz.3_Silent_p.S55S|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Silent_p.S55S	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	276					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				TTCCGGGAGTAGACTGTGAAA	0.358												
HPSE	10855	broad.mit.edu	37	4	84222192	84222192	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:84222192G>A	uc003hoj.3	-	11	1492	c.1393C>T	c.(1393-1395)CGG>TGG	p.R465W	HPSE_uc010ika.2_Missense_Mutation_p.R407W|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R208W|HPSE_uc011cct.1_Missense_Mutation_p.R391W|HPSE_uc003hok.3_Missense_Mutation_p.R465W	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	465					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGGGTAACCGCAAGTACTTG	0.353												
WDFY3	23001	broad.mit.edu	37	4	85611684	85611684	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85611684T>A	uc003hpd.2	-	61	9746	c.9338A>T	c.(9337-9339)AAG>ATG	p.K3113M		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3113	WD 1.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTCTTGGCCTTTTCTTTGGA	0.512												
WDFY3	23001	broad.mit.edu	37	4	85658383	85658383	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85658383C>T	uc003hpd.2	-	41	7119	c.6711G>A	c.(6709-6711)AGG>AGA	p.R2237R		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2237						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAATGAGTGGCCTTGCTGTAG	0.438												
WDFY3	23001	broad.mit.edu	37	4	85719168	85719168	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:85719168A>G	uc003hpd.2	-	18	3324	c.2916T>C	c.(2914-2916)AGT>AGC	p.S972S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	972						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGGTTCATAACTCAGTGAAC	0.328												
KLHL8	57563	broad.mit.edu	37	4	88106783	88106783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:88106783G>A	uc011cdb.1	-	3	770	c.385C>T	c.(385-387)CGG>TGG	p.R129W	KLHL8_uc003hql.1_Missense_Mutation_p.R129W|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	129	BTB.										0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAAGTGAGCCGTGAAGAATAG	0.413												
HERC6	55008	broad.mit.edu	37	4	89311835	89311835	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:89311835C>T	uc011cdi.1	+	4	651	c.468C>T	c.(466-468)AGC>AGT	p.S156S	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Silent_p.S156S|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	156	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAAAGAACAGCCATGGGCAGC	0.507												
PDLIM5	10611	broad.mit.edu	37	4	95575764	95575764	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:95575764T>C	uc003hti.2	+	10	1588	c.1437T>C	c.(1435-1437)TGT>TGC	p.C479C	PDLIM5_uc011cdx.1_Silent_p.C376C|PDLIM5_uc003hth.2_Silent_p.C370C|PDLIM5_uc003htj.2_Silent_p.C154C|PDLIM5_uc003htk.2_Silent_p.C508C|PDLIM5_uc011cdy.1_Silent_p.C357C|PDLIM5_uc003htl.2_Silent_p.C154C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	479	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCCCTGAATGTGGTCGATGCC	0.378												
UNC5C	8633	broad.mit.edu	37	4	96166239	96166239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:96166239G>A	uc003htp.1	-	6	986	c.832C>T	c.(832-834)CGA>TGA	p.R278*	UNC5C_uc010ilc.1_Nonsense_Mutation_p.R278*|UNC5C_uc003htq.2_Nonsense_Mutation_p.R278*	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	278	Extracellular (Potential).|TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATACCCTCGTCCACAGCGG	0.517												
ADH5	128	broad.mit.edu	37	4	99996121	99996121	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:99996121G>A	uc003hui.2	-	7	985	c.905C>T	c.(904-906)GCC>GTC	p.A302V	ADH5_uc003huj.2_Missense_Mutation_p.A180V	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	302					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TGGACGAGTGGCAATTTCTTC	0.507												
ADH1A	124	broad.mit.edu	37	4	100203670	100203670	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:100203670T>A	uc003hur.1	-	6	732	c.661A>T	c.(661-663)ATT>TTT	p.I221F	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.I221F|ADH1A_uc010ilf.1_Missense_Mutation_p.I12F	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	221					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TCCACCGCAATGATTCTGGCT	0.527												
RG9MTD2	93587	broad.mit.edu	37	4	100477370	100477370	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:100477370A>G	uc003huy.2	-	5	741	c.428T>C	c.(427-429)TTG>TCG	p.L143S	RG9MTD2_uc003huz.3_Missense_Mutation_p.L143S|RG9MTD2_uc003hva.3_Missense_Mutation_p.L143S	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	143							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GTGGCTTGTCAAGTAAAACTG	0.333												
RPL34	6164	broad.mit.edu	37	4	109543723	109543723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:109543723A>G	uc003hyz.2	+	4	262	c.218A>G	c.(217-219)CAT>CGT	p.H73R	LOC285456_uc003hyy.2_5'Flank|LOC285456_uc011cfl.1_5'Flank|RPL34_uc003hza.2_Missense_Mutation_p.H73R	NM_000995	NP_000986	P49207	RL34_HUMAN	ribosomal protein L34	73					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ACAAAGAAACATGTCAGCAGG	0.358												
EGF	1950	broad.mit.edu	37	4	110901129	110901129	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:110901129T>C	uc003hzy.3	+	14	2507	c.2055T>C	c.(2053-2055)GGT>GGC	p.G685G	EGF_uc011cfu.1_Silent_p.G643G|EGF_uc011cfv.1_Silent_p.G685G|EGF_uc010imk.2_5'Flank	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	685	LDL-receptor class B 9.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGTTTCCAGGTCACCCATTTG	0.388												
ALPK1	80216	broad.mit.edu	37	4	113353418	113353418	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113353418C>T	uc003iap.3	+	11	2994	c.2715C>T	c.(2713-2715)TGC>TGT	p.C905C	ALPK1_uc003ian.3_Silent_p.C905C|ALPK1_uc011cfx.1_Silent_p.C827C|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.C733C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	905							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCGAGGACTGCACTACCACAG	0.532												
ALPK1	80216	broad.mit.edu	37	4	113356333	113356333	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113356333T>A	uc003iap.3	+	12	3343	c.3064T>A	c.(3064-3066)TCT>ACT	p.S1022T	ALPK1_uc003ian.3_Missense_Mutation_p.S1022T|ALPK1_uc011cfx.1_Missense_Mutation_p.S944T|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.S850T	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1022	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCAAAAAAATCTGAACTGTG	0.343												
NEUROG2	63973	broad.mit.edu	37	4	113436383	113436383	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:113436383T>C	uc003ias.2	-	2	576	c.249A>G	c.(247-249)GTA>GTG	p.V83V		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	83					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGCAATCGTGTACCAGACCCA	0.517												
ANK2	287	broad.mit.edu	37	4	114275746	114275746	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114275746G>T	uc003ibe.3	+	38	6072	c.5972G>T	c.(5971-5973)CGG>CTG	p.R1991L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.R2006L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1958					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGTCTGTTCGGGAGCTGATG	0.463												
ANK2	287	broad.mit.edu	37	4	114277471	114277471	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114277471A>G	uc003ibe.3	+	38	7797	c.7697A>G	c.(7696-7698)CAT>CGT	p.H2566R	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.H2581R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2533					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCTGTGATTCATGAATGTGCA	0.433												
ANK2	287	broad.mit.edu	37	4	114277794	114277794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:114277794A>T	uc003ibe.3	+	38	8120	c.8020A>T	c.(8020-8022)AAA>TAA	p.K2674*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Nonsense_Mutation_p.K2689*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2641					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCACAGCTTAAAAAAGGTGC	0.493												
SEC24D	9871	broad.mit.edu	37	4	119660424	119660424	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:119660424T>C	uc003ici.3	-	18	2529	c.2257A>G	c.(2257-2259)ACA>GCA	p.T753A	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.T754A|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	753					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	zinc ion binding				0						CCACTGATTGTCGTGTAAAGC	0.398												
USP53	54532	broad.mit.edu	37	4	120192602	120192602	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:120192602A>G	uc003ics.3	+	15	2653	c.1587A>G	c.(1585-1587)GCA>GCG	p.A529A	USP53_uc003icr.3_Silent_p.A529A|USP53_uc003icu.3_Silent_p.A152A|USP53_uc003ict.2_Silent_p.A152A	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	529					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GAGCTTCTGCACAAATAATAA	0.388												
BBS7	55212	broad.mit.edu	37	4	122749572	122749572	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:122749572T>C	uc003ied.2	-	17	2049	c.1875A>G	c.(1873-1875)TTA>TTG	p.L625L	BBS7_uc003iee.1_Silent_p.L625L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	625					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						AAGCATCAATTAACTGCACTT	0.338									Bardet-Biedl_syndrome			
KIAA1109	84162	broad.mit.edu	37	4	123095782	123095782	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123095782T>C	uc003ieh.2	+	3	313	c.268T>C	c.(268-270)TAC>CAC	p.Y90H		NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	90					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGAAATCTATTACATTACAGA	0.284												
KIAA1109	84162	broad.mit.edu	37	4	123128729	123128729	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123128729T>C	uc003ieh.2	+	15	1733	c.1688T>C	c.(1687-1689)ATT>ACT	p.I563T	KIAA1109_uc003iei.1_Missense_Mutation_p.I317T|KIAA1109_uc010ins.1_5'UTR|KIAA1109_uc003iej.1_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	563					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACACTAAACATTGATTTTTCT	0.279												
KIAA1109	84162	broad.mit.edu	37	4	123161262	123161262	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123161262T>C	uc003ieh.2	+	27	4470	c.4425T>C	c.(4423-4425)GTT>GTC	p.V1475V	KIAA1109_uc003iei.1_Silent_p.V1228V|KIAA1109_uc010ins.1_Silent_p.V818V|KIAA1109_uc003iek.2_Silent_p.V94V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1475					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAGATGATGTTATAGAACATC	0.408												
KIAA1109	84162	broad.mit.edu	37	4	123187969	123187969	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123187969G>T	uc003ieh.2	+	44	7394	c.7349G>T	c.(7348-7350)GGG>GTG	p.G2450V	KIAA1109_uc003iel.1_Missense_Mutation_p.G385V|KIAA1109_uc003iek.2_Missense_Mutation_p.G1069V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2450					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGTCATACAGGGATCCAGTCA	0.393												
KIAA1109	84162	broad.mit.edu	37	4	123193524	123193524	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123193524A>T	uc003ieh.2	+	46	8455	c.8410A>T	c.(8410-8412)ATC>TTC	p.I2804F	KIAA1109_uc003iel.1_Missense_Mutation_p.I739F|KIAA1109_uc003iek.2_Missense_Mutation_p.I1423F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2804					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACTGAAGAGGATCCATGGCAG	0.368												
KIAA1109	84162	broad.mit.edu	37	4	123202719	123202719	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123202719A>G	uc003ieh.2	+	50	8872	c.8827A>G	c.(8827-8829)ACC>GCC	p.T2943A	KIAA1109_uc003iel.1_Missense_Mutation_p.T878A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2943					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AGATATTGCAACCCCACTACC	0.348												
KIAA1109	84162	broad.mit.edu	37	4	123271136	123271136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:123271136A>G	uc003ieh.2	+	78	13801	c.13756A>G	c.(13756-13758)ACC>GCC	p.T4586A	KIAA1109_uc003iem.2_Missense_Mutation_p.T942A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4586					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACAATTTGATACCAGCAAACG	0.398												
SPRY1	10252	broad.mit.edu	37	4	124323424	124323424	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:124323424G>T	uc003ifa.2	+	2	866	c.678G>T	c.(676-678)AAG>AAT	p.K226N	SPRY1_uc003ifb.2_Missense_Mutation_p.K226N	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	226	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GCTTAGTCAAGGGCATCTTCT	0.507												
FAT4	79633	broad.mit.edu	37	4	126371136	126371136	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:126371136T>C	uc003ifj.3	+	9	8965	c.8965T>C	c.(8965-8967)TTC>CTC	p.F2989L	FAT4_uc011cgp.1_Missense_Mutation_p.F1287L|FAT4_uc003ifi.1_Missense_Mutation_p.F467L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2989	Extracellular (Potential).|Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAGTAAATATTTCACTCCAGT	0.343												
HSPA4L	22824	broad.mit.edu	37	4	128732617	128732617	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:128732617T>C	uc003ifm.2	+	12	1657	c.1404T>C	c.(1402-1404)TTT>TTC	p.F468F	HSPA4L_uc010iny.1_Silent_p.F427F|HSPA4L_uc011cgr.1_Silent_p.F435F	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	468					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AGAATGTTTTTCCACAGTCTG	0.368												
PLK4	10733	broad.mit.edu	37	4	128819592	128819592	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:128819592A>G	uc003ifo.2	+	16	3056	c.2811_splice	c.e16-2	p.R937_splice	PLK4_uc011cgs.1_Splice_Site_p.R905_splice|PLK4_uc011cgt.1_Splice_Site_p.R896_splice	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4						G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						TGCTTCACTTAGGTATGGAGA	0.313												
PGRMC2	10424	broad.mit.edu	37	4	129193591	129193591	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:129193591T>C	uc003igg.2	-	2	505	c.500A>G	c.(499-501)GAT>GGT	p.D167G		NM_006320	NP_006311			progesterone receptor membrane component 2												0						ATCATATTCATCTCTAAGTGC	0.378												
PCDH10	57575	broad.mit.edu	37	4	134072100	134072100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134072100G>A	uc003iha.2	+	1	1631	c.805G>A	c.(805-807)GTG>ATG	p.V269M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V269M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	269	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGCACTCTCGTGATCCAGCT	0.612												
PCDH10	57575	broad.mit.edu	37	4	134084157	134084157	+	Silent	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134084157T>G	uc003iha.2	+	4	3649	c.2823T>G	c.(2821-2823)ACT>ACG	p.T941T		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	941	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCAATTGCACTGAGGAATGTA	0.468												
PCDH18	54510	broad.mit.edu	37	4	138442824	138442824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:138442824T>C	uc003ihe.3	-	4	3154	c.2767A>G	c.(2767-2769)AGG>GGG	p.R923G	PCDH18_uc003ihf.3_Missense_Mutation_p.R915G|PCDH18_uc011cgz.1_Missense_Mutation_p.R134G|PCDH18_uc003ihg.3_Missense_Mutation_p.R702G|PCDH18_uc011cha.1_Missense_Mutation_p.R103G	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	923	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCCAGGACCCTGCACTCCTCC	0.458												
CCRN4L	25819	broad.mit.edu	37	4	139964348	139964348	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:139964348C>T	uc003ihl.2	+	2	504	c.311C>T	c.(310-312)CCC>CTC	p.P104L	CCRN4L_uc003ihk.1_Missense_Mutation_p.P104L	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	104					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					CATCTGGAGCCCATTGATCCT	0.557												
C4orf49	84709	broad.mit.edu	37	4	140189882	140189882	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:140189882G>C	uc003ihr.1	-	3	404	c.224C>G	c.(223-225)ACA>AGA	p.T75R		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	75						integral to membrane				central_nervous_system(1)|skin(1)	2						TTTATGTTCTGTGTGTTTGGC	0.303												
MAML3	55534	broad.mit.edu	37	4	140640863	140640863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:140640863C>T	uc003ihz.1	-	7	3768	c.3016G>A	c.(3016-3018)GTG>ATG	p.V1006M	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.V474M	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	1007					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					TTAGCATCCACGACTGACTGG	0.612												
CLGN	1047	broad.mit.edu	37	4	141317347	141317347	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141317347T>C	uc011chi.1	-	10	1115	c.897A>G	c.(895-897)GAA>GAG	p.E299E	CLGN_uc003iii.2_Silent_p.E299E	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	299	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					TTTGGGCAGGTTCACTTTCAT	0.333												
CLGN	1047	broad.mit.edu	37	4	141323176	141323176	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141323176T>C	uc011chi.1	-	7	682	c.464A>G	c.(463-465)TAC>TGC	p.Y155C	CLGN_uc003iii.2_Missense_Mutation_p.Y155C	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	155	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					GAGTTTAATGTATGCACCTCC	0.274												
IL15	3600	broad.mit.edu	37	4	142651089	142651089	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:142651089A>G	uc003iis.2	+	7	699	c.330A>G	c.(328-330)ACA>ACG	p.T110T	IL15_uc003iit.2_Silent_p.T110T|IL15_uc010iol.2_RNA|IL15_uc003iiu.2_RNA	NM_000585	NP_000576	P40933	IL15_HUMAN	interleukin 15 preproprotein	110					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)					TTCATGATACAGTAGAAAATC	0.378												
USP38	84640	broad.mit.edu	37	4	144135635	144135635	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:144135635A>G	uc003ijb.2	+	9	3040	c.2506A>G	c.(2506-2508)AAA>GAA	p.K836E	USP38_uc003ija.3_Missense_Mutation_p.K836E|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	836					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					TTCCTGCACAAAATTGGTGCC	0.398												
TTC29	83894	broad.mit.edu	37	4	147824752	147824752	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:147824752C>T	uc003ikw.3	-	6	757	c.530G>A	c.(529-531)TGT>TAT	p.C177Y	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.C203Y|TTC29_uc010ipd.1_Missense_Mutation_p.C177Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	177							binding				0	all_hematologic(180;0.151)					TTTCTTCCCACAGTCAATTTT	0.448												
MAB21L2	10586	broad.mit.edu	37	4	151504506	151504506	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:151504506A>G	uc003ilw.2	+	1	1430	c.325A>G	c.(325-327)AGC>GGC	p.S109G	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	109					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCGGAAGCGGAGCATGTCTCT	0.622												
FHDC1	85462	broad.mit.edu	37	4	153886120	153886120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:153886120A>G	uc003inf.2	+	8	1168	c.1093A>G	c.(1093-1095)ACT>GCT	p.T365A		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	365	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					TGTTCAGAAGACTGCTAGGTG	0.308												
DCHS2	54798	broad.mit.edu	37	4	155180907	155180907	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:155180907T>C	uc003inw.2	-	20	5214	c.5214A>G	c.(5212-5214)GGA>GGG	p.G1738G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1738	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTGAGTTGTCCTATTTTTA	0.264												
DCHS2	54798	broad.mit.edu	37	4	155219676	155219676	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:155219676A>G	uc003inw.2	-	18	4425	c.4425T>C	c.(4423-4425)AGT>AGC	p.S1475S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1475	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAAGAAGGACTGTGGTCAT	0.473												
MAP9	79884	broad.mit.edu	37	4	156289783	156289783	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:156289783T>C	uc003ios.2	-	5	927	c.663A>G	c.(661-663)CAA>CAG	p.Q221Q	MAP9_uc011cin.1_Silent_p.Q220Q|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Silent_p.Q220Q|MAP9_uc010iqb.1_Silent_p.Q148Q	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	221					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTTCTAATTGTATGCCAT	0.398												
RXFP1	59350	broad.mit.edu	37	4	159568163	159568163	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159568163A>G	uc003ipz.2	+	16	1648	c.1566A>G	c.(1564-1566)AGA>AGG	p.R522R	RXFP1_uc011cja.1_Silent_p.R417R|RXFP1_uc010iqo.2_Silent_p.R474R|RXFP1_uc011cjb.1_Silent_p.R420R|RXFP1_uc010iqk.2_Silent_p.R390R|RXFP1_uc011cjc.1_Silent_p.R441R|RXFP1_uc011cjd.1_Silent_p.R441R|RXFP1_uc010iql.2_Silent_p.R366R|RXFP1_uc011cje.1_Silent_p.R549R|RXFP1_uc010iqm.2_Silent_p.R489R|RXFP1_uc011cjf.1_Silent_p.R391R|RXFP1_uc010iqn.2_Silent_p.R467R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	522	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GATGTGTGAGACCTGGAAAAT	0.343												
ETFDH	2110	broad.mit.edu	37	4	159627420	159627420	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159627420A>G	uc003iqb.2	+	11	1697	c.1365A>G	c.(1363-1365)AGA>AGG	p.R455R	ETFDH_uc011cjg.1_Silent_p.R408R|ETFDH_uc010iqr.2_Silent_p.R52R|ETFDH_uc011cjh.1_Silent_p.R394R|ETFDH_uc010iqs.2_Silent_p.R377R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	455					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAATATAAGACCGTCCTGCC	0.383												
ETFDH	2110	broad.mit.edu	37	4	159629557	159629557	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159629557C>T	uc003iqb.2	+	13	2064	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W	ETFDH_uc011cjg.1_Missense_Mutation_p.R531W|ETFDH_uc010iqr.2_Missense_Mutation_p.R175W|ETFDH_uc011cjh.1_Missense_Mutation_p.R517W|ETFDH_uc010iqs.2_Missense_Mutation_p.R500W	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	578	4Fe-4S ferredoxin-type.				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGATGGATTTCGGTTACAGAT	0.318												
PPID	5481	broad.mit.edu	37	4	159642617	159642617	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159642617T>G	uc003iqc.2	-	2	216	c.104A>C	c.(103-105)GAA>GCA	p.E35A		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	35	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TGCAAACAATTCTAAGACAAT	0.368												
ANXA10	11199	broad.mit.edu	37	4	169013864	169013864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:169013864G>A	uc003irm.2	+	1	158	c.13G>A	c.(13-15)GAC>AAC	p.D5N		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	5							calcium ion binding|calcium-dependent phospholipid binding				0		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GTTTTGTGGAGACTATGTGAG	0.289												
CLCN3	1182	broad.mit.edu	37	4	170611768	170611768	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:170611768T>C	uc003isi.2	+	6	1203	c.694T>C	c.(694-696)TTT>CTT	p.F232L	CLCN3_uc003ish.2_Missense_Mutation_p.F232L|CLCN3_uc011cjz.1_Missense_Mutation_p.F215L|CLCN3_uc011cka.1_Missense_Mutation_p.F232L|CLCN3_uc003isj.1_Missense_Mutation_p.F205L	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	232	Helical; (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGTAAAGGTATTTGCTCCATA	0.368												
HMGB2	3148	broad.mit.edu	37	4	174254362	174254362	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:174254362T>C	uc011ckc.1	-	2	274	c.154A>G	c.(154-156)ATG>GTG	p.M52V	HMGB2_uc003ita.3_Missense_Mutation_p.M52V|HMGB2_uc003itb.2_Missense_Mutation_p.M52V|HMGB2_uc003itc.2_Missense_Mutation_p.M52V	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	52	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTTGCAGACATGGTCTGTGGA	0.373												
AGA	175	broad.mit.edu	37	4	178354503	178354503	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:178354503T>C	uc003iuu.1	-	8	869	c.807_splice	c.e8-1	p.S269_splice	AGA_uc010irt.1_Intron	NM_000027	NP_000018	P20933	ASPG_HUMAN	aspartylglucosaminidase precursor						asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCTTGGTAGCTGATTGAAACA	0.368												
ODZ3	55714	broad.mit.edu	37	4	183658145	183658145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:183658145C>T	uc003ivd.1	+	16	3189	c.3152C>T	c.(3151-3153)GCC>GTC	p.A1051V	ODZ3_uc003ive.1_Missense_Mutation_p.A457V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1051	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)		TGGTTTCCTGCCTCACCAAAC	0.368												
CASP3	836	broad.mit.edu	37	4	185553055	185553055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:185553055C>T	uc003iwh.2	-	6	610	c.347G>A	c.(346-348)TGT>TAT	p.C116Y	CASP3_uc003iwg.2_Missense_Mutation_p.C116Y|CASP3_uc003iwi.2_Missense_Mutation_p.C116Y	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	116					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CAGAAGCACACAAACAAAACT	0.343												
SLC25A4	291	broad.mit.edu	37	4	186066006	186066006	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186066006T>C	uc003ixd.2	+	2	329	c.200T>C	c.(199-201)TTC>TCC	p.F67S	SLC25A4_uc003ixe.2_RNA	NM_001151	NP_001142	P12235	ADT1_HUMAN	adenine nucleotide translocator 1	67	Solcar 1.				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			ovary(1)	1		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GAGCAGGGCTTCCTCTCCTTC	0.527												
SNX25	83891	broad.mit.edu	37	4	186283815	186283815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186283815A>G	uc003ixh.2	+	18	2581	c.2392A>G	c.(2392-2394)AAA>GAA	p.K798E	SNX25_uc010ish.2_Missense_Mutation_p.K514E|SNX25_uc003ixi.2_Missense_Mutation_p.K302E	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	798					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CGGTATAATAAAAATATTCAA	0.383												
UFSP2	55325	broad.mit.edu	37	4	186324686	186324686	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:186324686A>G	uc003ixo.2	-	11	1402	c.1285T>C	c.(1285-1287)TAT>CAT	p.Y429H	UFSP2_uc003ixn.2_Missense_Mutation_p.Y304H|UFSP2_uc003ixq.2_Missense_Mutation_p.Y319H|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	429						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GCACCGGTATAATGTGGATCT	0.388												
TLR3	7098	broad.mit.edu	37	4	187004019	187004019	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187004019G>A	uc003iyq.2	+	4	1280	c.1179G>A	c.(1177-1179)TTG>TTA	p.L393L	TLR3_uc011ckz.1_Silent_p.L116L|TLR3_uc003iyr.2_Silent_p.L116L	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	393	LRR 14.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTACAAGTTTGCGAACTTTGA	0.328												
KLKB1	3818	broad.mit.edu	37	4	187155135	187155135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187155135C>T	uc003iyy.2	+	4	322	c.251C>T	c.(250-252)ACA>ATA	p.T84I	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.T46I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	84	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GATAGTGTTACAGGAACCCTG	0.353												
F11	2160	broad.mit.edu	37	4	187192764	187192764	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187192764A>G	uc003iza.1	+	3	390	c.57A>G	c.(55-57)GAA>GAG	p.E19E	F11_uc003iyz.2_Silent_p.E19E	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	19					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ACATCACAGAATGTGTGACTC	0.458												
FAT1	2195	broad.mit.edu	37	4	187540381	187540381	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187540381G>C	uc003izf.2	-	10	7547	c.7359C>G	c.(7357-7359)CAC>CAG	p.H2453Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2453	Extracellular (Potential).|Cadherin 22.				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						GGGCGTGCCGGTGCAGGTTTG	0.433										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187541428	187541428	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187541428A>G	uc003izf.2	-	10	6500	c.6312T>C	c.(6310-6312)ACT>ACC	p.T2104T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2104	Extracellular (Potential).|Cadherin 19.				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						TGTCTACAGCAGTGACATAGC	0.463										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187628543	187628543	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:187628543G>A	uc003izf.2	-	2	2627	c.2439C>T	c.(2437-2439)GTC>GTT	p.V813V	FAT1_uc010iso.1_Silent_p.V813V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	813	Extracellular (Potential).|Cadherin 6.				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						CATTGGCATCGACAACCACGA	0.458										HNSCC(5;0.00058)		
PLEKHG4B	153478	broad.mit.edu	37	5	156323	156323	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156323C>T	uc003jak.2	+	8	1328	c.1278C>T	c.(1276-1278)AGC>AGT	p.S426S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	426					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAAGACAGCCGGTGAGCGC	0.647												
PLEKHG4B	153478	broad.mit.edu	37	5	169705	169705	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:169705C>G	uc003jak.2	+	12	2709	c.2659C>G	c.(2659-2661)CAC>GAC	p.H887D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	887	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTTCCTGAGACACGTAAGTGC	0.657												
PLEKHG4B	153478	broad.mit.edu	37	5	171406	171406	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171406C>T	uc003jak.2	+	14	2879	c.2829C>T	c.(2827-2829)TAC>TAT	p.Y943Y		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	943	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGCCAAGTACGCGCTGCTAC	0.677												
SLC9A3	6550	broad.mit.edu	37	5	481730	481730	+	Silent	SNP	C	C	T	rs146433621	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:481730C>T	uc003jbe.2	-	9	1579	c.1467G>A	c.(1465-1467)TCG>TCA	p.S489S	SLC9A3_uc011clx.1_Silent_p.S480S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	489	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCTCGATGGCCGAGAGGATGT	0.612												
SLC9A3	6550	broad.mit.edu	37	5	484636	484636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:484636C>T	uc003jbe.2	-	5	1043	c.931G>A	c.(931-933)GCC>ACC	p.A311T	SLC9A3_uc011clx.1_Missense_Mutation_p.A311T	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	311	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGACTCACGCGAGGATGGCC	0.642												
IRX1	79192	broad.mit.edu	37	5	3600279	3600279	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:3600279T>G	uc003jde.2	+	2	1269	c.1217T>G	c.(1216-1218)CTT>CGT	p.L406R		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCCCTCACCTTCCTGCACCT	0.682												
ADAMTS16	170690	broad.mit.edu	37	5	5239878	5239878	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5239878T>C	uc003jdl.2	+	16	2501	c.2363T>C	c.(2362-2364)GTG>GCG	p.V788A	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V788A	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	788	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TACATTTCTGTGCGCAATGCC	0.502												
NSUN2	54888	broad.mit.edu	37	5	6604762	6604762	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:6604762T>C	uc003jdu.2	-	16	1839	c.1774A>G	c.(1774-1776)AAC>GAC	p.N592D	NSUN2_uc003jds.2_Missense_Mutation_p.N38D|NSUN2_uc003jdt.2_Missense_Mutation_p.N356D|NSUN2_uc011cmk.1_Missense_Mutation_p.N557D|NSUN2_uc003jdv.2_Missense_Mutation_p.N356D	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	592						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						TCACCGCTGTTATTTCTACAC	0.443												
PAPD7	11044	broad.mit.edu	37	5	6754991	6754991	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:6754991G>A	uc003jdx.1	+	13	1691	c.1562G>A	c.(1561-1563)CGC>CAC	p.R521H	PAPD7_uc011cmn.1_Missense_Mutation_p.R511H|PAPD7_uc010itl.1_Missense_Mutation_p.R341H	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	521					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CAGTATAACCGCACCGGCTGG	0.642												
ADCY2	108	broad.mit.edu	37	5	7709482	7709482	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:7709482C>T	uc003jdz.1	+	10	1627	c.1560C>T	c.(1558-1560)AAC>AAT	p.N520N	ADCY2_uc011cmo.1_Silent_p.N340N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	520	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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CCACAGAGAACGGCAAGATCA	0.587												
DNAH5	1767	broad.mit.edu	37	5	13737440	13737440	+	Silent	SNP	G	G	A	rs140960222		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:13737440G>A	uc003jfd.2	-	66	11418	c.11376C>T	c.(11374-11376)GCC>GCT	p.A3792A	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3792	Potential.|AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCACCTCCTCGGCTGTCCTTT	0.458									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14399145	14399145	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:14399145G>T	uc003jff.2	+	30	4586	c.4580G>T	c.(4579-4581)GGG>GTG	p.G1527V	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.G1478V|TRIO_uc003jfh.1_Missense_Mutation_p.G1176V	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1527	PH 1.				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)					GATTCCAGTGGGAGAAGCAAG	0.373												
FAM105B	90268	broad.mit.edu	37	5	14681586	14681586	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:14681586T>C	uc003jfk.2	+	4	490	c.338T>C	c.(337-339)GTT>GCT	p.V113A		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	113										ovary(2)	2	Lung NSC(4;0.00696)					TATGAAGAGGTTTCTCAGAAG	0.502												
MYO10	4651	broad.mit.edu	37	5	16668508	16668508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:16668508G>A	uc003jft.3	-	40	6421	c.5953C>T	c.(5953-5955)CGT>TGT	p.R1985C	MYO10_uc011cnb.1_Missense_Mutation_p.R614C|MYO10_uc011cnc.1_Missense_Mutation_p.R864C|MYO10_uc011cnd.1_Missense_Mutation_p.R1342C|MYO10_uc011cne.1_Missense_Mutation_p.R1342C|MYO10_uc010itx.2_Missense_Mutation_p.R1607C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCCTCTCCACGCTTGTAGACG	0.547												
MYO10	4651	broad.mit.edu	37	5	16670846	16670846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:16670846C>T	uc003jft.3	-	39	6140	c.5672G>A	c.(5671-5673)CGG>CAG	p.R1891Q	MYO10_uc011cnb.1_Missense_Mutation_p.R520Q|MYO10_uc011cnc.1_Missense_Mutation_p.R770Q|MYO10_uc011cnd.1_Missense_Mutation_p.R1248Q|MYO10_uc011cne.1_Missense_Mutation_p.R1248Q|MYO10_uc010itx.2_Missense_Mutation_p.R1513Q	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1891	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CCGGAAGCTCCGCCTCAGGGT	0.587												
NPR3	4883	broad.mit.edu	37	5	32712294	32712294	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AGTGTGCGAGTATGCAGCAGC	0.672												
ADAMTS12	81792	broad.mit.edu	37	5	33596060	33596060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:33596060T>C	uc003jia.1	-	17	2796	c.2633A>G	c.(2632-2634)CAT>CGT	p.H878R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.H793R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	878	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGCCTTTTCATGGCACTTCTT	0.527										HNSCC(64;0.19)		
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:33947401G>A	uc003jid.2	-	6	1327	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	SLC45A2_uc003jie.2_Missense_Mutation_p.T412M	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	412	Helical; Name=9; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AATAAATCCCGTCCCCAGGCC	0.488												
BRIX1	55299	broad.mit.edu	37	5	34923248	34923248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:34923248C>T	uc003jja.2	+	8	596	c.572C>T	c.(571-573)ACA>ATA	p.T191I	BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	191	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						ATCTTTAGTACACCACGGTAT	0.323												
SPEF2	79925	broad.mit.edu	37	5	35795817	35795817	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:35795817T>C	uc003jjo.2	+	33	4861	c.4750T>C	c.(4750-4752)TTT>CTT	p.F1584L	SPEF2_uc003jjp.1_Missense_Mutation_p.F1070L|SPEF2_uc003jjr.2_Missense_Mutation_p.F639L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1584					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTCTGTGGTTTACAGGAGA	0.348												
SPEF2	79925	broad.mit.edu	37	5	35800082	35800082	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:35800082C>A	uc003jjo.2	+	34	4954	c.4843C>A	c.(4843-4845)CTA>ATA	p.L1615I	SPEF2_uc003jjp.1_Missense_Mutation_p.L1101I|SPEF2_uc003jjr.2_Missense_Mutation_p.L670I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1615					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTCTTTAGGCTATTTGCTGA	0.358												
NIPBL	25836	broad.mit.edu	37	5	36985832	36985832	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:36985832T>C	uc003jkl.3	+	10	3049	c.2550T>C	c.(2548-2550)AGT>AGC	p.S850S	NIPBL_uc003jkk.3_Silent_p.S850S|NIPBL_uc003jkm.1_Silent_p.S729S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	850					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCTCTAGTAGAAATGAAC	0.408												
NIPBL	25836	broad.mit.edu	37	5	37059070	37059070	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:37059070A>G	uc003jkl.3	+	44	7987	c.7488A>G	c.(7486-7488)GAA>GAG	p.E2496E	NIPBL_uc003jkk.3_Silent_p.E2496E|NIPBL_uc003jkn.2_Silent_p.E189E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2496					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTGAAGAAGAAGTTTCCAGGC	0.323												
LIFR	3977	broad.mit.edu	37	5	38496504	38496504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:38496504G>A	uc010ive.1	-	13	2197	c.1865C>T	c.(1864-1866)GCG>GTG	p.A622V	LIFR_uc003jli.2_Missense_Mutation_p.A622V	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	622	Extracellular (Potential).|Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TTCCATACTCGCTATTTTGGA	0.393			T	PLAG1	salivary adenoma							
C9	735	broad.mit.edu	37	5	39331866	39331866	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:39331866A>G	uc003jlv.3	-	5	616	c.527T>C	c.(526-528)TTC>TCC	p.F176S		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	176	MACPF.				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)			TCCATTGTAGAACTCATTGTC	0.438												
DAB2	1601	broad.mit.edu	37	5	39393475	39393475	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:39393475A>G	uc003jlx.2	-	3	643	c.112T>C	c.(112-114)TAT>CAT	p.Y38H	DAB2_uc003jlw.2_Missense_Mutation_p.Y38H	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	38					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			GCTAAGAGATATTCATCTGTC	0.388												
C6	729	broad.mit.edu	37	5	41203199	41203199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:41203199C>T	uc003jmk.2	-	2	344	c.134G>A	c.(133-135)AGC>AAC	p.S45N	C6_uc003jml.1_Missense_Mutation_p.S45N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	45	TSP type-1 1.				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)				CCTGTGTCTGCTCTGGGTTCC	0.493												
NNT	23530	broad.mit.edu	37	5	43656831	43656831	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:43656831C>T	uc003joe.2	+	16	2625	c.2370C>T	c.(2368-2370)GGC>GGT	p.G790G	NNT_uc003jof.2_Silent_p.G790G	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	790	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTAGTGTGGGCGGGATAATCC	0.507												
CDC20B	166979	broad.mit.edu	37	5	54420721	54420721	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:54420721A>G	uc003jpo.1	-	9	1300	c.1125T>C	c.(1123-1125)AGT>AGC	p.S375S	CDC20B_uc003jpn.1_Silent_p.S375S|CDC20B_uc010ivu.1_Silent_p.S375S|CDC20B_uc010ivv.1_3'UTR	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	375	WD 4.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GCAGTCCATCACTGCAGCCGC	0.562												
IL31RA	133396	broad.mit.edu	37	5	55168141	55168141	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:55168141A>G	uc003jql.2	+	4	381	c.316A>G	c.(316-318)ACA>GCA	p.T106A	IL31RA_uc003jqk.2_Missense_Mutation_p.T106A|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Missense_Mutation_p.T74A|IL31RA_uc003jqn.2_Missense_Mutation_p.T106A|IL31RA_uc010iwa.1_Missense_Mutation_p.T74A|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	74	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAATAGTTCTACAAGTGAAAA	0.353												
DEPDC1B	55789	broad.mit.edu	37	5	59893631	59893631	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:59893631T>C	uc003jsh.2	-	11	1612	c.1539A>G	c.(1537-1539)GCA>GCG	p.A513A	DEPDC1B_uc011cqm.1_Silent_p.A451A|DEPDC1B_uc011cqn.1_Silent_p.A424A	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GCTTCTTTAGTGCCCACATTA	0.418												
ERCC8	1161	broad.mit.edu	37	5	60198332	60198332	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:60198332T>C	uc003jsm.3	-	7	624	c.554A>G	c.(553-555)CAC>CGC	p.H185R	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.H127R|ERCC8_uc011cqp.1_Missense_Mutation_p.H32R	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	185	WD 3.				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCTTGTCTGTGACCTGCAAA	0.338								Direct_reversal_of_damage|NER				
KIF2A	3796	broad.mit.edu	37	5	61642978	61642978	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61642978T>C	uc003jsy.3	+	2	397	c.86T>C	c.(85-87)GTA>GCA	p.V29A	KIF2A_uc003jsz.3_Missense_Mutation_p.V29A|KIF2A_uc010iwp.2_Missense_Mutation_p.V29A|KIF2A_uc003jsx.3_Missense_Mutation_p.V9A|KIF2A_uc010iwq.2_5'Flank	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	29	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CAAGCAATGGTAACATCTTTA	0.308												
DIMT1L	27292	broad.mit.edu	37	5	61694653	61694653	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61694653T>A	uc003jta.2	-	4	425	c.296A>T	c.(295-297)CAG>CTG	p.Q99L	DIMT1L_uc011cqq.1_Missense_Mutation_p.Q99L	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	99						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)		TCACGTGCCCTGAACTCTTTT	0.328												
PPWD1	23398	broad.mit.edu	37	5	64881889	64881889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:64881889G>T	uc003jtv.3	+	10	1685	c.1678G>T	c.(1678-1680)GGA>TGA	p.G560*	PPWD1_uc011cqv.1_Nonsense_Mutation_p.G530*|PPWD1_uc011cqw.1_Nonsense_Mutation_p.G404*	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	560	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATATGGGGAGGAGAATTTGA	0.408												
PPWD1	23398	broad.mit.edu	37	5	64883133	64883133	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:64883133A>G	uc003jtv.3	+	11	1858	c.1851A>G	c.(1849-1851)GAA>GAG	p.E617E	PPWD1_uc011cqv.1_Silent_p.E587E|PPWD1_uc011cqw.1_Silent_p.E461E	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat	617	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AAGGAATGGAAGTTGTACAGA	0.373												
ERBB2IP	55914	broad.mit.edu	37	5	65309420	65309420	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:65309420T>C	uc003juk.1	+	6	738	c.430T>C	c.(430-432)TAT>CAT	p.Y144H	ERBB2IP_uc003juh.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003jui.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003juj.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.Y144H|ERBB2IP_uc011cqz.1_Missense_Mutation_p.Y144H|ERBB2IP_uc010iwx.1_Missense_Mutation_p.Y144H|ERBB2IP_uc003jul.1_Missense_Mutation_p.Y144H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	144	LRR 6.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACCCAGTTGTATCTGAATGA	0.313												
ERBB2IP	55914	broad.mit.edu	37	5	65340099	65340099	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:65340099T>C	uc003juk.1	+	17	1871	c.1563T>C	c.(1561-1563)CAT>CAC	p.H521H	ERBB2IP_uc003juh.1_Silent_p.H521H|ERBB2IP_uc003jui.1_Silent_p.H521H|ERBB2IP_uc003juj.1_Silent_p.H521H|ERBB2IP_uc011cqx.1_Silent_p.H521H|ERBB2IP_uc011cqy.1_Silent_p.H521H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.H521H|ERBB2IP_uc003jul.1_Silent_p.H521H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	521					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGAAACCACATGAAGATCAAC	0.318												
MAST4	375449	broad.mit.edu	37	5	66459345	66459345	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:66459345C>T	uc003jut.1	+	28	3839	c.3771C>T	c.(3769-3771)TCC>TCT	p.S1257S	MAST4_uc003juw.2_Silent_p.S1185S|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1449						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCGTGCAGTCCGAGGAGAAGC	0.642												
PIK3R1	5295	broad.mit.edu	37	5	67576452	67576452	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:67576452T>C	uc003jva.2	+	6	1291	c.731T>C	c.(730-732)TTA>TCA	p.L244S	PIK3R1_uc003jvb.2_Missense_Mutation_p.L244S	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	244	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.?(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)	CAGTATTTGTTAAAACATTTC	0.383			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)		
MAP1B	4131	broad.mit.edu	37	5	71491781	71491781	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:71491781C>T	uc003kbw.3	+	5	2840	c.2599C>T	c.(2599-2601)CTG>TTG	p.L867L	MAP1B_uc010iyw.1_Silent_p.L884L|MAP1B_uc010iyx.1_Silent_p.L741L|MAP1B_uc010iyy.1_Silent_p.L741L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	867						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGAAACTGAAGGAAAC	0.488												
FCHO2	115548	broad.mit.edu	37	5	72313086	72313086	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:72313086T>C	uc003kcl.2	+	8	863	c.747T>C	c.(745-747)AGT>AGC	p.S249S	FCHO2_uc011csl.1_Silent_p.S216S|FCHO2_uc011csk.1_Silent_p.S249S|FCHO2_uc011csm.1_Silent_p.S55S	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	249										ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CAGTTGAAAGTTTGATACAAA	0.294												
TMEM171	134285	broad.mit.edu	37	5	72427510	72427510	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:72427510G>A	uc003kcm.2	+	4	1132	c.928G>A	c.(928-930)GCT>ACT	p.A310T	TMEM171_uc003kcn.3_Missense_Mutation_p.A309T	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	310						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAAAGAAAATGCTGCAGCTAC	0.383												
HEXB	3074	broad.mit.edu	37	5	74016518	74016518	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74016518G>C	uc003kdf.3	+	13	1676	c.1559G>C	c.(1558-1560)AGA>ACA	p.R520T	HEXB_uc003kdd.2_Missense_Mutation_p.R295T|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	520					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AAAGATGTCAGAGATATGGAT	0.428												
GFM2	84340	broad.mit.edu	37	5	74026118	74026118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74026118G>A	uc003kdh.1	-	17	1997	c.1693C>T	c.(1693-1695)CGA>TGA	p.R565*	GFM2_uc003kdi.1_Nonsense_Mutation_p.R518*|GFM2_uc010izj.1_Nonsense_Mutation_p.R597*|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	565					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATGGTCTCTCGATATGCCACC	0.368												
POC5	134359	broad.mit.edu	37	5	74981304	74981304	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:74981304C>T	uc003keh.3	-	10	1332	c.1135G>A	c.(1135-1137)GAC>AAC	p.D379N	POC5_uc010izu.2_Missense_Mutation_p.D262N|POC5_uc003keg.3_Missense_Mutation_p.D354N	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	379					cell cycle	centriole				lung(1)	1						TTTGTGGAGTCTATCCCTATA	0.378												
PDE8B	8622	broad.mit.edu	37	5	76714268	76714268	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:76714268A>G	uc003kfa.2	+	18	2171	c.2126A>G	c.(2125-2127)GAC>GGC	p.D709G	PDE8B_uc003kfb.2_Missense_Mutation_p.D689G|PDE8B_uc003kfc.2_Missense_Mutation_p.D654G|PDE8B_uc003kfd.2_Missense_Mutation_p.D662G|PDE8B_uc003kfe.2_Missense_Mutation_p.D612G	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	709	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AAGAATATTGACAGGTTTGTT	0.463												
CMYA5	202333	broad.mit.edu	37	5	79027098	79027098	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:79027098G>T	uc003kgc.2	+	2	2582	c.2510G>T	c.(2509-2511)GGC>GTC	p.G837V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	837						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGTAGACGGCAAGGAGGTC	0.458												
MSH3	4437	broad.mit.edu	37	5	80074641	80074641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80074641G>A	uc003kgz.2	+	17	2674	c.2421G>A	c.(2419-2421)TGG>TGA	p.W807*		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	807					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTGCTGAATGGCTTGATTTTC	0.373								MMR				
RASGRF2	5924	broad.mit.edu	37	5	80382666	80382666	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80382666T>C	uc003kha.1	+	9	1284	c.1284T>C	c.(1282-1284)GAT>GAC	p.D428D	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.D256D	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	428	DH.				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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAATGCACGATGAAGTCAGCG	0.468												
ZCCHC9	84240	broad.mit.edu	37	5	80600735	80600735	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80600735A>G	uc003khj.2	+	2	292	c.159A>G	c.(157-159)GCA>GCG	p.A53A	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.A53A|ZCCHC9_uc003khi.2_Silent_p.A53A	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	53							nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAAATGATGCACCCCAAGCAA	0.388												
SSBP2	23635	broad.mit.edu	37	5	80762804	80762804	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:80762804A>G	uc003kho.2	-	9	838	c.627T>C	c.(625-627)CCT>CCC	p.P209P	SSBP2_uc010jar.2_Silent_p.P97P|SSBP2_uc003khn.2_Silent_p.P83P|SSBP2_uc003khp.2_Silent_p.P217P|SSBP2_uc011ctp.1_Silent_p.P189P|SSBP2_uc011ctq.1_Silent_p.P187P|SSBP2_uc011ctr.1_Silent_p.P179P	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	209	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TGTTCATTCCAGGCATTCCAG	0.338												
LYSMD3	116068	broad.mit.edu	37	5	89815165	89815165	+	Missense_Mutation	SNP	C	C	T	rs139750200	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89815165C>T	uc003kjr.2	-	3	540	c.392G>A	c.(391-393)CGT>CAT	p.R131H	LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.T111T	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	131	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGATGAATGACGTGAAGTCTG	0.383												
GPR98	84059	broad.mit.edu	37	5	89948258	89948258	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89948258A>G	uc003kju.2	+	19	3608	c.3512A>G	c.(3511-3513)GAA>GGA	p.E1171G	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1171	Calx-beta 9.|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)		GAGTTCTATGAAACTTCAGGA	0.393												
GPR98	84059	broad.mit.edu	37	5	89979549	89979549	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89979549T>C	uc003kju.2	+	28	5907	c.5811T>C	c.(5809-5811)CCT>CCC	p.P1937P	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1937	Calx-beta 13.|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)		AGATATTGCCTGACGAAGACC	0.473												
GPR98	84059	broad.mit.edu	37	5	89992933	89992933	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:89992933A>G	uc003kju.2	+	34	8221	c.8125A>G	c.(8125-8127)ACA>GCA	p.T2709A	GPR98_uc003kjt.2_Missense_Mutation_p.T415A|GPR98_uc003kjv.2_Missense_Mutation_p.T309A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2709	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)		TAGCTTTCAGACAGCTTCCAG	0.393												
GPR98	84059	broad.mit.edu	37	5	90040924	90040924	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90040924T>A	uc003kju.2	+	51	10707	c.10611T>A	c.(10609-10611)AAT>AAA	p.N3537K	GPR98_uc003kjt.2_Missense_Mutation_p.N1243K|GPR98_uc003kjv.2_Missense_Mutation_p.N1137K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3537	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)		CGGAGCGTAATCAATTCTCTT	0.393												
GPR98	84059	broad.mit.edu	37	5	90041428	90041428	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90041428A>G	uc003kju.2	+	52	10886	c.10790A>G	c.(10789-10791)GAA>GGA	p.E3597G	GPR98_uc003kjt.2_Missense_Mutation_p.E1303G|GPR98_uc003kjv.2_Missense_Mutation_p.E1197G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3597	Calx-beta 23.|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)		CTGATATTTGAACCTGGTGAG	0.313												
GPR98	84059	broad.mit.edu	37	5	90261245	90261245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90261245C>T	uc003kju.2	+	84	17966	c.17870C>T	c.(17869-17871)GCG>GTG	p.A5957V	GPR98_uc003kjt.2_Missense_Mutation_p.A3663V|GPR98_uc003kjw.2_Missense_Mutation_p.A1618V|GPR98_uc003kjx.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5957	Helical; (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)		CTGTTTCTGGCGTCTGCATAC	0.383												
FAM81B	153643	broad.mit.edu	37	5	94772530	94772530	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:94772530A>G	uc003kla.1	+	7	859	c.813A>G	c.(811-813)GAA>GAG	p.E271E	FAM81B_uc010jbe.1_Silent_p.E67E	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	hypothetical protein LOC153643	271										ovary(1)|skin(1)	2		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GAAAGATAGAAACTGCCAGTC	0.388												
ELL2	22936	broad.mit.edu	37	5	95234064	95234064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:95234064G>A	uc003klr.3	-	8	1755	c.1405C>T	c.(1405-1407)CAT>TAT	p.H469Y		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	469					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTCCTTATGTTTTTTAGAC	0.378												
ELL2	22936	broad.mit.edu	37	5	95249542	95249542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:95249542C>T	uc003klr.3	-	4	764	c.414G>A	c.(412-414)ATG>ATA	p.M138I		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	138					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTGCCTGGGTCATTCTTTCTC	0.448												
LNPEP	4012	broad.mit.edu	37	5	96322246	96322246	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:96322246T>C	uc003kmv.1	+	4	1517	c.1003T>C	c.(1003-1005)TCA>CCA	p.S335P	LNPEP_uc003kmw.1_Missense_Mutation_p.S321P	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	335	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTGTAGAAGTCATCAGTCGT	0.368												
LNPEP	4012	broad.mit.edu	37	5	96332172	96332172	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:96332172T>C	uc003kmv.1	+	7	2000	c.1486T>C	c.(1486-1488)TTC>CTC	p.F496L	LNPEP_uc003kmw.1_Missense_Mutation_p.F482L	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	496	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CATGGAGTATTTCTCTTTGGA	0.378												
PPIP5K2	23262	broad.mit.edu	37	5	102508909	102508909	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:102508909T>C	uc003kod.3	+	20	2856	c.2337T>C	c.(2335-2337)TGT>TGC	p.C779C	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.C779C|PPIP5K2_uc003kof.2_Silent_p.C80C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	779					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						AAGGCTACTGTACTCCTCTGG	0.353												
CAMK4	814	broad.mit.edu	37	5	110710600	110710600	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:110710600A>G	uc011cvj.1	+	4	392	c.293A>G	c.(292-294)CAT>CGT	p.H98R	CAMK4_uc003kpf.2_Missense_Mutation_p.H98R|CAMK4_uc010jbv.2_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	98	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CGCCTCTCACATCCAAACATT	0.388												
APC	324	broad.mit.edu	37	5	112176653	112176653	+	Missense_Mutation	SNP	C	C	T	rs140073303		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:112176653C>T	uc010jby.2	+	16	5742	c.5362C>T	c.(5362-5364)CGT>TGT	p.R1788C	APC_uc011cvt.1_Missense_Mutation_p.R1770C|APC_uc003kpz.3_Missense_Mutation_p.R1788C|APC_uc003kpy.3_Missense_Mutation_p.R1788C|APC_uc010jbz.2_Missense_Mutation_p.R1505C|APC_uc010jca.2_Missense_Mutation_p.R1088C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1788	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.K1192fs*3(1)|p.?(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)		ATATAGGACACGTGTAAGAAA	0.318		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)		
FTMT	94033	broad.mit.edu	37	5	121187847	121187847	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:121187847C>T	uc003kss.2	+	1	198	c.189C>T	c.(187-189)GCC>GCT	p.A63A		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	63					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCGCCGCCGGCCCCTCTC	0.726												
PPIC	5480	broad.mit.edu	37	5	122365031	122365031	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122365031A>G	uc003kth.2	-	2	305	c.200T>C	c.(199-201)GTG>GCG	p.V67A	PPIC_uc011cwp.1_Missense_Mutation_p.V67A	NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	67	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AAAATTTTCCACTGTCTTGGG	0.388												
CEP120	153241	broad.mit.edu	37	5	122708465	122708465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122708465A>G	uc003ktk.2	-	18	2442	c.2360T>C	c.(2359-2361)CTT>CCT	p.L787P	CEP120_uc011cwq.1_Missense_Mutation_p.L596P	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	787	Potential.					centrosome				ovary(1)	1						AGCATCATTAAGCTGTATTAA	0.289												
CEP120	153241	broad.mit.edu	37	5	122729096	122729096	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:122729096A>G	uc003ktk.2	-	7	790	c.708T>C	c.(706-708)AAT>AAC	p.N236N	CEP120_uc011cwq.1_Silent_p.N45N|CEP120_uc010jcz.1_Silent_p.N210N	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	236						centrosome				ovary(1)	1						TGATTAAATCATTGAAGGGTT	0.388												
ZNF608	57507	broad.mit.edu	37	5	123984436	123984436	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:123984436G>A	uc003ktq.1	-	4	1764	c.1641C>T	c.(1639-1641)TGC>TGT	p.C547C	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.C547C|ZNF608_uc003ktt.1_Silent_p.C547C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	547						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGAGAAGAGCAGCCTTGGT	0.502												
PHAX	51808	broad.mit.edu	37	5	125936659	125936659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:125936659C>T	uc003kua.1	+	1	27	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	2	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						GGGAAGATGGCGTTGGAGGTC	0.692												
SLC12A2	6558	broad.mit.edu	37	5	127486967	127486967	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:127486967G>C	uc003kus.2	+	14	2306	c.2142G>C	c.(2140-2142)TGG>TGC	p.W714C	SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.W714C	NM_001046	NP_001037	P55011	S12A2_HUMAN	solute carrier family 12	714	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.W714C(1)		ovary(3)	3		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACAACATGTGGATATCACTTC	0.363												
FBN2	2201	broad.mit.edu	37	5	127686661	127686661	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:127686661T>A	uc003kuu.2	-	21	3150	c.2711A>T	c.(2710-2712)GAC>GTC	p.D904V	FBN2_uc003kuv.2_Missense_Mutation_p.D871V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	904	TB 4.				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)		ACAGCGGCTGTCCTGGATGTT	0.527												
FNIP1	96459	broad.mit.edu	37	5	131008113	131008113	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:131008113T>A	uc003kvs.1	-	14	2166	c.2024A>T	c.(2023-2025)GAC>GTC	p.D675V	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D647V|FNIP1_uc010jdm.1_Missense_Mutation_p.D630V	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	675					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TAACTTGGCGTCAAAGCAAGT	0.413												
DDX46	9879	broad.mit.edu	37	5	134099624	134099624	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134099624T>C	uc003kzw.2	+	2	216	c.48T>C	c.(46-48)GGT>GGC	p.G16G	DDX46_uc003kzv.1_RNA	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	16	Arg-rich.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCCCGGGGTCGCTCTGGAA	0.423												
TXNDC15	79770	broad.mit.edu	37	5	134235275	134235275	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134235275T>C	uc003lac.1	+	5	1641	c.983T>C	c.(982-984)TTT>TCT	p.F328S	TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	328	Helical; (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTTGTATTTTCCTTATTC	0.408												
H2AFY	9555	broad.mit.edu	37	5	134724776	134724776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:134724776C>T	uc003lam.1	-	2	218	c.8G>A	c.(7-9)AGC>AAC	p.S3N	H2AFY_uc003lao.1_Missense_Mutation_p.S3N|H2AFY_uc003lan.1_Missense_Mutation_p.S3N|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.S3N|H2AFY_uc003las.1_Missense_Mutation_p.S3N|H2AFY_uc003lat.1_Missense_Mutation_p.S3N	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	3	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCACCGCGGCTCGACATGGC	0.617												
BRD8	10902	broad.mit.edu	37	5	137498869	137498869	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137498869C>G	uc003lcf.1	-	15	2092	c.2037G>C	c.(2035-2037)CAG>CAC	p.Q679H	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.Q458H|BRD8_uc003lcg.2_Missense_Mutation_p.Q752H|BRD8_uc003lci.2_Missense_Mutation_p.Q682H|BRD8_uc003lch.2_Missense_Mutation_p.Q573H|BRD8_uc011cym.1_Missense_Mutation_p.Q663H|BRD8_uc010jer.1_Missense_Mutation_p.Q648H|BRD8_uc011cyn.1_Missense_Mutation_p.Q638H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	679					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGTGTGTGACTGCAGTGTAG	0.493												
HSPA9	3313	broad.mit.edu	37	5	137892147	137892147	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137892147G>A	uc003ldf.2	-	16	2064	c.1956C>T	c.(1954-1956)TAC>TAT	p.Y652Y	HSPA9_uc003lde.2_Silent_p.Y69Y	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	652					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTACCTTTTTGTATGCCATTT	0.463												
HSPA9	3313	broad.mit.edu	37	5	137895576	137895576	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137895576T>C	uc003ldf.2	-	11	1495	c.1387A>G	c.(1387-1389)ACT>GCT	p.T463A	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Missense_Mutation_p.T394A	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	463					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGGAATAGTGGTATTCCTA	0.458												
PCDHA4	56144	broad.mit.edu	37	5	140188485	140188485	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140188485T>C	uc003lhi.2	+	1	1814	c.1713T>C	c.(1711-1713)GGT>GGC	p.G571G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G571G|PCDHA4_uc011daa.1_Silent_p.G571G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	571	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGGCGGGTGGCACTGGTG	0.677												
PCDHA6	56142	broad.mit.edu	37	5	140209434	140209434	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140209434T>C	uc003lho.2	+	1	1785	c.1758T>C	c.(1756-1758)GGT>GGC	p.G586G	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_uc011dab.1_Silent_p.G586G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	586	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGGGTGCAGGCCAAG	0.672												
PCDHA7	56141	broad.mit.edu	37	5	140216142	140216142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140216142C>T	uc003lhq.2	+	1	2174	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	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_uc011dac.1_Missense_Mutation_p.A725V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	725	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCAGCGCCGTCCTCT	0.617												
PCDHA8	56140	broad.mit.edu	37	5	140221050	140221050	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140221050C>T	uc003lhs.2	+	1	144	c.144C>T	c.(142-144)ATC>ATT	p.I48I	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_uc003lhr.1_Silent_p.I48I	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	48	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657												
PCDHAC1	56135	broad.mit.edu	37	5	140308328	140308328	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140308328G>A	uc003lih.2	+	1	2027	c.1851G>A	c.(1849-1851)GAG>GAA	p.E617E	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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.E617E	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517												
PCDHAC1	56135	broad.mit.edu	37	5	140308672	140308672	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140308672T>C	uc003lih.2	+	1	2371	c.2195T>C	c.(2194-2196)GTT>GCT	p.V732A	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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.V732A	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	732	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTAAGATGGTTTCAAATCCT	0.478												
PCDHB1	29930	broad.mit.edu	37	5	140431696	140431696	+	Missense_Mutation	SNP	C	C	T	rs144200490	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140431696C>T	uc003lik.1	+	1	718	c.641C>T	c.(640-642)GCG>GTG	p.A214V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	214	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATTACGGCGGTGGACGGC	0.597												
PCDHB2	56133	broad.mit.edu	37	5	140475265	140475265	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140475265T>C	uc003lil.2	+	1	1029	c.891T>C	c.(889-891)AGT>AGC	p.S297S	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	297	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGATTAAGTGCAAAATCGG	0.423												
PCDHB8	56128	broad.mit.edu	37	5	140558614	140558614	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140558614C>T	uc011dai.1	+	1	1185	c.999C>T	c.(997-999)ACC>ACT	p.T333T	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	333	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAATGCACCGTTCTGATTC	0.433												
PCDHB11	56125	broad.mit.edu	37	5	140580953	140580953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140580953C>T	uc003liy.2	+	1	1606	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	PCDHB11_uc011daj.1_Missense_Mutation_p.R171C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	536	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGCGGCTCCCC	0.667												
PCDHB14	56122	broad.mit.edu	37	5	140603462	140603462	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140603462C>T	uc003ljb.2	+	1	385	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	PCDHB14_uc011dal.1_Intron	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	129	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.H129L(1)		ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAAATGATCACTCCCCTAC	0.418												
PCDHB15	56121	broad.mit.edu	37	5	140626780	140626780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140626780C>T	uc003lje.2	+	1	1634	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	545	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGA	0.697												
PCDHGB3	56102	broad.mit.edu	37	5	140750900	140750900	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140750900T>A	uc003ljw.1	+	1	939	c.939T>A	c.(937-939)GAT>GAA	p.D313E	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.D313E|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	313	Extracellular (Potential).|Cadherin 3.				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)			AAGAGAGAGATAGCTACACAA	0.433												
PCDHGA6	56109	broad.mit.edu	37	5	140754314	140754314	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140754314C>T	uc003ljy.1	+	1	664	c.664C>T	c.(664-666)CGC>TGC	p.R222C	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_uc011dau.1_Missense_Mutation_p.R222C	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	222	Extracellular (Potential).|Cadherin 2.				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)			CGACCCTGTCCGCTCAAGCGT	0.552												
PCDHGA7	56108	broad.mit.edu	37	5	140762574	140762574	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140762574G>A	uc003lka.1	+	1	108	c.108G>A	c.(106-108)TCG>TCA	p.S36S	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_Silent_p.S36S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	36	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)			ACTCCGTGTCGGAGGAGACGG	0.647												
PCDHGA7	56108	broad.mit.edu	37	5	140763137	140763137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140763137G>A	uc003lka.1	+	1	671	c.671G>A	c.(670-672)AGC>AAC	p.S224N	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.S224N	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	224	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)			CCCCGATCCAGCACCGCCCAC	0.622												
PCDHGB4	8641	broad.mit.edu	37	5	140769136	140769136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140769136A>G	uc003lkc.1	+	1	1685	c.1685A>G	c.(1684-1686)TAC>TGC	p.Y562C	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_uc011dav.1_Missense_Mutation_p.Y562C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	562	Extracellular (Potential).				calcium-dependent cell-cell adhesion|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)			CGGGTGCTGTACCCCGCGCTG	0.672												
PCDHGA8	9708	broad.mit.edu	37	5	140772809	140772809	+	Silent	SNP	C	C	T	rs151037104	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140772809C>T	uc003lkd.1	+	1	1327	c.429C>T	c.(427-429)AAC>AAT	p.N143N	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_uc003lkb.3_Silent_p.N143N	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	143	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)			TAAAAATTAACGAAATCGCGG	0.443												
PCDHGB7	56099	broad.mit.edu	37	5	140797939	140797939	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140797939A>C	uc003lkn.1	+	1	658	c.513A>C	c.(511-513)CAA>CAC	p.Q171H	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_uc003lkm.2_Missense_Mutation_p.Q171H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	171	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAATACCAACTAAGTCCTA	0.418												
PCDHGA12	26025	broad.mit.edu	37	5	140811036	140811036	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140811036A>G	uc003lkt.1	+	1	879	c.710A>G	c.(709-711)GAC>GGC	p.D237G	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_uc011dba.1_Missense_Mutation_p.D237G	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	237	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGAACGACAACGCACCA	0.652												
PCDHGA12	26025	broad.mit.edu	37	5	140811779	140811779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140811779G>A	uc003lkt.1	+	1	1622	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	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_uc011dba.1_Missense_Mutation_p.A485T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGAGAACGCCCAGATCAC	0.557												
PCDHGA12	26025	broad.mit.edu	37	5	140812627	140812627	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140812627C>G	uc003lkt.1	+	1	2470	c.2301C>G	c.(2299-2301)CAC>CAG	p.H767Q	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_uc011dba.1_Missense_Mutation_p.H767Q	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	767	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAGTCACCTGATCTTCC	0.572												
PCDHGC4	56098	broad.mit.edu	37	5	140867053	140867053	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140867053C>T	uc003lky.1	+	1	2313	c.2313C>T	c.(2311-2313)GGC>GGT	p.G771G	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_Silent_p.G771G|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	771	Cytoplasmic (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)			ACTCTCATGGCTGTACACCCT	0.572												
FCHSD1	89848	broad.mit.edu	37	5	141021298	141021298	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:141021298G>T	uc003llk.2	-	19	2029	c.1978C>A	c.(1978-1980)CTG>ATG	p.L660M	FCHSD1_uc010jgg.2_Missense_Mutation_p.L343M|FCHSD1_uc003llj.2_RNA	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	660	Pro-rich.								FCHSD1/BRAF(2)	skin(2)|ovary(1)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCATGTCCAGGAACCCAGGG	0.418												
ARAP3	64411	broad.mit.edu	37	5	141035786	141035786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:141035786G>A	uc003llm.2	-	28	3925	c.3847C>T	c.(3847-3849)CGC>TGC	p.R1283C	ARAP3_uc003lll.2_Missense_Mutation_p.R234C|ARAP3_uc011dbe.1_Missense_Mutation_p.R945C|ARAP3_uc003lln.2_Missense_Mutation_p.R1114C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1283	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						AACTTCTTGCGGATTCCCAGG	0.557												
HMHB1	57824	broad.mit.edu	37	5	143200049	143200049	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:143200049T>C	uc003lnj.2	+	2	149	c.42T>C	c.(40-42)TCT>TCC	p.S14S		NM_021182	NP_067005	O97980	HMHB1_HUMAN	minor histocompatibility antigen HB-1	14	Loss of recognition by cytotoxic T lymphocyte (CTL).			S->A: Complete loss of CTL recognition.							0		Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTATAGGTTCTCTGCATGTTT	0.393												
SH3RF2	153769	broad.mit.edu	37	5	145442254	145442254	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145442254C>A	uc003lnt.2	+	10	2418	c.2180C>A	c.(2179-2181)CCC>CAC	p.P727H	SH3RF2_uc011dbl.1_Missense_Mutation_p.P727H|SH3RF2_uc003lnu.2_Missense_Mutation_p.P218H|SH3RF2_uc011dbn.1_Missense_Mutation_p.P218H|SH3RF2_uc011dbo.1_Missense_Mutation_p.P184H	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	727							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGTGTTTCCCAGCAAATGA	0.557												
RBM27	54439	broad.mit.edu	37	5	145613207	145613207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145613207C>T	uc003lnz.3	+	7	1211	c.1045C>T	c.(1045-1047)CCA>TCA	p.P349S	RBM27_uc003lny.2_Missense_Mutation_p.P349S	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	349	Pro-rich.				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)			aggtccaggcccaggcccggg	0.393												
GPR151	134391	broad.mit.edu	37	5	145894652	145894652	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:145894652T>C	uc003lod.1	-	1	1025	c.1025A>G	c.(1024-1026)AAC>AGC	p.N342S		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	342	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTCTGAGTTGCCAGCTGG	0.483												
JAKMIP2	9832	broad.mit.edu	37	5	147024501	147024501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:147024501C>T	uc003loq.1	-	6	1377	c.995G>A	c.(994-996)TGC>TAC	p.C332Y	JAKMIP2_uc011dbx.1_Missense_Mutation_p.C290Y|JAKMIP2_uc003lor.1_Missense_Mutation_p.C332Y|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.C332Y	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	332	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCGAGGCACTTGTTCCT	0.443												
SH3TC2	79628	broad.mit.edu	37	5	148406227	148406227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:148406227C>T	uc003lpu.2	-	12	3113	c.2961G>A	c.(2959-2961)TGG>TGA	p.W987*	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Nonsense_Mutation_p.W631*|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Nonsense_Mutation_p.W534*|SH3TC2_uc010jgx.2_Nonsense_Mutation_p.W980*|SH3TC2_uc003lpv.1_Missense_Mutation_p.G570D|SH3TC2_uc011dbz.1_Missense_Mutation_p.G908D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	987							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGCCAGCCAGTGCTCAT	0.572												
PDE6A	5145	broad.mit.edu	37	5	149265935	149265935	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149265935C>T	uc003lrg.3	-	14	1851	c.1731G>A	c.(1729-1731)ACG>ACA	p.T577T		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	577					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCAGCTTTCCCGTCTGGAAGG	0.527												
PDGFRB	5159	broad.mit.edu	37	5	149513540	149513540	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149513540C>T	uc003lro.2	-	5	1132	c.663G>A	c.(661-663)GTG>GTA	p.V221V	PDGFRB_uc010jhd.2_Silent_p.V60V|PDGFRB_uc011dcg.1_Silent_p.V221V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	221	Extracellular (Potential).|Ig-like C2-type 3.				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)	CCACAGTCTGCACTGCGTTCA	0.527			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
TCOF1	6949	broad.mit.edu	37	5	149759253	149759253	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:149759253A>G	uc003lry.2	+	17	2925	c.2817A>G	c.(2815-2817)TCA>TCG	p.S939S	TCOF1_uc003lrw.2_Silent_p.S939S|TCOF1_uc011dch.1_Silent_p.S939S|TCOF1_uc003lrz.2_Silent_p.S939S|TCOF1_uc003lrx.2_Silent_p.S862S|TCOF1_uc003lsa.2_Silent_p.S862S|TCOF1_uc011dci.1_Silent_p.S368S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	939					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGAGGAATCAGACAGTGATG	0.627												
NMUR2	56923	broad.mit.edu	37	5	151784146	151784146	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:151784146A>C	uc003luv.2	-	1	695	c.529T>G	c.(529-531)TTC>GTC	p.F177V		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	177	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCAGGGAGAAGAGCACGGAG	0.632												
HAND1	9421	broad.mit.edu	37	5	153857288	153857288	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:153857288C>T	uc003lvn.2	-	1	537	c.281G>A	c.(280-282)CGG>CAG	p.R94Q		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	94	Basic motif.				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCTTTCCGCCGGCCAAGACG	0.632												
LARP1	23367	broad.mit.edu	37	5	154179464	154179464	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:154179464C>T	uc003lvp.2	+	10	2007	c.1578C>T	c.(1576-1578)ACC>ACT	p.T526T	LARP1_uc003lvo.2_Silent_p.T449T|LARP1_uc010jie.1_Silent_p.T321T	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	526							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCAGTCACCCCAGTGCCAA	0.577												
GEMIN5	25929	broad.mit.edu	37	5	154281007	154281007	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:154281007G>C	uc003lvx.3	-	21	2989	c.2906C>G	c.(2905-2907)GCC>GGC	p.A969G	GEMIN5_uc011ddk.1_Missense_Mutation_p.A968G	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	969					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTGTTTGGCAAAAGCTTC	0.418												
TIMD4	91937	broad.mit.edu	37	5	156375481	156375481	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156375481A>G	uc003lwh.2	-	5	847	c.790T>C	c.(790-792)TCC>CCC	p.S264P	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	264	Ser-rich.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACACGTGGGATGTTGATGGG	0.383												
HAVCR1	26762	broad.mit.edu	37	5	156479583	156479583	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156479583C>T	uc010jij.1	-	4	647	c.462G>A	c.(460-462)ACG>ACA	p.T154T	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Silent_p.T154T|HAVCR1_uc011ddm.1_Silent_p.T154T	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	154	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Extracellular (Potential).|3.|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTTGTCGTTG	0.473												
NIPAL4	348938	broad.mit.edu	37	5	156899400	156899400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:156899400C>T	uc003lwx.3	+	6	949	c.833C>T	c.(832-834)GCC>GTC	p.A278V	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.A259V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	278	Helical; (Potential).					integral to membrane	receptor activity				0						TTTGTCATTGCCCCACGTTAC	0.532											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTC1	7265	broad.mit.edu	37	5	159437849	159437849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159437849C>T	uc003lxu.2	+	2	364	c.314C>T	c.(313-315)TCG>TTG	p.S105L		NM_003314	NP_003305	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	105					protein folding		unfolded protein binding			skin(1)	1	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AAAAACATGTCGGATGAAGAG	0.378												
C1QTNF2	114898	broad.mit.edu	37	5	159797639	159797639	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159797639T>C	uc003lyd.2	-	1	10	c.6A>G	c.(4-6)GGA>GGG	p.G2G		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	Error:Variant_position_missing_in_Q9BXJ5_after_alignment						collagen				skin(1)	1	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)			GGCATAGTTTTCCCATCCCGT	0.642												
PTTG1	9232	broad.mit.edu	37	5	159849801	159849801	+	Silent	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:159849801T>G	uc003lyj.2	+	3	222	c.177T>G	c.(175-177)GCT>GCG	p.A59A	PTTG1_uc003lyk.2_Silent_p.A59A	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	59					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)		TACCTAAAGCTACTAGAAAGG	0.443												
GABRG2	2566	broad.mit.edu	37	5	161522510	161522510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:161522510C>T	uc003lyz.3	+	3	627	c.269C>T	c.(268-270)ACG>ATG	p.T90M	GABRG2_uc010jjc.2_Missense_Mutation_p.T90M|GABRG2_uc003lyy.3_Missense_Mutation_p.T90M|GABRG2_uc011dej.1_Translation_Start_Site	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	90	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTGAAGCCAACGTTAATTCAC	0.323												
ODZ2	57451	broad.mit.edu	37	5	167674786	167674786	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:167674786A>G	uc010jjd.2	+	27	6815	c.6815A>G	c.(6814-6816)AAT>AGT	p.N2272S	ODZ2_uc003lzr.3_Missense_Mutation_p.N2042S|ODZ2_uc003lzt.3_Missense_Mutation_p.N1645S|ODZ2_uc010jje.2_Missense_Mutation_p.N1536S	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTCGAATACAATTCCAAGGGC	0.537												
TLX3	30012	broad.mit.edu	37	5	170736691	170736691	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:170736691C>T	uc003mbf.2	+	1	404	c.322C>T	c.(322-324)CTA>TTA	p.L108L	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAAGCGCGCTACCCGCCAT	0.682			T	BCL11B	T-ALL							
FBXW11	23291	broad.mit.edu	37	5	171384609	171384609	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171384609A>G	uc003mbm.1	-	2	510	c.139T>C	c.(139-141)TGT>CGT	p.C47R	FBXW11_uc011dey.1_Intron|FBXW11_uc003mbl.1_Intron|FBXW11_uc003mbn.1_Intron	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	47					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.N260_I262(1)		ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCTGGAGACATCTGACACTG	0.473												
STK10	6793	broad.mit.edu	37	5	171509453	171509453	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171509453C>T	uc003mbo.1	-	12	2166	c.1866G>A	c.(1864-1866)CAG>CAA	p.Q622Q		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	622	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)			TCTCCACTTGCTGCTTTTGCT	0.542												
SH3PXD2B	285590	broad.mit.edu	37	5	171765730	171765730	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:171765730G>A	uc003mbr.2	-	13	2550	c.2379C>T	c.(2377-2379)ACC>ACT	p.T793T		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	793	Pro-rich.				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)			CACGGCCTGGGGTGGGAGCTG	0.612												
MSX2	4488	broad.mit.edu	37	5	174156417	174156417	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:174156417C>T	uc003mcy.2	+	2	723	c.635C>T	c.(634-636)GCA>GTA	p.A212V		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	212					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAATGGCTGCAAAACCTATG	0.542												
ARL10	285598	broad.mit.edu	37	5	175793505	175793505	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175793505G>A	uc003mec.1	+	2	371	c.306G>A	c.(304-306)CCG>CCA	p.P102P	ARL10_uc003meb.2_Silent_p.P102P|MIR1271_hsa-mir-1271|MI0003814_5'Flank	NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	102							GTP binding			ovary(1)	1	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGAAGCCACCGCTGGAAGGCC	0.652												
ARL10	285598	broad.mit.edu	37	5	175798761	175798761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175798761C>T	uc003mec.1	+	4	663	c.598C>T	c.(598-600)CGG>TGG	p.R200W		NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	200							GTP binding			ovary(1)	1	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGAGCTGCAGCGGGAGCTGGG	0.587												
RNF44	22838	broad.mit.edu	37	5	175958479	175958479	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:175958479G>A	uc003mek.1	-	4	975	c.450C>T	c.(448-450)TGC>TGT	p.C150C	RNF44_uc011dfo.1_Silent_p.C58C|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	ring finger protein 44	150	Pro-rich.						zinc ion binding				0	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGAGGCAGCAGAGGGGGT	0.662												
UNC5A	90249	broad.mit.edu	37	5	176306317	176306317	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176306317A>G	uc003mey.2	+	14	2383	c.2191A>G	c.(2191-2193)AGG>GGG	p.R731G		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	731	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGACACAAGGTTTGCTGA	0.627												
NSD1	64324	broad.mit.edu	37	5	176707797	176707797	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176707797C>T	uc003mfr.3	+	18	5992	c.5854C>T	c.(5854-5856)CGG>TGG	p.R1952W	NSD1_uc003mft.3_Missense_Mutation_p.R1683W|NSD1_uc003mfs.1_Missense_Mutation_p.R1849W|NSD1_uc011dfx.1_Missense_Mutation_p.R1600W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET.			R->W: Nearly abolished enzyme activity.	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACATTACAGCGGGGTTGGGG	0.448			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
F12	2161	broad.mit.edu	37	5	176832994	176832994	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176832994T>C	uc003mgo.3	-	3	233	c.184A>G	c.(184-186)ACC>GCC	p.T62A	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_RNA	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	62	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity				0	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)			CCCTTGTGGGTACATTTGTGG	0.607									Hereditary_Angioedema			
PDLIM7	9260	broad.mit.edu	37	5	176911090	176911090	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176911090G>A	uc003mhc.1	-	11	1237	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	PDLIM7_uc003mha.1_Silent_p.G278G|PDLIM7_uc003mhb.1_Silent_p.G350G|PDLIM7_uc003mhd.1_Silent_p.G236G|PDLIM7_uc003mhe.1_RNA	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	384	LIM zinc-binding 2.				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(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)			AATAGGGCACGCCCTCCTCCA	0.602												
FAM193B	54540	broad.mit.edu	37	5	176952098	176952098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176952098G>A	uc003mhs.3	-	8	2874	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W	FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.R88W|FAM193B_uc003mhu.2_Missense_Mutation_p.R141W|FAM193B_uc003mhv.2_Missense_Mutation_p.R88W|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	462											0						TCCAGTTCCCGGTCGGGCCAC	0.577												
TMED9	54732	broad.mit.edu	37	5	177020670	177020670	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:177020670A>G	uc003mhx.2	+	3	308	c.305A>G	c.(304-306)TAT>TGT	p.Y102C	TMED9_uc010jko.2_RNA	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain	102	GOLD.|Lumenal (Potential).			Y -> C (in Ref. 3; AAL35268).	transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane					0	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)			GCCCGGCAGTATGGCTCCGAG	0.517												
HNRNPAB	3182	broad.mit.edu	37	5	177632889	177632889	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:177632889T>G	uc003miu.2	+	3	513	c.256T>G	c.(256-258)TTA>GTA	p.L86V	HNRNPAB_uc003miv.2_Missense_Mutation_p.L86V|HNRNPAB_uc010jks.2_Missense_Mutation_p.L86V|HNRNPAB_uc003miw.2_Missense_Mutation_p.L86V|HNRNPAB_uc003mix.2_Missense_Mutation_p.L86V	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	85	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						CAAAAAAGATTTAAAAGACTA	0.408												
ZNF354B	117608	broad.mit.edu	37	5	178311048	178311048	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178311048G>A	uc003mjl.2	+	5	1821	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	ZNF354B_uc003mjm.2_Missense_Mutation_p.G532D	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	532	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			ATGTCTTTTGGCCAAAGTGCA	0.368												
ZNF354C	30832	broad.mit.edu	37	5	178506355	178506355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178506355G>A	uc003mju.2	+	5	1037	c.922G>A	c.(922-924)GCC>ACC	p.A308T		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	308	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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;0.247)		ATGTGGTAAAGCCTTTAGCCA	0.428												
ADAMTS2	9509	broad.mit.edu	37	5	178541014	178541014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:178541014G>A	uc003mjw.2	-	22	3490	c.3490C>T	c.(3490-3492)CCC>TCC	p.P1164S	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1164					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)		ATTTTGTAGGGTTCATCTACG	0.547												
TRIM41	90933	broad.mit.edu	37	5	180651147	180651147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:180651147G>A	uc003mne.1	+	1	842	c.148G>A	c.(148-150)GGG>AGG	p.G50R	uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.G50R|TRIM41_uc003mnd.1_Missense_Mutation_p.G50R|TRIM41_uc003mnf.1_RNA	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	50	RING-type.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			GTTGTGGGGTGGGGAGGATGA	0.498												
FOXC1	2296	broad.mit.edu	37	6	1611083	1611083	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:1611083T>C	uc003mtp.2	+	1	403	c.403T>C	c.(403-405)TGC>CGC	p.C135R		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	forkhead box C1	135	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCTCAACGAGTGCTTCGTCAA	0.597												
MYLK4	340156	broad.mit.edu	37	6	2683360	2683360	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:2683360A>G	uc003mty.3	-	7	879	c.582T>C	c.(580-582)GAT>GAC	p.D194D		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	194	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGTAGCTCTCATCGATGATGC	0.493												
FAM50B	26240	broad.mit.edu	37	6	3850929	3850929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:3850929G>A	uc003mvu.2	+	2	996	c.884G>A	c.(883-885)CGC>CAC	p.R295H		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	295						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTGGTGCTGCGCAGCTGGTAC	0.627												
PRPF4B	8899	broad.mit.edu	37	6	4044165	4044165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4044165C>T	uc003mvv.2	+	6	1860	c.1769C>T	c.(1768-1770)GCT>GTT	p.A590V	PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	590						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CGAGTAGCTGCTGATGTTAAA	0.448												
PRPF4B	8899	broad.mit.edu	37	6	4060797	4060797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4060797C>T	uc003mvv.2	+	15	3062	c.2971C>T	c.(2971-2973)CGA>TGA	p.R991*	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	991	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCAGCTAAACGAATTAGCAT	0.433												
CDYL	9425	broad.mit.edu	37	6	4892220	4892220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:4892220G>A	uc003mwi.2	+	4	591	c.460G>A	c.(460-462)GTG>ATG	p.V154M	CDYL_uc003mwj.2_Missense_Mutation_p.V100M|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Translation_Start_Site|CDYL_uc011dhy.1_Translation_Start_Site	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	154					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TAAGGCACTCGTGATTGGGAA	0.483												
RREB1	6239	broad.mit.edu	37	6	7229890	7229890	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7229890G>A	uc003mxc.2	+	10	1948	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	RREB1_uc003mxb.2_Missense_Mutation_p.A520T|RREB1_uc010jnx.2_Missense_Mutation_p.A520T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	520	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACGGTGGTGGCCACCTCCAC	0.682												
RREB1	6239	broad.mit.edu	37	6	7231588	7231588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7231588G>A	uc003mxc.2	+	10	3646	c.3256G>A	c.(3256-3258)GTG>ATG	p.V1086M	RREB1_uc003mxb.2_Missense_Mutation_p.V1086M|RREB1_uc010jnx.2_Missense_Mutation_p.V1086M	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1086					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAAACCAAGGTGGCGGACCC	0.637												
SNRNP48	154007	broad.mit.edu	37	6	7606326	7606326	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7606326C>T	uc003mxr.2	+	8	928	c.869C>T	c.(868-870)GCT>GTT	p.A290V	SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_Missense_Mutation_p.A42V	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	290					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						TATTTGGATGCTGAGTGTTCA	0.393												
TXNDC5	81567	broad.mit.edu	37	6	7904900	7904900	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7904900T>C	uc003mxv.2	-	2	352	c.320A>G	c.(319-321)AAC>AGC	p.N107S	TXNDC5_uc003mxw.2_Missense_Mutation_p.N64S|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 1	107	Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)					TTCCATGCTGTTGTATTTGTC	0.552												
EEF1E1	9521	broad.mit.edu	37	6	8090483	8090483	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:8090483T>C	uc003mxz.2	-	3	394	c.320A>G	c.(319-321)TAC>TGC	p.Y107C	EEF1E1_uc011dic.1_Missense_Mutation_p.Y107C	NM_004280	NP_004271	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1	107	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus					0	Ovarian(93;0.0398)					CCCTGTAAGGTAGACTTTATC	0.249												
HIVEP1	3096	broad.mit.edu	37	6	12120215	12120215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:12120215C>T	uc003nac.2	+	4	366	c.187C>T	c.(187-189)CCA>TCA	p.P63S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	63					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAAAAAATACCAAAATCCCC	0.398												
PHACTR1	221692	broad.mit.edu	37	6	13283685	13283685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13283685G>A	uc010jpc.2	+	13	1873	c.1541G>A	c.(1540-1542)CGG>CAG	p.R514Q	PHACTR1_uc003nah.1_Missense_Mutation_p.R514Q|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	514	RPEL 4.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGAGCTTCGGGAAAGAAAG	0.592												
TBC1D7	51256	broad.mit.edu	37	6	13306708	13306708	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13306708A>G	uc003naj.2	-	7	808	c.717T>C	c.(715-717)GCT>GCC	p.A239A	TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Silent_p.A239A|TBC1D7_uc003nal.2_Silent_p.A239A|TBC1D7_uc003nam.2_Silent_p.A239A|TBC1D7_uc003nao.2_Silent_p.A212A|TBC1D7_uc010jpd.2_Silent_p.A193A|TBC1D7_uc003nap.2_3'UTR	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	239					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AAATTTCGACAGCTACAAAAA	0.308												
GFOD1	54438	broad.mit.edu	37	6	13365792	13365792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:13365792C>T	uc003nat.1	-	2	1021	c.356G>A	c.(355-357)GGC>GAC	p.G119D	GFOD1_uc003nas.1_Missense_Mutation_p.G16D	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	119						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CAGCACGTTGCCCATGATGCT	0.647												
JARID2	3720	broad.mit.edu	37	6	15496925	15496925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:15496925C>T	uc003nbj.2	+	7	1713	c.1469C>T	c.(1468-1470)CCG>CTG	p.P490L	JARID2_uc011diu.1_Missense_Mutation_p.P354L|JARID2_uc011div.1_Missense_Mutation_p.P318L|JARID2_uc011diw.1_Missense_Mutation_p.P452L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	490					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGGAAGTGCCGGAGCGCAGT	0.662												
DTNBP1	84062	broad.mit.edu	37	6	15638027	15638027	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:15638027T>A	uc003nbm.2	-	4	341	c.170A>T	c.(169-171)GAT>GTT	p.D57V	DTNBP1_uc003nbl.2_5'UTR|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.D57V|DTNBP1_uc010jph.2_Missense_Mutation_p.D44V	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	57					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGCCCATGTATCCTCATACCT	0.303									Hermansky-Pudlak_syndrome			
MYLIP	29116	broad.mit.edu	37	6	16143397	16143397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16143397T>C	uc003nbq.2	+	4	848	c.611T>C	c.(610-612)GTT>GCT	p.V204A	MYLIP_uc003nbr.2_Missense_Mutation_p.V23A	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	204	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTCATTGGGGTTGGACCTGAA	0.413												
MYLIP	29116	broad.mit.edu	37	6	16145537	16145537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16145537G>A	uc003nbq.2	+	6	1474	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	MYLIP_uc003nbr.2_Missense_Mutation_p.A232T	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	413	RING-type.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAGCTGCGCCGCCCAGCTACA	0.592												
ATXN1	6310	broad.mit.edu	37	6	16328417	16328417	+	Missense_Mutation	SNP	C	C	T	rs146653003	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:16328417C>T	uc003nbt.2	-	8	1096	c.125G>A	c.(124-126)GGC>GAC	p.G42D	ATXN1_uc010jpi.2_Missense_Mutation_p.G42D|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	42					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCATGCTGTGCCCTCCACCCG	0.687												
NUP153	9972	broad.mit.edu	37	6	17626217	17626217	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:17626217A>G	uc003ncd.1	-	19	3923	c.3723T>C	c.(3721-3723)GGT>GGC	p.G1241G	NUP153_uc011dje.1_Silent_p.G1272G|NUP153_uc010jpl.1_Silent_p.G1199G	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1241					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAGCAGTGTTACCAAAGGCAG	0.488												
KIF13A	63971	broad.mit.edu	37	6	17794613	17794613	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:17794613C>A	uc003ncg.3	-	25	3194	c.3089G>T	c.(3088-3090)AGA>ATA	p.R1030I	KIF13A_uc003ncf.2_Missense_Mutation_p.R1030I|KIF13A_uc003nch.3_Missense_Mutation_p.R1030I|KIF13A_uc003nci.3_Missense_Mutation_p.R1030I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1030					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GACTTGTACTCTACGGGAATG	0.493												
CDKAL1	54901	broad.mit.edu	37	6	20846385	20846385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:20846385G>A	uc003ndc.1	+	9	892	c.718G>A	c.(718-720)GAT>AAT	p.D240N	CDKAL1_uc003ndd.1_Missense_Mutation_p.D240N|CDKAL1_uc003nde.1_Missense_Mutation_p.D170N	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	240					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGAACTAGTAGATAGAGCCAA	0.323												
HIST1H3B	8358	broad.mit.edu	37	6	26032005	26032005	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26032005T>C	uc003nfs.1	-	1	284	c.284A>G	c.(283-285)GAG>GGG	p.E95G		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CTCACAAGCCTCCTGCAGCGC	0.557												
HIST1H1E	3008	broad.mit.edu	37	6	26157199	26157199	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26157199T>C	uc003ngq.2	+	1	641	c.581T>C	c.(580-582)GTT>GCT	p.V194A	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	194					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						GCCAAAGCAGTTAAACCCAAG	0.552												
HIST1H2BD	3017	broad.mit.edu	37	6	26158753	26158753	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26158753T>A	uc003ngr.2	+	1	405	c.356T>A	c.(355-357)GTC>GAC	p.V119D	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V119D	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						ACCAAGGCCGTCACCAAGTAC	0.547												
HIST1H3E	8353	broad.mit.edu	37	6	26225698	26225698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26225698G>A	uc003nhb.2	+	2	676	c.316G>A	c.(316-318)GAG>AAG	p.E106K	HIST1H3E_uc003nhc.3_Missense_Mutation_p.E106K	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGGGCTTTTCGAGGACACCAA	0.587											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BTN2A1	11120	broad.mit.edu	37	6	26468337	26468337	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:26468337G>T	uc003nib.1	+	8	1356	c.1144G>T	c.(1144-1146)GCT>TCT	p.A382S	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.A230S|BTN2A1_uc011dko.1_Missense_Mutation_p.A321S|BTN2A1_uc010jqk.1_Missense_Mutation_p.A142S	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	382	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						GGAGAGCTTCGCTTCAGGGAA	0.562												
HIST1H2BK	85236	broad.mit.edu	37	6	27114322	27114322	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27114322T>C	uc003nix.1	-	1	298	c.256A>G	c.(256-258)AAG>GAG	p.K86E	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	86					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						GTCGAGCGCTTGTTGTAATGC	0.632												
HIST1H2BL	8340	broad.mit.edu	37	6	27775413	27775413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27775413G>A	uc003njl.2	-	1	297	c.272C>T	c.(271-273)ACC>ATC	p.T91I	HIST1H3H_uc003njm.2_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	91					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCCCTGGAGGTGATGGTCGA	0.632												
HIST1H1B	3009	broad.mit.edu	37	6	27834749	27834749	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:27834749T>C	uc003njx.2	-	1	611	c.559A>G	c.(559-561)ACC>GCC	p.T187A		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	187					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						GGACTCTTGGTTGCCTTTTTC	0.572												
ZKSCAN4	387032	broad.mit.edu	37	6	28213206	28213206	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:28213206C>T	uc003nks.1	-	5	1570	c.1326G>A	c.(1324-1326)AGG>AGA	p.R442R	ZKSCAN4_uc011dlb.1_Silent_p.R287R	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	442	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						GTGAATTCCGCCTAAAGGCTT	0.488												
ZNF311	282890	broad.mit.edu	37	6	28964094	28964094	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:28964094T>C	uc003nlu.2	-	7	1198	c.685A>G	c.(685-687)AAT>GAT	p.N229D	ZNF311_uc011dlk.1_Missense_Mutation_p.N137D|ZNF311_uc003nlv.2_Missense_Mutation_p.N137D	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GAGTTTGGATTCAAGTTTTTA	0.388												
HLA-F	3134	broad.mit.edu	37	6	29692222	29692222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:29692222G>A	uc010jrl.2	+	3	731	c.607G>A	c.(607-609)GCA>ACA	p.A203T	HLA-F_uc003nnm.3_Missense_Mutation_p.A203T|HLA-F_uc003nno.3_Missense_Mutation_p.A203T|HLA-F_uc011dlx.1_Missense_Mutation_p.A203T|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	203	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						GCTACAGCGCGCAGGTACCAG	0.577												
HLA-A	3105	broad.mit.edu	37	6	29911191	29911191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:29911191G>A	uc003nol.2	+	3	490	c.490G>A	c.(490-492)GCT>ACT	p.A164T	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Missense_Mutation_p.A43T|HLA-A_uc003nok.2_Missense_Mutation_p.A43T|HLA-A_uc003non.2_Missense_Mutation_p.A164T|HLA-A_uc003noo.2_Missense_Mutation_p.A164T|HLA-A_uc010jrr.2_Missense_Mutation_p.A164T|HLA-A_uc003nom.2_Missense_Mutation_p.A43T|HLA-A_uc010klp.2_Missense_Mutation_p.A136T|HLA-A_uc011dmc.1_Missense_Mutation_p.A43T|HLA-A_uc011dmd.1_Missense_Mutation_p.A43T	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	164	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GGACATGGCGGCTCAGATCAC	0.662									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)		
HLA-C	3107	broad.mit.edu	37	6	31239472	31239472	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31239472A>G	uc003nsy.2	-	2	254	c.247T>C	c.(247-249)TAT>CAT	p.Y83H	HLA-C_uc011dnj.1_Missense_Mutation_p.Y55H|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.Y83H|HLA-C_uc010jsl.2_Missense_Mutation_p.Y83H|HLA-C_uc003nta.2_Missense_Mutation_p.Y83H|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	83	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						CGGTCCCAATACTCCGGCCCC	0.677												
HLA-B	3106	broad.mit.edu	37	6	31324192	31324192	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31324192C>T	uc003nth.2	-	3	425	c.371G>A	c.(370-372)GGC>GAC	p.G124D	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.G3D|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.G96D	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	124	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CACGTCGCAGCCGTACATGCT	0.721									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
BAT2	7916	broad.mit.edu	37	6	31599957	31599957	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:31599957C>T	uc003nvb.3	+	16	3756	c.3507C>T	c.(3505-3507)CGC>CGT	p.R1169R	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.R1169R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1169	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						TGCCATCTCGCCGGGGCCGAG	0.687												
HLA-DQA2	3118	broad.mit.edu	37	6	32713800	32713800	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32713800C>T	uc003obx.2	+	3	622	c.564C>T	c.(562-564)GAC>GAT	p.D188D		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	188	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATTTATGACTGCAAGGTGG	0.478												
TAP2	6891	broad.mit.edu	37	6	32803014	32803014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32803014T>C	uc003occ.2	-	4	893	c.862A>G	c.(862-864)ATA>GTA	p.I288V	TAP2_uc011dqf.1_Missense_Mutation_p.I288V|TAP2_uc003ocb.1_Missense_Mutation_p.I288V|TAP2_uc003ocd.2_Missense_Mutation_p.I288V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	288	Lumenal (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CGAGGCGATATGCTGAGCATG	0.532												
TAP2	6891	broad.mit.edu	37	6	32805593	32805593	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32805593T>C	uc003occ.2	-	1	449	c.418A>G	c.(418-420)AGG>GGG	p.R140G	TAP2_uc011dqf.1_Missense_Mutation_p.R140G|TAP2_uc003ocb.1_Missense_Mutation_p.R140G|TAP2_uc003ocd.2_Missense_Mutation_p.R140G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	140	Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TTCAGCAGCCTCCACATCAAG	0.602												
PSMB8	5696	broad.mit.edu	37	6	32810470	32810470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32810470C>T	uc003oce.2	-	3	429	c.386G>A	c.(385-387)CGC>CAC	p.R129H	PSMB8_uc003ocf.2_Missense_Mutation_p.R125H|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						GGCCAGCAGGCGCTCCCAGTA	0.517												
DAXX	1616	broad.mit.edu	37	6	33287839	33287839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:33287839C>T	uc003oec.2	-	5	1618	c.1414G>A	c.(1414-1416)GAG>AAG	p.E472K	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.E397K|DAXX_uc011dre.1_Missense_Mutation_p.E484K|DAXX_uc003oed.2_Missense_Mutation_p.E472K	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	472	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						tcctgaccctcctgcatctgt	0.204			Mis|F|N		Pancreatic neuroendocrine tumors							
FANCE	2178	broad.mit.edu	37	6	35423675	35423675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:35423675C>T	uc003oko.1	+	2	585	c.400C>T	c.(400-402)CGT>TGT	p.R134C	FANCE_uc010jvw.1_Missense_Mutation_p.R134C	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	134					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						TGCCTGGCTCCGTGCCCTGGG	0.617			N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TULP1	7287	broad.mit.edu	37	6	35471339	35471339	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:35471339T>C	uc003okv.3	-	13	1332	c.1320A>G	c.(1318-1320)CGA>CGG	p.R440R	TULP1_uc003okw.3_Silent_p.R387R	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	440					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						GGCTCACATTTCGGGGCCGGA	0.622												
KCTD20	222658	broad.mit.edu	37	6	36454812	36454812	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36454812T>A	uc003ome.2	+	8	1511	c.1120T>A	c.(1120-1122)TCC>ACC	p.S374T	KCTD20_uc011dtm.1_Missense_Mutation_p.S229T|KCTD20_uc011dtn.1_Missense_Mutation_p.S128T|KCTD20_uc010jwk.2_Missense_Mutation_p.S208T|KCTD20_uc011dto.1_Missense_Mutation_p.S128T	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerisation domain	374						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2						TCGAAGCAAATCCCTCACGAA	0.473												
CDKN1A	1026	broad.mit.edu	37	6	36651993	36651993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36651993G>A	uc003omm.3	+	2	237	c.115G>A	c.(115-117)GCG>ACG	p.A39T	CDKN1A_uc011dtq.1_Missense_Mutation_p.A73T|CDKN1A_uc003oml.2_Missense_Mutation_p.A39T|CDKN1A_uc003omn.2_Missense_Mutation_p.A39T	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	39	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGCGCTAATGGCGGGCTGCAT	0.657									Multiple_Endocrine_Neoplasia_type_1			
MTCH1	23787	broad.mit.edu	37	6	36946377	36946377	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:36946377G>A	uc003ond.1	-	3	417	c.417C>T	c.(415-417)ATC>ATT	p.I139I	MTCH1_uc003onc.1_Silent_p.I139I|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Silent_p.I139I|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	139	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						CCACTTGCACGATGTACTTGG	0.572												
MDGA1	266727	broad.mit.edu	37	6	37623659	37623659	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:37623659T>C	uc003onu.1	-	4	1575	c.396A>G	c.(394-396)CCA>CCG	p.P132P		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	132	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CCGTCAGCATTGGCTCATCCA	0.622												
GLO1	2739	broad.mit.edu	37	6	38650639	38650639	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38650639A>G	uc003ooc.2	-	4	443	c.321T>C	c.(319-321)ACT>ACC	p.T107T		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	107				T->A: Loss of phosphorylation.	anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	CATCATCTTCAGTGCCCCAAT	0.383												
DNAH8	1769	broad.mit.edu	37	6	38743627	38743627	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38743627A>G	uc003ooe.1	+	11	1811	c.1211A>G	c.(1210-1212)TAC>TGC	p.Y404C		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGAAATATATACCAAGGGGTT	0.308												
DNAH8	1769	broad.mit.edu	37	6	38838249	38838249	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38838249A>G	uc003ooe.1	+	47	6850	c.6250A>G	c.(6250-6252)ACT>GCT	p.T2084A		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGATAGTAATACTTATGCAGA	0.423												
DNAH8	1769	broad.mit.edu	37	6	38840893	38840893	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38840893C>T	uc003ooe.1	+	49	7398	c.6798C>T	c.(6796-6798)AGC>AGT	p.S2266S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						ATATCAGCAGCTCTGCTCTCA	0.498												
DNAH8	1769	broad.mit.edu	37	6	38913267	38913267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38913267C>T	uc003ooe.1	+	78	11981	c.11381C>T	c.(11380-11382)GCC>GTC	p.A3794V	DNAH8_uc003oog.1_Missense_Mutation_p.A243V|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GACCTGAAAGCCTGTCCTCCC	0.458												
LRFN2	57497	broad.mit.edu	37	6	40359769	40359769	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40359769G>A	uc003oph.1	-	3	2748	c.2283C>T	c.(2281-2283)GGC>GGT	p.G761G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	761	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGAGCATGCCGTTGACAG	0.647												
LRFN2	57497	broad.mit.edu	37	6	40399694	40399694	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40399694T>C	uc003oph.1	-	2	1624	c.1159A>G	c.(1159-1161)AGC>GGC	p.S387G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	387	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGTGCGGCTGGTGCTGTTG	0.652												
UNC5CL	222643	broad.mit.edu	37	6	40996272	40996272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:40996272C>T	uc003opi.2	-	9	1486	c.1397G>A	c.(1396-1398)GGC>GAC	p.G466D		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	466	Death.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGCAGGCTGCCGTTCTGCTC	0.642											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCR2	9436	broad.mit.edu	37	6	41309564	41309564	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:41309564C>T	uc003oqh.2	+	3	514	c.427C>T	c.(427-429)CGC>TGC	p.R143C	NCR2_uc003oqi.2_Missense_Mutation_p.R143C|NCR2_uc003oqj.2_Missense_Mutation_p.R143C	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	143	Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTGGACTCCCCGCGACCTGGT	0.622												
KIAA0240	23506	broad.mit.edu	37	6	42797264	42797264	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42797264A>G	uc003osn.1	+	6	1344	c.1193A>G	c.(1192-1194)CAA>CGA	p.Q398R	KIAA0240_uc003osm.1_Missense_Mutation_p.Q398R|KIAA0240_uc011duw.1_Missense_Mutation_p.Q398R|KIAA0240_uc003oso.1_Missense_Mutation_p.Q398R|KIAA0240_uc003osp.1_Missense_Mutation_p.Q398R	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	398										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CACGCACCCCAAAGTCAGTTC	0.498												
KIAA0240	23506	broad.mit.edu	37	6	42797872	42797872	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42797872A>G	uc003osn.1	+	6	1952	c.1801A>G	c.(1801-1803)ACA>GCA	p.T601A	KIAA0240_uc003osm.1_Missense_Mutation_p.T601A|KIAA0240_uc011duw.1_Missense_Mutation_p.T601A|KIAA0240_uc003oso.1_Missense_Mutation_p.T601A|KIAA0240_uc003osp.1_Missense_Mutation_p.T601A	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	601										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			CTTCAGTAACACACCTGGAAC	0.443												
KLHDC3	116138	broad.mit.edu	37	6	42986446	42986446	+	Missense_Mutation	SNP	A	A	C	rs145827595		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42986446A>C	uc003otl.2	+	7	978	c.809A>C	c.(808-810)AAG>ACG	p.K270T	C6orf153_uc003otp.1_5'Flank|KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.K246T|KLHDC3_uc003otn.2_Missense_Mutation_p.K154T|KLHDC3_uc003oto.2_Missense_Mutation_p.K211T	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	270	Kelch 5.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACCTCTGGAAGTTTAATCCT	0.498												
CUL9	23113	broad.mit.edu	37	6	43155501	43155501	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43155501C>T	uc003ouk.2	+	7	1707	c.1632C>T	c.(1630-1632)GCC>GCT	p.A544A	CUL9_uc003ouj.1_Silent_p.A434A|CUL9_uc003oul.2_Silent_p.A544A|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.A2A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	544					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						TGGAAATGGCCGAGAGTCTGC	0.507												
ZNF318	24149	broad.mit.edu	37	6	43305768	43305768	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43305768T>C	uc003oux.2	-	10	6046	c.5968A>G	c.(5968-5970)ACA>GCA	p.T1990A	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1990					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGTCACTGTTAACTCTGGA	0.483												
ZNF318	24149	broad.mit.edu	37	6	43305890	43305890	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:43305890T>C	uc003oux.2	-	10	5924	c.5846A>G	c.(5845-5847)CAA>CGA	p.Q1949R	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1949					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTTTTAACTTGAAAGTCTTT	0.433												
CDC5L	988	broad.mit.edu	37	6	44413480	44413480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:44413480G>A	uc003oxl.2	+	15	2439	c.2180G>A	c.(2179-2181)CGT>CAT	p.R727H		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	727	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACCAGTCTCGTGCTATGGGG	0.448												
MEP1A	4224	broad.mit.edu	37	6	46800870	46800870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46800870C>T	uc010jzh.1	+	11	1246	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C	MEP1A_uc011dwg.1_Missense_Mutation_p.R124C|MEP1A_uc011dwh.1_Missense_Mutation_p.R430C|MEP1A_uc011dwi.1_Missense_Mutation_p.R302C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	402	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ACAGAAGTTTCGCTACCTTTT	0.483												
GPR116	221395	broad.mit.edu	37	6	46836655	46836655	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46836655A>G	uc003oyo.3	-	12	1875	c.1586T>C	c.(1585-1587)GTA>GCA	p.V529A	GPR116_uc011dwj.1_Missense_Mutation_p.V84A|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.V387A|GPR116_uc003oyq.3_Missense_Mutation_p.V529A|GPR116_uc010jzi.1_Missense_Mutation_p.V201A	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	529	Ig-like 3.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GACTGTCAGTACTGATTCTGC	0.428												
LRRC1	55227	broad.mit.edu	37	6	53785559	53785559	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:53785559G>T	uc003pcd.1	+	13	1693	c.1416G>T	c.(1414-1416)ACG>ACT	p.T472T		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	472						cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACAATGAGACGGTATGGAAAT	0.388												
HCRTR2	3062	broad.mit.edu	37	6	55147129	55147129	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:55147129G>A	uc003pcl.2	+	7	1527	c.1212G>A	c.(1210-1212)CGG>CGA	p.R404R	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	404	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGAGAGCCGGAAGTCCTTGA	0.488												
GFRAL	389400	broad.mit.edu	37	6	55214923	55214923	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:55214923T>C	uc003pcm.1	+	4	436	c.350T>C	c.(349-351)CTA>CCA	p.L117P		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	117	Extracellular (Potential).					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)			AAATGGAATCTAACTACACGT	0.303												
BAG2	9532	broad.mit.edu	37	6	57048631	57048631	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:57048631C>T	uc003pdr.2	+	3	671	c.279C>T	c.(277-279)ACC>ACT	p.T93T	BAG2_uc011dxo.1_Silent_p.T60T	NM_004282	NP_004273	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	93					apoptosis|protein folding		protein binding				0	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAACTCTCACCGTTGAAGTGT	0.378												
OGFRL1	79627	broad.mit.edu	37	6	72011356	72011356	+	Silent	SNP	G	G	A	rs143683047		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:72011356G>A	uc003pfx.1	+	7	1123	c.960G>A	c.(958-960)TCG>TCA	p.S320S		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	320						membrane	receptor activity				0						AAGAACAGTCGGAGGGAAGCA	0.483												
C6orf221	154288	broad.mit.edu	37	6	74072843	74072843	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74072843C>T	uc003pgt.3	+	2	248	c.195C>T	c.(193-195)CAC>CAT	p.H65H		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	hypothetical protein LOC154288	65	KH; atypical.									skin(2)	2						GCATCCCGCACGTCCAGGGTA	0.612												
C6orf150	115004	broad.mit.edu	37	6	74138431	74138431	+	Splice_Site	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74138431C>A	uc003pgx.1	-	4	1356	c.1217_splice	c.e4+1	p.R406_splice		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	hypothetical protein LOC115004												0						AAGGCTGTTACCTGCAACATT	0.318												
MTO1	25821	broad.mit.edu	37	6	74171709	74171709	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74171709A>G	uc003pgy.3	+	1	256	c.132A>G	c.(130-132)GGA>GGG	p.G44G	MTO1_uc010kav.2_Silent_p.G44G|MTO1_uc003pgz.3_Silent_p.G44G|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Intron|MTO1_uc003phc.1_5'Flank	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN	mitochondrial translation optimization 1 homolog	44	FAD (By similarity).				tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6						TCATTGGTGGAGGACATGCCG	0.652												
CD109	135228	broad.mit.edu	37	6	74517820	74517820	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:74517820G>A	uc003php.2	+	26	3629	c.3204G>A	c.(3202-3204)GTG>GTA	p.V1068V	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.V1068V|CD109_uc010kba.2_Silent_p.V991V	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	1068						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						ACATTGATGTGCAAGAGTCTA	0.343												
COL12A1	1303	broad.mit.edu	37	6	75798835	75798835	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75798835C>A	uc003phs.2	-	64	9163	c.8997G>T	c.(8995-8997)CTG>CTT	p.L2999L	COL12A1_uc003pht.2_Silent_p.L1835L	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2999	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GGGGGCCAGGCAGCCCCCGAG	0.488												
COL12A1	1303	broad.mit.edu	37	6	75857443	75857443	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75857443A>G	uc003phs.2	-	23	4531	c.4365T>C	c.(4363-4365)TAT>TAC	p.Y1455Y	COL12A1_uc003pht.2_Silent_p.Y291Y	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1455	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTACCACAGAATACACATTGA	0.363												
COL12A1	1303	broad.mit.edu	37	6	75875374	75875374	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:75875374A>G	uc003phs.2	-	14	2998	c.2832T>C	c.(2830-2832)GAT>GAC	p.D944D	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	944	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGTCAACATCATCATAAAGTG	0.408												
PHIP	55023	broad.mit.edu	37	6	79726343	79726343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:79726343G>A	uc003pir.2	-	13	1379	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	PHIP_uc011dyp.1_Missense_Mutation_p.R385C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	385	WD 5.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTCCCATCACGACTGCCACTT	0.403												
SH3BGRL2	83699	broad.mit.edu	37	6	80406276	80406276	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:80406276A>G	uc003piz.1	+	3	485	c.306A>G	c.(304-306)GCA>GCG	p.A102A		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein	102						nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		CACGGTTGGCATCAAAGGTAG	0.333												
TPBG	7162	broad.mit.edu	37	6	83075864	83075864	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83075864A>G	uc003pjn.3	+	3	2122	c.1186A>G	c.(1186-1188)ATG>GTG	p.M396V	TPBG_uc010kbj.2_Missense_Mutation_p.M396V|TPBG_uc003pjo.2_Missense_Mutation_p.M396V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	396	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAGGGATCACATGGAAGGGTA	0.433												
DOPEY1	23033	broad.mit.edu	37	6	83838791	83838791	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83838791C>A	uc003pjs.1	+	16	2165	c.1905C>A	c.(1903-1905)TCC>TCA	p.S635S	DOPEY1_uc011dyy.1_Silent_p.S626S|DOPEY1_uc010kbl.1_Silent_p.S626S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	635					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTAGCACATCCTCTGAGACAG	0.502												
PGM3	5238	broad.mit.edu	37	6	83891632	83891632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83891632C>T	uc003pjv.2	-	6	650	c.610G>A	c.(610-612)GAA>AAA	p.E204K	PGM3_uc003pjw.2_Missense_Mutation_p.E123K|PGM3_uc011dyz.1_Missense_Mutation_p.E232K	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	204					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GATCTGTATTCATCTCCACTG	0.383												
RWDD2A	112611	broad.mit.edu	37	6	83905673	83905673	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83905673C>T	uc003pjx.3	+	3	832	c.561C>T	c.(559-561)TGC>TGT	p.C187C	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Silent_p.C112C	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	187											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGGATTTTGCATGACAGGAA	0.433												
ME1	4199	broad.mit.edu	37	6	83926226	83926226	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:83926226A>G	uc003pjy.2	-	13	1645	c.1539T>C	c.(1537-1539)ATT>ATC	p.I513I	ME1_uc011dzb.1_Silent_p.I438I|ME1_uc011dzc.1_Silent_p.I347I	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	513					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCTTTTCTGCAATTTTCAGAG	0.328												
GABRR1	2569	broad.mit.edu	37	6	89888623	89888623	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:89888623G>A	uc003pna.2	-	10	1761	c.1306C>T	c.(1306-1308)CCA>TCA	p.P436S	GABRR1_uc011dzv.1_Missense_Mutation_p.P413S	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	436	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|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			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTCCTCTGTGGGGAGCTCCTC	0.507												
GABRR2	2570	broad.mit.edu	37	6	90024914	90024914	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90024914C>A	uc003pnb.2	-	1	54	c.46G>T	c.(46-48)GCA>TCA	p.A16S		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	16					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				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CAAAAAGCTGCTTTCCAGTAG	0.502												
MDN1	23195	broad.mit.edu	37	6	90409955	90409955	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90409955T>C	uc003pnn.1	-	57	8813	c.8697A>G	c.(8695-8697)TCA>TCG	p.S2899S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2899					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)		GAAAACCAAGTGAGAGTCCTT	0.413												
MDN1	23195	broad.mit.edu	37	6	90428119	90428119	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90428119T>C	uc003pnn.1	-	43	6665	c.6549A>G	c.(6547-6549)CGA>CGG	p.R2183R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2183					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)		TATTGTTGAGTCGCTGCATAA	0.378												
MDN1	23195	broad.mit.edu	37	6	90504397	90504397	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90504397T>C	uc003pnn.1	-	3	569	c.453A>G	c.(451-453)GCA>GCG	p.A151A	MDN1_uc003pnp.1_Silent_p.A151A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	151					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)		ACTTGAAGGCTGCTTCCATTA	0.522												
BACH2	60468	broad.mit.edu	37	6	90660168	90660168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:90660168C>T	uc011eab.1	-	7	2466	c.1657G>A	c.(1657-1659)GGA>AGA	p.G553R	BACH2_uc003pnw.2_Missense_Mutation_p.G553R|BACH2_uc010kch.2_Missense_Mutation_p.G553R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	553						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)		AATCTGGCTCCCTGGGAACAG	0.572												
MAP3K7	6885	broad.mit.edu	37	6	91263240	91263240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:91263240G>A	uc003pnz.1	-	7	835	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MAP3K7_uc003poa.1_Missense_Mutation_p.R225C|MAP3K7_uc003pob.1_Missense_Mutation_p.R225C|MAP3K7_uc003poc.1_Missense_Mutation_p.R225C	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	225	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGTTTCCGACGCGTTATCACT	0.368												
MAP3K7	6885	broad.mit.edu	37	6	91269917	91269917	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:91269917T>C	uc003pnz.1	-	5	522	c.360A>G	c.(358-360)GAA>GAG	p.E120E	MAP3K7_uc003poa.1_Silent_p.E120E|MAP3K7_uc003pob.1_Silent_p.E120E|MAP3K7_uc003poc.1_Silent_p.E120E	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	120	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGGCAATGGTTCAGCACCAT	0.423												
KIAA0776	23376	broad.mit.edu	37	6	96976501	96976501	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:96976501A>G	uc003por.2	+	6	637	c.589A>G	c.(589-591)ATT>GTT	p.I197V	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	197	Required for E3 UFM1-protein ligase activity.|Involved in CDK5RAP3-binding.				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)		ATTCAGTGCTATTACCCGGTA	0.249												
USP45	85015	broad.mit.edu	37	6	99894017	99894017	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:99894017T>C	uc003ppx.2	-	14	2164	c.1631A>G	c.(1630-1632)TAC>TGC	p.Y544C	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.Y224C	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTCCTTGGTGTACAGCAGTTT	0.478												
SIM1	6492	broad.mit.edu	37	6	100838549	100838549	+	Silent	SNP	C	C	T	rs151274826		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:100838549C>T	uc003pqj.3	-	11	2196	c.1989G>A	c.(1987-1989)TCG>TCA	p.S663S	SIM1_uc010kcu.2_Silent_p.S663S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	663	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGCGATCCGAATTGGGAC	0.458												
ASCC3	10973	broad.mit.edu	37	6	101110345	101110345	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:101110345C>T	uc003pqk.2	-	15	2683	c.2354G>A	c.(2353-2355)GGA>GAA	p.G785E	ASCC3_uc011eai.1_Missense_Mutation_p.G687E	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	785	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCGAAGCATTCCTGCATGATG	0.383												
PREP	5550	broad.mit.edu	37	6	105781355	105781355	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:105781355A>G	uc003prc.2	-	8	1052	c.849T>C	c.(847-849)ATT>ATC	p.I283I		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	283					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CAAAGTTGTCAATCAGTTTTA	0.453												
PRDM1	639	broad.mit.edu	37	6	106552829	106552829	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:106552829A>G	uc003prd.2	+	5	1028	c.794A>G	c.(793-795)GAC>GGC	p.D265G	PRDM1_uc003pre.2_Missense_Mutation_p.D131G	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	265					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGGAAAGGACCTCTACCGT	0.478			D|N|Mis|F|S		DLBCL							
RTN4IP1	84816	broad.mit.edu	37	6	107076676	107076676	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:107076676A>G	uc003prj.2	-	1	698	c.221T>C	c.(220-222)GTC>GCC	p.V74A	QRSL1_uc003prl.2_5'Flank|QRSL1_uc003prm.2_5'Flank|RTN4IP1_uc010kdd.2_Missense_Mutation_p.V74A|RTN4IP1_uc003prk.2_Intron	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	74						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTGACAATGACTTCATTTGG	0.353												
SCML4	256380	broad.mit.edu	37	6	108066254	108066254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:108066254C>T	uc010kdf.2	-	5	832	c.581G>A	c.(580-582)CGA>CAA	p.R194Q	SCML4_uc003prz.3_Missense_Mutation_p.R136Q|SCML4_uc011eam.1_Missense_Mutation_p.R194Q|SCML4_uc003psa.3_Missense_Mutation_p.R165Q	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CAGGAGGCTTCGGCACAGCTT	0.587												
SEC63	11231	broad.mit.edu	37	6	108243033	108243033	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:108243033A>G	uc003psc.3	-	4	689	c.420T>C	c.(418-420)GTT>GTC	p.V140V	SEC63_uc003psb.3_5'UTR	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	SEC63-like protein	140	J.|Lumenal (Potential).				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TCATGAACATAACCTCATCAC	0.308												
PPIL6	285755	broad.mit.edu	37	6	109752425	109752425	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:109752425T>C	uc003ptg.3	-	3	409	c.355A>G	c.(355-357)AAA>GAA	p.K119E	PPIL6_uc010kdo.2_Missense_Mutation_p.K87E|PPIL6_uc010kdp.2_Missense_Mutation_p.K119E	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase-like 6 isoform 1	119					protein folding		peptidyl-prolyl cis-trans isomerase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		GCAGAGGGTTTAATGTCAACT	0.398												
FIG4	9896	broad.mit.edu	37	6	110146437	110146437	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110146437A>G	uc003ptt.2	+	23	2908	c.2693A>G	c.(2692-2694)TAC>TGC	p.Y898C	FIG4_uc011eau.1_Missense_Mutation_p.Y592C	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	898					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCCTCCATGTACCGAGAGTAC	0.507												
CDK19	23097	broad.mit.edu	37	6	110935840	110935840	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110935840G>A	uc003puh.1	-	13	1480	c.1407C>T	c.(1405-1407)AGC>AGT	p.S469S	CDK19_uc003pui.1_Silent_p.S409S|CDK19_uc011eax.1_Silent_p.S345S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	469	Ser-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CCTGAACGCTGCTTTGGTAAT	0.517												
RPF2	84154	broad.mit.edu	37	6	111320915	111320915	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111320915T>C	uc003pun.2	+	6	337	c.318T>C	c.(316-318)GGT>GGC	p.G106G	RPF2_uc003puo.2_Silent_p.G43G	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	106	Brix.					nucleolus	protein binding	p.G106V(1)		ovary(2)	2						TCCTTCCAGGTCGTATGTATG	0.343												
REV3L	5980	broad.mit.edu	37	6	111695404	111695404	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111695404T>A	uc003puy.3	-	13	4477	c.4154A>T	c.(4153-4155)AAT>ATT	p.N1385I	REV3L_uc003pux.3_Missense_Mutation_p.N1307I|REV3L_uc003puz.3_Missense_Mutation_p.N1307I	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1385					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTATTTGCATTATCTTCTAT	0.323								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
TRAF3IP2	10758	broad.mit.edu	37	6	111912880	111912880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:111912880C>T	uc011ebc.1	-	3	1025	c.410G>A	c.(409-411)CGT>CAT	p.R137H	TRAF3IP2_uc003pvg.2_Missense_Mutation_p.R137H|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.R137H|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.R137H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.R137H	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	146					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCATTGATTACGTTTTTCCAT	0.502												
LAMA4	3910	broad.mit.edu	37	6	112462562	112462562	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:112462562T>C	uc003pvu.2	-	21	3120	c.2811A>G	c.(2809-2811)GAA>GAG	p.E937E	LAMA4_uc003pvv.2_Silent_p.E930E|LAMA4_uc003pvt.2_Silent_p.E930E	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	937	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACTGTACCTTTCAATCTTGA	0.458												
LAMA4	3910	broad.mit.edu	37	6	112528337	112528337	+	Missense_Mutation	SNP	G	G	A	rs138176093	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:112528337G>A	uc003pvu.2	-	4	616	c.307C>T	c.(307-309)CGG>TGG	p.R103W	LAMA4_uc003pvv.2_Missense_Mutation_p.R103W|LAMA4_uc003pvt.2_Missense_Mutation_p.R103W	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	103	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTGTGTTCCGCTGGCAGTGC	0.468												
COL10A1	1300	broad.mit.edu	37	6	116442008	116442008	+	Missense_Mutation	SNP	A	A	G	rs148119438		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:116442008A>G	uc003pwm.2	-	3	1367	c.1271T>C	c.(1270-1272)GTG>GCG	p.V424A	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	424	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGCTGGGCCCACAGGGCCTGG	0.597												
TSPYL1	7259	broad.mit.edu	37	6	116600086	116600086	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:116600086T>C	uc003pwp.3	-	1	1195	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	303					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ATTGGTTATGTACCTTAACAT	0.448												
DCBLD1	285761	broad.mit.edu	37	6	117862089	117862089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:117862089T>C	uc003pxs.2	+	11	1383	c.1258T>C	c.(1258-1260)TCA>CCA	p.S420P	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S420P|DCBLD1_uc003pxt.1_Missense_Mutation_p.S75P	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	420	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGGTAATGATTCATTGGTGTG	0.453												
FAM184A	79632	broad.mit.edu	37	6	119285848	119285848	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:119285848A>G	uc003pyj.2	-	16	3470	c.3122T>C	c.(3121-3123)ATT>ACT	p.I1041T	FAM184A_uc003pyk.3_Missense_Mutation_p.I872T|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	1041										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						CAATGGATTAATAACACCAAC	0.338												
FAM184A	79632	broad.mit.edu	37	6	119297200	119297200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:119297200C>T	uc003pyj.2	-	12	2813	c.2465G>A	c.(2464-2466)CGC>CAC	p.R822H	FAM184A_uc003pyk.3_Missense_Mutation_p.R702H|FAM184A_uc003pyl.3_Missense_Mutation_p.R702H|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	822										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GAGTTCTGAGCGCAAGGAAGC	0.289												
GJA1	2697	broad.mit.edu	37	6	121768708	121768708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:121768708C>T	uc003pyr.2	+	2	965	c.715C>T	c.(715-717)CGG>TGG	p.R239W	GJA1_uc011ebo.1_Missense_Mutation_p.R140W|GJA1_uc011ebp.1_Missense_Mutation_p.R27W	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	239	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CGTTAAGGATCGGGTTAAGGG	0.478												
SERINC1	57515	broad.mit.edu	37	6	122768017	122768017	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:122768017A>G	uc003pyy.1	-	9	1198	c.1128T>C	c.(1126-1128)GAT>GAC	p.D376D	SERINC1_uc003pyx.1_RNA	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	serine incorporator 1	376	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.126)		CCCTTTCATTATCTACAGCTC	0.418												
TRDN	10345	broad.mit.edu	37	6	123892227	123892227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:123892227G>A	uc003pzj.1	-	2	95	c.73C>T	c.(73-75)CCC>TCC	p.P25S	TRDN_uc003pzk.1_Missense_Mutation_p.P25S|TRDN_uc003pzl.1_Missense_Mutation_p.P25S|TRDN_uc010ken.2_Missense_Mutation_p.P25S|TRDN_uc010keo.1_Missense_Mutation_p.P25S	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	25	Cytoplasmic.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		GGGGATTTGGGCACAGATCCA	0.428												
RSPO3	84870	broad.mit.edu	37	6	127469863	127469863	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:127469863A>G	uc003qar.2	+	2	458	c.168A>G	c.(166-168)TCA>TCG	p.S56S	RSPO3_uc003qas.1_Silent_p.S56S	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	56	FU 1.					extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		GATGTTTGTCATGTAAGCCCA	0.418												
C6orf174	387104	broad.mit.edu	37	6	127836026	127836026	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:127836026T>C	uc003qbd.2	-	3	2133	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	423	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GGTCTGGGCGTAGCGGAGCCT	0.652												
PTPRK	5796	broad.mit.edu	37	6	128318067	128318067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:128318067G>A	uc003qbk.2	-	17	3110	c.2743C>T	c.(2743-2745)CGA>TGA	p.R915*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.R916*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.R916*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.R932*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	915	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTCCATATCGGTTTTTTGCT	0.318												
PTPRK	5796	broad.mit.edu	37	6	128643450	128643450	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:128643450A>G	uc003qbk.2	-	3	596	c.229T>C	c.(229-231)TAT>CAT	p.Y77H	PTPRK_uc003qbj.2_Missense_Mutation_p.Y77H|PTPRK_uc010kfc.2_Missense_Mutation_p.Y77H|PTPRK_uc011ebu.1_Missense_Mutation_p.Y77H|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.Y77H|PTPRK_uc003qbm.3_Missense_Mutation_p.Y6H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	77	Extracellular (Potential).|MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTATCATATAGGAACCTGAA	0.353												
LAMA2	3908	broad.mit.edu	37	6	129759812	129759812	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:129759812G>A	uc003qbn.2	+	42	6095	c.5990G>A	c.(5989-5991)GGC>GAC	p.G1997D	LAMA2_uc003qbo.2_Missense_Mutation_p.G1997D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1997	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATCTAAATGGCTTAAAAACC	0.338												
ARG1	383	broad.mit.edu	37	6	131903792	131903792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:131903792C>T	uc003qcp.1	+	5	555	c.497C>T	c.(496-498)ACT>ATT	p.T166I	ARG1_uc003qco.1_Missense_Mutation_p.T166I|ARG1_uc010kfm.1_Missense_Mutation_p.T174I|MED23_uc003qcq.2_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	arginase 1	166					arginine catabolic process|urea cycle	cytosol	arginase activity			ovary(1)	1	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCTGGGTGACTCCCTGTATA	0.403												
VNN1	8876	broad.mit.edu	37	6	133005526	133005526	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:133005526A>G	uc003qdo.2	-	6	1327	c.1307T>C	c.(1306-1308)GTC>GCC	p.V436A	VNN1_uc003qdn.2_RNA	NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	436					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CTCAGGAAAGACATACTGGGT	0.423												
BCLAF1	9774	broad.mit.edu	37	6	136594249	136594249	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:136594249A>G	uc003qgx.1	-	7	2182	c.1929T>C	c.(1927-1929)AGT>AGC	p.S643S	BCLAF1_uc003qgw.1_Silent_p.S470S|BCLAF1_uc003qgy.1_Silent_p.S641S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.S641S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	643					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTGCCGAGTACTATGTTCTT	0.393												
MAP3K5	4217	broad.mit.edu	37	6	136977530	136977530	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:136977530G>A	uc003qhc.2	-	10	1956	c.1595C>T	c.(1594-1596)CCT>CTT	p.P532L	MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.P377L|MAP3K5_uc010kgw.1_Missense_Mutation_p.P532L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	532					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTGGCCACAGGCTGTTCTGT	0.403												
TNFAIP3	7128	broad.mit.edu	37	6	138200209	138200209	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:138200209A>G	uc003qhr.2	+	7	1693	c.1627A>G	c.(1627-1629)ACT>GCT	p.T543A	TNFAIP3_uc003qhs.2_Missense_Mutation_p.T543A	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	543	Interaction with NAF1 (By similarity).|A20-type 3.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTCAAAAGGACTACAGCAGA	0.597			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
REPS1	85021	broad.mit.edu	37	6	139233945	139233945	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:139233945T>C	uc003qii.2	-	16	2507	c.1928A>G	c.(1927-1929)GAC>GGC	p.D643G	REPS1_uc003qig.3_Missense_Mutation_p.D616G|REPS1_uc011edr.1_Missense_Mutation_p.D642G|REPS1_uc003qij.2_Missense_Mutation_p.D552G|REPS1_uc003qik.2_Missense_Mutation_p.D249G	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	643						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATCTTGTTCGTCGTTTACATT	0.443												
HIVEP2	3097	broad.mit.edu	37	6	143093511	143093511	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:143093511G>T	uc003qjd.2	-	5	3108	c.2365C>A	c.(2365-2367)CTA>ATA	p.L789I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGCCCCCTAGGTCTGACATC	0.512												
PEX3	8504	broad.mit.edu	37	6	143793410	143793410	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:143793410A>G	uc003qjl.2	+	8	954	c.692A>G	c.(691-693)AAA>AGA	p.K231R	PEX3_uc011edx.1_Missense_Mutation_p.K231R	NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	231	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GATGGATCCAAACCTTTATTA	0.353												
UTRN	7402	broad.mit.edu	37	6	144769741	144769741	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:144769741T>C	uc003qkt.2	+	16	2000	c.1908T>C	c.(1906-1908)ACT>ACC	p.T636T	UTRN_uc010khq.1_Silent_p.T636T	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	636	Interaction with SYNM.|Spectrin 4.				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)		TTCAGGTGACTCAGGCTGTAG	0.279												
UTRN	7402	broad.mit.edu	37	6	145160394	145160394	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:145160394C>G	uc003qkt.2	+	71	10243	c.10151C>G	c.(10150-10152)GCC>GGC	p.A3384G		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	3384					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)		GATCCAGATGCCTCCGGCCCA	0.527												
STXBP5	134957	broad.mit.edu	37	6	147635760	147635760	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:147635760G>A	uc003qlz.2	+	14	1551	c.1390G>A	c.(1390-1392)GAT>AAT	p.D464N	STXBP5_uc010khz.1_Missense_Mutation_p.D464N|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.D135N	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	464	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAAGTTCTGGGATGCTTCTGC	0.299												
SASH1	23328	broad.mit.edu	37	6	148853986	148853986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:148853986A>G	uc003qme.1	+	14	2093	c.1618A>G	c.(1618-1620)AAG>GAG	p.K540E	SASH1_uc011eeb.1_Missense_Mutation_p.K301E|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	540							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGAAAGCGTCAAGTCGGAAGA	0.572												
ZC3H12D	340152	broad.mit.edu	37	6	149777991	149777991	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:149777991T>C	uc003qmn.1	-	3	561	c.491A>G	c.(490-492)TAC>TGC	p.Y164C	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.Y164C|ZC3H12D_uc010kid.2_Missense_Mutation_p.Y164C	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	164						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GGACGGCGTGTACACCAGCAC	0.692												
LATS1	9113	broad.mit.edu	37	6	150004573	150004573	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:150004573T>C	uc003qmu.1	-	4	2200	c.1652A>G	c.(1651-1653)AAC>AGC	p.N551S	LATS1_uc010kif.1_Missense_Mutation_p.N446S|LATS1_uc003qmv.1_Missense_Mutation_p.N551S|LATS1_uc003qmw.2_Missense_Mutation_p.N551S|LATS1_uc010kig.1_Missense_Mutation_p.N446S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	551	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCCTTGATAGTTTGGAGCTTC	0.483												
IYD	389434	broad.mit.edu	37	6	150715265	150715265	+	Silent	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:150715265T>A	uc003qnu.1	+	4	701	c.561T>A	c.(559-561)ACT>ACA	p.T187T	IYD_uc003qnv.1_Silent_p.T187T|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.T187T|IYD_uc010kik.1_Silent_p.T105T	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	187	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ACTTGGATACTGCCCCTATTT	0.368												
RMND1	55005	broad.mit.edu	37	6	151766783	151766783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:151766783G>A	uc003qoi.2	-	2	344	c.164C>T	c.(163-165)CCT>CTT	p.P55L	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.P55L|RMND1_uc011eer.1_Missense_Mutation_p.P55L	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	55											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGTTTTATCAGGAAGGAACAA	0.393												
SYNE1	23345	broad.mit.edu	37	6	152469422	152469422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152469422G>A	uc010kiw.2	-	137	25336	c.24734C>T	c.(24733-24735)GCA>GTA	p.A8245V	SYNE1_uc010kiv.2_Missense_Mutation_p.A2769V|SYNE1_uc003qos.3_Missense_Mutation_p.A2769V|SYNE1_uc003qot.3_Missense_Mutation_p.A8174V|SYNE1_uc003qou.3_Missense_Mutation_p.A8245V|SYNE1_uc003qop.3_Missense_Mutation_p.A407V|SYNE1_uc011eez.1_Missense_Mutation_p.A447V|SYNE1_uc003qoq.3_Missense_Mutation_p.A447V|SYNE1_uc003qor.3_Missense_Mutation_p.A1145V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8245	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)		CAGGCTGTCTGCAGAGCGGTC	0.632										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152557373	152557373	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152557373T>C	uc010kiw.2	-	110	20867	c.20265A>G	c.(20263-20265)CGA>CGG	p.R6755R	SYNE1_uc010kiv.2_Silent_p.R1279R|SYNE1_uc003qos.3_Silent_p.R1279R|SYNE1_uc003qot.3_Silent_p.R6684R|SYNE1_uc003qou.3_Silent_p.R6755R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6755	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)		ATATCAGAAGTCGTTTCCCAT	0.338										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152652220	152652220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152652220C>T	uc010kiw.2	-	78	14202	c.13600G>A	c.(13600-13602)GGG>AGG	p.G4534R	SYNE1_uc003qot.3_Missense_Mutation_p.G4463R|SYNE1_uc003qou.3_Missense_Mutation_p.G4534R|SYNE1_uc010kiz.2_Missense_Mutation_p.G289R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4534	Cytoplasmic (Potential).|Spectrin 13.				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)		TGAAGCTTCCCCAGCACTTCA	0.453										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152718065	152718065	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152718065A>G	uc010kiw.2	-	50	8003	c.7401T>C	c.(7399-7401)ACT>ACC	p.T2467T	SYNE1_uc003qot.3_Silent_p.T2474T|SYNE1_uc003qou.3_Silent_p.T2467T|SYNE1_uc010kjb.1_Silent_p.T2450T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2467	Spectrin 4.|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)		GTCCTTCTTGAGTCACTGCAT	0.378										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152847248	152847248	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152847248A>G	uc010kiw.2	-	5	794	c.192T>C	c.(190-192)CTT>CTC	p.L64L	SYNE1_uc003qot.3_Silent_p.L64L|SYNE1_uc003qou.3_Silent_p.L64L|SYNE1_uc010kjb.1_Silent_p.L64L|SYNE1_uc003qpa.1_Silent_p.L64L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	64	Actin-binding.|Cytoplasmic (Potential).|CH 1.				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)		CCAGAAGGGCAAGCAGTTTAA	0.398										HNSCC(10;0.0054)		
RBM16	22828	broad.mit.edu	37	6	155154296	155154296	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:155154296G>T	uc003qqa.2	+	21	3815	c.3583G>T	c.(3583-3585)GTT>TTT	p.V1195F	TIAM2_uc003qqb.2_5'UTR|RBM16_uc011efj.1_Missense_Mutation_p.V1261F|RBM16_uc011efk.1_Missense_Mutation_p.V1240F|RBM16_uc003qpz.2_Missense_Mutation_p.V1195F|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	1195					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)		TCATGCTCGGGTTTTTGATTA	0.433												
CLDN20	49861	broad.mit.edu	37	6	155596891	155596891	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:155596891T>C	uc003qql.1	+	2	418	c.38T>C	c.(37-39)CTG>CCG	p.L13P	TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	NM_001001346	NP_001001346	P56880	CLD20_HUMAN	claudin 20	13	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GCTTTCATCCTGGCCTTATCT	0.483												
TULP4	56995	broad.mit.edu	37	6	158924465	158924465	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:158924465C>A	uc003qrf.2	+	13	5127	c.3770C>A	c.(3769-3771)CCT>CAT	p.P1257H	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1257					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCTGCCACCTGTCGCCTTG	0.627												
WTAP	9589	broad.mit.edu	37	6	160164712	160164712	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:160164712G>A	uc003qsl.2	+	5	383	c.161G>A	c.(160-162)GGC>GAC	p.G54D	WTAP_uc010kjx.2_Missense_Mutation_p.G54D|WTAP_uc003qsk.2_Missense_Mutation_p.G54D|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.G54D	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	54					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATGTAACTGGCCTAAGAGAG	0.363												
PLG	5340	broad.mit.edu	37	6	161152266	161152266	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161152266T>C	uc003qtm.3	+	11	1501	c.1438_splice	c.e11+2	p.D480_splice		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCGAAGAAGGTAAGAAATCTG	0.473												
MAP3K4	4216	broad.mit.edu	37	6	161502018	161502018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161502018G>A	uc003qtn.2	+	6	2345	c.2203G>A	c.(2203-2205)GAA>AAA	p.E735K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E735K|MAP3K4_uc003qto.2_Missense_Mutation_p.E735K|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.E188K	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	735					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTTCACCAAAGAAATAACTCA	0.428												
MAP3K4	4216	broad.mit.edu	37	6	161527693	161527693	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:161527693G>A	uc003qtn.2	+	20	4146	c.4004G>A	c.(4003-4005)GGC>GAC	p.G1335D	MAP3K4_uc010kkc.1_Missense_Mutation_p.G1331D|MAP3K4_uc003qto.2_Missense_Mutation_p.G1285D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.G788D|MAP3K4_uc003qtp.2_Missense_Mutation_p.G271D|MAP3K4_uc003qtq.2_Missense_Mutation_p.G24D	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1335					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGCACGTTGGCTTGAGGAAG	0.388												
UNC93A	54346	broad.mit.edu	37	6	167708156	167708156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:167708156C>T	uc003qvq.2	+	2	414	c.239C>T	c.(238-240)GCC>GTC	p.A80V	UNC93A_uc003qvr.2_Missense_Mutation_p.A80V	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	80	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCTACGTGGCCTTCTCCGTG	0.637												
MLLT4	4301	broad.mit.edu	37	6	168348992	168348992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:168348992G>A	uc003qwd.2	+	28	3783	c.3641G>A	c.(3640-3642)AGA>AAA	p.R1214K	MLLT4_uc003qwb.1_Missense_Mutation_p.R1199K|MLLT4_uc003qwc.1_Missense_Mutation_p.R1215K|MLLT4_uc003qwg.1_Missense_Mutation_p.R524K	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1215					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)		CCTCCGCCTAGACCTGAAGCC	0.448			T	MLL	AL							
KIF25	3834	broad.mit.edu	37	6	168434697	168434697	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:168434697T>C	uc003qwk.1	+	4	565	c.303T>C	c.(301-303)GCT>GCC	p.A101A	KIF25_uc003qwl.1_Silent_p.A101A	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	101	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTAGAGTGGCTGAGGAGCTCT	0.547												
PDCD2	5134	broad.mit.edu	37	6	170889180	170889180	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:170889180C>T	uc003qxw.2	-	4	751	c.672G>A	c.(670-672)GAG>GAA	p.E224E	PDCD2_uc003qxv.2_Silent_p.E191E|PDCD2_uc003qxx.1_Silent_p.E224E	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	224					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CCAGTTCTTCCTCAAGTGCTT	0.388												
HEATR2	54919	broad.mit.edu	37	7	769478	769478	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:769478C>T	uc010krz.1	+	2	794	c.774C>T	c.(772-774)GTC>GTT	p.V258V	PRKAR1B_uc003siw.1_5'Flank|HEATR2_uc003siz.2_Silent_p.V126V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	258	HEAT 3.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TTGATGACGTCCCGCAGGTAA	0.517												
CHST12	55501	broad.mit.edu	37	7	2472447	2472447	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:2472447G>T	uc003smc.2	+	2	308	c.173G>T	c.(172-174)AGG>ATG	p.R58M	CHST12_uc003smd.2_Missense_Mutation_p.R58M	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	58	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GACAGGGACAGGGAGCTCACG	0.657												
C7orf27	221927	broad.mit.edu	37	7	2583482	2583482	+	Missense_Mutation	SNP	C	C	A	rs148598276	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:2583482C>A	uc003smi.2	-	5	587	c.545G>T	c.(544-546)GGG>GTG	p.G182V	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_Missense_Mutation_p.G182V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	182					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GCAGGGCTGCCCCTCGGCTCC	0.652												
FOXK1	221937	broad.mit.edu	37	7	4800727	4800727	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:4800727A>G	uc003snc.1	+	8	1739	c.1729A>G	c.(1729-1731)ACA>GCA	p.T577A	FOXK1_uc003sna.1_Missense_Mutation_p.T414A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	577					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TGCGTTTGCCACAATCCCCGC	0.652												
ACTB	60	broad.mit.edu	37	7	5567755	5567755	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:5567755G>A	uc003sos.3	-	4	900	c.864C>T	c.(862-864)GAC>GAT	p.D288D	ACTB_uc003sor.3_Silent_p.D166D|ACTB_uc003sot.3_Silent_p.D288D|ACTB_uc003soq.3_Silent_p.D166D|ACTB_uc010ksy.2_Silent_p.D166D	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	288					'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)		CTTTGCGGATGTCCACGTCAC	0.557												
RNF216	54476	broad.mit.edu	37	7	5692060	5692060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:5692060T>C	uc003soy.1	-	14	2162	c.1972A>G	c.(1972-1974)AAG>GAG	p.K658E	RNF216_uc010ksz.1_Missense_Mutation_p.K280E|RNF216_uc010kta.1_Missense_Mutation_p.K280E|RNF216_uc011jwj.1_Missense_Mutation_p.K280E|RNF216_uc003sox.1_Missense_Mutation_p.K715E|RNF216_uc003spa.1_RNA	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	658					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTACGGTACTTGATGTCGTCT	0.473												
PMS2	5395	broad.mit.edu	37	7	6027153	6027153	+	Missense_Mutation	SNP	C	C	T	rs138387687		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:6027153C>T	uc003spl.2	-	11	1330	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M	PMS2_uc003spj.2_Missense_Mutation_p.V309M|PMS2_uc003spk.2_Missense_Mutation_p.V280M|PMS2_uc011jwl.1_Missense_Mutation_p.V280M|PMS2_uc010ktg.2_Missense_Mutation_p.V104M|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.V415M	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	415					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			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAATGGACACGTCTTTTTTT	0.458			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
USP42	84132	broad.mit.edu	37	7	6189299	6189299	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:6189299A>G	uc011jwo.1	+	13	1595	c.1472A>G	c.(1471-1473)AAC>AGC	p.N491S	USP42_uc010kth.1_Missense_Mutation_p.N424S|USP42_uc011jwp.1_Missense_Mutation_p.N491S|USP42_uc011jwq.1_Missense_Mutation_p.N298S|USP42_uc011jwr.1_Missense_Mutation_p.N336S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	491					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAGTGTCAACAGGGCTAGT	0.443												
DGKB	1607	broad.mit.edu	37	7	14733738	14733738	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:14733738T>C	uc003ssz.2	-	8	860	c.673A>G	c.(673-675)ACA>GCA	p.T225A	DGKB_uc011jxt.1_Missense_Mutation_p.T218A|DGKB_uc003sta.2_Missense_Mutation_p.T225A|DGKB_uc011jxu.1_Missense_Mutation_p.T225A|DGKB_uc011jxv.1_Missense_Mutation_p.T225A	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	225	EF-hand 2.				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)	GGAATCGTTGTCATTCCTCCT	0.463												
ISPD	729920	broad.mit.edu	37	7	16317832	16317832	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:16317832A>C	uc010ktx.2	-	6	855	c.855T>G	c.(853-855)ATT>ATG	p.I285M	ISPD_uc010kty.2_Missense_Mutation_p.I235M	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	285					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1						TAACTACACAAATCTCTTGGG	0.313										Multiple Myeloma(15;0.18)		
SNX13	23161	broad.mit.edu	37	7	17861218	17861218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:17861218G>A	uc003stw.1	-	18	2005	c.1792C>T	c.(1792-1794)CGG>TGG	p.R598W	SNX13_uc003stv.2_Missense_Mutation_p.R587W|SNX13_uc010kuc.2_Missense_Mutation_p.R384W|SNX13_uc010kub.2_5'UTR			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	598	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGGTTGCGCCGGTGTACAGTG	0.403												
ABCB5	340273	broad.mit.edu	37	7	20782592	20782592	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:20782592T>C	uc003suw.3	+	16	2328	c.1782T>C	c.(1780-1782)AGT>AGC	p.S594S	ABCB5_uc010kuh.2_Silent_p.S1039S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	594	Cytoplasmic (Potential).|ABC transporter 2.				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						TATCCCTCAGTATTGAGCGAG	0.478												
SP4	6671	broad.mit.edu	37	7	21469680	21469680	+	Missense_Mutation	SNP	A	A	T	rs138646408		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:21469680A>T	uc003sva.2	+	3	1078	c.897A>T	c.(895-897)CAA>CAT	p.Q299H	SP4_uc003svb.2_5'UTR	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	299					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						ATGGGAATCAATTAGTTTCCA	0.527												
NUPL2	11097	broad.mit.edu	37	7	23224695	23224695	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:23224695A>G	uc003svu.2	+	2	387	c.128A>G	c.(127-129)AAT>AGT	p.N43S	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Intron|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	43					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						TTAGGTAATAATAGACGTGGA	0.279												
GPNMB	10457	broad.mit.edu	37	7	23293054	23293054	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:23293054A>G	uc003swc.2	+	2	360	c.199A>G	c.(199-201)ATG>GTG	p.M67V	GPNMB_uc003swa.2_Missense_Mutation_p.M67V|GPNMB_uc003swb.2_Missense_Mutation_p.M67V|GPNMB_uc011jyy.1_Missense_Mutation_p.M67V|GPNMB_uc011jyz.1_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	67	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			GCGGGGAGACATGAGGTGGAA	0.418												
CPVL	54504	broad.mit.edu	37	7	29111511	29111511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29111511C>T	uc003szv.2	-	9	861	c.742G>A	c.(742-744)GGC>AGC	p.G248S	CPVL_uc003szw.2_Missense_Mutation_p.G248S|CPVL_uc003szx.2_Missense_Mutation_p.G248S	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	248					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TCTGCATAGCCCCCTATAATC	0.408												
CPVL	54504	broad.mit.edu	37	7	29152370	29152370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29152370C>T	uc003szv.2	-	3	357	c.238G>A	c.(238-240)GTG>ATG	p.V80M	CPVL_uc003szw.2_Missense_Mutation_p.V80M|CPVL_uc003szx.2_Missense_Mutation_p.V80M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	80					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						GTCTTATTCACGGTGAGGAAG	0.478												
SCRN1	9805	broad.mit.edu	37	7	29994974	29994974	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:29994974G>A	uc010kvp.2	-	2	366	c.162C>T	c.(160-162)TGC>TGT	p.C54C	SCRN1_uc011jzy.1_5'UTR|SCRN1_uc003tak.2_Silent_p.C54C|SCRN1_uc011jzz.1_Silent_p.C54C|SCRN1_uc011kaa.1_Silent_p.C74C|SCRN1_uc011jzw.1_5'UTR|SCRN1_uc011jzx.1_Intron	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	54					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						AAATGTAAGTGCACTGAAAAA	0.458												
NOD1	10392	broad.mit.edu	37	7	30492144	30492144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:30492144G>A	uc003tav.2	-	6	1412	c.889C>T	c.(889-891)CGC>TGC	p.R297C	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	297	NACHT.				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						TCAGGCACGCGGCTCAGGTCC	0.662												
ADCYAP1R1	117	broad.mit.edu	37	7	31126133	31126133	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:31126133T>C	uc003tca.1	+	10	1028	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Y248H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Y269H|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	269	Helical; Name=4; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CTTCTACTGGTACACCATCAT	0.532												
PDE1C	5137	broad.mit.edu	37	7	31855637	31855637	+	Missense_Mutation	SNP	T	T	C	rs141465381	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:31855637T>C	uc003tcm.1	-	15	2183	c.1714A>G	c.(1714-1716)ACT>GCT	p.T572A	PDE1C_uc003tcn.1_Missense_Mutation_p.T572A|PDE1C_uc003tco.1_Missense_Mutation_p.T632A|PDE1C_uc003tcr.2_Missense_Mutation_p.T572A|PDE1C_uc003tcs.2_Missense_Mutation_p.T572A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	572					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGATTCTTAGTTTCTCCAGAC	0.502												
AOAH	313	broad.mit.edu	37	7	36713584	36713584	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:36713584A>G	uc003tfh.3	-	3	655	c.254T>C	c.(253-255)TTA>TCA	p.L85S	AOAH_uc010kxf.2_Missense_Mutation_p.L85S|AOAH_uc011kba.1_Missense_Mutation_p.L53S	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	85	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GTCAATGACTAAATAGCAGGT	0.333												
AMPH	273	broad.mit.edu	37	7	38431519	38431519	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:38431519C>T	uc003tgu.2	-	19	1777	c.1708G>A	c.(1708-1710)GAG>AAG	p.E570K	AMPH_uc003tgv.2_Missense_Mutation_p.E528K|AMPH_uc003tgt.2_Missense_Mutation_p.E455K|AMPH_uc003tgw.1_Missense_Mutation_p.E593K|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	570					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCCGCGTCCTCGGTGGTCTCC	0.597												
GLI3	2737	broad.mit.edu	37	7	42005485	42005485	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:42005485C>T	uc011kbh.1	-	15	3277	c.3186G>A	c.(3184-3186)TCG>TCA	p.S1062S	GLI3_uc011kbg.1_Silent_p.S1003S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1062					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GACAGGGGGACGAGTGGAAGT	0.642									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42006006	42006006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:42006006C>T	uc011kbh.1	-	15	2756	c.2665G>A	c.(2665-2667)GTG>ATG	p.V889M	GLI3_uc011kbg.1_Missense_Mutation_p.V830M	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	889					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCCACGCTCACGTTCTGCGGC	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43351483	43351483	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43351483A>G	uc003tid.1	+	4	754	c.149A>G	c.(148-150)AAC>AGC	p.N50S	HECW1_uc011kbi.1_Missense_Mutation_p.N50S|HECW1_uc003tie.1_Missense_Mutation_p.N82S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	50					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						CAGTTCCACAACATGGACCTC	0.647												
HECW1	23072	broad.mit.edu	37	7	43484721	43484721	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43484721G>A	uc003tid.1	+	11	2555	c.1950G>A	c.(1948-1950)ACG>ACA	p.T650T	HECW1_uc011kbi.1_Silent_p.T650T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	650					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						ATGGCGACACGCACCCCAGCA	0.716												
BLVRA	644	broad.mit.edu	37	7	43840132	43840132	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:43840132G>A	uc003tir.2	+	6	504	c.421G>A	c.(421-423)GTG>ATG	p.V141M	BLVRA_uc010kxv.2_Missense_Mutation_p.V141M	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	141					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	AAAAGAAGTGGTGGGGAAAGA	0.478												
ABCA13	154664	broad.mit.edu	37	7	48312524	48312524	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:48312524C>T	uc003toq.2	+	17	3286	c.3261C>T	c.(3259-3261)TTC>TTT	p.F1087F	ABCA13_uc010kyr.2_Silent_p.F590F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1087					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GCCAATTCTTCAACAGTTCAG	0.343												
GUSB	2990	broad.mit.edu	37	7	65439552	65439552	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:65439552A>G	uc003tun.2	-	7	1281	c.1205T>C	c.(1204-1206)GTG>GCG	p.V402A	GUSB_uc011kdt.1_Missense_Mutation_p.V256A	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	402					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						ATCGATGACCACAATCCCATA	0.627												
GTF2IRD1	9569	broad.mit.edu	37	7	73933830	73933830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:73933830C>T	uc003uaq.2	+	6	1090	c.697C>T	c.(697-699)CAT>TAT	p.H233Y	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.H265Y|GTF2IRD1_uc003uap.2_Missense_Mutation_p.H233Y|GTF2IRD1_uc003uar.1_Missense_Mutation_p.H233Y	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	233						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTGTGGCCTGCATGGCCAGGC	0.667												
POR	5447	broad.mit.edu	37	7	75613126	75613126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:75613126A>G	uc003udy.2	+	10	1100	c.1018A>G	c.(1018-1020)ATC>GTC	p.I340V	POR_uc011kgc.1_Missense_Mutation_p.I148V|POR_uc011kgd.1_Missense_Mutation_p.I239V|POR_uc011kge.1_Missense_Mutation_p.I78V|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	337	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GCTGGGCAAAATCCTGGGTGC	0.637												
POR	5447	broad.mit.edu	37	7	75614412	75614412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:75614412C>T	uc003udy.2	+	12	1367	c.1285C>T	c.(1285-1287)CAC>TAC	p.H429Y	POR_uc011kgc.1_Missense_Mutation_p.H237Y|POR_uc011kgd.1_Missense_Mutation_p.H328Y|POR_uc011kge.1_Missense_Mutation_p.H167Y|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	426	FAD-binding FR-type.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GGCCCGGAGGCACATCCTGGC	0.682												
ZP3	7784	broad.mit.edu	37	7	76062948	76062948	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:76062948A>G	uc003ufd.3	+	4	707	c.697A>G	c.(697-699)ATC>GTC	p.I233V	ZP3_uc003ufc.3_Missense_Mutation_p.I182V|ZP3_uc003ufe.2_Missense_Mutation_p.I141V	NM_001110354	NP_001103824	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 isoform 1	233	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding				0						TTATCACACCATCGTGGACTT	0.522												
PTPN12	5782	broad.mit.edu	37	7	77210806	77210806	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:77210806G>A	uc003ugh.2	+	3	362	c.271G>A	c.(271-273)GCA>ACA	p.A91T	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_Intron|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	91	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						CTATATCAATGCAAATTTTAT	0.289												
PHTF2	57157	broad.mit.edu	37	7	77567056	77567056	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:77567056C>T	uc003ugs.3	+	12	1494	c.1368C>T	c.(1366-1368)CAC>CAT	p.H456H	PHTF2_uc003ugp.2_Silent_p.H418H|PHTF2_uc003ugq.3_Silent_p.H418H|PHTF2_uc010ldv.2_Silent_p.H418H|PHTF2_uc003ugt.3_Silent_p.H422H|PHTF2_uc003ugu.3_Silent_p.H418H|PHTF2_uc003ugv.2_Silent_p.H281H|PHTF2_uc010ldw.1_Intron	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						ATAGTTCCCACCCAGGATTAG	0.284												
CD36	948	broad.mit.edu	37	7	80295776	80295776	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:80295776A>G	uc003uhc.2	+	11	1403	c.719A>G	c.(718-720)GAA>GGA	p.E240G	CD36_uc003uhd.3_Missense_Mutation_p.E240G|CD36_uc011kgv.1_Missense_Mutation_p.E164G|CD36_uc003uhe.3_Missense_Mutation_p.E240G|CD36_uc003uhf.3_Missense_Mutation_p.E240G|CD36_uc003uhg.3_Missense_Mutation_p.E240G|CD36_uc003uhh.3_Missense_Mutation_p.E240G	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	240	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1						TCCTATTGGGAAAGTCACTGC	0.328												
PCLO	27445	broad.mit.edu	37	7	82785212	82785212	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:82785212A>T	uc003uhx.2	-	2	1034	c.745T>A	c.(745-747)TCA>ACA	p.S249T	PCLO_uc003uhv.2_Missense_Mutation_p.S249T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	249	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						GGAGGTTGTGATTTAATTTTT	0.488												
SEMA3A	10371	broad.mit.edu	37	7	83758471	83758471	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:83758471C>T	uc003uhz.2	-	3	616	c.301G>A	c.(301-303)GAT>AAT	p.D101N		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	101	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTGCATTCATCTCTTCTGGTG	0.289												
GRM3	2913	broad.mit.edu	37	7	86416344	86416344	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:86416344T>C	uc003uid.2	+	3	2335	c.1236T>C	c.(1234-1236)TGT>TGC	p.C412C	GRM3_uc010lef.2_Silent_p.C410C|GRM3_uc010leg.2_Silent_p.C284C|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	412	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCACCCTCTGTCCCAACACTA	0.488												
ABCB1	5243	broad.mit.edu	37	7	87173466	87173466	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87173466T>C	uc003uiz.1	-	18	2608	c.2190A>G	c.(2188-2190)ATA>ATG	p.I730M	ABCB1_uc011khc.1_Missense_Mutation_p.I666M	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	730	ABC transmembrane type-1 2.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGAAAATATTATTGCAAATG	0.358												
ADAM22	53616	broad.mit.edu	37	7	87780626	87780626	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87780626T>C	uc003ujn.2	+	20	1751	c.1672T>C	c.(1672-1674)TGG>CGG	p.W558R	ADAM22_uc003ujk.1_Missense_Mutation_p.W558R|ADAM22_uc003ujl.1_Missense_Mutation_p.W558R|ADAM22_uc003ujm.2_Missense_Mutation_p.W558R|ADAM22_uc003ujo.2_Missense_Mutation_p.W558R|ADAM22_uc003ujp.1_Missense_Mutation_p.W610R	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	558	Cys-rich.|Extracellular (Potential).				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			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATACATTTGGGGGCAAAG	0.398												
C7orf63	79846	broad.mit.edu	37	7	89939383	89939383	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:89939383T>C	uc010lep.2	+	23	2908	c.2657T>C	c.(2656-2658)GTG>GCG	p.V886A	C7orf63_uc011khj.1_Missense_Mutation_p.V868A|C7orf63_uc011khk.1_Missense_Mutation_p.V402A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	886							binding			ovary(1)	1						CCTTTTTAGGTGCCCTCTGGT	0.393												
CLDN12	9069	broad.mit.edu	37	7	90042450	90042450	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90042450G>T	uc003ukp.2	+	5	1096	c.460G>T	c.(460-462)GTC>TTC	p.V154F	CLDN12_uc003ukq.2_Missense_Mutation_p.V154F|CLDN12_uc010leq.2_Missense_Mutation_p.V154F|CLDN12_uc003ukr.2_Missense_Mutation_p.V154F|CLDN12_uc003uks.2_Missense_Mutation_p.V154F	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	154	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						ATCTATCTGGGTCATCTTTTA	0.473												
CDK14	5218	broad.mit.edu	37	7	90546964	90546964	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90546964T>C	uc003uky.2	+	8	973	c.751T>C	c.(751-753)TAT>CAT	p.Y251H	CDK14_uc003ukz.1_Missense_Mutation_p.Y233H|CDK14_uc010les.1_Missense_Mutation_p.Y205H|CDK14_uc011khl.1_Missense_Mutation_p.Y122H	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	251	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						CCACCAGCGTTATATTTTGCA	0.413												
FZD1	8321	broad.mit.edu	37	7	90894774	90894774	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:90894774C>A	uc003ula.2	+	1	992	c.579C>A	c.(577-579)CGC>CGA	p.R193R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	193	FZ.|Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGTGCGAGCGCGCGCGCCAGG	0.662												
AKAP9	10142	broad.mit.edu	37	7	91736658	91736658	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:91736658A>G	uc003ulg.2	+	48	11693	c.11468A>G	c.(11467-11469)TAT>TGT	p.Y3823C	AKAP9_uc003ulf.2_Missense_Mutation_p.Y3815C|AKAP9_uc003uli.2_Missense_Mutation_p.Y3446C|AKAP9_uc003ulj.2_Missense_Mutation_p.Y1593C|AKAP9_uc003ull.2_Missense_Mutation_p.Y719C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3827					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)			CTGGAGTTATATGGAGAACCA	0.373			T	BRAF	papillary thyroid							
SAMD9	54809	broad.mit.edu	37	7	92732009	92732009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92732009C>T	uc003umf.2	-	3	3658	c.3402G>A	c.(3400-3402)TGG>TGA	p.W1134*	SAMD9_uc003umg.2_Nonsense_Mutation_p.W1134*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1134						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCTCTATCCACCATCTTA	0.373												
SAMD9L	219285	broad.mit.edu	37	7	92761452	92761452	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92761452A>G	uc003umh.1	-	5	5049	c.3833T>C	c.(3832-3834)CTG>CCG	p.L1278P	SAMD9L_uc003umj.1_Missense_Mutation_p.L1278P|SAMD9L_uc003umi.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfb.1_Missense_Mutation_p.L1278P|SAMD9L_uc003umk.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfc.1_Missense_Mutation_p.L1278P|SAMD9L_uc010lfd.1_Missense_Mutation_p.L1278P|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										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)			CCTCATTTTCAGAAGAACCAT	0.328												
SAMD9L	219285	broad.mit.edu	37	7	92763789	92763789	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:92763789T>C	uc003umh.1	-	5	2712	c.1496A>G	c.(1495-1497)AAC>AGC	p.N499S	SAMD9L_uc003umj.1_Missense_Mutation_p.N499S|SAMD9L_uc003umi.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfb.1_Missense_Mutation_p.N499S|SAMD9L_uc003umk.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfc.1_Missense_Mutation_p.N499S|SAMD9L_uc010lfd.1_Missense_Mutation_p.N499S|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	499										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)			TGATCTGCCGTTGCAGAAAAT	0.388												
COL1A2	1278	broad.mit.edu	37	7	94057063	94057063	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:94057063A>C	uc003ung.1	+	49	3863	c.3392A>C	c.(3391-3393)AAG>ACG	p.K1131T	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1131					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCAGACCCAAGGACTATGAA	0.517										HNSCC(75;0.22)		
SLC25A13	10165	broad.mit.edu	37	7	95751045	95751045	+	Missense_Mutation	SNP	C	C	T	rs121908532		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:95751045C>T	uc003uof.3	-	17	1954	c.1763G>A	c.(1762-1764)CGA>CAA	p.R588Q	SLC25A13_uc003uog.3_Missense_Mutation_p.R589Q|SLC25A13_uc011kik.1_Missense_Mutation_p.R480Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	588	Solcar 3.|Helical; Name=6; (Potential).				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGTGAGGATCGAAATACACG	0.338												
SLC25A13	10165	broad.mit.edu	37	7	95864143	95864143	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:95864143T>C	uc003uof.3	-	4	490	c.299A>G	c.(298-300)GAC>GGC	p.D100G	SLC25A13_uc003uog.3_Missense_Mutation_p.D100G|SLC25A13_uc011kik.1_Intron	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	100	EF-hand 2.|2.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GCCAGCTTTGTCAAACAGCTG	0.383												
TECPR1	25851	broad.mit.edu	37	7	97866138	97866138	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:97866138C>T	uc003upg.2	-	10	1336	c.1131G>A	c.(1129-1131)GCG>GCA	p.A377A	TECPR1_uc003uph.1_Silent_p.A307A	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	377						integral to membrane	protein binding			pancreas(1)	1						ACTCTCGGGCCGCGATGATGG	0.647												
TRRAP	8295	broad.mit.edu	37	7	98552728	98552728	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98552728A>G	uc003upp.2	+	40	5926	c.5717A>G	c.(5716-5718)CAT>CGT	p.H1906R	TRRAP_uc011kis.1_Missense_Mutation_p.H1888R|TRRAP_uc003upr.2_Missense_Mutation_p.H1605R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1906					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)			TAGGTTTTTCATAGTCTCCTC	0.517												
TRRAP	8295	broad.mit.edu	37	7	98589802	98589802	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98589802A>G	uc003upp.2	+	64	10020	c.9811A>G	c.(9811-9813)ACC>GCC	p.T3271A	TRRAP_uc011kis.1_Missense_Mutation_p.T3242A|TRRAP_uc003upr.2_Missense_Mutation_p.T2959A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3271	FAT.				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)			TCCCATCCGGACCCTGTACCT	0.567												
ARPC1A	10552	broad.mit.edu	37	7	98957253	98957253	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:98957253G>A	uc003upx.1	+	8	1022	c.875G>A	c.(874-876)AGC>AAC	p.S292N	ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.S278N|ARPC1A_uc011kit.1_RNA	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex subunit 1A	292					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAAACAGAGCATCCAACGC	0.527												
CPSF4	10898	broad.mit.edu	37	7	99042427	99042427	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99042427T>C	uc003uqj.2	+	2	262	c.119T>C	c.(118-120)GTC>GCC	p.V40A	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.V40A|CPSF4_uc003uqk.2_Missense_Mutation_p.V40A|CPSF4_uc011kix.1_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	40	C3H1-type 1.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGCGCTGCTGTCTGTGAATTC	0.542												
ZNF498	221785	broad.mit.edu	37	7	99219142	99219142	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99219142C>T	uc003url.1	+	5	861	c.534C>T	c.(532-534)ACC>ACT	p.T178T	ZNF498_uc003urm.1_Silent_p.T14T|ZNF498_uc010lge.1_Silent_p.T14T|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Silent_p.T178T|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	178					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCCAGGTACCGAGGAGCAGC	0.607												
CYP3A7	1551	broad.mit.edu	37	7	99305499	99305499	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99305499T>C	uc003uru.2	-	12	1457	c.1352A>G	c.(1351-1353)AAC>AGC	p.N451S	ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	451					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAGTTTCATGTTCACGAGAGC	0.383												
TAF6	6878	broad.mit.edu	37	7	99705994	99705994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99705994G>A	uc003uti.2	-	13	1535	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.T407M|TAF6_uc003uth.2_Missense_Mutation_p.T542M|TAF6_uc003utk.2_Missense_Mutation_p.T485M|TAF6_uc011kji.1_Missense_Mutation_p.T522M|TAF6_uc003utj.2_Missense_Mutation_p.T475M|TAF6_uc003utl.2_Intron|TAF6_uc003utm.2_Missense_Mutation_p.T485M	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	485					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGACCTGCGTGATGGTCAG	0.642												
GAL3ST4	79690	broad.mit.edu	37	7	99757831	99757831	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99757831G>A	uc003utt.2	-	3	2198	c.1181C>T	c.(1180-1182)GCC>GTC	p.A394V	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.A394V|GAL3ST4_uc010lgq.2_Missense_Mutation_p.A332V	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	394	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGAGCTCGGCCACAGCTGT	0.612												
AGFG2	3268	broad.mit.edu	37	7	100160555	100160555	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100160555A>C	uc003uvf.2	+	9	1293	c.1157A>C	c.(1156-1158)AAT>ACT	p.N386T	AGFG2_uc010lgy.2_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	386	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						TTCCAGCCCAATGGCTTGGCG	0.602												
LRCH4	4034	broad.mit.edu	37	7	100172795	100172795	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100172795C>T	uc003uvj.2	-	18	2040	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	uc003uvh.2_5'Flank|LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_3'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	663					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TAGAAGACGACGAAGCCGCCC	0.682												
TFR2	7036	broad.mit.edu	37	7	100218519	100218519	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100218519C>T	uc003uvv.1	-	18	2408	c.2367G>A	c.(2365-2367)GCG>GCA	p.A789A	TFR2_uc010lhc.1_Silent_p.A330A|TFR2_uc003uvu.1_Silent_p.A618A	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	789	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGCTAAGCGCATTGGCTG	0.632												
GIGYF1	64599	broad.mit.edu	37	7	100285025	100285025	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100285025G>A	uc003uwg.1	-	5	1387	c.378C>T	c.(376-378)CGC>CGT	p.R126R		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	126										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CACCACGGCCGCGGCCTAGAG	0.612												
ZAN	7455	broad.mit.edu	37	7	100352870	100352870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100352870G>A	uc003uwj.2	+	15	3311	c.3146G>A	c.(3145-3147)CGC>CAC	p.R1049H	ZAN_uc003uwk.2_Missense_Mutation_p.R1049H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1049	TIL 1.|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)			CCAAATGCCCGCTACGAATCC	0.572												
EPHB4	2050	broad.mit.edu	37	7	100414922	100414922	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100414922G>A	uc003uwn.1	-	8	1971	c.1480C>T	c.(1480-1482)CTG>TTG	p.L494L	EPHB4_uc003uwm.1_Silent_p.L401L|EPHB4_uc010lhj.1_Silent_p.L494L|EPHB4_uc011kkf.1_Silent_p.L494L|EPHB4_uc011kkg.1_Missense_Mutation_p.A289V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	494	Extracellular (Potential).|Fibronectin type-III 2.				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)					AGCCCCCGCAGCTCTGCCCGG	0.692												
ZNHIT1	10467	broad.mit.edu	37	7	100866977	100866977	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:100866977T>C	uc003uye.2	+	4	789	c.297T>C	c.(295-297)CCT>CCC	p.P99P	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	99							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGAGGGCCCTAACTACCTGA	0.677												
DNAJC2	27000	broad.mit.edu	37	7	102962467	102962467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:102962467C>T	uc003vbo.2	-	10	1246	c.995G>A	c.(994-996)AGA>AAA	p.R332K	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.R332K|DNAJC2_uc003vbp.2_5'UTR	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	332					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						TGCTTGCTGTCTGACTTCCTC	0.378												
MLL5	55904	broad.mit.edu	37	7	104707214	104707214	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:104707214C>T	uc003vcm.2	+	6	991	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	MLL5_uc010lja.1_Missense_Mutation_p.H7Y|MLL5_uc010ljb.1_Missense_Mutation_p.H153Y|MLL5_uc003vcl.2_Missense_Mutation_p.H153Y|MLL5_uc010ljc.2_Missense_Mutation_p.H153Y	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	153	PHD-type.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TGATAGGCAGCATATTCCTGA	0.323												
PIK3CG	5294	broad.mit.edu	37	7	106513320	106513320	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:106513320T>C	uc003vdv.3	+	4	2309	c.2224T>C	c.(2224-2226)TTA>CTA	p.L742L	PIK3CG_uc003vdu.2_Silent_p.L742L|PIK3CG_uc003vdw.2_Silent_p.L742L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	742					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AATCGAGATGTTACAAAAAGT	0.453												
COG5	10466	broad.mit.edu	37	7	106964925	106964925	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:106964925A>G	uc003ved.2	-	11	1686	c.1161T>C	c.(1159-1161)GTT>GTC	p.V387V	COG5_uc003vec.2_Silent_p.V387V|COG5_uc003vee.2_Silent_p.V387V	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	387					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GTGCCTGAGTAACTGAATTCC	0.249												
GPR22	2845	broad.mit.edu	37	7	107114677	107114677	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:107114677A>G	uc003vef.2	+	3	1518	c.172A>G	c.(172-174)AGC>GGC	p.S58G	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	58	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2						GGGACTTGGCAGCAACCTCAC	0.358												
C7orf60	154743	broad.mit.edu	37	7	112535788	112535788	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:112535788G>A	uc003vgo.1	-	3	436	c.309C>T	c.(307-309)TGC>TGT	p.C103C	C7orf60_uc011kms.1_Silent_p.C129C	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	103										ovary(2)|skin(1)	3						AATATTCTCTGCATACACTAC	0.338												
PPP1R3A	5506	broad.mit.edu	37	7	113558625	113558625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:113558625T>C	uc010ljy.1	-	1	458	c.427A>G	c.(427-429)AAG>GAG	p.K143E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	143	CBM21.				glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATAATACCCTTGATACTTGTA	0.348												
CAV1	857	broad.mit.edu	37	7	116199315	116199315	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:116199315C>T	uc003vif.1	+	3	789	c.511C>T	c.(511-513)CGC>TGC	p.R171C	CAV1_uc010lkd.1_Missense_Mutation_p.R140C|CAV1_uc010lke.1_Missense_Mutation_p.R140C|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Missense_Mutation_p.R140C|CAV1_uc010lkf.1_Missense_Mutation_p.R140C	NM_001753	NP_001744	Q03135	CAV1_HUMAN	caveolin 1	171	Cytoplasmic (Potential).				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding				0	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CAGCAATGTCCGCATCAACTT	0.393												
ST7	7982	broad.mit.edu	37	7	116849978	116849978	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:116849978T>C	uc003vin.2	+	13	1606	c.1392T>C	c.(1390-1392)TGT>TGC	p.C464C	ST7_uc011knl.1_Silent_p.C441C|ST7_uc003vio.2_Silent_p.C441C|ST7_uc003viq.2_Silent_p.C418C|ST7_uc011knm.1_Silent_p.C421C|ST7_uc003vir.2_Splice_Site_p.S389_splice|ST7_uc011knn.1_Silent_p.C412C|ST7OT3_uc003viy.1_RNA	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	464						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTTTGCATTGTACGTGGGAAG	0.358												
CTTNBP2	83992	broad.mit.edu	37	7	117374995	117374995	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:117374995C>A	uc003vjf.2	-	16	3940	c.3848G>T	c.(3847-3849)AGG>ATG	p.R1283M		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1283										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)		TCGTAAGAACCTCTGCAGCAG	0.388												
CTTNBP2	83992	broad.mit.edu	37	7	117432544	117432544	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:117432544T>A	uc003vjf.2	-	4	798	c.706A>T	c.(706-708)ACT>TCT	p.T236S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	236	Potential.									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)		TCCCGCTCAGTGTCAAACTCA	0.448												
PTPRZ1	5803	broad.mit.edu	37	7	121651002	121651002	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:121651002A>G	uc003vjy.2	+	12	2297	c.1902A>G	c.(1900-1902)TCA>TCG	p.S634S	PTPRZ1_uc003vjz.2_Silent_p.S634S|PTPRZ1_uc011knt.1_Silent_p.S84S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	634	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CCGAAGATTCAACTTCATCAG	0.408												
PTPRZ1	5803	broad.mit.edu	37	7	121652965	121652965	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:121652965A>G	uc003vjy.2	+	12	4260	c.3865A>G	c.(3865-3867)AAT>GAT	p.N1289D	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1289	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TTTGTACAGTAATGATGAGTT	0.398												
SLC13A1	6561	broad.mit.edu	37	7	122821124	122821124	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:122821124A>G	uc003vkm.2	-	2	156	c.131T>C	c.(130-132)GTC>GCC	p.V44A	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	44	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	AAATGTGGCGACCACAAAGAG	0.428												
LMOD2	442721	broad.mit.edu	37	7	123302688	123302688	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:123302688A>G	uc003vky.2	+	2	1205	c.1048A>G	c.(1048-1050)AGA>GGA	p.R350G		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	350						cytoskeleton	actin binding|tropomyosin binding				0						CATTTTGACAAGAAATATGGA	0.478												
POT1	25913	broad.mit.edu	37	7	124467346	124467346	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:124467346T>C	uc003vlm.2	-	17	2209	c.1608A>G	c.(1606-1608)GTA>GTG	p.V536V	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Silent_p.V405V|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	536					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						ATTGGAGGGGTACAATACCCA	0.338												
LRRC4	64101	broad.mit.edu	37	7	127669233	127669233	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:127669233A>G	uc003vmk.2	-	2	1598	c.1461T>C	c.(1459-1461)TAT>TAC	p.Y487Y	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	487	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TAGAGGTGGTATATGCCGGCT	0.567												
CCDC136	64753	broad.mit.edu	37	7	128441250	128441250	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128441250T>C	uc003vnv.1	+	4	724	c.357T>C	c.(355-357)CGT>CGC	p.R119R	CCDC136_uc003vnu.1_Silent_p.R169R|CCDC136_uc003vnw.1_Silent_p.R119R|CCDC136_uc003vnx.1_5'UTR|CCDC136_uc010llq.1_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	119	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						GTGAGCTGCGTTCTCTACGGG	0.453												
FLNC	2318	broad.mit.edu	37	7	128486164	128486164	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128486164T>C	uc003vnz.3	+	22	4120	c.3911T>C	c.(3910-3912)GTG>GCG	p.V1304A	FLNC_uc003voa.3_Missense_Mutation_p.V1304A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1304	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GACACCTATGTGACAGACAAT	0.632												
PODXL	5420	broad.mit.edu	37	7	131191458	131191458	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131191458T>C	uc003vqw.3	-	6	1387	c.1129A>G	c.(1129-1131)ATC>GTC	p.I377V	PODXL_uc003vqx.3_Missense_Mutation_p.I345V	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	377	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					ATCAGTGAGATCAATTTCTCA	0.612											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLXNA4	91584	broad.mit.edu	37	7	131864640	131864640	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131864640T>C	uc003vra.3	-	20	3909	c.3680A>G	c.(3679-3681)TAC>TGC	p.Y1227C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1227	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CGGGGCAATGTACACCATCCC	0.642												
PLXNA4	91584	broad.mit.edu	37	7	131895801	131895801	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:131895801C>T	uc003vra.3	-	10	2428	c.2199G>A	c.(2197-2199)GGG>GGA	p.G733G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	733	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGCCACGCTGCCCAGACTGGG	0.622												
SLC35B4	84912	broad.mit.edu	37	7	133979830	133979830	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:133979830A>G	uc003vrn.2	-	10	1075	c.751T>C	c.(751-753)TAC>CAC	p.Y251H	SLC35B4_uc010lmk.2_Missense_Mutation_p.Y115H|SLC35B4_uc010lml.1_Intron	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	solute carrier family 35, member B4	251	Helical; (Potential).					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			skin(1)	1						ATGCACACGTACCTGGAGGAG	0.507												
NUP205	23165	broad.mit.edu	37	7	135333276	135333276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:135333276G>A	uc003vsw.2	+	43	6042	c.6011G>A	c.(6010-6012)CGT>CAT	p.R2004H	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	2004					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						AGACGTATCCGTGGCCTCTTG	0.393												
KIAA1549	57670	broad.mit.edu	37	7	138579128	138579128	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138579128A>C	uc011kql.1	-	10	4041	c.3992T>G	c.(3991-3993)TTT>TGT	p.F1331C	KIAA1549_uc011kqi.1_Missense_Mutation_p.F115C|KIAA1549_uc003vuk.3_Missense_Mutation_p.F1281C|KIAA1549_uc011kqj.1_Missense_Mutation_p.F1331C|KIAA1549_uc011kqk.1_Missense_Mutation_p.F115C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1331						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GTCAGGCTGAAAGTCTAGCTT	0.522			O	BRAF	pilocytic astrocytoma							
ZC3HAV1	56829	broad.mit.edu	37	7	138749712	138749712	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138749712A>G	uc003vun.2	-	8	2294	c.1906T>C	c.(1906-1908)TCA>CCA	p.S636P	ZC3HAV1_uc003vuo.2_Missense_Mutation_p.S97P|ZC3HAV1_uc003vup.2_Missense_Mutation_p.S636P	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	636	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						TCCAGGTATGAAGAGTCGACG	0.423												
HIPK2	28996	broad.mit.edu	37	7	139281496	139281496	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:139281496T>C	uc003vvf.3	-	12	2858	c.2684A>G	c.(2683-2685)GAC>GGC	p.D895G	HIPK2_uc003vvd.3_Missense_Mutation_p.D868G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	895	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			SDTD->ADTA: Loss of SUMO interaction, and impaired nuclear and PML-nuclear bodies localization.|DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CTCCTCCTCGTCCGTGTCACT	0.617												
HIPK2	28996	broad.mit.edu	37	7	139281517	139281517	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:139281517A>T	uc003vvf.3	-	12	2837	c.2663T>A	c.(2662-2664)ATC>AAC	p.I888N	HIPK2_uc003vvd.3_Missense_Mutation_p.I861N	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	888	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			VSVI->KSAK: Loss of SUMO interaction, and impaired nuclear and PML-nuclear bodies localization.|VSVITISS->KFMHFHRM: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GCTGATGGTGATGACGCTGAC	0.642												
ADCK2	90956	broad.mit.edu	37	7	140389471	140389471	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:140389471C>A	uc003vvy.1	+	6	1810	c.1632C>A	c.(1630-1632)ACC>ACA	p.T544T	ADCK2_uc003vvz.2_Silent_p.T544T	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	544	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					GGTTCAAAACCGAGATGGCCA	0.607												
BRAF	673	broad.mit.edu	37	7	140477841	140477841	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:140477841T>C	uc003vwc.3	-	12	1528	c.1467A>G	c.(1465-1467)GCA>GCG	p.A489A		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	489	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L485_P490>Y(2)|p.N486_P490del(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGTGTAGGTGCTGTCACAT	0.333		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
WEE2	494551	broad.mit.edu	37	7	141424039	141424039	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141424039A>G	uc003vwn.2	+	8	1591	c.1185A>G	c.(1183-1185)GGA>GGG	p.G395G	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	395	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TGGAAGAAGGAGATAGTCGCT	0.368												
TAS2R38	5726	broad.mit.edu	37	7	141672607	141672607	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141672607C>T	uc003vwx.1	-	1	967	c.883G>A	c.(883-885)GCC>ACC	p.A295T		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	295	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					ATCAGGATGGCTGCATGCCCA	0.542												
MGAM	8972	broad.mit.edu	37	7	141805634	141805634	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:141805634T>C	uc003vwy.2	+	48	5571	c.5517T>C	c.(5515-5517)ACT>ACC	p.T1839T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1839	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGATGTGACTGACAGAAACA	0.368												
TRPV6	55503	broad.mit.edu	37	7	142575704	142575704	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:142575704C>A	uc003wbx.1	-	2	420	c.204G>T	c.(202-204)GAG>GAT	p.E68D	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Translation_Start_Site	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	68	ANK 1.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CCTTGCAATCCTCATACTTGA	0.527												
EPHA1	2041	broad.mit.edu	37	7	143091397	143091397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:143091397T>C	uc003wcz.2	-	15	2479	c.2392A>G	c.(2392-2394)ATT>GTT	p.I798V		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	798	Protein kinase.|Cytoplasmic (Potential).					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)				CGATGGGCAATGGCTTCAGGG	0.547												
ARHGEF5	7984	broad.mit.edu	37	7	144077125	144077125	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:144077125A>G	uc003wel.2	+	15	4888	c.4770A>G	c.(4768-4770)CTA>CTG	p.L1590L	ARHGEF5_uc003wem.2_Silent_p.L391L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1590					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					CTGCCAAACTACAGCTGGTGG	0.542												
CNTNAP2	26047	broad.mit.edu	37	7	146829377	146829377	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:146829377C>A	uc003weu.1	+	8	1640	c.1124C>A	c.(1123-1125)CCT>CAT	p.P375H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	375	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATACGGTGCCTGTCTTTTTC	0.453										HNSCC(39;0.1)		
CNTNAP2	26047	broad.mit.edu	37	7	148112646	148112646	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148112646A>G	uc003weu.1	+	24	4450	c.3934A>G	c.(3934-3936)ATG>GTG	p.M1312V	CNTNAP2_uc003wev.1_Missense_Mutation_p.M89V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1312	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCGCCATCATGAACAACGA	0.552										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148489850	148489850	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148489850G>A	uc010lpg.2	+	17	2365	c.1839G>A	c.(1837-1839)CAG>CAA	p.Q613Q	CUL1_uc003wey.2_Silent_p.Q613Q|CUL1_uc003wez.2_Silent_p.Q503Q|CUL1_uc003wfa.2_Silent_p.Q274Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	613					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCTGCTTCAGTACAACACGG	0.453												
ZNF786	136051	broad.mit.edu	37	7	148768111	148768111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148768111G>A	uc003wfh.2	-	4	1890	c.1753C>T	c.(1753-1755)CGC>TGC	p.R585C	ZNF786_uc011kuk.1_Missense_Mutation_p.R548C|ZNF786_uc003wfi.2_Missense_Mutation_p.R499C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	585	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTGCACGCGCAAGTGCTCC	0.642												
ZNF398	57541	broad.mit.edu	37	7	148876131	148876131	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148876131C>A	uc003wfl.2	+	6	1442	c.1167C>A	c.(1165-1167)TCC>TCA	p.S389S	ZNF398_uc011kul.1_Silent_p.S218S|ZNF398_uc011kum.1_Silent_p.S394S	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	389	C2H2-type 2; degenerate.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCAGCACCTCCCAGGACCATG	0.572												
ZNF282	8427	broad.mit.edu	37	7	148921393	148921393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:148921393G>A	uc003wfm.2	+	8	1775	c.1670G>A	c.(1669-1671)TGC>TAC	p.C557Y	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_Missense_Mutation_p.A234T	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	557	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		AGCTTCAACTGCCACTCGGGC	0.642												
ZNF862	643641	broad.mit.edu	37	7	149545162	149545162	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149545162G>A	uc010lpn.2	+	4	772	c.580G>A	c.(580-582)GCG>ACG	p.A194T	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	194	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CAAATACCACGCGAAGAGCAA	0.547												
ZNF862	643641	broad.mit.edu	37	7	149559482	149559482	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149559482A>G	uc010lpn.2	+	7	3425	c.3233A>G	c.(3232-3234)TAC>TGC	p.Y1078C	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GTCACGGAGTACGACCCCCAG	0.622												
SMARCD3	6604	broad.mit.edu	37	7	150936822	150936822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:150936822G>A	uc003wjs.2	-	11	1285	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M	SMARCD3_uc003wjt.2_Missense_Mutation_p.T382M|SMARCD3_uc003wju.2_Missense_Mutation_p.T382M	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	395					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACTCAATCGTCTCATGGAT	0.547												
NUB1	51667	broad.mit.edu	37	7	151074269	151074269	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:151074269A>G	uc003wjx.2	+	15	1883	c.1878A>G	c.(1876-1878)CTA>CTG	p.L626L	NUB1_uc003wjw.2_Silent_p.L588L|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	602					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGAGTACCTATCCTATGTAG	0.358												
XRCC2	7516	broad.mit.edu	37	7	152345981	152345981	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:152345981T>C	uc003wld.2	-	3	675	c.589A>G	c.(589-591)ACT>GCT	p.T197A		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	197					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TGCATTATAGTTTGTGTCGTT	0.438								Homologous_recombination				
PAXIP1	22976	broad.mit.edu	37	7	154738278	154738278	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:154738278A>G	uc003wlp.2	-	19	3120	c.3077T>C	c.(3076-3078)TTA>TCA	p.L1026S	LOC100132707_uc011kvr.1_Intron|LOC100132707_uc003wlo.2_Intron|PAXIP1_uc003wlq.1_Missense_Mutation_p.L992S|PAXIP1_uc011kvs.1_Missense_Mutation_p.L990S	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	1026	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACAGGATATTAAAATTATTTC	0.448												
RNF32	140545	broad.mit.edu	37	7	156437236	156437236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:156437236C>T	uc003wmo.2	+	3	241	c.59C>T	c.(58-60)GCT>GTT	p.A20V	RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.A20V|RNF32_uc003wmp.2_Missense_Mutation_p.A20V|RNF32_uc003wmq.2_Missense_Mutation_p.A20V|RNF32_uc003wmr.2_Missense_Mutation_p.A20V|RNF32_uc003wms.2_Missense_Mutation_p.A20V|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.A20V	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	20						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AATGCAGTTGCTTTACAAGAT	0.308												
NOM1	64434	broad.mit.edu	37	7	156742867	156742867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:156742867C>T	uc003wmy.2	+	1	451	c.436C>T	c.(436-438)CCG>TCG	p.P146S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	146	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGCCGCGGCCGTCCCGGGT	0.736												
WDR60	55112	broad.mit.edu	37	7	158726880	158726880	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:158726880G>A	uc003woe.3	+	22	2765	c.2607G>A	c.(2605-2607)CTG>CTA	p.L869L	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L501L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	869										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTAAATTTCTGCCTTCAGATC	0.328												
ERICH1	157697	broad.mit.edu	37	8	623717	623717	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:623717T>C	uc003wph.2	-	4	700	c.635A>G	c.(634-636)GAC>GGC	p.D212G	ERICH1_uc011kwh.1_Missense_Mutation_p.D212G|ERICH1_uc003wpe.1_Missense_Mutation_p.D118G|ERICH1_uc003wpi.2_Missense_Mutation_p.D24G	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	212	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTCGCTGGTGTCCACACCATC	0.597												
DLGAP2	9228	broad.mit.edu	37	8	1497659	1497659	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1497659A>G	uc003wpl.2	+	2	897	c.800A>G	c.(799-801)AAC>AGC	p.N267S	DLGAP2_uc003wpm.2_Missense_Mutation_p.N267S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	346					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAGAGCAACAACGACGTCAAG	0.667												
DLGAP2	9228	broad.mit.edu	37	8	1497743	1497743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1497743C>T	uc003wpl.2	+	2	981	c.884C>T	c.(883-885)ACG>ATG	p.T295M	DLGAP2_uc003wpm.2_Missense_Mutation_p.T295M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	374					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCTACGCTGACGGTCAGCCAG	0.652												
DLGAP2	9228	broad.mit.edu	37	8	1649450	1649450	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:1649450C>T	uc003wpl.2	+	12	2903	c.2806C>T	c.(2806-2808)CGC>TGC	p.R936C	DLGAP2_uc003wpm.2_Missense_Mutation_p.R922C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	1015					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGACAGACAACGCCAGGAAGC	0.602												
MCPH1	79648	broad.mit.edu	37	8	6302632	6302632	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:6302632C>T	uc003wqi.2	+	8	1457	c.1389C>T	c.(1387-1389)TGC>TGT	p.C463C	MCPH1_uc003wqh.2_Silent_p.C463C|MCPH1_uc011kwl.1_Silent_p.C415C	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	463						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443												
CLDN23	137075	broad.mit.edu	37	8	8560311	8560311	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:8560311T>C	uc003wsi.2	+	1	646	c.403T>C	c.(403-405)TAC>CAC	p.Y135H		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	135	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GGTGTCCTGGTACAACCACTT	0.697												
XKR6	286046	broad.mit.edu	37	8	10782233	10782233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:10782233C>T	uc003wtk.1	-	2	899	c.872G>A	c.(871-873)CGC>CAC	p.R291H		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	291						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCCAGGAGGCGCAGCATGTT	0.567												
NEIL2	252969	broad.mit.edu	37	8	11637208	11637208	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11637208G>A	uc003wug.2	+	3	915	c.240G>A	c.(238-240)AAG>AAA	p.K80K	NEIL2_uc003wue.2_Silent_p.K80K|NEIL2_uc003wuf.2_Silent_p.K19K|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	80					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AAGTGCAGAAGGAAGGGGCTG	0.567								BER_DNA_glycosylases				
NEIL2	252969	broad.mit.edu	37	8	11637331	11637331	+	Silent	SNP	C	C	T	rs143923741		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11637331C>T	uc003wug.2	+	3	1038	c.363C>T	c.(361-363)GAC>GAT	p.D121D	NEIL2_uc003wue.2_Silent_p.D121D|NEIL2_uc003wuf.2_Silent_p.D60D|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	121					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGAGAGAGACGCCCCTGCAG	0.577								BER_DNA_glycosylases				
USP17L2	377630	broad.mit.edu	37	8	11995417	11995417	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:11995417C>A	uc003wvc.1	-	1	853	c.853G>T	c.(853-855)GAT>TAT	p.D285Y	FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	285					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)	3						CCTGTGACATCGGAGAATCTC	0.488												
C8orf79	57604	broad.mit.edu	37	8	12878636	12878636	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:12878636C>T	uc010lsq.2	+	5	940	c.448C>T	c.(448-450)CAC>TAC	p.H150Y	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.H63Y|C8orf79_uc010lsr.2_Missense_Mutation_p.H24Y	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	150							methyltransferase activity				0						AAAGAACCGTCACTTTGAGAA	0.478												
TUSC3	7991	broad.mit.edu	37	8	15508249	15508249	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:15508249T>G	uc003wwt.2	+	3	562	c.352T>G	c.(352-354)TAT>GAT	p.Y118D	TUSC3_uc003wwr.2_Missense_Mutation_p.Y118D|TUSC3_uc003wws.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwu.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwv.2_Missense_Mutation_p.Y118D|TUSC3_uc003www.2_Missense_Mutation_p.Y118D|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.Y118D	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	118					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		CTCCTGGCGCTATTCATCTGC	0.393												
ZDHHC2	51201	broad.mit.edu	37	8	17053124	17053124	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17053124A>G	uc003wxe.2	+	4	761	c.364A>G	c.(364-366)ATG>GTG	p.M122V		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	122						integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TACCAGGACCATGTCTGGAGG	0.413												
MTUS1	57509	broad.mit.edu	37	8	17601244	17601244	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17601244A>G	uc003wxv.2	-	3	2630	c.2156T>C	c.(2155-2157)TTG>TCG	p.L719S	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L719S|MTUS1_uc010lsz.2_Missense_Mutation_p.L719S	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	719						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TATTTGCCTCAAACCGCAGGA	0.453												
PCM1	5108	broad.mit.edu	37	8	17810504	17810504	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:17810504G>A	uc003wyi.3	+	9	1519	c.1097G>A	c.(1096-1098)AGA>AAA	p.R366K	PCM1_uc011kyh.1_Missense_Mutation_p.R366K|PCM1_uc003wyj.3_Missense_Mutation_p.R366K|PCM1_uc003wyg.2_Missense_Mutation_p.R366K|PCM1_uc003wyh.2_Missense_Mutation_p.R405K|PCM1_uc010lta.1_Missense_Mutation_p.R405K	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	366					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		GACAATAGAAGACAGGCAGAA	0.353			T	RET|JAK2	papillary thyroid|CML|MPD							
CSGALNACT1	55790	broad.mit.edu	37	8	19363333	19363333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:19363333G>A	uc011kyn.1	-	4	1077	c.13C>T	c.(13-15)CGC>TGC	p.R5C	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R5C|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R4C|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	5	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		AGCCCCCGGCGAACCATCATC	0.602												
SLC18A1	6570	broad.mit.edu	37	8	20038350	20038350	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:20038350A>G	uc011kyq.1	-	3	595	c.124_splice	c.e3+1	p.V42_splice	SLC18A1_uc003wzm.2_Splice_Site_p.V42_splice|SLC18A1_uc011kyr.1_Splice_Site_p.V42_splice|SLC18A1_uc003wzn.2_Splice_Site_p.V42_splice|SLC18A1_uc010ltf.2_Splice_Site|SLC18A1_uc003wzo.2_Splice_Site_p.V42_splice	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),						neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		CCACAAACGTACCCACCACAG	0.547												
LZTS1	11178	broad.mit.edu	37	8	20110740	20110740	+	Silent	SNP	G	G	A	rs146205759		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:20110740G>A	uc003wzr.2	-	2	813	c.702C>T	c.(700-702)GAC>GAT	p.D234D	LZTS1_uc010ltg.1_Silent_p.D234D	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	234					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCTACCTCCGTCGGAGAAGG	0.627												
FGF17	8822	broad.mit.edu	37	8	21904139	21904139	+	Missense_Mutation	SNP	G	G	A	rs142215324		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21904139G>A	uc003xag.2	+	4	364	c.352G>A	c.(352-354)GGG>AGG	p.G118R	FGF17_uc003xah.2_Missense_Mutation_p.G107R|FGF17_uc003xai.2_Missense_Mutation_p.G141R	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	118					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAAGCTCATCGGGAAGGTGAG	0.552												
HR	55806	broad.mit.edu	37	8	21978590	21978590	+	Silent	SNP	C	C	T	rs151306827	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21978590C>T	uc003xas.2	-	10	3020	c.2355G>A	c.(2353-2355)CCG>CCA	p.P785P	HR_uc003xat.2_Silent_p.P785P	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGGCAGGGCCGGAGTGACGG	0.662												
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:22054897G>A	uc003xbg.2	+	15	2315	c.2071G>A	c.(2071-2073)GTG>ATG	p.V691M	BMP1_uc003xba.2_Missense_Mutation_p.V691M|BMP1_uc003xbb.2_Missense_Mutation_p.V691M|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.V440M|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.V440M|BMP1_uc011kzc.1_Missense_Mutation_p.V440M|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	691	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567												
ADAM7	8756	broad.mit.edu	37	8	24324356	24324356	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24324356T>C	uc003xeb.2	+	6	547	c.434T>C	c.(433-435)GTG>GCG	p.V145A	ADAM7_uc003xea.1_Missense_Mutation_p.V145A	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	145	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTGAACCAGTGAAATACTCA	0.368												
ADAM7	8756	broad.mit.edu	37	8	24350742	24350742	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24350742G>T	uc003xeb.2	+	16	1955	c.1842G>T	c.(1840-1842)ATG>ATT	p.M614I	ADAM7_uc003xec.2_Missense_Mutation_p.M386I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	614	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAGAGGGAATGGTAAGACAAA	0.363												
ADRA1A	148	broad.mit.edu	37	8	26722095	26722095	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:26722095G>A	uc003xfh.1	-	1	828	c.392C>T	c.(391-393)CCG>CTG	p.P131L	ADRA1A_uc003xfc.1_Missense_Mutation_p.P131L|ADRA1A_uc010lul.1_Missense_Mutation_p.P131L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.P131L|ADRA1A_uc010lum.1_Missense_Mutation_p.P131L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.P131L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	131	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GTAGCGCAGCGGGTAGCTCAC	0.612												
SCARA3	51435	broad.mit.edu	37	8	27507229	27507229	+	Silent	SNP	C	C	T	rs142909298		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27507229C>T	uc003xga.1	+	2	159	c.18C>T	c.(16-18)GCC>GCT	p.A6A	SCARA3_uc003xgb.1_Silent_p.A6A	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	6	Cytoplasmic (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TGAGGTCGGCCGGCGGCGATG	0.587												
SCARA3	51435	broad.mit.edu	37	8	27516732	27516732	+	Missense_Mutation	SNP	C	C	T	rs143642283		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27516732C>T	uc003xga.1	+	5	1186	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C	SCARA3_uc003xgb.1_Missense_Mutation_p.R349C	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	349	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TCTGGAAGGACGCATGGCTTC	0.522												
ESCO2	157570	broad.mit.edu	37	8	27657181	27657181	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:27657181T>C	uc003xgg.2	+	10	1704	c.1621T>C	c.(1621-1623)TTC>CTC	p.F541L	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	541					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATCTGGGTTTTCAGACTGAA	0.438									SC_Phocomelia_syndrome			
RBPMS	11030	broad.mit.edu	37	8	30332344	30332344	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30332344A>G	uc003xic.1	+	2	781	c.116A>G	c.(115-117)GAG>GGG	p.E39G	RBPMS_uc003xid.1_Missense_Mutation_p.E39G|RBPMS_uc003xie.1_Missense_Mutation_p.E39G|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Missense_Mutation_p.E39G|RBPMS_uc003xib.2_Missense_Mutation_p.E39G|RBPMS_uc010lvh.1_5'UTR	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	39	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AAACCTCGGGAGCTCTATCTG	0.403												
GSR	2936	broad.mit.edu	37	8	30560644	30560644	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30560644A>G	uc003xih.1	-	5	697	c.606T>C	c.(604-606)GGT>GGC	p.G202G		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	202					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGGAGGGCATACCACCTGTGG	0.527												
PPP2CB	5516	broad.mit.edu	37	8	30657228	30657228	+	Missense_Mutation	SNP	C	C	T	rs139426941		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30657228C>T	uc003xik.2	-	3	381	c.146G>A	c.(145-147)CGT>CAT	p.R49H		NM_004156	NP_004147	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta	49					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AACAGGGCAACGAACCTCTTG	0.333												
TEX15	56154	broad.mit.edu	37	8	30694355	30694355	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30694355T>C	uc003xil.2	-	3	8296	c.8296A>G	c.(8296-8298)AAT>GAT	p.N2766D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2766										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACAAATCGATTAGGAAGGTAA	0.368												
DUSP26	78986	broad.mit.edu	37	8	33454979	33454979	+	Missense_Mutation	SNP	G	G	A	rs114901124	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:33454979G>A	uc003xjp.2	-	2	388	c.55C>T	c.(55-57)CGG>TGG	p.R19W	DUSP26_uc003xjq.2_Missense_Mutation_p.R19W	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	19						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GAGCTACTCCGGGAGAAGCGG	0.557												
UNC5D	137970	broad.mit.edu	37	8	35406931	35406931	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:35406931C>T	uc003xjr.1	+	2	553	c.225C>T	c.(223-225)TGC>TGT	p.C75C	UNC5D_uc003xjs.1_Silent_p.C70C	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	75	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACTCAGGTGCAAAGCGAGGC	0.507												
KCNU1	157855	broad.mit.edu	37	8	36644862	36644862	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:36644862A>G	uc010lvw.2	+	2	321	c.234A>G	c.(232-234)GTA>GTG	p.V78V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	78	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCCATGTAAGAAGCCTCC	0.423												
ZNF703	80139	broad.mit.edu	37	8	37556077	37556077	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37556077T>C	uc003xjy.1	+	2	1855	c.1658T>C	c.(1657-1659)TTA>TCA	p.L553S		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	553					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			AAGAGCCACTTATCCACAGCG	0.527												
GPR124	25960	broad.mit.edu	37	8	37696520	37696520	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37696520T>C	uc003xkj.2	+	15	2669	c.2306T>C	c.(2305-2307)CTG>CCG	p.L769P	GPR124_uc010lvy.2_Missense_Mutation_p.L552P	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	769	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGGCAGGGCTGCACCCCGTG	0.662												
RAB11FIP1	80223	broad.mit.edu	37	8	37729770	37729770	+	Silent	SNP	G	G	A	rs142300397		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37729770G>A	uc003xkm.1	-	4	2594	c.2550C>T	c.(2548-2550)GAC>GAT	p.D850D	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Silent_p.D179D|RAB11FIP1_uc003xko.1_Silent_p.D179D|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	850					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGCTCTCCGTCAGACGCGT	0.642												
RAB11FIP1	80223	broad.mit.edu	37	8	37734740	37734740	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37734740G>C	uc003xkm.1	-	2	745	c.701C>G	c.(700-702)TCC>TGC	p.S234C	RAB11FIP1_uc010lvz.1_Missense_Mutation_p.S82C|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.S234C|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S82C	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	234					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACAGACATGGACTGGGAAAG	0.458												
GOT1L1	137362	broad.mit.edu	37	8	37791963	37791963	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37791963T>A	uc011lbj.1	-	9	1214	c.1114A>T	c.(1114-1116)ATC>TTC	p.I372F		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	372					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TTCTTGGGGATATAGATGTGC	0.473												
WHSC1L1	54904	broad.mit.edu	37	8	38146075	38146075	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:38146075T>C	uc003xli.2	-	19	3949	c.3431A>G	c.(3430-3432)TAC>TGC	p.Y1144C	WHSC1L1_uc011lbm.1_Missense_Mutation_p.Y1144C|WHSC1L1_uc010lwe.2_Missense_Mutation_p.Y1095C	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1144	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	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)			TGCATCAGGGTATAGTCTCTT	0.532			T	NUP98	AML							
ANK1	286	broad.mit.edu	37	8	41542098	41542098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:41542098C>T	uc003xok.2	-	37	4585	c.4501G>A	c.(4501-4503)GAC>AAC	p.D1501N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D817N|ANK1_uc003xoi.2_Missense_Mutation_p.D1501N|ANK1_uc003xoj.2_Missense_Mutation_p.D1501N|ANK1_uc003xol.2_Missense_Mutation_p.D1501N|ANK1_uc003xom.2_Missense_Mutation_p.D1542N	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1501	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TAGTCGCGGTCGGTGTGCCGC	0.617												
MYST3	7994	broad.mit.edu	37	8	41798556	41798556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:41798556C>T	uc010lxb.2	-	16	3387	c.2843G>A	c.(2842-2844)CGA>CAA	p.R948Q	MYST3_uc010lxc.2_Missense_Mutation_p.R948Q|MYST3_uc003xon.3_Missense_Mutation_p.R948Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	948					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)			GAGCTGTCCTCGCCAGGGCTC	0.572												
HOOK3	84376	broad.mit.edu	37	8	42819609	42819609	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:42819609A>G	uc003xpr.2	+	9	1013	c.771A>G	c.(769-771)GAA>GAG	p.E257E	HOOK3_uc010lxq.1_Silent_p.E257E	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	257	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCAAGAAGAAACATTCAGGT	0.303			T	RET	papillary thyroid							
HGSNAT	138050	broad.mit.edu	37	8	43048914	43048914	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:43048914C>A	uc003xpx.3	+	14	1440	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	492	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTACCACACCGAGGTGGCCT	0.453												
MCM4	4173	broad.mit.edu	37	8	48888286	48888286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:48888286A>G	uc003xqk.1	+	16	2472	c.2377A>G	c.(2377-2379)ACC>GCC	p.T793A	MCM4_uc003xql.1_Missense_Mutation_p.T793A|MCM4_uc011ldi.1_Missense_Mutation_p.T780A	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	793					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GATGAGTGCCACCTCTCGTAA	0.318												
PXDNL	137902	broad.mit.edu	37	8	52321166	52321166	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:52321166G>A	uc003xqu.3	-	17	3119	c.3018C>T	c.(3016-3018)GGC>GGT	p.G1006G	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1006					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCAGCTCCGCGCCCACGATCT	0.622												
ST18	9705	broad.mit.edu	37	8	53073967	53073967	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:53073967A>T	uc003xqz.2	-	9	1718	c.1562T>A	c.(1561-1563)GTG>GAG	p.V521E	ST18_uc011ldq.1_Missense_Mutation_p.V168E|ST18_uc011ldr.1_Missense_Mutation_p.V486E|ST18_uc011lds.1_Missense_Mutation_p.V426E|ST18_uc003xra.2_Missense_Mutation_p.V521E|ST18_uc003xrb.2_Missense_Mutation_p.V521E	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	521						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCGTCCTTGCACTGTTTGTAT	0.428												
XKR4	114786	broad.mit.edu	37	8	56015361	56015361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:56015361C>T	uc003xsf.2	+	1	345	c.313C>T	c.(313-315)CGG>TGG	p.R105W		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	105						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGGGAGCAGCGGCGCTACTC	0.478												
XKR4	114786	broad.mit.edu	37	8	56015787	56015787	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:56015787T>C	uc003xsf.2	+	1	771	c.739T>C	c.(739-741)TCC>CCC	p.S247P		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	247						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGGTCTGCGTCCTGCTCCTT	0.602												
PLAG1	5324	broad.mit.edu	37	8	57078885	57078885	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:57078885A>G	uc003xsq.3	-	3	1871	c.1420T>C	c.(1420-1422)TCT>CCT	p.S474P	PLAG1_uc003xsr.3_Missense_Mutation_p.S474P|PLAG1_uc010lyi.2_Missense_Mutation_p.S474P|PLAG1_uc010lyj.2_Missense_Mutation_p.S392P	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	474	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAGTGCAGAGACCCAAGCCCT	0.493			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
PLAG1	5324	broad.mit.edu	37	8	57079206	57079206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:57079206C>T	uc003xsq.3	-	3	1550	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	PLAG1_uc003xsr.3_Missense_Mutation_p.V367M|PLAG1_uc010lyi.2_Missense_Mutation_p.V367M|PLAG1_uc010lyj.2_Missense_Mutation_p.V285M	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	367	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAAGAGGGCACGCCACCTTGT	0.458			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
CYP7A1	1581	broad.mit.edu	37	8	59407183	59407183	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:59407183T>C	uc003xtm.3	-	4	984	c.921A>G	c.(919-921)GCA>GCG	p.A307A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	307					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTGCTTTCATTGCTTCTGGGT	0.373									Neonatal_Giant_Cell_Hepatitis			
NSMAF	8439	broad.mit.edu	37	8	59522202	59522202	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:59522202C>T	uc003xtt.2	-	10	862	c.648G>A	c.(646-648)ACG>ACA	p.T216T	NSMAF_uc011lee.1_Silent_p.T247T|NSMAF_uc003xtu.2_Silent_p.T216T	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	216	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				GGTTTGTGTCCGTGATGCACA	0.502												
CHD7	55636	broad.mit.edu	37	8	61765496	61765496	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:61765496A>G	uc003xue.2	+	31	6689	c.6212A>G	c.(6211-6213)CAC>CGC	p.H2071R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2071					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)			GTTCTCCATCACCCCCAGCTG	0.582												
MTFR1	9650	broad.mit.edu	37	8	66619270	66619270	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:66619270T>C	uc003xvm.2	+	6	755	c.543T>C	c.(541-543)GGT>GGC	p.G181G	MTFR1_uc011lep.1_Silent_p.G181G|MTFR1_uc003xvn.2_Silent_p.G148G|MTFR1_uc003xvo.1_Silent_p.G171G	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	181						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)			CCACATTTGGTACCATACCAC	0.443												
CRH	1392	broad.mit.edu	37	8	67089245	67089245	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67089245C>T	uc003xvy.1	-	2	653	c.468G>A	c.(466-468)GAG>GAA	p.E156E		NM_000756	NP_000747	P06850	CRF_HUMAN	corticotropin releasing hormone precursor	156					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	AGATGGGAGGCTCCTCGGACC	0.662											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYBL1	4603	broad.mit.edu	37	8	67488460	67488460	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67488460T>C	uc003xwj.2	-	10	1659	c.1252A>G	c.(1252-1254)AAA>GAA	p.K418E	MYBL1_uc003xwl.2_Missense_Mutation_p.K418E|MYBL1_uc003xwk.2_Missense_Mutation_p.K417E	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	418	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GTGTTTTTTTTCCCTTCAAGT	0.413												
VCPIP1	80124	broad.mit.edu	37	8	67578127	67578127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67578127A>G	uc003xwn.2	-	1	1326	c.1067T>C	c.(1066-1068)ATC>ACC	p.I356T	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	356	OTU.				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)			TACCAAGGGGATATAATGGTT	0.463												
CSPP1	79848	broad.mit.edu	37	8	68044279	68044279	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68044279G>A	uc003xxi.2	+	16	1912	c.1881G>A	c.(1879-1881)CAG>CAA	p.Q627Q	CSPP1_uc003xxg.1_Silent_p.Q619Q|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.Q592Q|CSPP1_uc003xxk.2_Silent_p.Q298Q	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	627	Potential.					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)			CTTCCAAACAGTCACTTCAGT	0.363												
ARFGEF1	10565	broad.mit.edu	37	8	68200234	68200234	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68200234A>G	uc003xxo.1	-	7	1373	c.983T>C	c.(982-984)ATT>ACT	p.I328T		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	328					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTCTGTACAATGTCTTGTGG	0.313												
CPA6	57094	broad.mit.edu	37	8	68334846	68334846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:68334846C>T	uc003xxq.3	-	11	1463	c.1207G>A	c.(1207-1209)GGA>AGA	p.G403R	CPA6_uc003xxr.3_Missense_Mutation_p.G159R	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	403					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CCAAAATATCCAGTGTCACGT	0.383												
PREX2	80243	broad.mit.edu	37	8	69021847	69021847	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:69021847T>C	uc003xxv.1	+	25	3162	c.3135T>C	c.(3133-3135)TGT>TGC	p.C1045C	PREX2_uc011lez.1_Silent_p.C980C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1045					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						TGTGTGTTTGTCAAATAGATG	0.353												
SLCO5A1	81796	broad.mit.edu	37	8	70585127	70585127	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70585127C>T	uc003xyl.2	-	10	3231	c.2524G>A	c.(2524-2526)GCT>ACT	p.A842T	SLCO5A1_uc010lzb.2_Missense_Mutation_p.A787T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	842						integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCAAGGCAGCGGGGCTCTCT	0.532												
SLCO5A1	81796	broad.mit.edu	37	8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	rs141622109		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70617453C>T	uc003xyl.2	-	6	2142	c.1435G>A	c.(1435-1437)GTC>ATC	p.V479I	SLCO5A1_uc010lzb.2_Missense_Mutation_p.V424I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.V479I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.V424I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	479	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCACTGGGGACGATAATAACC	0.413												
NCOA2	10499	broad.mit.edu	37	8	71068739	71068739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:71068739C>T	uc003xyn.1	-	11	2023	c.1861G>A	c.(1861-1863)GTG>ATG	p.V621M		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	621					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCACTGCTCACGGCCGGGGGC	0.562			T	RUNXBP2	AML							
LACTB2	51110	broad.mit.edu	37	8	71556421	71556421	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:71556421T>C	uc011lfd.1	-	4	563	c.471A>G	c.(469-471)GAA>GAG	p.E157E	LACTB2_uc003xyp.2_Silent_p.E157E	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	157							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGATAGCATTTTCCTCTTCTA	0.358												
EYA1	2138	broad.mit.edu	37	8	72127938	72127938	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72127938T>G	uc003xys.3	-	14	1673	c.1386A>C	c.(1384-1386)GAA>GAC	p.E462D	EYA1_uc003xyr.3_Missense_Mutation_p.E427D|EYA1_uc003xyt.3_Missense_Mutation_p.E429D|EYA1_uc010lzf.2_Missense_Mutation_p.E389D|EYA1_uc003xyu.2_Missense_Mutation_p.E462D|EYA1_uc011lfe.1_Missense_Mutation_p.E456D|EYA1_uc003xyv.2_Missense_Mutation_p.E340D	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	462					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCAGCCAGGCTTCCCTCTTAG	0.498												
MSC	9242	broad.mit.edu	37	8	72756065	72756065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72756065G>A	uc003xyx.1	-	1	667	c.349C>T	c.(349-351)CGT>TGT	p.R117C	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	117	Basic motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ATCCGGGCACGCTCACGGGCG	0.687											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRPA1	8989	broad.mit.edu	37	8	72950278	72950278	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72950278A>G	uc003xza.2	-	20	2500	c.2325T>C	c.(2323-2325)ATT>ATC	p.I775I	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	775	Helical; Name=2; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	AAAACACTAAAATCATACAAG	0.269												
TRPA1	8989	broad.mit.edu	37	8	72973946	72973946	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72973946C>T	uc003xza.2	-	7	1033	c.858G>A	c.(856-858)GAG>GAA	p.E286E		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	286	Cytoplasmic (Potential).|ANK 7.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTTTAACAATCTCAGTGGCTC	0.423												
TMEM70	54968	broad.mit.edu	37	8	74888567	74888567	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:74888567C>T	uc003yab.2	+	1	138	c.51C>T	c.(49-51)TGC>TGT	p.C17C	TMEM70_uc003yac.2_Silent_p.C17C	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	17					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TGCCTCTCTGCGGAAGGAGGA	0.721												
JPH1	56704	broad.mit.edu	37	8	75227698	75227698	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:75227698G>A	uc003yae.2	-	2	577	c.537C>T	c.(535-537)GCC>GCT	p.A179A	JPH1_uc003yaf.2_Silent_p.A179A|JPH1_uc003yag.1_Silent_p.A43A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	179	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)			CGGCGGCTGCGGCGTCGTGGA	0.706												
GDAP1	54332	broad.mit.edu	37	8	75272475	75272475	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:75272475T>C	uc003yah.2	+	3	493	c.414T>C	c.(412-414)CAT>CAC	p.H138H	GDAP1_uc011lfj.1_Silent_p.H23H|GDAP1_uc003yai.2_Silent_p.H70H	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	138						cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTATACACATGGCTGCATTT	0.433												
ZFHX4	79776	broad.mit.edu	37	8	77616900	77616900	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:77616900A>G	uc003yav.2	+	2	964	c.577A>G	c.(577-579)AAC>GAC	p.N193D	ZFHX4_uc003yat.1_Missense_Mutation_p.N193D|ZFHX4_uc003yau.1_Missense_Mutation_p.N193D|ZFHX4_uc003yaw.1_Missense_Mutation_p.N193D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAGATCATCAACACTTTTCA	0.488										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77690625	77690625	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:77690625A>T	uc003yav.2	+	4	3584	c.3197A>T	c.(3196-3198)GAC>GTC	p.D1066V	ZFHX4_uc003yau.1_Missense_Mutation_p.D1092V|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1066V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1066						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGAGGAGGACAACCTCAGT	0.527										HNSCC(33;0.089)		
DCAF4L2	138009	broad.mit.edu	37	8	88885724	88885724	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:88885724A>G	uc003ydz.2	-	1	573	c.476T>C	c.(475-477)CTC>CCC	p.L159P		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	159										ovary(1)	1						CGACGCTGGGAGCAGCACGGC	0.562												
NBN	4683	broad.mit.edu	37	8	90976668	90976668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:90976668A>G	uc003yej.1	-	8	1074	c.964T>C	c.(964-966)TAC>CAC	p.Y322H	NBN_uc003yei.1_Missense_Mutation_p.Y240H|NBN_uc011lgb.1_Missense_Mutation_p.Y322H	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	322					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGATCACAGTAATTCTTTGTA	0.328								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
DECR1	1666	broad.mit.edu	37	8	91054988	91054988	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:91054988T>C	uc003yek.1	+	7	839	c.698T>C	c.(697-699)ATG>ACG	p.M233T	DECR1_uc011lgc.1_Missense_Mutation_p.M224T|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	233					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAATATGGAATGCGATTCAAT	0.308												
SLC26A7	115111	broad.mit.edu	37	8	92307862	92307862	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:92307862C>T	uc003yex.2	+	5	686	c.408C>T	c.(406-408)GGC>GGT	p.G136G	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.G136G|SLC26A7_uc003yfa.2_Silent_p.G136G	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	136	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCGTGCTGGGCTTATCCGACT	0.478												
RBM12B	389677	broad.mit.edu	37	8	94748049	94748049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:94748049G>A	uc003yfz.2	-	3	783	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	197	RRM 1.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTTACTATGGCATCACCATT	0.353												
CDH17	1015	broad.mit.edu	37	8	95178128	95178128	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95178128A>G	uc003ygh.2	-	10	1268	c.1143T>C	c.(1141-1143)ATT>ATC	p.I381I	CDH17_uc011lgo.1_Silent_p.I167I|CDH17_uc011lgp.1_Silent_p.I381I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	381	Extracellular (Potential).|Cadherin 4.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTGCTCCACAATCCTGTAGT	0.418												
KIAA1429	25962	broad.mit.edu	37	8	95556148	95556148	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95556148A>G	uc003ygo.1	-	2	99	c.86T>C	c.(85-87)GTT>GCT	p.V29A	KIAA1429_uc003ygp.2_Missense_Mutation_p.V29A	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	29					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGGAAAACGAACCACATCTAT	0.408												
DPY19L4	286148	broad.mit.edu	37	8	95782684	95782684	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95782684A>G	uc003ygx.2	+	13	1463	c.1339A>G	c.(1339-1341)AAG>GAG	p.K447E		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	447						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					TTGTAGTGGTAAGTCCCTGAA	0.294												
INTS8	55656	broad.mit.edu	37	8	95862296	95862296	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95862296T>C	uc003yhb.2	+	12	1610	c.1484T>C	c.(1483-1485)GTA>GCA	p.V495A	INTS8_uc003yha.1_Missense_Mutation_p.V495A|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.V322A	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	495					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					ATTAAACCTGTAACTTCATTT	0.373												
INTS8	55656	broad.mit.edu	37	8	95869047	95869047	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95869047T>C	uc003yhb.2	+	15	1921	c.1795T>C	c.(1795-1797)TTG>CTG	p.L599L	INTS8_uc003yha.1_Silent_p.L599L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.L426L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	599	TPR 3.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TTGTTTGGAGTTGGTAACAGA	0.458												
INTS8	55656	broad.mit.edu	37	8	95892454	95892454	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:95892454T>C	uc003yhb.2	+	27	3106	c.2980T>C	c.(2980-2982)TAC>CAC	p.Y994H	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.Y804H	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	994					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					GGCAAAACTTTACTTTTAAGC	0.313												
MATN2	4147	broad.mit.edu	37	8	98900443	98900443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:98900443C>T	uc003yic.2	+	2	346	c.115C>T	c.(115-117)CGG>TGG	p.R39W	MATN2_uc003yib.1_Missense_Mutation_p.R39W|MATN2_uc010mbh.1_Missense_Mutation_p.R39W|MATN2_uc003yid.2_Missense_Mutation_p.R39W|MATN2_uc003yie.1_Missense_Mutation_p.R39W	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	39						proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAGACACGCTCGGACCCACCC	0.662												
MATN2	4147	broad.mit.edu	37	8	99019731	99019731	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:99019731A>G	uc003yic.2	+	10	1706	c.1475A>G	c.(1474-1476)GAC>GGC	p.D492G	MATN2_uc010mbh.1_Missense_Mutation_p.D451G|MATN2_uc003yid.2_Missense_Mutation_p.D492G|MATN2_uc003yie.1_Missense_Mutation_p.D492G|MATN2_uc010mbi.1_Missense_Mutation_p.D325G|MATN2_uc010mbj.1_5'UTR	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	492	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGCTGAGTGACCATGGTTGT	0.532												
HRSP12	10247	broad.mit.edu	37	8	99118537	99118537	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:99118537A>G	uc003yii.1	-	3	283	c.189T>C	c.(187-189)GGT>GGC	p.G63G		NM_005836	NP_005827	P52758	UK114_HUMAN	heat-responsive protein 12	63					regulation of translational termination	nucleus	endonuclease activity			ovary(1)	1	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TCAGAATTTCACCCATGTTTT	0.313												
GRHL2	79977	broad.mit.edu	37	8	102570748	102570748	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:102570748A>T	uc010mbu.2	+	4	716	c.386A>T	c.(385-387)GAT>GTT	p.D129V	GRHL2_uc011lhi.1_Missense_Mutation_p.D129V	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	129						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTAAATCAAGATCACCTGGAG	0.507												
NCALD	83988	broad.mit.edu	37	8	102731641	102731641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:102731641C>T	uc003yke.2	-	2	586	c.217G>A	c.(217-219)GAT>AAT	p.D73N	NCALD_uc003ykf.2_Missense_Mutation_p.D73N|NCALD_uc003ykg.2_Missense_Mutation_p.D73N|NCALD_uc003ykh.2_Missense_Mutation_p.D73N|NCALD_uc003yki.2_Missense_Mutation_p.D73N|NCALD_uc003ykj.2_Missense_Mutation_p.D73N|NCALD_uc003ykk.2_Missense_Mutation_p.D73N|NCALD_uc003ykl.2_Missense_Mutation_p.D73N	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	73	EF-hand 2.|1 (Potential).				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CCATTTGCATCGAAGGTGCGG	0.443												
UBR5	51366	broad.mit.edu	37	8	103287984	103287984	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103287984T>C	uc003ykr.1	-	46	6615	c.6582A>G	c.(6580-6582)GAA>GAG	p.E2194E	UBR5_uc003yks.1_Silent_p.E2194E	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2194					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)			TGCCGAACAGTTCTAAAGAAA	0.443												
UBR5	51366	broad.mit.edu	37	8	103323552	103323552	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103323552G>A	uc003ykr.1	-	20	2624	c.2591C>T	c.(2590-2592)GCT>GTT	p.A864V	UBR5_uc003yks.1_Missense_Mutation_p.A864V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	864					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)			GATAACAGCAGCTTTCTTTTT	0.373												
UBR5	51366	broad.mit.edu	37	8	103324440	103324440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103324440C>T	uc003ykr.1	-	18	2218	c.2185G>A	c.(2185-2187)GAC>AAC	p.D729N	UBR5_uc003yks.1_Missense_Mutation_p.D729N	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	729					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)			TGGAAACAGTCGGGAACCTTC	0.368												
KLF10	7071	broad.mit.edu	37	8	103664435	103664435	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:103664435T>A	uc011lhk.1	-	2	381	c.227A>T	c.(226-228)AAT>ATT	p.N76I	KLF10_uc011lhj.1_Missense_Mutation_p.N65I	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	76					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGAAGCAGATTCTCTTCCTC	0.323											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FZD6	8323	broad.mit.edu	37	8	104337709	104337709	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:104337709A>G	uc003ylh.2	+	4	1659	c.1375A>G	c.(1375-1377)ATC>GTC	p.I459V	FZD6_uc003yli.2_Missense_Mutation_p.I459V|FZD6_uc003ylj.2_Missense_Mutation_p.I459V|FZD6_uc011lhn.1_Missense_Mutation_p.I425V|FZD6_uc011lho.1_Missense_Mutation_p.I154V|FZD6_uc011lhp.1_Missense_Mutation_p.I404V	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	459	Extracellular (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|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			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCAGTACCATATCCCATGTCC	0.378												
LRP12	29967	broad.mit.edu	37	8	105509440	105509440	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:105509440T>G	uc003yma.2	-	5	1435	c.1340A>C	c.(1339-1341)AAC>ACC	p.N447T	LRP12_uc003ymb.2_Missense_Mutation_p.N428T|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	447	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAAAGCAGTTTTTTTCATC	0.418												
OXR1	55074	broad.mit.edu	37	8	107695466	107695466	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107695466T>C	uc011lht.1	+	4	445	c.346T>C	c.(346-348)TTT>CTT	p.F116L	OXR1_uc003ymf.2_Missense_Mutation_p.F115L|OXR1_uc011lhu.1_Missense_Mutation_p.F108L|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.F48L|OXR1_uc003ymi.1_Missense_Mutation_p.F27L	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	116	LysM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGCCCTGAAGTTTGATACAAC	0.289												
OXR1	55074	broad.mit.edu	37	8	107719150	107719150	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107719150T>A	uc011lht.1	+	8	1503	c.1404T>A	c.(1402-1404)AAT>AAA	p.N468K	OXR1_uc003ymf.2_Missense_Mutation_p.N467K|OXR1_uc011lhu.1_Missense_Mutation_p.N460K|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.N165K|OXR1_uc003ymg.1_Missense_Mutation_p.N400K|OXR1_uc003ymi.1_Missense_Mutation_p.N379K	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	468					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGAAAATATGCCTTGTG	0.383												
ABRA	137735	broad.mit.edu	37	8	107773721	107773721	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:107773721T>C	uc003ymm.3	-	2	744	c.690A>G	c.(688-690)AAA>AAG	p.K230K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	230					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGCAGTTGAGTTTCTCTGTAA	0.438												
RSPO2	340419	broad.mit.edu	37	8	109001323	109001323	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:109001323A>G	uc003yms.2	-	3	902	c.244T>C	c.(244-246)TAC>CAC	p.Y82H	RSPO2_uc003ymq.2_Missense_Mutation_p.Y15H|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	82					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGTCCATAGTACCCGGATGGG	0.493												
ENY2	56943	broad.mit.edu	37	8	110348433	110348433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:110348433G>A	uc003ynd.2	+	2	145	c.83G>A	c.(82-84)CGC>CAC	p.R28H	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.R23H	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	28					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			GAAAGAGAACGGTAAGTAATA	0.348												
PKHD1L1	93035	broad.mit.edu	37	8	110394751	110394751	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:110394751A>G	uc003yne.2	+	4	472	c.368A>G	c.(367-369)GAA>GGA	p.E123G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	123	Extracellular (Potential).|IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGTTACGGAAAATAACACC	0.398										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113237026	113237026	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113237026A>G	uc003ynu.2	-	71	11257	c.11098T>C	c.(11098-11100)TTG>CTG	p.L3700L	CSMD3_uc003yns.2_Silent_p.L2902L|CSMD3_uc003ynt.2_Silent_p.L3660L|CSMD3_uc011lhx.1_Silent_p.L3531L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3700	Cytoplasmic (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						ACCGTGTTCAAGTTGGGATCA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113237134	113237134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113237134C>A	uc003ynu.2	-	71	11149	c.10990G>T	c.(10990-10992)GGA>TGA	p.G3664*	CSMD3_uc003yns.2_Nonsense_Mutation_p.G2866*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3624*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3495*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3664	Cytoplasmic (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						ACTGAACATCCTGTATACTGT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113259321	113259321	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:113259321G>T	uc003ynu.2	-	64	10309	c.10150C>A	c.(10150-10152)CTT>ATT	p.L3384I	CSMD3_uc003yns.2_Missense_Mutation_p.L2586I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3344I|CSMD3_uc011lhx.1_Missense_Mutation_p.L3215I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3384	Extracellular (Potential).|Sushi 27.					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						CCTTGGAGAAGGTGTCCTTTT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	114111072	114111072	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:114111072T>C	uc003ynu.2	-	5	989	c.830A>G	c.(829-831)GAC>GGC	p.D277G	CSMD3_uc003ynt.2_Missense_Mutation_p.D237G|CSMD3_uc011lhx.1_Missense_Mutation_p.D277G|CSMD3_uc010mcx.1_Missense_Mutation_p.D277G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	277	Extracellular (Potential).|CUB 2.					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						TGAAATTGTGTCCCCAGGCTC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
MED30	90390	broad.mit.edu	37	8	118541046	118541046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:118541046G>A	uc003yoj.2	+	2	485	c.334G>A	c.(334-336)GAG>AAG	p.E112K	MED30_uc011lib.1_Missense_Mutation_p.E112K	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	112					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CATTCCAGTCGAGGTAATTTT	0.388												
ENPP2	5168	broad.mit.edu	37	8	120596200	120596200	+	Splice_Site	SNP	A	A	G	rs140502806		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120596200A>G	uc003yot.1	-	16	1541	c.1455_splice	c.e16+1	p.Q485_splice	ENPP2_uc011lic.1_Intron|ENPP2_uc003yor.1_Splice_Site_p.Q124_splice|ENPP2_uc003yos.1_Splice_Site_p.Q537_splice|ENPP2_uc010mdd.1_Splice_Site_p.Q485_splice	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein						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)			CTGCCATCATACCTGCATGCT	0.373												
TAF2	6873	broad.mit.edu	37	8	120793304	120793304	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120793304A>G	uc003you.2	-	17	2512	c.2242T>C	c.(2242-2244)TTT>CTT	p.F748L		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	748					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTGTAGAAAATAGCTTTGA	0.318												
DEPDC6	64798	broad.mit.edu	37	8	120940664	120940664	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120940664T>C	uc003yow.3	+	2	334	c.147T>C	c.(145-147)GTT>GTC	p.V49V	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	49	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGAAAAGGTTATTAAAGATA	0.383												
DEPDC6	64798	broad.mit.edu	37	8	120940800	120940800	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120940800C>A	uc003yow.3	+	2	470	c.283C>A	c.(283-285)CGG>AGG	p.R95R	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	95	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTAGCAGACCGGGGCATTAT	0.433												
COL14A1	7373	broad.mit.edu	37	8	121256232	121256232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:121256232G>A	uc003yox.2	+	20	2729	c.2464G>A	c.(2464-2466)GCT>ACT	p.A822T	COL14A1_uc003yoy.2_Missense_Mutation_p.A500T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	822	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCGTCTCCGCTCCTGGAAA	0.463												
HAS2	3037	broad.mit.edu	37	8	122626645	122626645	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:122626645T>A	uc003yph.2	-	4	1901	c.1363A>T	c.(1363-1365)ATT>TTT	p.I455F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	455	Extracellular (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTGTTGCAATTGCAAACATC	0.408												
ZHX2	22882	broad.mit.edu	37	8	123964414	123964414	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:123964414A>G	uc003ypk.1	+	3	1231	c.664A>G	c.(664-666)ACA>GCA	p.T222A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	222	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGTGACAGACACAGCTGAGAT	0.577												
FAM83A	84985	broad.mit.edu	37	8	124195493	124195493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:124195493T>C	uc003ypv.2	+	2	2411	c.397T>C	c.(397-399)TCC>CCC	p.S133P	FAM83A_uc003ypw.2_Missense_Mutation_p.S133P|FAM83A_uc003ypy.2_Missense_Mutation_p.S133P|FAM83A_uc003ypx.2_Missense_Mutation_p.S133P|FAM83A_uc003ypz.2_Missense_Mutation_p.S133P	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	133										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GAAGGAAAAATCCAGCGCCAC	0.607												
FBXO32	114907	broad.mit.edu	37	8	124516885	124516885	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:124516885T>C	uc003yqr.2	-	8	1129	c.937A>G	c.(937-939)ACC>GCC	p.T313A	FBXO32_uc003yqq.2_Missense_Mutation_p.T168A|FBXO32_uc010mdk.2_Missense_Mutation_p.T220A	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	313										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTGAAGGGTATCTCCATAC	0.498												
KIAA0196	9897	broad.mit.edu	37	8	126095397	126095397	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:126095397A>G	uc003yrt.2	-	3	619	c.290T>C	c.(289-291)TTA>TCA	p.L97S	KIAA0196_uc011lir.1_Intron	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	97					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGAAATGCTAAATAAAATCT	0.333												
GSDMC	56169	broad.mit.edu	37	8	130763802	130763802	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:130763802T>A	uc003ysr.2	-	10	1811	c.929A>T	c.(928-930)GAA>GTA	p.E310V		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	310						mitochondrion				ovary(2)|skin(1)	3						CCAGAAGGGTTCCTCTATTCT	0.473												
ADCY8	114	broad.mit.edu	37	8	131848574	131848574	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:131848574G>A	uc003ytd.3	-	12	2880	c.2624C>T	c.(2623-2625)ACC>ATC	p.T875I	ADCY8_uc010mds.2_Missense_Mutation_p.T744I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	875	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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGCGTAGACGGTCTCAGTGAG	0.547										HNSCC(32;0.087)		
TG	7038	broad.mit.edu	37	8	133894176	133894176	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:133894176A>G	uc003ytw.2	+	6	748	c.707A>G	c.(706-708)CAC>CGC	p.H236R		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	236	Thyroglobulin type-1 3.				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)		GGGTATTGCCACTGTGCTGAC	0.517												
TG	7038	broad.mit.edu	37	8	133906034	133906034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:133906034G>A	uc003ytw.2	+	11	2902	c.2861G>A	c.(2860-2862)GGG>GAG	p.G954E		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	954	Thyroglobulin type-1 8.				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)		TTCCCTCTGGGGGAGAGTTTC	0.582												
ZFAT	57623	broad.mit.edu	37	8	135614731	135614731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135614731G>A	uc003yup.2	-	6	1406	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	ZFAT_uc003yun.2_Missense_Mutation_p.R399C|ZFAT_uc003yuo.2_Missense_Mutation_p.R399C|ZFAT_uc010meh.2_Missense_Mutation_p.R399C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R399C|ZFAT_uc010mej.2_Missense_Mutation_p.R349C|ZFAT_uc003yur.2_Missense_Mutation_p.R399C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	411	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGAACTTGCGCTCACAGATG	0.582												
ZFAT	57623	broad.mit.edu	37	8	135622749	135622749	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135622749T>C	uc003yup.2	-	4	773	c.598A>G	c.(598-600)ATA>GTA	p.I200V	ZFAT_uc003yun.2_Missense_Mutation_p.I188V|ZFAT_uc003yuo.2_Missense_Mutation_p.I188V|ZFAT_uc010meh.2_Missense_Mutation_p.I188V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.I188V|ZFAT_uc010mej.2_Intron|ZFAT_uc003yur.2_Missense_Mutation_p.I188V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACCACACTTATGATGGGTTTC	0.507												
FAM135B	51059	broad.mit.edu	37	8	139153525	139153525	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:139153525A>G	uc003yuy.2	-	17	3877	c.3706T>C	c.(3706-3708)TAC>CAC	p.Y1236H	FAM135B_uc003yux.2_Missense_Mutation_p.Y1137H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1236										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTTGAGGTAATACCGGAAC	0.522										HNSCC(54;0.14)		
FAM135B	51059	broad.mit.edu	37	8	139153555	139153555	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:139153555A>G	uc003yuy.2	-	17	3847	c.3676T>C	c.(3676-3678)TCG>CCG	p.S1226P	FAM135B_uc003yux.2_Missense_Mutation_p.S1127P|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1226										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGAGGACCGATCGGATGATG	0.547										HNSCC(54;0.14)		
SLC45A4	57210	broad.mit.edu	37	8	142225875	142225875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:142225875A>G	uc003ywd.1	-	6	2079	c.1771T>C	c.(1771-1773)TAC>CAC	p.Y591H	SLC45A4_uc003ywc.1_Missense_Mutation_p.Y591H|SLC45A4_uc010meq.1_Missense_Mutation_p.Y589H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	642					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGTCATGGTACTGGCCCAGC	0.607												
TSNARE1	203062	broad.mit.edu	37	8	143395755	143395755	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:143395755C>T	uc003ywk.2	-	9	1239	c.1121G>A	c.(1120-1122)GGC>GAC	p.G374D	TSNARE1_uc011lju.1_Missense_Mutation_p.G373D|TSNARE1_uc003ywj.2_Missense_Mutation_p.G374D|TSNARE1_uc003ywl.3_Missense_Mutation_p.G154D	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	374					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGTTTACTGCCCCTCTGCGC	0.547												
BAI1	575	broad.mit.edu	37	8	143623648	143623648	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:143623648C>T	uc003ywm.2	+	27	4236	c.4053C>T	c.(4051-4053)GCC>GCT	p.A1351A		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1351	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCCCACGGCCACGGCCACGC	0.657												
ZC3H3	23144	broad.mit.edu	37	8	144557662	144557662	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144557662G>A	uc003yyd.2	-	5	1838	c.1809C>T	c.(1807-1809)TGC>TGT	p.C603C		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	603					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			CCCCTCCGATGCAGCGGTAGC	0.652												
FAM83H	286077	broad.mit.edu	37	8	144808461	144808461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144808461A>G	uc003yzk.2	-	5	3239	c.3170T>C	c.(3169-3171)GTC>GCC	p.V1057A	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1057					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGGGCAGGGACCGCACGGTG	0.657												
FAM83H	286077	broad.mit.edu	37	8	144810850	144810850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144810850C>T	uc003yzk.2	-	5	850	c.781G>A	c.(781-783)GTG>ATG	p.V261M	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	261					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTTGGAACACGTGCGCCAGG	0.662												
EPPK1	83481	broad.mit.edu	37	8	144940491	144940491	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144940491T>C	uc003zaa.1	-	2	14954	c.14941A>G	c.(14941-14943)ACC>GCC	p.T4981A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4981	Plectin 63.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGGGGTCGGTGTAGCCGGTG	0.697												
EPPK1	83481	broad.mit.edu	37	8	144945175	144945175	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144945175G>A	uc003zaa.1	-	1	2260	c.2247C>T	c.(2245-2247)TTC>TTT	p.F749F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	749	Plectin 14.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCTGATCGAAGTAGCCGC	0.642												
PLEC	5339	broad.mit.edu	37	8	144990850	144990850	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144990850T>C	uc003zaf.1	-	32	13720	c.13550A>G	c.(13549-13551)TAC>TGC	p.Y4517C	PLEC_uc003zab.1_Missense_Mutation_p.Y4380C|PLEC_uc003zac.1_Missense_Mutation_p.Y4384C|PLEC_uc003zad.2_Missense_Mutation_p.Y4380C|PLEC_uc003zae.1_Missense_Mutation_p.Y4348C|PLEC_uc003zag.1_Missense_Mutation_p.Y4358C|PLEC_uc003zah.2_Missense_Mutation_p.Y4366C|PLEC_uc003zaj.2_Missense_Mutation_p.Y4407C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4517	Globular 2.|Plectin 31.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGCCTCGTAGTAGAGCCAGCC	0.687												
OPLAH	26873	broad.mit.edu	37	8	145107434	145107434	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145107434G>A	uc003zar.3	-	23	3303	c.3221C>T	c.(3220-3222)GCG>GTG	p.A1074V		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1074							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCACCACCGCCGCCTCGGG	0.746												
MAF1	84232	broad.mit.edu	37	8	145160998	145160998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145160998G>A	uc003zbc.1	+	4	733	c.232G>A	c.(232-234)GGT>AGT	p.G78S	SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	MAF1 protein	78					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus					0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCCAAGGCGGTGAGGAGGA	0.602												
HEATR7A	727957	broad.mit.edu	37	8	145235329	145235329	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145235329G>A	uc003zbk.3	+	7	702	c.465G>A	c.(463-465)GCG>GCA	p.A155A	HEATR7A_uc003zbg.2_Silent_p.A155A|HEATR7A_uc003zbh.3_Silent_p.A155A|HEATR7A_uc003zbi.3_Silent_p.A155A|HEATR7A_uc011lla.1_Silent_p.A155A|HEATR7A_uc010mft.2_Silent_p.A155A	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	155							binding				0						CTCTCACAGCGTTCGGCGTAG	0.687												
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145533580G>A	uc003zbt.3	+	4	656	c.486G>A	c.(484-486)AAG>AAA	p.K162K	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	162	Hydrophobic repeat HR-A/B.			K->R: No effect on sumoylation.		cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647												
FBXL6	26233	broad.mit.edu	37	8	145579642	145579642	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145579642T>C	uc003zcb.2	-	8	1483	c.1458A>G	c.(1456-1458)ACA>ACG	p.T486T	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Silent_p.T213T|FBXL6_uc003zca.2_Silent_p.T480T|FBXL6_uc010mfx.2_Silent_p.T247T|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	486	LRR 11.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	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)			CAGTGCTTGGTGTGACCCGGG	0.637												
GPR172A	79581	broad.mit.edu	37	8	145583653	145583653	+	Silent	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145583653G>T	uc003zcc.1	+	3	658	c.501G>T	c.(499-501)GTG>GTT	p.V167V	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.V167V|GPR172A_uc003zce.1_Silent_p.V167V|GPR172A_uc010mfy.1_Silent_p.V167V|GPR172A_uc003zcf.1_Silent_p.V167V|GPR172A_uc011llc.1_Silent_p.V79V	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	167	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)			TGCAGGGTGTGGGCCGCCTCG	0.657												
CPSF1	29894	broad.mit.edu	37	8	145623173	145623173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145623173T>C	uc003zcj.2	-	20	2144	c.2069A>G	c.(2068-2070)CAC>CGC	p.H690R		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	690					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCTACATGGTGCAGCGGGGG	0.667												
CPSF1	29894	broad.mit.edu	37	8	145623272	145623272	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145623272A>G	uc003zcj.2	-	20	2045	c.1970T>C	c.(1969-1971)GTC>GCC	p.V657A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	657					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACTCATGATGACCACATAGGG	0.652												
SLC39A4	55630	broad.mit.edu	37	8	145638262	145638262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145638262C>T	uc003zcq.2	-	11	1796	c.1696G>A	c.(1696-1698)GCG>ACG	p.A566T	SLC39A4_uc003zcm.1_Missense_Mutation_p.A68T|SLC39A4_uc003zcn.2_Missense_Mutation_p.A68T|SLC39A4_uc003zco.2_Missense_Mutation_p.A290T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A541T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	566	Helical; Name=4; (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane 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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCCGTGAGCGCGGAGGCCAGG	0.677												
RECQL4	9401	broad.mit.edu	37	8	145737617	145737617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:145737617T>C	uc003zdj.2	-	19	3178	c.3146A>G	c.(3145-3147)GAC>GGC	p.D1049G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1049					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)			ACATATCTGGTCCTTCTCCTC	0.642			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			
DOCK8	81704	broad.mit.edu	37	9	332454	332454	+	Silent	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:332454T>G	uc003zgf.2	+	10	1213	c.1101T>G	c.(1099-1101)GTT>GTG	p.V367V	DOCK8_uc011lls.1_Silent_p.V367V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V299V|DOCK8_uc003zgg.2_Silent_p.V299V|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	367	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCTACACGGTTATCAAAGAAA	0.353												
KANK1	23189	broad.mit.edu	37	9	711135	711135	+	Silent	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:711135C>A	uc003zgl.1	+	7	1018	c.369C>A	c.(367-369)CCC>CCA	p.P123P	KANK1_uc003zgm.2_Silent_p.P123P|KANK1_uc003zgn.1_Silent_p.P123P|KANK1_uc003zgo.1_Silent_p.P123P|KANK1_uc003zgp.1_Silent_p.P123P|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	123					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGCCACCTCCCCCTCTGGAGA	0.498												
SMARCA2	6595	broad.mit.edu	37	9	2161854	2161854	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:2161854A>G	uc003zhc.2	+	28	4249	c.4150A>G	c.(4150-4152)ACA>GCA	p.T1384A	SMARCA2_uc003zhd.2_Missense_Mutation_p.T1384A|SMARCA2_uc010mha.2_Missense_Mutation_p.T1317A|SMARCA2_uc011llw.1_Missense_Mutation_p.T88A|SMARCA2_uc003zhf.2_Missense_Mutation_p.T48A|SMARCA2_uc011llx.1_Missense_Mutation_p.T48A|SMARCA2_uc003zhe.2_Missense_Mutation_p.T90A|SMARCA2_uc003zhg.2_Missense_Mutation_p.T48A|SMARCA2_uc010mhb.2_Missense_Mutation_p.T72A	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1384					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCCCAAACTGACAAAGCAGAT	0.453												
RFX3	5991	broad.mit.edu	37	9	3248111	3248111	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:3248111T>C	uc003zhr.2	-	16	2201	c.1889A>G	c.(1888-1890)TAC>TGC	p.Y630C	RFX3_uc010mhd.2_Missense_Mutation_p.Y630C|RFX3_uc003zhs.1_Missense_Mutation_p.Y630C	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	630					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATATTCGTCGTAGAGTAGACG	0.458												
JAK2	3717	broad.mit.edu	37	9	5089710	5089710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:5089710C>T	uc010mhm.2	+	19	2721	c.2608C>T	c.(2608-2610)CCT>TCT	p.P870S	JAK2_uc003ziw.2_Missense_Mutation_p.P870S	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	870	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CCGGTATGACCCTCTACAGGA	0.403		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
GLDC	2731	broad.mit.edu	37	9	6610292	6610292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:6610292A>G	uc003zkc.2	-	4	728	c.535T>C	c.(535-537)TAC>CAC	p.Y179H		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	179					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATGGTCTGGTAGTTGAGTAAA	0.547												
PTPRD	5789	broad.mit.edu	37	9	8517997	8517997	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:8517997T>C	uc003zkk.2	-	20	2105	c.1394A>G	c.(1393-1395)AAC>AGC	p.N465S	PTPRD_uc003zkp.2_Missense_Mutation_p.N465S|PTPRD_uc003zkq.2_Missense_Mutation_p.N465S|PTPRD_uc003zkr.2_Missense_Mutation_p.N459S|PTPRD_uc003zks.2_Missense_Mutation_p.N455S|PTPRD_uc003zkl.2_Missense_Mutation_p.N465S|PTPRD_uc003zkm.2_Missense_Mutation_p.N452S|PTPRD_uc003zkn.2_Missense_Mutation_p.N465S|PTPRD_uc003zko.2_Missense_Mutation_p.N462S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	465	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTCATCCAGTTGTTGACATG	0.408										TSP Lung(15;0.13)		
MPDZ	8777	broad.mit.edu	37	9	13188889	13188889	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:13188889A>G	uc010mia.1	-	16	2315	c.2258T>C	c.(2257-2259)TTT>TCT	p.F753S	MPDZ_uc010mhy.2_Missense_Mutation_p.F753S|MPDZ_uc010mhz.2_Missense_Mutation_p.F753S|MPDZ_uc011lmn.1_Missense_Mutation_p.F753S|MPDZ_uc003zlb.3_Missense_Mutation_p.F753S	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	753	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCGTTTACAAACATGAGTCG	0.473												
CER1	9350	broad.mit.edu	37	9	14722635	14722635	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:14722635C>T	uc003zlj.2	-	1	81	c.36G>A	c.(34-36)CTG>CTA	p.L12L		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	12					BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)		TTCCTAGAGGCAGGAGTACCA	0.532												
C9orf93	203238	broad.mit.edu	37	9	15591502	15591502	+	Missense_Mutation	SNP	G	G	A	rs141114992		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15591502G>A	uc003zmd.2	+	5	806	c.491G>A	c.(490-492)CGA>CAA	p.R164Q	C9orf93_uc010mih.1_Missense_Mutation_p.R164Q|C9orf93_uc003zme.2_Missense_Mutation_p.R71Q|C9orf93_uc011lmu.1_Missense_Mutation_p.R164Q|C9orf93_uc003zmc.2_Missense_Mutation_p.R164Q	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	164	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AATTGCAATCGAGAATATGAT	0.313												
C9orf93	203238	broad.mit.edu	37	9	15623365	15623365	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15623365T>C	uc003zmd.2	+	7	1091	c.776T>C	c.(775-777)CTT>CCT	p.L259P	C9orf93_uc010mih.1_Missense_Mutation_p.L259P|C9orf93_uc003zme.2_Missense_Mutation_p.L166P|C9orf93_uc011lmu.1_Missense_Mutation_p.L259P|C9orf93_uc003zmc.2_Missense_Mutation_p.L259P	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	259	Potential.|Glu-rich.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		ACAAGTGAACTTGAATTTAGC	0.358												
C9orf93	203238	broad.mit.edu	37	9	15874651	15874651	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15874651T>C	uc003zmd.2	+	24	3905	c.3590T>C	c.(3589-3591)GTA>GCA	p.V1197A	C9orf93_uc003zme.2_Missense_Mutation_p.V1112A|C9orf93_uc011lmu.1_Missense_Mutation_p.V1205A|C9orf93_uc003zmf.1_Missense_Mutation_p.V505A	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1197											0				GBM - Glioblastoma multiforme(50;4.84e-07)		CCAGAGGTGGTAGCATGCCAG	0.463												
CNTLN	54875	broad.mit.edu	37	9	17394908	17394908	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:17394908A>T	uc003zmz.2	+	15	2482	c.2456A>T	c.(2455-2457)TAT>TTT	p.Y819F	CNTLN_uc003zmy.2_Missense_Mutation_p.Y819F|CNTLN_uc010mio.2_Missense_Mutation_p.Y498F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	819						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TCTGGACGATATGATTGTAAG	0.418												
CNTLN	54875	broad.mit.edu	37	9	17484474	17484474	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:17484474A>G	uc003zmz.2	+	24	4060	c.4034A>G	c.(4033-4035)CAA>CGA	p.Q1345R	CNTLN_uc003zmy.2_Missense_Mutation_p.Q1346R|CNTLN_uc010mio.2_Missense_Mutation_p.Q1025R	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1346						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ACAGAAGATCAAGTGGTAAGA	0.328												
DENND4C	55667	broad.mit.edu	37	9	19372127	19372127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:19372127A>G	uc003znq.2	+	28	5011	c.4978A>G	c.(4978-4980)AGT>GGT	p.S1660G	DENND4C_uc011lnc.1_Missense_Mutation_p.S990G|DENND4C_uc011lnd.1_Missense_Mutation_p.S948G|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1660						integral to membrane				ovary(1)|skin(1)	2						ACCAAGTGCCAGTGTCGAGTG	0.413												
SLC24A2	25769	broad.mit.edu	37	9	19516300	19516300	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:19516300T>C	uc003zoa.1	-	10	1899	c.1837A>G	c.(1837-1839)ATG>GTG	p.M613V	SLC24A2_uc003zob.1_Missense_Mutation_p.M596V	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	613	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AAGAGCAGCATGATGAAGAGA	0.527												
KIAA1797	54914	broad.mit.edu	37	9	20885231	20885231	+	Splice_Site	SNP	T	T	C	rs145752860		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:20885231T>C	uc003zog.1	+	23	2988	c.2625_splice	c.e23+2	p.E875_splice	KIAA1797_uc003zoh.1_Splice_Site_p.E311_splice	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GTACATGAGGTAGGTTCCCGT	0.363												
KLHL9	55958	broad.mit.edu	37	9	21333894	21333894	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:21333894T>C	uc003zoy.2	-	1	1536	c.965A>G	c.(964-966)GAA>GGA	p.E322G	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	322	Kelch 1.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTGTGCCCTTTCATCATACAT	0.448												
PLAA	9373	broad.mit.edu	37	9	26935204	26935204	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:26935204A>G	uc003zqd.2	-	2	575	c.150T>C	c.(148-150)AGT>AGC	p.S50S	PLAA_uc003zqe.2_Silent_p.S50S	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	50	WD 1.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCCTGTTTGGACTGGAAAGAC	0.393												
C9orf72	203228	broad.mit.edu	37	9	27560292	27560292	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:27560292A>C	uc003zqq.2	-	6	768	c.671T>G	c.(670-672)ATC>AGC	p.I224S		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	224										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)		GTGTGAGCTGATGGCACTGTA	0.323												
ACO1	48	broad.mit.edu	37	9	32423340	32423340	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:32423340T>C	uc003zqw.3	+	9	1149	c.994T>C	c.(994-996)TAT>CAT	p.Y332H	ACO1_uc010mjh.1_Missense_Mutation_p.Y166H|ACO1_uc003zqx.3_Missense_Mutation_p.Y332H|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	332					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAAATTAAAGTATATTAAAAA	0.363												
NFX1	4799	broad.mit.edu	37	9	33369964	33369964	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33369964C>T	uc003zsq.2	+	24	3412	c.3351C>T	c.(3349-3351)GAC>GAT	p.D1117D	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Silent_p.D1118D	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1117					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACTATTTTGACGTCCAGGACT	0.378												
PRSS3	5646	broad.mit.edu	37	9	33796745	33796745	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33796745G>T	uc003ztj.3	+	2	316	c.316G>T	c.(316-318)GGT>TGT	p.G106C	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.G63C|PRSS3_uc003ztl.3_Missense_Mutation_p.G49C	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	106	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCACTTCTGCGGTGGCTCCCT	0.567												
UBAP2	55833	broad.mit.edu	37	9	33948487	33948487	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33948487C>A	uc003ztq.1	-	13	1268	c.1155G>T	c.(1153-1155)TTG>TTT	p.L385F	UBAP2_uc011loc.1_Missense_Mutation_p.L294F|UBAP2_uc011lod.1_Missense_Mutation_p.L118F|UBAP2_uc011loe.1_Missense_Mutation_p.L140F|UBAP2_uc011lof.1_Missense_Mutation_p.L310F|UBAP2_uc011log.1_Missense_Mutation_p.L331F|UBAP2_uc003ztr.2_Missense_Mutation_p.L257F|UBAP2_uc003zts.2_Missense_Mutation_p.L18F	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	385										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAACTGGCCCAAACTCGGAG	0.507												
KIF24	347240	broad.mit.edu	37	9	34257342	34257342	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34257342G>A	uc003zua.3	-	11	2383	c.2263C>T	c.(2263-2265)CCA>TCA	p.P755S	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	755					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCTGATGTGGCGGGATGTTT	0.542												
KIAA1161	57462	broad.mit.edu	37	9	34371269	34371269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34371269G>A	uc003zue.3	-	3	1840	c.1673C>T	c.(1672-1674)GCC>GTC	p.A558V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	558	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGGGCACGGCGTTGCCGCC	0.652												
KIAA1161	57462	broad.mit.edu	37	9	34371837	34371837	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34371837T>C	uc003zue.3	-	3	1272	c.1105A>G	c.(1105-1107)AAA>GAA	p.K369E		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	369	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTGGGGAATTTGACCTCATCG	0.577												
DNAJB5	25822	broad.mit.edu	37	9	34996633	34996633	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:34996633C>T	uc003zvt.2	+	3	721	c.583C>T	c.(583-585)CGT>TGT	p.R195C	DNAJB5_uc003zvs.2_Missense_Mutation_p.R229C|DNAJB5_uc011los.1_Missense_Mutation_p.R267C	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	195				MKITRRR -> IEDHKAS (in Ref. 2; AAM10498).	protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			GATCACAAGGCGTCGCCTCAA	0.612												
C9orf131	138724	broad.mit.edu	37	9	35045821	35045821	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35045821A>C	uc003zvw.2	+	2	3224	c.3195A>C	c.(3193-3195)AAA>AAC	p.K1065N	C9orf131_uc003zvu.2_Missense_Mutation_p.K1017N|C9orf131_uc003zvv.2_Missense_Mutation_p.K992N|C9orf131_uc003zvx.2_Missense_Mutation_p.K1030N	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	1065											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGTTAGCCAAATGCCTGGATA	0.507												
TPM2	7169	broad.mit.edu	37	9	35689707	35689707	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35689707G>A	uc003zxq.2	-	1	347	c.108C>T	c.(106-108)TGC>TGT	p.C36C	TPM2_uc003zxr.2_Silent_p.C36C|TPM2_uc003zxs.2_Silent_p.C36C|TPM2_uc010mkz.2_Silent_p.C36C|TPM2_uc011lpa.1_Silent_p.C36C	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	36	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAACCTGCTTGCAGCGGTCCT	0.672												
CREB3	10488	broad.mit.edu	37	9	35736081	35736081	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:35736081G>A	uc003zxv.2	+	7	1101	c.648G>A	c.(646-648)ATG>ATA	p.M216I	CREB3_uc010mla.2_Missense_Mutation_p.M135I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	240	Cytoplasmic (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TCCAGGCCATGGTGATTGAGA	0.517											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RECK	8434	broad.mit.edu	37	9	36121578	36121578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:36121578C>T	uc003zyv.2	+	20	2673	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	RECK_uc003zyw.2_Missense_Mutation_p.R735C|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	863						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TCAGAAAATCCGCATGCACGT	0.383												
RNF38	152006	broad.mit.edu	37	9	36390590	36390590	+	Silent	SNP	T	T	C	rs149578872	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:36390590T>C	uc003zzh.2	-	2	227	c.36A>G	c.(34-36)GCA>GCG	p.A12A	RNF38_uc003zzi.2_Intron|RNF38_uc003zzj.2_5'UTR|RNF38_uc003zzk.2_Intron|RNF38_uc003zzl.2_Intron|RNF38_uc003zzm.2_5'UTR	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	12							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			CAGGTAGAGATGCTGAATTGG	0.488												
MCART1	92014	broad.mit.edu	37	9	37888367	37888367	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:37888367A>G	uc004aau.2	-	3	925	c.181T>C	c.(181-183)TAT>CAT	p.Y61H	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.Y61H	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	61	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		TTGATGCCATACAGCTGTTGT	0.453												
ANKRD20A3	441425	broad.mit.edu	37	9	67968390	67968390	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:67968390T>C	uc004aeu.2	+	15	2061	c.1949T>C	c.(1948-1950)ATT>ACT	p.I650T	ANKRD20A3_uc010mnn.2_Missense_Mutation_p.I649T	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	650	Potential.										0						AGTTCTGCTATTTCCAAAGTA	0.328												
MAMDC2	256691	broad.mit.edu	37	9	72724699	72724699	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:72724699A>G	uc004ahm.2	+	4	1101	c.484A>G	c.(484-486)ATG>GTG	p.M162V	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	162	MAM 1.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TGAAATCAAGATGACAACCGG	0.393												
SMC5	23137	broad.mit.edu	37	9	72897376	72897376	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:72897376A>G	uc004ahr.2	+	7	975	c.858A>G	c.(856-858)AAA>AAG	p.K286K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	286	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						AAGAAGTAAAACTAGTTCGTG	0.353												
TMEM2	23670	broad.mit.edu	37	9	74332984	74332984	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:74332984T>C	uc011lsa.1	-	13	2819	c.2279A>G	c.(2278-2280)CAT>CGT	p.H760R	TMEM2_uc010mos.2_Missense_Mutation_p.H697R|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	760						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGCATCCTGATGAGGTCGAAA	0.353												
GDA	9615	broad.mit.edu	37	9	74842916	74842916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:74842916C>T	uc004aiq.2	+	9	1063	c.880C>T	c.(880-882)CGA>TGA	p.R294*	GDA_uc011lse.1_Nonsense_Mutation_p.R220*|GDA_uc011lsf.1_Nonsense_Mutation_p.R220*|GDA_uc004air.2_Nonsense_Mutation_p.R294*|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Nonsense_Mutation_p.R216*|GDA_uc004ait.1_Nonsense_Mutation_p.R220*	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	294					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTCCATGAACGAGGAGCATC	0.458												
TRPM6	140803	broad.mit.edu	37	9	77354647	77354647	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:77354647A>G	uc004ajl.1	-	34	5717	c.5479T>C	c.(5479-5481)TGC>CGC	p.C1827R	TRPM6_uc004ajk.1_Missense_Mutation_p.C1822R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.C778R|TRPM6_uc010mpd.1_Missense_Mutation_p.C660R|TRPM6_uc010mpe.1_Missense_Mutation_p.C374R|TRPM6_uc004ajj.1_Missense_Mutation_p.C783R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1827	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						ACCCTGAGGCAAAGATGAAGC	0.463												
TRPM6	140803	broad.mit.edu	37	9	77377141	77377141	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:77377141A>G	uc004ajl.1	-	26	4684	c.4446T>C	c.(4444-4446)AGT>AGC	p.S1482S	TRPM6_uc004ajk.1_Silent_p.S1477S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.S438S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1482	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GAGAGGAATCACTGTCACAAG	0.493												
CEP78	84131	broad.mit.edu	37	9	80858467	80858467	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:80858467T>C	uc004akx.2	+	5	969	c.693T>C	c.(691-693)CGT>CGC	p.R231R	CEP78_uc004aky.3_Silent_p.R231R|CEP78_uc010mpp.2_Silent_p.R231R|CEP78_uc011lsp.1_Silent_p.R144R	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	231					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GCTTAAGACGTATCACACTGA	0.438												
KIF27	55582	broad.mit.edu	37	9	86504088	86504088	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:86504088G>A	uc004ana.2	-	7	2034	c.1890C>T	c.(1888-1890)CAC>CAT	p.H630H	KIF27_uc010mpw.2_Silent_p.H630H|KIF27_uc010mpx.2_Silent_p.H630H	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	630					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GTTCTTCTATGTGACCCAACA	0.433												
NTRK2	4915	broad.mit.edu	37	9	87366958	87366958	+	Missense_Mutation	SNP	T	T	C	rs66731880		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:87366958T>C	uc004aoa.1	+	14	2292	c.1354T>C	c.(1354-1356)TTT>CTT	p.F452L	NTRK2_uc004anv.1_Missense_Mutation_p.F439L|NTRK2_uc004any.1_Missense_Mutation_p.F452L|NTRK2_uc004anz.1_Missense_Mutation_p.F452L|NTRK2_uc011lsz.1_Missense_Mutation_p.F452L|NTRK2_uc011lta.1_Missense_Mutation_p.F452L|NTRK2_uc004aob.1_Missense_Mutation_p.F452L|NTRK2_uc011ltb.1_Missense_Mutation_p.F296L|NTRK2_uc004aoc.2_Missense_Mutation_p.F3L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	452	Helical; (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						GGTAATGCTGTTTCTGCTTAA	0.413										TSP Lung(25;0.17)		
ZCCHC6	79670	broad.mit.edu	37	9	88938154	88938154	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:88938154C>A	uc004aoq.2	-	13	2726	c.2511G>T	c.(2509-2511)CAG>CAT	p.Q837H	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.Q714H|ZCCHC6_uc004aou.2_Missense_Mutation_p.Q837H	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	837	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						TTTCTGATGTCTGGCCCTGTA	0.348												
SHC3	53358	broad.mit.edu	37	9	91793254	91793254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:91793254G>A	uc004aqg.2	-	1	429	c.122C>T	c.(121-123)CCG>CTG	p.P41L		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	41					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						Agccgccgccggggtcgcgcg	0.567												
SECISBP2	79048	broad.mit.edu	37	9	91949479	91949479	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:91949479T>C	uc004aqj.1	+	7	1003	c.923T>C	c.(922-924)TTA>TCA	p.L308S	SECISBP2_uc010mqn.1_Intron|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Missense_Mutation_p.L307S|SECISBP2_uc004aqk.1_Missense_Mutation_p.L235S|SECISBP2_uc010mqo.1_Missense_Mutation_p.L13S|SECISBP2_uc011ltl.1_Missense_Mutation_p.L240S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	308					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						CGACAGACATTATCTACAGAA	0.343												
NOL8	55035	broad.mit.edu	37	9	95062252	95062252	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95062252C>A	uc004arv.2	-	14	3559	c.3222G>T	c.(3220-3222)CAG>CAT	p.Q1074H	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.Q306H|NOL8_uc011ltw.1_Missense_Mutation_p.Q1006H	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1074					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						GAGGGTCTTCCTGCCAGACAA	0.408												
IPPK	64768	broad.mit.edu	37	9	95400351	95400351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95400351G>A	uc004asl.1	-	9	1125	c.848C>T	c.(847-849)CCG>CTG	p.P283L	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	283					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CCCGAGCCCCGGACTCAGGGT	0.687												
IPPK	64768	broad.mit.edu	37	9	95411818	95411818	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95411818A>G	uc004asl.1	-	5	608	c.331T>C	c.(331-333)TAC>CAC	p.Y111H		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	111					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						CACATAGCGTAACCACTGAGA	0.517												
BICD2	23299	broad.mit.edu	37	9	95481493	95481493	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95481493G>A	uc004aso.1	-	5	1491	c.1434C>T	c.(1432-1434)GGC>GGT	p.G478G	BICD2_uc004asp.1_Silent_p.G478G	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	478	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						TGAGTGCCTGGCCCTCAGCCT	0.677												
ZNF484	83744	broad.mit.edu	37	9	95609231	95609231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95609231C>T	uc004asu.1	-	5	1987	c.1838G>A	c.(1837-1839)TGT>TAT	p.C613Y	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.C615Y|ZNF484_uc010mrb.1_Missense_Mutation_p.C577Y|ZNF484_uc004asv.1_Missense_Mutation_p.C577Y	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	613	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGATTTCCCACAAATACTGCA	0.408												
PHF2	5253	broad.mit.edu	37	9	96415507	96415507	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:96415507T>C	uc004aub.2	+	6	796	c.649T>C	c.(649-651)TGG>CGG	p.W217R	PHF2_uc011lug.1_Missense_Mutation_p.W100R	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	217	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAAACTGTCATGGGTAGAAAA	0.498												
C9orf3	84909	broad.mit.edu	37	9	97555117	97555117	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:97555117C>T	uc004ava.2	+	3	1170	c.1035C>T	c.(1033-1035)TGC>TGT	p.C345C	C9orf3_uc004aux.1_Silent_p.C345C|C9orf3_uc004auy.2_Silent_p.C345C|C9orf3_uc004auz.1_Silent_p.C345C	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	345					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGTGGGATGCTGGACAGAAA	0.448												
C9orf3	84909	broad.mit.edu	37	9	97843020	97843020	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:97843020G>A	uc004ava.2	+	14	2412	c.2277G>A	c.(2275-2277)ACG>ACA	p.T759T	C9orf3_uc004auy.2_Silent_p.T660T|C9orf3_uc004auz.1_Silent_p.T660T|C9orf3_uc004avc.2_Silent_p.T214T|C9orf3_uc011luj.1_Silent_p.T121T|C9orf3_uc011luk.1_Silent_p.T100T|C9orf3_uc004avd.2_Silent_p.T121T	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	759					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACAAGTTCACGAAAGCCTACA	0.527												
C9orf102	375748	broad.mit.edu	37	9	98718286	98718286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:98718286A>G	uc004avt.3	+	13	2359	c.1971A>G	c.(1969-1971)ATA>ATG	p.I657M	C9orf102_uc011lum.1_Missense_Mutation_p.I359M|C9orf102_uc010mry.1_Missense_Mutation_p.I359M|C9orf102_uc010mrz.2_Missense_Mutation_p.I468M|C9orf102_uc004avu.2_Translation_Start_Site	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	657	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TACGACAGATATACAAGCAGG	0.333												
CDC14B	8555	broad.mit.edu	37	9	99284802	99284802	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99284802G>A	uc004awj.2	-	12	1781	c.1329C>T	c.(1327-1329)AAC>AAT	p.N443N	CDC14B_uc004awk.2_Silent_p.N443N|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.N406N	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	443					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GAGGAATAGCGTTTGTTTTGG	0.418												
ZNF782	158431	broad.mit.edu	37	9	99581062	99581062	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99581062T>C	uc004awp.1	-	6	1524	c.1243A>G	c.(1243-1245)ACT>GCT	p.T415A	ZNF782_uc011lup.1_Missense_Mutation_p.T283A	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	415	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CCCGTGTGAGTTCTCTGATGT	0.468												
KIAA1529	57653	broad.mit.edu	37	9	100119941	100119941	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100119941A>G	uc011lut.1	+	37	4619	c.3846A>G	c.(3844-3846)TTA>TTG	p.L1282L	KIAA1529_uc004axe.1_Silent_p.L1114L|KIAA1529_uc004axg.1_Silent_p.L1143L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L299L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CAAATGGATTAAATTTCTCTC	0.368												
ANP32B	10541	broad.mit.edu	37	9	100767349	100767349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100767349A>G	uc004aya.2	+	4	780	c.431A>G	c.(430-432)TAC>TGC	p.Y144C		NM_006401	NP_006392	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	144	LRRCT.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(62;0.0559)				CAGCTTACCTACTTGGATGGC	0.517												
TBC1D2	55357	broad.mit.edu	37	9	100971115	100971115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:100971115C>T	uc011lvb.1	-	9	2165	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	TBC1D2_uc004ayp.2_Missense_Mutation_p.R202H|TBC1D2_uc004ayq.2_Missense_Mutation_p.R662H|TBC1D2_uc004ayr.2_Missense_Mutation_p.R444H|TBC1D2_uc004ayo.3_Missense_Mutation_p.R662H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	662	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGTGCTCGCGGGCCTGGCC	0.652												
GABBR2	9568	broad.mit.edu	37	9	101243237	101243237	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:101243237T>C	uc004ays.2	-	5	931	c.775A>G	c.(775-777)ATG>GTG	p.M259V		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	259	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTGCTGCCATATTCTGGTCA	0.453												
TEX10	54881	broad.mit.edu	37	9	103111562	103111562	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:103111562A>G	uc004bas.2	-	2	299	c.84T>C	c.(82-84)GCT>GCC	p.A28A	TEX10_uc011lvf.1_5'Flank|TEX10_uc011lvg.1_Silent_p.A31A|TEX10_uc011lvh.1_Intron|TEX10_uc004bat.2_Silent_p.A28A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	28						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTGTAGGAGTAGCATTTTGTA	0.318												
OR13C5	138799	broad.mit.edu	37	9	107361324	107361324	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:107361324A>G	uc011lvp.1	-	1	371	c.371T>C	c.(370-372)GTG>GCG	p.V124A		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GCAGATAGCCACATAGCGGTC	0.522												
OR13C2	392376	broad.mit.edu	37	9	107367363	107367363	+	Silent	SNP	C	C	T	rs78524552		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:107367363C>T	uc011lvq.1	-	1	546	c.546G>A	c.(544-546)CTG>CTA	p.L182L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCATGACAGCCAGAATTTCAC	0.403												
TMEM38B	55151	broad.mit.edu	37	9	108467986	108467986	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:108467986T>C	uc004bcu.1	+	2	338	c.221T>C	c.(220-222)TTG>TCG	p.L74S	TMEM38B_uc010mtn.1_Missense_Mutation_p.L74S	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	74	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						GAGCCTCCATTGAAGTTTCTT	0.408												
EPB41L4B	54566	broad.mit.edu	37	9	112027297	112027297	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:112027297A>T	uc004bdz.1	-	5	836	c.541T>A	c.(541-543)TTT>ATT	p.F181I	EPB41L4B_uc004bea.2_Missense_Mutation_p.F181I	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	181	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TGTAAAACAAACAGGTACCTG	0.413												
LPAR1	1902	broad.mit.edu	37	9	113703994	113703994	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:113703994A>G	uc004bfa.2	-	4	755	c.500T>C	c.(499-501)GTC>GCC	p.V167A	LPAR1_uc011lwm.1_Missense_Mutation_p.V168A|LPAR1_uc004bfb.2_Missense_Mutation_p.V167A|LPAR1_uc004bfc.2_Missense_Mutation_p.V167A|LPAR1_uc011lwn.1_Missense_Mutation_p.V149A|LPAR1_uc011lwo.1_Missense_Mutation_p.V168A|LPAR1_uc010mub.2_Missense_Mutation_p.V167A	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	167	Helical; Name=4; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						GACCACAATGACCACCACTAC	0.512												
C9orf84	158401	broad.mit.edu	37	9	114538127	114538127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114538127A>G	uc004bfr.2	-	3	329	c.194T>C	c.(193-195)GTC>GCC	p.V65A	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.V129A	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	65										ovary(2)	2						AGGGGTAAAGACTTCATTGTA	0.343												
ROD1	9991	broad.mit.edu	37	9	114986168	114986168	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114986168T>C	uc004bfw.2	-	15	1809	c.1622A>G	c.(1621-1623)CAC>CGC	p.H541R	ROD1_uc004bfv.2_Missense_Mutation_p.H547R|ROD1_uc004bfx.2_Missense_Mutation_p.H544R|ROD1_uc011lwu.1_Missense_Mutation_p.H513R|ROD1_uc004bfy.2_Missense_Mutation_p.H446R|ROD1_uc004bfz.2_Intron	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	541	RRM 4.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						TCTGAGGTGGTGATTTTCTCC	0.398												
ALAD	210	broad.mit.edu	37	9	116153209	116153209	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116153209T>C	uc011lxf.1	-	5	468	c.266A>G	c.(265-267)GAG>GGG	p.E89G	ALAD_uc011lxe.1_Missense_Mutation_p.E72G|ALAD_uc004bhl.3_Missense_Mutation_p.E118G	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	89					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	GGAACCCCGCTCGTCCTAGGG	0.572												
RGS3	5998	broad.mit.edu	37	9	116276764	116276764	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116276764T>C	uc004bhq.2	+	16	1713	c.1504T>C	c.(1504-1506)TCC>CCC	p.S502P	RGS3_uc004bhr.2_Missense_Mutation_p.S390P|RGS3_uc004bhs.2_Missense_Mutation_p.S392P|RGS3_uc004bht.2_Missense_Mutation_p.S221P|RGS3_uc010muy.2_Missense_Mutation_p.S221P|RGS3_uc004bhu.2_Missense_Mutation_p.S128P	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	502					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						TAAAGGGAAGTCCTACACAGG	0.552												
AMBP	259	broad.mit.edu	37	9	116823776	116823776	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116823776A>G	uc004bie.3	-	8	1044	c.781T>C	c.(781-783)TAC>CAC	p.Y261H	AMBP_uc011lxk.1_Missense_Mutation_p.Y202H|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	261	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCGCCGTACTGGAAAGTC	0.577												
KIF12	113220	broad.mit.edu	37	9	116857556	116857556	+	Missense_Mutation	SNP	G	G	A	rs147234281	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:116857556G>A	uc004bif.2	-	7	776	c.538C>T	c.(538-540)CGG>TGG	p.R180W	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	313					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						TTGCTGTCCCGGAAAGGGATG	0.517												
C9orf91	203197	broad.mit.edu	37	9	117405489	117405489	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:117405489G>A	uc004bjd.3	+	9	1142	c.925G>A	c.(925-927)GCA>ACA	p.A309T	C9orf91_uc004bje.3_Missense_Mutation_p.A288T|C9orf91_uc004bjf.3_Missense_Mutation_p.A208T	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	309						integral to membrane				pancreas(1)	1						GCTCCCTCAGGCAATGGGGAC	0.592												
CDK5RAP2	55755	broad.mit.edu	37	9	123220874	123220874	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:123220874G>A	uc004bkf.2	-	20	2410	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G	CDK5RAP2_uc004bke.2_Silent_p.G28G|CDK5RAP2_uc004bkg.2_Silent_p.G743G|CDK5RAP2_uc011lxw.1_Silent_p.G8G|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.G8G|CDK5RAP2_uc011lya.1_Silent_p.G8G|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Silent_p.G510G	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	743					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CATTTTTGCAGCCTCCTTTGG	0.448												
GSN	2934	broad.mit.edu	37	9	124064424	124064424	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:124064424T>C	uc004blf.1	+	2	389	c.328T>C	c.(328-330)TAT>CAT	p.Y110H	GSN_uc004bld.1_Missense_Mutation_p.Y59H|GSN_uc010mvq.1_Missense_Mutation_p.Y70H|GSN_uc010mvr.1_Missense_Mutation_p.Y70H|GSN_uc010mvu.1_Missense_Mutation_p.Y59H|GSN_uc010mvt.1_Missense_Mutation_p.Y59H|GSN_uc010mvs.1_Missense_Mutation_p.Y59H|GSN_uc004ble.1_Missense_Mutation_p.Y59H|GSN_uc010mvv.1_Missense_Mutation_p.Y59H|GSN_uc011lyh.1_Missense_Mutation_p.Y76H|GSN_uc011lyi.1_Missense_Mutation_p.Y59H|GSN_uc011lyj.1_Missense_Mutation_p.Y83H	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	110	Actin-severing (Potential).|Gelsolin-like 1.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						AAATCTGCAGTATGACCTCCA	0.612												
PTGS1	5742	broad.mit.edu	37	9	125141137	125141137	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125141137T>C	uc004bmg.1	+	5	571	c.436T>C	c.(436-438)TAT>CAT	p.Y146H	PTGS1_uc011lys.1_Missense_Mutation_p.Y121H|PTGS1_uc010mwb.1_Missense_Mutation_p.Y37H|PTGS1_uc004bmf.1_Missense_Mutation_p.Y146H|PTGS1_uc004bmh.1_Missense_Mutation_p.Y37H|PTGS1_uc011lyt.1_Missense_Mutation_p.Y37H	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	146					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CAACGTGAGCTATTACACTCG	0.527												
OR1L6	392390	broad.mit.edu	37	9	125512494	125512494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125512494G>A	uc011lzc.1	+	1	476	c.476G>A	c.(475-477)CGG>CAG	p.R159Q		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	159	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCCATCGACCGGCTGGTGGCC	0.517												
PDCL	5082	broad.mit.edu	37	9	125582652	125582652	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125582652G>A	uc004bmz.1	-	4	714	c.618C>T	c.(616-618)GCC>GCT	p.A206A	PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	206					signal transduction|visual perception						0						GGTACTCTGCGGCAAGGCAGA	0.478												
ZBTB6	10773	broad.mit.edu	37	9	125673698	125673698	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:125673698A>G	uc004bnh.2	-	2	743	c.654T>C	c.(652-654)TGT>TGC	p.C218C		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGAAGGATACAAATTTCAT	0.403												
DENND1A	57706	broad.mit.edu	37	9	126213008	126213008	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:126213008C>A	uc004bnz.1	-	18	1553	c.1320G>T	c.(1318-1320)ATG>ATT	p.M440I	DENND1A_uc011lzl.1_Missense_Mutation_p.M215I|DENND1A_uc004bny.1_Missense_Mutation_p.M179I|DENND1A_uc011lzm.1_Missense_Mutation_p.M408I|DENND1A_uc004boa.1_Missense_Mutation_p.M440I|DENND1A_uc004bob.1_Missense_Mutation_p.M410I|DENND1A_uc004boc.2_Missense_Mutation_p.M408I	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	440						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						CTTTTATTCCCATTTTTGCAT	0.353												
LHX2	9355	broad.mit.edu	37	9	126777427	126777427	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:126777427G>A	uc004boe.1	+	3	1089	c.350G>A	c.(349-351)CGC>CAC	p.R117H	LHX2_uc010mwi.1_Missense_Mutation_p.R125H	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	117	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCTGCGCCCGCTGCCACCTG	0.627												
WDR38	401551	broad.mit.edu	37	9	127618544	127618544	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:127618544T>C	uc004box.2	+	5	487	c.431T>C	c.(430-432)GTT>GCT	p.V144A	WDR38_uc011lzn.1_Missense_Mutation_p.V133A|WDR38_uc011lzo.1_Missense_Mutation_p.V144A|WDR38_uc011lzp.1_Missense_Mutation_p.V95A	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	144											0						CGCCTCTTAGTTGGGCACCGT	0.642											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPP6C	5537	broad.mit.edu	37	9	127920587	127920587	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:127920587A>G	uc004bpg.3	-	4	533	c.312T>C	c.(310-312)CCT>CCC	p.P104P	PPP6C_uc010mwv.2_Silent_p.P141P|PPP6C_uc010mww.2_Silent_p.P82P|PPP6C_uc011lzr.1_Intron	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	104					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TAATACGATCAGGCCATTTAG	0.358												
FAM125B	89853	broad.mit.edu	37	9	129184204	129184204	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:129184204A>G	uc004bqh.1	+	7	815	c.734A>G	c.(733-735)CAC>CGC	p.H245R	FAM125B_uc011lzy.1_Missense_Mutation_p.H230R|FAM125B_uc010mxd.2_Missense_Mutation_p.H238R	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	245					protein transport	late endosome membrane					0						GAGTACCAGCACTCCAATTTG	0.572												
GARNL3	84253	broad.mit.edu	37	9	130075748	130075748	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130075748C>T	uc011mae.1	+	4	749	c.348C>T	c.(346-348)GCC>GCT	p.A116A	GARNL3_uc011mad.1_Silent_p.A94A	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	116					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GAAACGATGCCGAGAAGAGCC	0.443												
ZNF79	7633	broad.mit.edu	37	9	130206787	130206787	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130206787A>G	uc004bqw.3	+	5	1222	c.808A>G	c.(808-810)ACC>GCC	p.T270A	ZNF79_uc011maf.1_Missense_Mutation_p.T246A|ZNF79_uc011mag.1_Missense_Mutation_p.T246A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	270	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						ACACCAGCGAACCCACACCGG	0.517												
LRSAM1	90678	broad.mit.edu	37	9	130251732	130251732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130251732C>T	uc004brb.1	+	19	1702	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	LRSAM1_uc010mxk.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004brc.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004brd.1_Nonsense_Mutation_p.Q453*|LRSAM1_uc004bre.1_Nonsense_Mutation_p.Q33*	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	453					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GAGCGCGATGCAGAAGGCTGC	0.602												
FAM129B	64855	broad.mit.edu	37	9	130272565	130272565	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130272565G>A	uc004brh.2	-	9	1223	c.1021C>T	c.(1021-1023)CCC>TCC	p.P341S	FAM129B_uc004bri.2_Missense_Mutation_p.P328S|FAM129B_uc004brj.3_Missense_Mutation_p.P341S	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	341							protein binding				0						GGGATGTAGGGCTGGACATGG	0.632												
FAM102A	399665	broad.mit.edu	37	9	130707135	130707135	+	Silent	SNP	G	G	A	rs139831125		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130707135G>A	uc004bsx.1	-	9	1039	c.960C>T	c.(958-960)GAC>GAT	p.D320D	FAM102A_uc004bsw.1_Silent_p.D178D|FAM102A_uc004bsy.1_Silent_p.D48D	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	320										ovary(1)	1						TCCGCGTGTCGTCCACCCAGG	0.617												
FAM102A	399665	broad.mit.edu	37	9	130710444	130710444	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130710444C>T	uc004bsx.1	-	6	601	c.522G>A	c.(520-522)ACG>ACA	p.T174T	FAM102A_uc004bsw.1_Silent_p.T32T|FAM102A_uc004bsy.1_Translation_Start_Site	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	174	Ser-rich.									ovary(1)	1						CACCCTTACACGTCAGCTGCA	0.627												
DNM1	1759	broad.mit.edu	37	9	130980867	130980867	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:130980867C>G	uc011mau.1	+	3	329	c.242C>G	c.(241-243)GCC>GGC	p.A81G	DNM1_uc010mxr.2_Missense_Mutation_p.A81G|DNM1_uc011mat.1_Missense_Mutation_p.A81G	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	81					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						GCAGAATATGCCGAGTTCCTG	0.587												
SPTAN1	6709	broad.mit.edu	37	9	131349934	131349934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131349934G>A	uc004bvl.3	+	20	2941	c.2828G>A	c.(2827-2829)GGC>GAC	p.G943D	SPTAN1_uc011mbg.1_Missense_Mutation_p.G943D|SPTAN1_uc011mbh.1_Missense_Mutation_p.G955D|SPTAN1_uc004bvm.3_Missense_Mutation_p.G943D|SPTAN1_uc004bvn.3_Missense_Mutation_p.G943D	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	943	Spectrin 10.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AGTGCCTACGGCAGCAGCATC	0.512												
NUP188	23511	broad.mit.edu	37	9	131745643	131745643	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131745643C>A	uc004bws.1	+	18	1890	c.1868C>A	c.(1867-1869)GCC>GAC	p.A623D	NUP188_uc004bwu.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	623					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						GTTTTGGCTGCCCGCAATCCA	0.393												
IER5L	389792	broad.mit.edu	37	9	131940298	131940298	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131940298T>C	uc010myt.1	-	1	243	c.34A>G	c.(34-36)AGC>GGC	p.S12G		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	immediate early response 5-like	12											0		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		AGGGAGATGCTGATCAGGCTC	0.667												
ASS1	445	broad.mit.edu	37	9	133352330	133352330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133352330G>A	uc004bzm.2	+	10	1026	c.670G>A	c.(670-672)GAG>AAG	p.E224K	ASS1_uc004bzn.2_Missense_Mutation_p.E224K|ASS1_uc010mza.2_Missense_Mutation_p.E300K|ASS1_uc004bzo.2_Missense_Mutation_p.E205K|ASS1_uc010mzb.2_Missense_Mutation_p.E262K|ASS1_uc004bzp.2_Missense_Mutation_p.E224K|ASS1_uc010mzc.2_Missense_Mutation_p.E224K	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	224					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGACATTCTCGAGATCGAGTT	0.567												
LAMC3	10319	broad.mit.edu	37	9	133952676	133952676	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133952676A>G	uc004caa.1	+	22	3830	c.3732A>G	c.(3730-3732)GCA>GCG	p.A1244A	LAMC3_uc010mze.1_5'Flank	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1244	Domain II and I.				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)		AAGTTGGCGCAGATACAGCCC	0.617												
NUP214	8021	broad.mit.edu	37	9	134020113	134020113	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:134020113T>C	uc004cag.2	+	12	1852	c.1741T>C	c.(1741-1743)TCT>CCT	p.S581P	NUP214_uc004cah.2_Missense_Mutation_p.S581P|NUP214_uc004cai.2_Missense_Mutation_p.S10P|NUP214_uc004caf.1_Missense_Mutation_p.S581P|NUP214_uc010mzf.2_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	581	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)		ACCCTCAACCTCTGCTGTCAA	0.413			T	DEK|SET|ABL1	AML|T-ALL							
NUP214	8021	broad.mit.edu	37	9	134073761	134073761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:134073761G>A	uc004cag.2	+	29	4991	c.4880G>A	c.(4879-4881)GGC>GAC	p.G1627D	NUP214_uc004cah.2_Missense_Mutation_p.G1617D|NUP214_uc004cai.2_Missense_Mutation_p.G1057D|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G453D|NUP214_uc011mcf.1_Missense_Mutation_p.G404D|NUP214_uc010mzh.1_Missense_Mutation_p.G141D|NUP214_uc010mzi.1_Missense_Mutation_p.G141D	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1627	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 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)		GTTGCTCCCGGCCCATCTGCA	0.572			T	DEK|SET|ABL1	AML|T-ALL							
SETX	23064	broad.mit.edu	37	9	135140330	135140330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:135140330G>A	uc004cbk.2	-	26	7513	c.7330C>T	c.(7330-7332)CGT>TGT	p.R2444C	SETX_uc004cbj.2_Missense_Mutation_p.R2092C|SETX_uc010mzt.2_Missense_Mutation_p.R2030C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2444					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGGCACCACGCTTCTGAGCA	0.448												
CEL	1056	broad.mit.edu	37	9	135942495	135942495	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:135942495C>T	uc010naa.1	+	7	823	c.807C>T	c.(805-807)TGC>TGT	p.C269C		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	266					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AGGTGGGTTGCCCTGTGGGTG	0.632												
RPL7A	6130	broad.mit.edu	37	9	136217103	136217103	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136217103A>G	uc004cde.1	+	5	454	c.424A>G	c.(424-426)ACC>GCC	p.T142A	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	142					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGGAGTTAACACCGTCACCAC	0.522												
C9orf96	169436	broad.mit.edu	37	9	136256568	136256568	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136256568G>T	uc004cdk.2	+	7	640	c.579G>T	c.(577-579)GAG>GAT	p.E193D	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	193	Protein kinase.						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)		TTCGTGCGGAGGAAGGTGGCA	0.562												
VAV2	7410	broad.mit.edu	37	9	136671273	136671273	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:136671273T>C	uc004ces.2	-	9	812	c.766A>G	c.(766-768)AGG>GGG	p.R256G	VAV2_uc004cer.2_Missense_Mutation_p.R251G	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	256	DH.				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)		TCGATGGCCCTCAGGAAGCTG	0.622												
COL5A1	1289	broad.mit.edu	37	9	137623460	137623460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:137623460C>T	uc004cfe.2	+	8	1665	c.1283C>T	c.(1282-1284)TCG>TTG	p.S428L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	428	Nonhelical 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)		AGCTCCCCGTCGGAGATCGGG	0.562												
GLT6D1	360203	broad.mit.edu	37	9	138516095	138516095	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138516095A>G	uc010nbd.1	-	5	933	c.679T>C	c.(679-681)TAT>CAT	p.Y227H		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	227	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AAGTTGCCATAATAGAAATCT	0.443												
KCNT1	57582	broad.mit.edu	37	9	138594206	138594206	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138594206C>T	uc011mdq.1	+	1	176	c.102C>T	c.(100-102)TGC>TGT	p.C34C	KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Silent_p.C34C|SOHLH1_uc010nbe.2_5'Flank|SOHLH1_uc004cgl.2_5'Flank	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	34						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGGCCAATGCGCCCCCAGGT	0.502												
KCNT1	57582	broad.mit.edu	37	9	138662709	138662709	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138662709C>T	uc011mdq.1	+	18	1850	c.1776C>T	c.(1774-1776)GGC>GGT	p.G592G	KCNT1_uc011mdr.1_Silent_p.G419G|KCNT1_uc010nbf.2_Silent_p.G547G|KCNT1_uc004cgo.1_Silent_p.G341G	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	592						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGGTATGGCGTGTGCCTCA	0.652												
KCNT1	57582	broad.mit.edu	37	9	138676625	138676625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:138676625G>A	uc011mdq.1	+	27	3120	c.3046G>A	c.(3046-3048)GAC>AAC	p.D1016N	KCNT1_uc011mdr.1_Missense_Mutation_p.D843N|KCNT1_uc010nbf.2_Missense_Mutation_p.D971N|KCNT1_uc004cgo.1_Missense_Mutation_p.D765N	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1016						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACCGAGGGCGACCTGTGGAT	0.637												
QSOX2	169714	broad.mit.edu	37	9	139100687	139100687	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139100687T>A	uc010nbi.2	-	12	2022	c.1984A>T	c.(1984-1986)AGT>TGT	p.S662C		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	662	Helical; (Potential).				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACACAGAGACTCATGTCCAGG	0.612												
NOTCH1	4851	broad.mit.edu	37	9	139395173	139395173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139395173T>C	uc004chz.2	-	31	5765	c.5765A>G	c.(5764-5766)AAC>AGC	p.N1922S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1922	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCTGTCTGGTTGTGCAGGCT	0.692			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
NOTCH1	4851	broad.mit.edu	37	9	139397686	139397686	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139397686C>T	uc004chz.2	-	27	5115	c.5115G>A	c.(5113-5115)GCG>GCA	p.A1705A	NOTCH1_uc004cia.1_Silent_p.A935A	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1705	Extracellular (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G1705*(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGAGGCGAGCGCTCCCAGGA	0.647			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
TPRN	286262	broad.mit.edu	37	9	140093527	140093527	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140093527T>C	uc004clt.2	-	1	1454	c.1454A>G	c.(1453-1455)TAC>TGC	p.Y485C	TPRN_uc004clu.2_Missense_Mutation_p.Y485C	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	546					sensory perception of sound	stereocilium					0						CACGGTGGGGTAGCGCTTCTT	0.632												
NDOR1	27158	broad.mit.edu	37	9	140110812	140110812	+	Missense_Mutation	SNP	G	G	A	rs143421840		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140110812G>A	uc004clw.2	+	14	1849	c.1738G>A	c.(1738-1740)GCG>ACG	p.A580T	NDOR1_uc004clx.2_Missense_Mutation_p.A589T|NDOR1_uc011mes.1_Missense_Mutation_p.A573T|NDOR1_uc004cly.2_3'UTR	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	580					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGACGCAGCCGCGTATCTAGC	0.672												
PNPLA7	375775	broad.mit.edu	37	9	140435173	140435173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140435173T>C	uc004cnf.2	-	7	930	c.593A>G	c.(592-594)GAC>GGC	p.D198G	PNPLA7_uc010ncj.1_Missense_Mutation_p.D223G	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	198	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCGGTGCCGTCCTGCGCTTG	0.701												
CACNA1B	774	broad.mit.edu	37	9	140952269	140952269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:140952269C>T	uc004cog.2	+	27	4199	c.4054C>T	c.(4054-4056)CTC>TTC	p.L1352F	CACNA1B_uc011mfd.1_Missense_Mutation_p.L882F|CACNA1B_uc004coi.2_Missense_Mutation_p.L566F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1352	III.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGACAATGTGCTCTGGGCTCT	0.552												
CSF2RA	1438	broad.mit.edu	37	X	1409328	1409328	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:1409328A>G	uc010nct.2	+	8	894	c.572A>G	c.(571-573)TAC>TGC	p.Y191C	CSF2RA_uc011mhb.1_Missense_Mutation_p.Y191C|CSF2RA_uc004cpq.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpn.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpo.2_Missense_Mutation_p.Y191C|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.Y58C|CSF2RA_uc004cpp.2_Missense_Mutation_p.Y191C|CSF2RA_uc010ncv.2_Missense_Mutation_p.Y191C|CSF2RA_uc004cpr.2_Missense_Mutation_p.Y191C	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	191	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCGCAATTACTTTCTGGTT	0.423												
SFRS17A	8227	broad.mit.edu	37	X	1712692	1712692	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:1712692C>T	uc004cqa.2	+	2	533	c.337C>T	c.(337-339)CGC>TGC	p.R113C	SFRS17A_uc010ncx.1_Missense_Mutation_p.R113C|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	113					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGAAGGTGCGCGCGGCCGA	0.637												
GYG2	8908	broad.mit.edu	37	X	2773049	2773049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:2773049G>A	uc004cqs.1	+	6	715	c.433G>A	c.(433-435)GAT>AAT	p.D145N	GYG2_uc004cqt.1_Missense_Mutation_p.D114N|GYG2_uc004cqu.1_Missense_Mutation_p.D114N|GYG2_uc004cqv.1_5'UTR|GYG2_uc004cqw.1_Missense_Mutation_p.D105N|GYG2_uc004cqx.1_Missense_Mutation_p.D114N|GYG2_uc010ndc.1_5'UTR	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	145					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCAATGTCGATGAGCTGTT	0.473												
ARSE	415	broad.mit.edu	37	X	2854853	2854853	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:2854853G>A	uc004crc.3	-	10	1591	c.1341C>T	c.(1339-1341)CAC>CAT	p.H447H	ARSE_uc011mhi.1_Silent_p.H393H|ARSE_uc011mhh.1_Silent_p.H472H	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	447					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGGTCTGAGTGTTGGGCTG	0.567												
SHROOM2	357	broad.mit.edu	37	X	9900831	9900831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:9900831C>T	uc004csu.1	+	6	3598	c.3508C>T	c.(3508-3510)CGC>TGC	p.R1170C	SHROOM2_uc004csv.2_Missense_Mutation_p.R5C|SHROOM2_uc011mic.1_Missense_Mutation_p.R5C|SHROOM2_uc004csw.1_Missense_Mutation_p.R5C	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	1170					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GGAGACCTCGCGCTCCCCCTC	0.637												
OFD1	8481	broad.mit.edu	37	X	13764477	13764477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:13764477C>T	uc004cvp.3	+	7	916	c.557C>T	c.(556-558)GCT>GTT	p.A186V	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.A46V|OFD1_uc010nen.2_Missense_Mutation_p.A185V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.A185V|OFD1_uc004cvv.3_Missense_Mutation_p.A185V|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	186					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						TTTGCAGATGCTTACCCTCAG	0.373												
AP1S2	8905	broad.mit.edu	37	X	15864108	15864108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:15864108G>A	uc004cxi.2	-	3	496	c.206C>T	c.(205-207)GCT>GTT	p.A69V	AP1S2_uc004cxh.2_Missense_Mutation_p.A69V|AP1S2_uc010nex.2_Missense_Mutation_p.A111V|AP1S2_uc011mis.1_Missense_Mutation_p.A111V|AP1S2_uc011mit.1_Missense_Mutation_p.A111V|AP1S2_uc011miu.1_Missense_Mutation_p.A111V	NM_003916	NP_003907	P56377	AP1S2_HUMAN	adaptor-related protein complex 1 sigma 2	69					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity				0	Hepatocellular(33;0.183)					ATCCTCAATAGCACAGCAAAA	0.299												
TXLNG	55787	broad.mit.edu	37	X	16859704	16859704	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:16859704G>A	uc004cxq.1	+	10	1453	c.1402G>A	c.(1402-1404)GCG>ACG	p.A468T	TXLNG_uc010ney.1_Missense_Mutation_p.A336T	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	468					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						catcaaagcggcGAACAGGGA	0.453												
NHS	4810	broad.mit.edu	37	X	17744154	17744154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:17744154C>T	uc004cxx.2	+	6	2203	c.1865C>T	c.(1864-1866)TCG>TTG	p.S622L	NHS_uc011mix.1_Missense_Mutation_p.S643L|NHS_uc004cxy.2_Missense_Mutation_p.S466L|NHS_uc004cxz.2_Missense_Mutation_p.S445L|NHS_uc004cya.2_Missense_Mutation_p.S345L	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	622						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					ACGTGCCCCTCGCAGACCTCA	0.572												
BEND2	139105	broad.mit.edu	37	X	18234721	18234721	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:18234721T>G	uc004cyj.3	-	2	312	c.158A>C	c.(157-159)AAT>ACT	p.N53T	BEND2_uc010nfb.2_Missense_Mutation_p.N53T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	53										ovary(3)|kidney(1)|central_nervous_system(1)	5						ATCAGTGGGATTATCTGCTGT	0.398												
CDKL5	6792	broad.mit.edu	37	X	18631319	18631319	+	Missense_Mutation	SNP	A	A	G	rs55803460	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:18631319A>G	uc004cym.2	+	15	2453	c.2200A>G	c.(2200-2202)ACT>GCT	p.T734A	CDKL5_uc004cyn.2_Missense_Mutation_p.T734A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	734				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					TAATGTGTCAACTAGAGTTTC	0.358												
CNKSR2	22866	broad.mit.edu	37	X	21667109	21667109	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:21667109A>G	uc004czx.1	+	21	2889	c.2853A>G	c.(2851-2853)AAA>AAG	p.K951K	CNKSR2_uc011mjo.1_Silent_p.K921K	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	951					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						TGAATGAAAAACTACACCGGC	0.353												
ZFX	7543	broad.mit.edu	37	X	24228590	24228590	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24228590T>C	uc004dbf.2	+	9	1773	c.1515T>C	c.(1513-1515)ACT>ACC	p.T505T	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Silent_p.T544T|ZFX_uc010nfz.2_Silent_p.T161T	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	505	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						CTTTGTTTACTCACAAAATGG	0.463												
PDK3	5165	broad.mit.edu	37	X	24549780	24549780	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24549780T>C	uc004dbg.2	+	10	1199	c.970T>C	c.(970-972)TTT>CTT	p.F324L	PDK3_uc004dbh.2_Missense_Mutation_p.F324L	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	324	ATP.|Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ATAGGCTGGATTTGGTTATGG	0.358												
PCYT1B	9468	broad.mit.edu	37	X	24608229	24608229	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:24608229A>T	uc004dbi.2	-	4	630	c.397T>A	c.(397-399)TAC>AAC	p.Y133N	PCYT1B_uc004dbk.3_Missense_Mutation_p.Y133N|PCYT1B_uc004dbj.2_Missense_Mutation_p.Y115N	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	133	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	AGAGCTTCGTATCTCTCGGCT	0.453												
GK	2710	broad.mit.edu	37	X	30686191	30686191	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:30686191G>A	uc004dch.3	+	3	394	c.215G>A	c.(214-216)TGT>TAT	p.C72Y	GK_uc010ngj.2_Missense_Mutation_p.C72Y|GK_uc004dci.3_Missense_Mutation_p.C72Y|GK_uc011mjz.1_Translation_Start_Site|GK_uc011mka.1_Intron|GK_uc010ngk.2_Intron	NM_203391	NP_976325	P32189	GLPK_HUMAN	glycerol kinase isoform a	72					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)	1						GAGAAAACATGTGAGAAACTT	0.328												
DMD	1756	broad.mit.edu	37	X	32613901	32613901	+	Silent	SNP	T	T	C	rs144372300		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:32613901T>C	uc004dda.1	-	13	1819	c.1575A>G	c.(1573-1575)GCA>GCG	p.A525A	DMD_uc004dcz.2_Silent_p.A402A|DMD_uc004dcy.1_Silent_p.A521A|DMD_uc004ddb.1_Silent_p.A517A|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.A517A|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	525	Spectrin 2.		Missing (in BMD).		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)				AAGCAGCAGTTGCGTGATCTC	0.348												
DMD	1756	broad.mit.edu	37	X	32613904	32613904	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:32613904G>A	uc004dda.1	-	13	1816	c.1572C>T	c.(1570-1572)CAC>CAT	p.H524H	DMD_uc004dcz.2_Silent_p.H401H|DMD_uc004dcy.1_Silent_p.H520H|DMD_uc004ddb.1_Silent_p.H516H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.H516H|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	524	Spectrin 2.		Missing (in BMD).		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)				CAGCAGTTGCGTGATCTCCAC	0.348												
CXorf22	170063	broad.mit.edu	37	X	35969405	35969405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:35969405G>A	uc004ddj.2	+	5	873	c.814G>A	c.(814-816)GTA>ATA	p.V272I	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	272										large_intestine(1)|lung(1)|ovary(1)	3						ACATGCACGTGTATACAATAA	0.413												
FAM47C	442444	broad.mit.edu	37	X	37027011	37027011	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37027011G>A	uc004ddl.1	+	1	542	c.528G>A	c.(526-528)ACG>ACA	p.T176T		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	176										ovary(3)	3						ACGAACCCACGGAGCCTGGTA	0.612												
FAM47C	442444	broad.mit.edu	37	X	37027801	37027801	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37027801C>T	uc004ddl.1	+	1	1332	c.1318C>T	c.(1318-1320)CCG>TCG	p.P440S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	440										ovary(3)	3						TCATCTCCGCCCGGAACCTCC	0.607												
CXorf27	25763	broad.mit.edu	37	X	37850373	37850373	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:37850373A>G	uc004ddt.3	+	1	304	c.281A>G	c.(280-282)GAG>GGG	p.E94G		NM_012274	NP_036406	O75409	HYPM_HUMAN	Huntingtin interacting protein M	94							DNA binding			central_nervous_system(1)	1						AACAACCGTGAGCCCCACAGC	0.522												
OTC	5009	broad.mit.edu	37	X	38268015	38268015	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:38268015T>C	uc004def.3	+	7	898	c.684T>C	c.(682-684)AGT>AGC	p.S228S		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	228					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CGGATGCTAGTGTAACCAAGT	0.323												
BCOR	54880	broad.mit.edu	37	X	39932568	39932568	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39932568T>C	uc004den.3	-	4	2323	c.2031A>G	c.(2029-2031)GGA>GGG	p.G677G	BCOR_uc004dep.3_Silent_p.G677G|BCOR_uc004deo.3_Silent_p.G677G|BCOR_uc004dem.3_Silent_p.G677G|BCOR_uc004deq.3_Silent_p.G677G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	677	Pro-rich.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GGTAGACAGGTCCTTTGCCAT	0.587												
BCOR	54880	broad.mit.edu	37	X	39934153	39934153	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39934153T>C	uc004den.3	-	4	738	c.446A>G	c.(445-447)TAC>TGC	p.Y149C	BCOR_uc004dep.3_Missense_Mutation_p.Y149C|BCOR_uc004deo.3_Missense_Mutation_p.Y149C|BCOR_uc004dem.3_Missense_Mutation_p.Y149C|BCOR_uc004deq.3_Missense_Mutation_p.Y149C	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	149					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						CGGTGTTTTGTATATAGCACT	0.507												
ATP6AP2	10159	broad.mit.edu	37	X	40456500	40456500	+	Splice_Site	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:40456500G>T	uc004det.2	+	4	403	c.301_splice	c.e4-1	p.A101_splice	ATP6AP2_uc010nhc.2_Splice_Site|ATP6AP2_uc011mkl.1_Splice_Site_p.A25_splice|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory						angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						TTAAATTTCAGGCAGTTCCTT	0.363												
USP9X	8239	broad.mit.edu	37	X	41000617	41000617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41000617T>C	uc004dfb.2	+	9	1727	c.1094T>C	c.(1093-1095)GTA>GCA	p.V365A	USP9X_uc004dfc.2_Missense_Mutation_p.V365A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	365					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						ATATCTAGTGTATCATACTAT	0.358												
USP9X	8239	broad.mit.edu	37	X	41064672	41064672	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41064672T>C	uc004dfb.2	+	32	5574	c.4941T>C	c.(4939-4941)CTT>CTC	p.L1647L	USP9X_uc004dfc.2_Silent_p.L1647L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1647					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						TAAGACACCTTCAGGTCATCT	0.383												
DDX3X	1654	broad.mit.edu	37	X	41201791	41201791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:41201791C>T	uc004dfe.2	+	5	1183	c.328C>T	c.(328-330)CGT>TGT	p.R110C	DDX3X_uc010nhf.1_Missense_Mutation_p.R94C|DDX3X_uc004dff.2_Missense_Mutation_p.R110C|DDX3X_uc011mkq.1_Missense_Mutation_p.R94C|DDX3X_uc011mkr.1_Missense_Mutation_p.R110C|DDX3X_uc011mks.1_Missense_Mutation_p.R110C|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	110					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						CATTGGCAGCCGTGGTGACAG	0.433										HNSCC(61;0.18)		
ELK1	2002	broad.mit.edu	37	X	47497513	47497513	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47497513G>A	uc004dik.3	-	5	1045	c.723C>T	c.(721-723)GGC>GGT	p.G241G	ELK1_uc010nhv.2_Silent_p.G241G|ELK1_uc010nhw.2_Silent_p.G131G|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	241					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						GCAAAGCCCGGCCCAAACCCG	0.592												
ELK1	2002	broad.mit.edu	37	X	47497563	47497563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47497563C>T	uc004dik.3	-	5	995	c.673G>A	c.(673-675)GAG>AAG	p.E225K	ELK1_uc010nhv.2_Missense_Mutation_p.E225K|ELK1_uc010nhw.2_Missense_Mutation_p.E115K|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	225					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						TTTGGGGCCTCGGGCGGGGTC	0.572												
ZNF81	347344	broad.mit.edu	37	X	47774714	47774714	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:47774714T>C	uc010nhy.1	+	6	1037	c.669T>C	c.(667-669)CAT>CAC	p.H223H		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	223						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				CTATTGGGCATGGTCAAGTTT	0.358												
SUV39H1	6839	broad.mit.edu	37	X	48558747	48558747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48558747G>A	uc004dkn.2	+	3	476	c.431G>A	c.(430-432)CGC>CAC	p.R144H	SUV39H1_uc011mmf.1_Missense_Mutation_p.R155H|SUV39H1_uc011mmg.1_Intron	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	144					cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0						CATCTGGGACGCATCACTGTA	0.617												
GATA1	2623	broad.mit.edu	37	X	48649665	48649665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48649665C>T	uc004dkq.3	+	2	240	c.149C>T	c.(148-150)CCG>CTG	p.P50L		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	50					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1fs(7)|p.P50fs*87(3)|p.D42_D74>(3)|p.P38fs*14(2)|p.T48fs*11(2)|p.E39fs*83(2)|p.S51fs*17(1)|p.S47fs*9(1)|p.P50fs*94(1)|p.A45fs*15(1)|p.A45fs*85(1)|p.P50fs*6(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						TCCACTGCCCCGAGCACAGCC	0.602			Mis|F		megakaryoblastic leukemia of Downs Syndrome							
HDAC6	10013	broad.mit.edu	37	X	48673824	48673824	+	Missense_Mutation	SNP	G	G	A	rs147989097		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48673824G>A	uc011mmi.1	+	15	1278	c.1183G>A	c.(1183-1185)GTC>ATC	p.V395I	HDAC6_uc004dks.1_Missense_Mutation_p.V395I|HDAC6_uc010nig.1_Missense_Mutation_p.V243I|HDAC6_uc004dkt.1_Missense_Mutation_p.V395I|HDAC6_uc011mmk.1_Missense_Mutation_p.V376I|HDAC6_uc004dkv.1_Missense_Mutation_p.V43I|HDAC6_uc004dkw.1_Missense_Mutation_p.V43I	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	395	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GGCTGAAGGCGTCAGTGCTTC	0.607												
CCDC22	28952	broad.mit.edu	37	X	49093645	49093645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:49093645C>T	uc004dnd.1	+	2	299	c.143C>T	c.(142-144)GCG>GTG	p.A48V	CCDC22_uc011mna.1_Missense_Mutation_p.A48V|CCDC22_uc004dnc.1_RNA	NM_014008	NP_054727	O60826	CCD22_HUMAN	coiled-coil domain containing 22	48										central_nervous_system(1)	1						ATCAACCCTGCGGTGGGCTCT	0.637												
AKAP4	8852	broad.mit.edu	37	X	49958505	49958505	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:49958505G>A	uc004dow.1	-	5	983	c.859C>T	c.(859-861)CGT>TGT	p.R287C	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.R109C|AKAP4_uc004dou.1_Missense_Mutation_p.R278C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	287					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CCAGTGCCACGCATTTCTGCA	0.493												
GPR173	54328	broad.mit.edu	37	X	53106197	53106197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53106197G>A	uc004dru.2	+	2	652	c.394G>A	c.(394-396)GCC>ACC	p.A132T		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	132	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CCGCTTCTACGCCAAGCGCAT	0.597												
KDM5C	8242	broad.mit.edu	37	X	53227772	53227772	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53227772A>G	uc004drz.2	-	17	2949	c.2416T>C	c.(2416-2418)TTT>CTT	p.F806L	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.F739L|KDM5C_uc004dsa.2_Missense_Mutation_p.F805L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	806					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTATTAGGAAACCTCCGCTCA	0.547			N|F|S		clear cell renal carcinoma							
HUWE1	10075	broad.mit.edu	37	X	53630414	53630414	+	Silent	SNP	G	G	A	rs144396302	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:53630414G>A	uc004dsp.2	-	27	3193	c.2791C>T	c.(2791-2793)CTG>TTG	p.L931L		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	931					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						AAAACACTCAGACCCAATTGA	0.458												
WNK3	65267	broad.mit.edu	37	X	54224914	54224914	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54224914C>T	uc004dtd.1	-	23	5514	c.5075G>A	c.(5074-5076)GGG>GAG	p.G1692E	WNK3_uc004dtc.1_Missense_Mutation_p.G1749E|uc004dtb.1_5'Flank	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1692					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TACTGGATACCCCGCCCCCGC	0.498												
WNK3	65267	broad.mit.edu	37	X	54263437	54263437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54263437C>T	uc004dtd.1	-	20	4860	c.4421G>A	c.(4420-4422)AGC>AAC	p.S1474N	WNK3_uc004dtc.1_Missense_Mutation_p.S1521N	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1474					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ATCATCACTGCTCATTGGGGA	0.423												
WNK3	65267	broad.mit.edu	37	X	54319444	54319444	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:54319444C>T	uc004dtd.1	-	10	2353	c.1914G>A	c.(1912-1914)CAG>CAA	p.Q638Q	WNK3_uc004dtc.1_Silent_p.Q638Q	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	638					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						AAATCTGCGGCTGAGTCAGCT	0.378												
APEX2	27301	broad.mit.edu	37	X	55029534	55029534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:55029534G>A	uc004dtz.2	+	4	638	c.562G>A	c.(562-564)GCA>ACA	p.A188T	APEX2_uc011mom.1_Missense_Mutation_p.A17T	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	188					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						CCTCCTGGCGGCAGGCAGGTA	0.582								Other_BER_factors				
USP51	158880	broad.mit.edu	37	X	55514918	55514918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:55514918C>T	uc004dun.1	-	2	534	c.455G>A	c.(454-456)CGC>CAC	p.R152H	USP51_uc011moo.1_Intron	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	152					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCGGGATCTGCGCCGGGATCC	0.473												
FAAH2	158584	broad.mit.edu	37	X	57337164	57337164	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:57337164T>C	uc004dvc.2	+	3	561	c.412_splice	c.e3+2	p.G138_splice		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						AGCTACAAGGTACTATTCTTT	0.373										HNSCC(52;0.14)		
SPIN4	139886	broad.mit.edu	37	X	62570001	62570001	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:62570001T>G	uc004dvf.2	-	1	1218	c.698A>C	c.(697-699)AAG>ACG	p.K233T		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	233					gamete generation					ovary(1)|lung(1)	2						ATCATCAAACTTAATGAAGTA	0.398												
HEPH	9843	broad.mit.edu	37	X	65415012	65415012	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:65415012G>T	uc011moz.1	+	9	1511	c.1451G>T	c.(1450-1452)AGC>ATC	p.S484I	HEPH_uc004dwn.2_Missense_Mutation_p.S484I|HEPH_uc004dwo.2_Missense_Mutation_p.S214I|HEPH_uc010nkr.2_Missense_Mutation_p.S484I|HEPH_uc011mpa.1_Missense_Mutation_p.S484I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	481	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CAGCCATTCAGCATGCAGCCC	0.522												
OPHN1	4983	broad.mit.edu	37	X	67333078	67333078	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:67333078A>T	uc004dww.3	-	17	1659	c.1365T>A	c.(1363-1365)AAT>AAA	p.N455K	OPHN1_uc011mpg.1_Missense_Mutation_p.N455K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	455	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						GTTCAGAAAGATTCCTGAAAT	0.413												
KIF4A	24137	broad.mit.edu	37	X	69521784	69521784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:69521784C>T	uc004dyg.2	+	6	678	c.551C>T	c.(550-552)GCC>GTC	p.A184V	KIF4A_uc010nkw.2_Missense_Mutation_p.A184V|KIF4A_uc004dyf.1_Missense_Mutation_p.A184V	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	184	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						GTTTTGGTTGCCTTGGATACT	0.438												
CITED1	4435	broad.mit.edu	37	X	71522015	71522015	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:71522015T>C	uc011mqd.1	-	3	295	c.140A>G	c.(139-141)TAC>TGC	p.Y47C	CITED1_uc011mqc.1_Missense_Mutation_p.Y73C|CITED1_uc004eas.2_Missense_Mutation_p.Y47C|CITED1_uc004eat.2_Missense_Mutation_p.Y47C	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	47					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding				0	Renal(35;0.156)					TACCCCAGGGTAGTGCAGAAT	0.552												
KIAA2022	340533	broad.mit.edu	37	X	73961874	73961874	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73961874G>T	uc004eby.2	-	3	3135	c.2518C>A	c.(2518-2520)CAA>AAA	p.Q840K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	840					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						CCTTCATTTTGCTCTGGAGAA	0.473												
KIAA2022	340533	broad.mit.edu	37	X	73964061	73964061	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73964061T>C	uc004eby.2	-	3	948	c.331A>G	c.(331-333)ACA>GCA	p.T111A		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	111					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AGTGACCATGTGTTCAGGCCT	0.512												
ABCB7	22	broad.mit.edu	37	X	74318830	74318830	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:74318830G>A	uc004eca.2	-	4	425	c.400C>T	c.(400-402)CCA>TCA	p.P134S	ABCB7_uc004ebz.2_Missense_Mutation_p.P135S|ABCB7_uc011mqn.1_Missense_Mutation_p.P108S|ABCB7_uc010nls.2_Intron|ABCB7_uc010nlt.2_Intron	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	134					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CGTAGATCTGGCCTGTCTTTG	0.378												
ATRX	546	broad.mit.edu	37	X	76875932	76875932	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:76875932T>C	uc004ecp.3	-	20	5435	c.5203A>G	c.(5203-5205)ATG>GTG	p.M1735V	ATRX_uc004ecq.3_Missense_Mutation_p.M1697V|ATRX_uc004eco.3_Missense_Mutation_p.M1520V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1735	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATAGAATTCATAGCTTTAGAA	0.318			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
LPAR4	2846	broad.mit.edu	37	X	78010974	78010974	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:78010974A>G	uc010nme.2	+	2	1013	c.608A>G	c.(607-609)AAG>AGG	p.K203R		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	203	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						TATTTATCCAAGATCACAATA	0.408												
SATL1	340562	broad.mit.edu	37	X	84363505	84363505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:84363505C>T	uc011mqx.1	-	1	470	c.470G>A	c.(469-471)GGC>GAC	p.G157D	SATL1_uc004een.2_Missense_Mutation_p.G157D	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	213	Gln-rich.						N-acetyltransferase activity			breast(2)	2						TTGGCTGGTGCCTACTTGTCT	0.522											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHM	1121	broad.mit.edu	37	X	85218946	85218946	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:85218946C>A	uc004eet.2	-	5	456	c.426G>T	c.(424-426)GAG>GAT	p.E142D	CHM_uc011mqz.1_Translation_Start_Site	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	142					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				ATGACTCATCCTCCGTAGGCA	0.468												
DIAPH2	1730	broad.mit.edu	37	X	96213149	96213149	+	Splice_Site	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:96213149T>C	uc004efu.3	+	16	2331	c.1935_splice	c.e16+2	p.K645_splice	DIAPH2_uc004eft.3_Splice_Site_p.K645_splice	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156						cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TGGTCAAAGGTAATACTAAAA	0.348												
DRP2	1821	broad.mit.edu	37	X	100515565	100515565	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100515565T>C	uc004egz.2	+	24	3198	c.2829T>C	c.(2827-2829)AGT>AGC	p.S943S	DRP2_uc011mrh.1_Silent_p.S865S	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	943					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CCTTCCCCAGTGTGCGAAGTT	0.517												
RPL36A	6173	broad.mit.edu	37	X	100646445	100646445	+	Splice_Site	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100646445A>G	uc004ehk.2	+	2	88	c.4_splice	c.e2-2	p.V2_splice	BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Splice_Site_p.V2_splice	NM_021029	NP_066357	P83881	RL36A_HUMAN	ribosomal protein L36a						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome				0						TTTCTTTACTAGGTTAACGTC	0.483												
HNRNPH2	3188	broad.mit.edu	37	X	100667240	100667240	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:100667240T>C	uc004ehm.2	+	2	434	c.264T>C	c.(262-264)TCT>TCC	p.S88S	HNRNPH2_uc004ehn.2_Silent_p.S88S	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	88	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						TATTCAAGTCTAACAGTGTTG	0.448												
GPRASP2	114928	broad.mit.edu	37	X	101969872	101969872	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:101969872G>A	uc004ejk.2	+	4	1409	c.75G>A	c.(73-75)GGG>GGA	p.G25G	GPRASP2_uc004ejl.2_Silent_p.G25G|GPRASP2_uc004ejm.2_Silent_p.G25G|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	25						cytoplasm	protein binding			ovary(1)	1						TTATCGCTGGGCCTGAGAGAG	0.483												
GPRASP2	114928	broad.mit.edu	37	X	101970123	101970123	+	Missense_Mutation	SNP	G	G	A	rs139789934	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:101970123G>A	uc004ejk.2	+	4	1660	c.326G>A	c.(325-327)CGT>CAT	p.R109H	GPRASP2_uc004ejl.2_Missense_Mutation_p.R109H|GPRASP2_uc004ejm.2_Missense_Mutation_p.R109H|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	109						cytoplasm	protein binding			ovary(1)	1						GGTGGCGCTCGTTCTAAAACT	0.572												
CXorf57	55086	broad.mit.edu	37	X	105883944	105883944	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:105883944G>A	uc004emi.3	+	10	2048	c.1897G>A	c.(1897-1899)GCT>ACT	p.A633T	CXorf57_uc004emj.3_Missense_Mutation_p.A536T	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	633										ovary(1)|lung(1)|breast(1)	3						AGGCCCACACGCTAATCCGTA	0.323												
RBM41	55285	broad.mit.edu	37	X	106312575	106312575	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:106312575A>G	uc004emz.2	-	6	1016	c.985T>C	c.(985-987)TTC>CTC	p.F329L	RBM41_uc004emy.1_Missense_Mutation_p.F329L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	329	RRM.						nucleotide binding|RNA binding			ovary(1)	1						AACCGAGCGAACAATGACACA	0.423												
TSC22D3	1831	broad.mit.edu	37	X	106957919	106957919	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:106957919G>T	uc004eng.2	-	3	485	c.235C>A	c.(235-237)CAG>AAG	p.Q79K	TSC22D3_uc004enf.2_Missense_Mutation_p.Q22K|TSC22D3_uc004enh.2_Missense_Mutation_p.Q145K|TSC22D3_uc004eni.2_Missense_Mutation_p.Q145K|TSC22D3_uc004enj.2_Missense_Mutation_p.Q145K	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	79	Leucine-zipper.						sequence-specific DNA binding transcription factor activity				0						TCTCGGATCTGCTCCTTCAGG	0.522												
TSC22D3	1831	broad.mit.edu	37	X	107018394	107018394	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107018394T>C	uc004enh.2	-	1	624	c.256A>G	c.(256-258)AAC>GAC	p.N86D	TSC22D3_uc004eni.2_Missense_Mutation_p.N86D|TSC22D3_uc004enj.2_Missense_Mutation_p.N86D	NM_198057	NP_932174	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 1	Error:Variant_position_missing_in_Q99576_after_alignment							sequence-specific DNA binding transcription factor activity				0						ATGCCCTCGTTGATCAGGTAG	0.577												
MID2	11043	broad.mit.edu	37	X	107148791	107148791	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107148791T>C	uc004enl.2	+	5	1581	c.1008T>C	c.(1006-1008)GCT>GCC	p.A336A	MID2_uc004enk.2_Silent_p.A336A	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	336						centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TCAACCAAGCTGAGCATATCC	0.423												
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107225187G>A	uc004enn.1	-	2	264	c.171C>T	c.(169-171)AGC>AGT	p.S57S		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57										ovary(1)	1						TGGGCACCTCGCTGTCCTCCA	0.602												
COL4A5	1287	broad.mit.edu	37	X	107930771	107930771	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107930771C>A	uc004enz.1	+	48	4577	c.4375C>A	c.(4375-4377)CCT>ACT	p.P1459T	COL4A5_uc011mso.1_Missense_Mutation_p.P1456T|COL4A5_uc011msp.1_Missense_Mutation_p.P135T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1453	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCCAGGTCCCCCTGGAACCTC	0.502									Alport_syndrome_with_Diffuse_Leiomyomatosis			
IRS4	8471	broad.mit.edu	37	X	107977646	107977646	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107977646A>G	uc004eoc.2	-	1	1962	c.1929T>C	c.(1927-1929)ACT>ACC	p.T643T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	643						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTTTTCCACCAGTTCCTCCAG	0.468												
IRS4	8471	broad.mit.edu	37	X	107979483	107979483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107979483G>A	uc004eoc.2	-	1	125	c.92C>T	c.(91-93)ACC>ATC	p.T31I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	31						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						AAGCGGGGTGGTCACCACTGC	0.637												
TRPC5	7224	broad.mit.edu	37	X	111095589	111095589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111095589C>T	uc004epl.1	-	5	2233	c.1314G>A	c.(1312-1314)ATG>ATA	p.M438I	TRPC5_uc004epm.1_Missense_Mutation_p.M438I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	438	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TTGCAAAATCCATCAGGTTCC	0.423												
TRPC5	7224	broad.mit.edu	37	X	111155755	111155755	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111155755G>A	uc004epl.1	-	3	1583	c.664C>T	c.(664-666)CGT>TGT	p.R222C	TRPC5_uc004epm.1_Missense_Mutation_p.R222C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	222	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						CAGCCCAGACGGAAGGCAGTT	0.557												
LHFPL1	340596	broad.mit.edu	37	X	111914429	111914429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:111914429C>T	uc004epq.2	-	2	523	c.190G>A	c.(190-192)GTG>ATG	p.V64M	LHFPL1_uc004epp.2_Missense_Mutation_p.V87M|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.V64M	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	64						integral to membrane					0						CATTCTTCCACCATGATCAGA	0.577												
AMOT	154796	broad.mit.edu	37	X	112033828	112033828	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:112033828A>G	uc004epr.2	-	7	2109	c.2109T>C	c.(2107-2109)GCT>GCC	p.A703A	AMOT_uc004eps.2_Silent_p.A294A	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	703					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						ACCTCTGAGCAGCCACAGTTG	0.428												
KLHL13	90293	broad.mit.edu	37	X	117053538	117053538	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117053538A>G	uc004eql.2	-	4	578	c.516T>C	c.(514-516)AGT>AGC	p.S172S	KLHL13_uc004eqk.2_Silent_p.S121S|KLHL13_uc011mtn.1_Silent_p.S12S|KLHL13_uc011mto.1_Silent_p.S166S|KLHL13_uc011mtp.1_Silent_p.S174S|KLHL13_uc004eqm.2_Silent_p.S121S|KLHL13_uc011mtq.1_Silent_p.S156S	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	172					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						TCTGTAGGAAACTGGCAGCTT	0.383												
WDR44	54521	broad.mit.edu	37	X	117576542	117576542	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117576542A>G	uc004eqn.2	+	17	2708	c.2283A>G	c.(2281-2283)TCA>TCG	p.S761S	WDR44_uc004eqo.2_Silent_p.S761S|WDR44_uc011mtr.1_Silent_p.S672S|WDR44_uc010nqi.2_Silent_p.S471S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	761	WD 5.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TGGTAACCTCAAATGACTCCA	0.343												
DOCK11	139818	broad.mit.edu	37	X	117677508	117677508	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:117677508T>C	uc004eqp.2	+	4	407	c.344T>C	c.(343-345)GTA>GCA	p.V115A		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	115	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			ovary(3)	3						TGGCACGTGGTAAACTACAAG	0.338												
KIAA1210	57481	broad.mit.edu	37	X	118215323	118215323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118215323G>A	uc004era.3	-	14	5099	c.5099C>T	c.(5098-5100)GCA>GTA	p.A1700V		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1700										ovary(4)|skin(1)	5						GTGGCTCCATGCTTTGGCTTT	0.388												
CXorf56	63932	broad.mit.edu	37	X	118694255	118694255	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118694255T>C	uc004erk.1	-	2	264	c.218A>G	c.(217-219)GAT>GGT	p.D73G	CXorf56_uc004erj.1_Missense_Mutation_p.D24G|CXorf56_uc011mtu.1_Missense_Mutation_p.D73G	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	73							protein binding				0						AGTCTCCTCATCTTCTGTGTT	0.453												
UPF3B	65109	broad.mit.edu	37	X	118972430	118972430	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:118972430T>C	uc004erz.1	-	9	984	c.907A>G	c.(907-909)AAA>GAA	p.K303E	UPF3B_uc004esa.1_Missense_Mutation_p.K290E	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	303	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TTGTCCAATTTCTTGGCTTTT	0.368												
ZBTB33	10009	broad.mit.edu	37	X	119388375	119388375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119388375G>T	uc004esn.1	+	2	1333	c.1105G>T	c.(1105-1107)GGA>TGA	p.G369*	ZBTB33_uc010nqm.1_Nonsense_Mutation_p.G369*	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	369					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CAGTTTTGATGGATCATTAAT	0.378												
CUL4B	8450	broad.mit.edu	37	X	119708425	119708425	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119708425A>G	uc004esw.2	-	2	485	c.48T>C	c.(46-48)GCT>GCC	p.A16A		NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	16	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						TAGAGGTAGTAGCCTCATCAT	0.343												
MCTS1	28985	broad.mit.edu	37	X	119742205	119742205	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:119742205A>G	uc004esx.2	+	4	736	c.388A>G	c.(388-390)ACC>GCC	p.T130A	MCTS1_uc011mub.1_Missense_Mutation_p.T131A	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1 isoform 1	130	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding				0						TGCAGTAGATACCATTGTTGT	0.413												
STAG2	10735	broad.mit.edu	37	X	123195082	123195082	+	Silent	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123195082G>A	uc004etz.3	+	15	1764	c.1425G>A	c.(1423-1425)GAG>GAA	p.E475E	STAG2_uc004eua.2_Silent_p.E475E|STAG2_uc004eub.2_Silent_p.E475E|STAG2_uc004euc.2_Silent_p.E475E|STAG2_uc004eud.2_Silent_p.E475E|STAG2_uc004eue.2_Silent_p.E475E	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	475					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AGTTACATGAGCATGCAGCAT	0.383												
ODZ1	10178	broad.mit.edu	37	X	123518480	123518480	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123518480T>C	uc004euj.2	-	29	6344	c.6280A>G	c.(6280-6282)ACA>GCA	p.T2094A	ODZ1_uc011muj.1_Missense_Mutation_p.T2100A|ODZ1_uc010nqy.2_Missense_Mutation_p.T2101A	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2094	YD 15.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTCATCACTGTAGTAGTTATG	0.368												
ODZ1	10178	broad.mit.edu	37	X	123526044	123526044	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:123526044T>C	uc004euj.2	-	27	5589	c.5525A>G	c.(5524-5526)AAC>AGC	p.N1842S	ODZ1_uc011muj.1_Missense_Mutation_p.N1848S|ODZ1_uc010nqy.2_Missense_Mutation_p.N1849S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1842	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						ATATGTGATGTTCACTTCATT	0.393												
BCORL1	63035	broad.mit.edu	37	X	129147330	129147330	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129147330T>C	uc004evb.1	+	4	696	c.582T>C	c.(580-582)ACT>ACC	p.T194T	BCORL1_uc010nrd.1_Silent_p.T96T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						TGGTTACCACTAACTTCAGTC	0.577												
BCORL1	63035	broad.mit.edu	37	X	129159178	129159178	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129159178T>C	uc004evb.1	+	7	4016	c.3902T>C	c.(3901-3903)ATG>ACG	p.M1301T	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.M63T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1301					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GCCCGAGAAATGCCCTGGAGG	0.522												
RAB33A	9363	broad.mit.edu	37	X	129318513	129318513	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129318513T>C	uc004evl.2	+	2	777	c.513T>C	c.(511-513)GAT>GAC	p.D171D	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	171					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						AATTTGCTGATGCCCACAACA	0.532												
SLC25A14	9016	broad.mit.edu	37	X	129505599	129505599	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:129505599T>C	uc004evn.1	+	10	1130	c.917T>C	c.(916-918)CTT>CCT	p.L306P	SLC25A14_uc004evo.1_Missense_Mutation_p.L127P|SLC25A14_uc004evp.1_Missense_Mutation_p.L306P|SLC25A14_uc004evq.1_Missense_Mutation_p.L303P|SLC25A14_uc004evr.1_Missense_Mutation_p.L334P	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	306	Helical; Name=6; (Potential).|Solcar 3.				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TGGCTTCGGCTTGGACCCTGG	0.398												
FAM122C	159091	broad.mit.edu	37	X	133988192	133988192	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:133988192G>A	uc004exz.1	+	7	919	c.514G>A	c.(514-516)GCA>ACA	p.A172T	FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_3'UTR	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN	hypothetical protein LOC159091	172											0	Acute lymphoblastic leukemia(192;0.000127)					GCTGAAATCGGCACTGTCACA	0.408												
ZNF75D	7626	broad.mit.edu	37	X	134421382	134421382	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134421382T>A	uc004eyp.2	-	7	3875	c.1220A>T	c.(1219-1221)GAT>GTT	p.D407V	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.D186V|ZNF75D_uc004eyo.2_Missense_Mutation_p.D312V	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	407	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTTATTAAGATCTGAACTCCA	0.378												
DDX26B	203522	broad.mit.edu	37	X	134711258	134711258	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134711258T>C	uc004eyw.3	+	14	2277	c.1914T>C	c.(1912-1914)CCT>CCC	p.P638P	DDX26B_uc004eyx.3_Silent_p.P239P	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	638											0	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACCACCTACTGTAACTA	0.488												
SAGE1	55511	broad.mit.edu	37	X	134993422	134993422	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:134993422T>C	uc004ezh.2	+	17	2244	c.2077T>C	c.(2077-2079)TCA>CCA	p.S693P	SAGE1_uc010nry.1_Missense_Mutation_p.S662P|SAGE1_uc011mvv.1_Missense_Mutation_p.S317P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	693										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TAACTCCTTGTCAACGGTTCC	0.463												
MAP7D3	79649	broad.mit.edu	37	X	135308143	135308143	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135308143C>T	uc004ezt.2	-	13	2155	c.2064G>A	c.(2062-2064)GAG>GAA	p.E688E	MAP7D3_uc004ezs.2_Silent_p.E652E|MAP7D3_uc011mwc.1_Silent_p.E670E|MAP7D3_uc010nsa.1_Silent_p.E646E	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	688						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGTCAGCTTCCTCTTGAGCTT	0.378												
GPR112	139378	broad.mit.edu	37	X	135494507	135494507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135494507C>T	uc004ezu.1	+	24	9310	c.9019C>T	c.(9019-9021)CGA>TGA	p.R3007*	GPR112_uc010nsb.1_Nonsense_Mutation_p.R2802*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	3007	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TGGGTGGTTGCGATTGGATAA	0.398												
HTATSF1	27336	broad.mit.edu	37	X	135582956	135582956	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135582956C>T	uc004ezw.2	+	5	971	c.549C>T	c.(547-549)GAC>GAT	p.D183D	HTATSF1_uc004ezx.2_Silent_p.D183D	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	183	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTAAAGGAGACGGTCTTTGCT	0.318												
ARHGEF6	9459	broad.mit.edu	37	X	135764958	135764958	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135764958T>G	uc004fab.2	-	13	1900	c.1438A>C	c.(1438-1440)ATG>CTG	p.M480L	ARHGEF6_uc011mwd.1_Missense_Mutation_p.M353L|ARHGEF6_uc011mwe.1_Missense_Mutation_p.M326L	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	480	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGATAACATTATCAGGACA	0.373												
ARHGEF6	9459	broad.mit.edu	37	X	135790867	135790867	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135790867T>C	uc004fab.2	-	8	1352	c.890A>G	c.(889-891)CAG>CGG	p.Q297R	ARHGEF6_uc011mwd.1_Missense_Mutation_p.Q170R|ARHGEF6_uc011mwe.1_Missense_Mutation_p.Q143R	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	297	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGAGTGTCTGTTGAAATGT	0.373												
ZIC3	7547	broad.mit.edu	37	X	136652218	136652218	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:136652218T>C	uc004fak.2	+	3	1898	c.1393T>C	c.(1393-1395)TGG>CGG	p.W465R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	465					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTTTAACGAATGGTACGTCTG	0.388												
FGF13	2258	broad.mit.edu	37	X	138286367	138286367	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:138286367C>T	uc004faq.2	-	1	79	c.-97G>A	c.(-99--95)TCGTG>TCATG		FGF13_uc004far.2_Translation_Start_Site|FGF13_uc011mwj.1_Translation_Start_Site|FGF13_uc011mwk.1_Translation_Start_Site	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3						cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTCTCGACCACGAGCTCCCCT	0.637												
PASD1	139135	broad.mit.edu	37	X	150842541	150842541	+	Silent	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:150842541A>G	uc004fev.3	+	15	2390	c.2058A>G	c.(2056-2058)CCA>CCG	p.P686P		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	686						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCCCACAGGATTACA	0.502												
DUSP9	1852	broad.mit.edu	37	X	152914972	152914972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:152914972C>T	uc004fhx.3	+	3	863	c.659C>T	c.(658-660)GCC>GTC	p.A220V	DUSP9_uc004fhy.3_Missense_Mutation_p.A220V	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	220	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGATTCCGCCAATTTGGAG	0.582												
SLC6A8	6535	broad.mit.edu	37	X	152959593	152959593	+	Silent	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:152959593T>C	uc004fib.3	+	9	1541	c.1263T>C	c.(1261-1263)GGT>GGC	p.G421G	SLC6A8_uc004fic.3_Silent_p.G411G|SLC6A8_uc011myx.1_Silent_p.G306G|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	421	Cytoplasmic (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AGTTTGTAGGTGTGGAGGGCT	0.662												
IDH3G	3421	broad.mit.edu	37	X	153052989	153052989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153052989C>T	uc004fip.2	-	8	790	c.604G>A	c.(604-606)GAG>AAG	p.E202K	IDH3G_uc004fio.2_Missense_Mutation_p.E144K|IDH3G_uc004fiq.2_Missense_Mutation_p.E202K|IDH3G_uc010num.2_Missense_Mutation_p.E144K|IDH3G_uc004fir.2_Missense_Mutation_p.E144K|IDH3G_uc004fit.1_Missense_Mutation_p.E202K|IDH3G_uc004fis.2_Missense_Mutation_p.E144K|IDH3G_uc004fiu.2_5'UTR	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	202					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGGCATACTCGGCAATGCGC	0.597												
HCFC1	3054	broad.mit.edu	37	X	153222823	153222823	+	Silent	SNP	C	C	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153222823C>T	uc004fjp.2	-	13	2823	c.2295G>A	c.(2293-2295)ACG>ACA	p.T765T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	765	Interaction with ZBTB17.				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)					TGATGGTGGTCGTGCCGGGCT	0.642												
MECP2	4204	broad.mit.edu	37	X	153296142	153296142	+	Silent	SNP	G	G	A	rs63749020		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153296142G>A	uc004fjv.2	-	4	1363	c.1137C>T	c.(1135-1137)CCC>CCT	p.P379P	MECP2_uc004fjw.2_Silent_p.P391P	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	379	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGGCACGGGGGCCTTTG	0.692												
OPN1LW	5956	broad.mit.edu	37	X	153416152	153416152	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416152A>G	uc004fjz.3	+	2	170	c.137A>G	c.(136-138)CAC>CGC	p.H46R		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	46	Extracellular.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAATTACCACATCGCTCCC	0.592												
OPN1LW	5956	broad.mit.edu	37	X	153416196	153416196	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416196A>G	uc004fjz.3	+	2	214	c.181A>G	c.(181-183)ATC>GTC	p.I61V		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	61	Helical; Name=1; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCTGGATGATCTTTGTGGT	0.577												
OPN1LW	5956	broad.mit.edu	37	X	153416331	153416331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153416331G>A	uc004fjz.3	+	2	349	c.316G>A	c.(316-318)GCC>ACC	p.A106T		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	106	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACCGTCATCGCCAGCACTAT	0.597												
RPL10	6134	broad.mit.edu	37	X	153628915	153628915	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:153628915A>G	uc004fkm.2	+	6	628	c.440A>G	c.(439-441)CAT>CGT	p.H147R	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.H147R|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.H72R	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	147					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	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)					AACAAGGAGCATGTGATTGAG	0.592												
MTCP1	4515	broad.mit.edu	37	X	154293909	154293909	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:154293909T>C	uc004fmz.2	-	3	887	c.261A>G	c.(259-261)ATA>ATG	p.I87M	MTCP1NB_uc004fmy.2_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	87					cell proliferation					lung(1)	1	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATGATGCTGTATCTGCCACA	0.448			T	TRA@	T cell prolymphocytic leukemia							
KRT2	3849	broad.mit.edu	37	12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-	rs140362470		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53044122_53044124delCTT	uc001sat.2	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2						keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTGCCACCTACTTCTTCTTATAA	0.458												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						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)		GTACCAAGATAAAAAAAGTTT	0.294												
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
CCDC88A	55704	broad.mit.edu	37	2	55570930	55570930	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55570929_55570929CT>C	uc002ryv.2	-	12	2031	c.1189_splice	c.e12-1	p.E397_splice	CCDC88A_uc010ypa.1_Splice_Site_p.E397_splice|CCDC88A_uc010yoz.1_Splice_Site_p.E397_splice|CCDC88A_uc010ypb.1_Splice_Site_p.E299_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	397					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATCTCGTTCCTTTTTTATTG	0.303												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
SCN10A	6336	broad.mit.edu	37	3	38750970	38750970	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38750969_38750969CT>C	uc003ciq.3	-	24	4281	c.4281_splice	c.e24+1	p.K1427_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1427					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCACTTATCTTTTTTTTCT	0.413												
TBCCD1	55171	broad.mit.edu	37	3	186274567	186274567	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186274566_186274566TA>T	uc003fqg.3	-	4	622	c.493_splice	c.e4-1	p.N165_splice	TBCCD1_uc011bry.2_Splice_Site_p.N165_splice|TBCCD1_uc003fqh.3_Splice_Site_p.N69_splice	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	165					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATTCCAGTTCTAAAAAAAAGT	0.328												
FYTTD1	84248	broad.mit.edu	37	3	197505338	197505338	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:197505337_197505337TA>T	uc003fyi.2	+	8	1077	c.858_splice	c.e8+2	p.Q286_splice	FYTTD1_uc011bui.1_Splice_Site_p.Q260_splice|FYTTD1_uc011buj.1_Splice_Site|FYTTD1_uc011buk.1_Splice_Site_p.Q219_splice	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	286					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GGAAAACAGGTAAAAAAACGT	0.343												
GPSM3	63940	broad.mit.edu	37	6	32160026	32160027	+	Splice_Site	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32160025_32160026G>GA	uc003oay.4	-	2	445	c.43_splice	c.e2-1	p.G15_splice	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Splice_Site_p.G15_splice	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	15					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTGAGGGGGGCCCTGATGCCA	0.619												
CDK19	23097	broad.mit.edu	37	6	110953367	110953367	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110953366_110953366TA>T	uc003puh.1	-	6	588	c.515_splice	c.e6-1	p.A172_splice	CDK19_uc003pui.1_Splice_Site_p.A112_splice|CDK19_uc011eax.1_Splice_Site_p.A48_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCATGTCAGCtaaaaaaataa	0.343												
TNS3	64759	broad.mit.edu	37	7	47336681	47336682	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:47336680_47336681C>CT	uc003tnw.3	-	24	4034	c.3676_splice	c.e24+1	p.A1226_splice	TNS3_uc022acn.1_Splice_Site_p.A783_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1226	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTAACCTTACCTTTCTTGTTCA	0.460												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
TAF2	6873	broad.mit.edu	37	8	120803702	120803702	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:120803701_120803701TA>T	uc003you.3	-	11	1548	c.1278_splice	c.e11-1	p.N426_splice		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	426					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAAGCCGGACTAAAAAAAATA	0.343												
ZFAT	57623	broad.mit.edu	37	8	135612914	135612914	+	Splice_Site	DEL	A	A	-	rs35184160		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135612913_135612913TA>T	uc003yup.3	-	7	2429	c.2243_splice	c.e7-1	p.G748_splice	ZFAT_uc003yun.3_Splice_Site_p.G736_splice|ZFAT_uc003yuo.3_Splice_Site_p.G736_splice|ZFAT_uc010meh.3_Splice_Site_p.G736_splice|ZFAT_uc010mej.3_Splice_Site_p.G686_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G736_splice|ZFAT_uc003yur.3_Intron|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAAGTTTGCCTAAAAAAATAT	0.318												
GAPVD1	26130	broad.mit.edu	37	9	128116933	128116933	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:128116932_128116932GA>G	uc004bpp.3	+	23	3811	c.3651_splice	c.e23-1	p.R1217_splice	GAPVD1_uc004bpq.3_Splice_Site_p.R1190_splice|GAPVD1_uc010mwx.3_Splice_Site_p.R1208_splice|GAPVD1_uc004bpr.3_Splice_Site_p.R1169_splice|GAPVD1_uc004bps.3_Splice_Site_p.R1163_splice|GAPVD1_uc004bpt.3_Splice_Site_p.R223_splice	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1208					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTTTAGAAAAAGAGCC	0.393												
SPI1	6688	broad.mit.edu	37	11	47399861	47399862	+	Splice_Site	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47399860_47399861A>AG	uc001nfb.1	-	1	268	c.45_splice	c.e1+1	p.P15_splice	SPI1_uc001nfc.1_Splice_Site_p.P15_splice|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Splice_Site_p.P9_splice	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CGGTACTCACAGGGGGGACGAG	0.683												
RPAP3	79657	broad.mit.edu	37	12	48084302	48084302	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48084301_48084301CT>C	uc001rpr.3	-	6	783	c.667_splice	c.e6+1	p.D223_splice	RPAP3_uc010slk.2_Splice_Site_p.D64_splice|RPAP3_uc001rps.3_Splice_Site_p.D223_splice	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	223							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TAGAAAATACCTTTTTTGGCC	0.363												
DDHD1	80821	broad.mit.edu	37	14	53540568	53540568	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313												
CREBBP	1387	broad.mit.edu	37	16	3817721	3817722	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATGGCCTACTTTTTTTGCGC	0.401			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ATP6V0A1	535	broad.mit.edu	37	17	40642658	40642658	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAAATCCAGGTAAAAAAAAGC	0.388												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918126	+	Splice_Site	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47918125_47918125TG>T	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCAC	0.682												
TMPRSS6	164656	broad.mit.edu	37	22	37471323	37471323	+	Splice_Site	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37471322_37471322TG>T	uc003aqt.1	-	11	1259	c.1197_splice	c.e11-1	p.R399_splice	TMPRSS6_uc003aqs.1_Splice_Site_p.R408_splice	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	408	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCACACAGCCTGGGGGGAGTC	0.662												
SHROOM4	57477	broad.mit.edu	37	X	50345634	50345635	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:50345633_50345634C>CT	uc004dpe.2	-	7	3968	c.3942_splice	c.e7+1	p.K1314_splice	SHROOM4_uc004dpd.3_Splice_Site	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1314	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.450												
MYOM3	127294	broad.mit.edu	37	1	24397622	24397624	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:24397622_24397624delCTC	uc001bin.3	-	25	3296_3298	c.3133_3135delGAG	c.(3133-3135)GAGdel	p.E1045del	MYOM3_uc001bim.3_In_Frame_Del_p.E702del|MYOM3_uc001bio.2_In_Frame_Del_p.E1045del	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1045										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGCTGAAGATCTCCTTGTTGTTG	0.532											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ASB17	127247	broad.mit.edu	37	1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:76387916delT	uc001dhe.1	-	2	670	c.530delA	c.(529-531)AACfs	p.N177fs	ASB17_uc001dhf.1_RNA	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box-containing 17	177					intracellular signal transduction					ovary(1)	1						GTTGATAGGGTTTTTTTCTCT	0.368												
STXBP3	6814	broad.mit.edu	37	1	109342883	109342885	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:109342883_109342885delTTG	uc001dvy.2	+	17	1566_1568	c.1491_1493delTTG	c.(1489-1494)TATTGT>TAT	p.C498del	STXBP3_uc001dvz.2_RNA	NM_007269	NP_009200	O00186	STXB3_HUMAN	syntaxin binding protein 3	498					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AATGGCCATATTGTTCCCAGTGT	0.325												
HSPA6	3310	broad.mit.edu	37	1	161495044	161495044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:161495044delT	uc001gap.2	+	2	1256	c.596delT	c.(595-597)ATTfs	p.I199fs	HSPA6_uc001gaq.2_Frame_Shift_Del_p.I199fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	199					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AACGTGCTCATTTTTGACCTG	0.612												
HMCN1	83872	broad.mit.edu	37	1	186094843	186094843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186094843delA	uc001grq.1	+	82	12836	c.12607delA	c.(12607-12609)AAAfs	p.K4203fs	HMCN1_uc001grs.1_5'Flank	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4203	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AATTAACTGGAAAAAAGACAA	0.393												
KIF26B	55083	broad.mit.edu	37	1	245847605	245847605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:245847605delC	uc001ibf.1	+	11	2769	c.2329delC	c.(2329-2331)CACfs	p.H777fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.H395fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.H19fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	777					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATGATCGCGCACATCTCGGC	0.542												
DCLRE1C	64421	broad.mit.edu	37	10	14950433	14950433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:14950433delT	uc001inn.2	-	14	2138	c.2053delA	c.(2053-2055)AGAfs	p.R685fs	DCLRE1C_uc010qbx.1_Intron|DCLRE1C_uc001ink.2_Frame_Shift_Del_p.R338fs|DCLRE1C_uc001inl.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc009xji.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc001inm.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001ino.2_Frame_Shift_Del_p.R570fs|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inq.2_Frame_Shift_Del_p.R565fs|DCLRE1C_uc001inr.2_Frame_Shift_Del_p.R570fs	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	685					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						GAGCATTTTCTTTTTTTGACT	0.269								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ				
DNAJC1	64215	broad.mit.edu	37	10	22048437	22048437	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:22048437delC	uc001irc.2	-	11	1545	c.1258delG	c.(1258-1260)GTGfs	p.V420fs	DNAJC1_uc001ird.2_Frame_Shift_Del_p.V306fs	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	420	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCCGCTGCCACCCCCTCTGCG	0.642												
GDF2	2658	broad.mit.edu	37	10	48414131	48414131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:48414131delG	uc001jfa.1	-	2	900	c.737delC	c.(736-738)CCAfs	p.P246fs		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	246					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						TCTGGAACCTGGGGGGACACT	0.567												
DNA2	1763	broad.mit.edu	37	10	70192211	70192211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70192211delT	uc001jof.2	-	11	1961	c.1961delA	c.(1960-1962)AATfs	p.N654fs	DNA2_uc001jog.1_Frame_Shift_Del_p.N568fs|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	568					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TATATCACAATTTTTTTCTTC	0.338												
VPS26A	9559	broad.mit.edu	37	10	70930940	70930940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:70930940delA	uc001jpb.2	+	9	1025	c.899delA	c.(898-900)GAAfs	p.E300fs	VPS26A_uc001jpc.2_Frame_Shift_Del_p.*252fs|VPS26A_uc009xqa.2_Frame_Shift_Del_p.E293fs|VPS26A_uc001jpd.2_Frame_Shift_Del_p.E189fs	NM_004896	NP_004887	O75436	VP26A_HUMAN	vacuolar protein sorting 26 A isoform 1	300					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity				0						AAAGCTCCTGAAAAACTGAGG	0.368												
LRIT1	26103	broad.mit.edu	37	10	86001144	86001144	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	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												
B4GALNT4	338707	broad.mit.edu	37	11	380921	380921	+	Frame_Shift_Del	DEL	G	G	-	rs35951843		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:380921delG	uc001lpb.2	+	19	2975	c.2966delG	c.(2965-2967)TGGfs	p.W989fs		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	989	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		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)		CGAGACCAGTGGGGGGGTGAA	0.602												
SPI1	6688	broad.mit.edu	37	11	47399860	47399861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47399860_47399861insG	uc001nfc.1	-	1	267_268	c.44_45insC	c.(43-45)CCTfs	p.P15fs	SPI1_uc001nfb.1_Frame_Shift_Ins_p.P15fs|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Frame_Shift_Ins_p.P9fs	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		CGGTACTCACAGGGGGGACGAG	0.683												
RTN4RL2	349667	broad.mit.edu	37	11	57244233	57244233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57244233delG	uc010rjt.1	+	3	1112	c.1112delG	c.(1111-1113)TGGfs	p.W371fs		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	371					axon regeneration	anchored to plasma membrane	receptor activity				0						GACGACTACTGGGGGGGCTAC	0.756												
CCDC88B	283234	broad.mit.edu	37	11	64121543	64121543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64121543delG	uc001nzy.2	+	24	4044	c.4000delG	c.(4000-4002)GGGfs	p.G1334fs	CCDC88B_uc009ypo.1_Frame_Shift_Del_p.G1331fs|CCDC88B_uc001oaa.2_Intron|CCDC88B_uc001oab.1_Frame_Shift_Del_p.G165fs|CCDC88B_uc001oac.2_Intron	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	1334					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						gggcccccctggggggctgcg	0.507												
ME3	10873	broad.mit.edu	37	11	86157515	86157515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:86157515delA	uc001pbz.2	-	12	1649	c.1395delT	c.(1393-1395)TTTfs	p.F465fs	ME3_uc001pca.2_Frame_Shift_Del_p.F465fs|ME3_uc009yvk.2_Frame_Shift_Del_p.F465fs	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	465					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTCCACTGGCAAAAATCCCTC	0.488												
PDZD3	79849	broad.mit.edu	37	11	119058341	119058341	+	Frame_Shift_Del	DEL	G	G	-	rs142670540		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119058341delG	uc001pwb.2	+	4	1311	c.787delG	c.(787-789)GGGfs	p.G263fs	PDZD3_uc001pvy.2_Frame_Shift_Del_p.G197fs|PDZD3_uc001pvz.2_Frame_Shift_Del_p.G197fs|PDZD3_uc010rzd.1_Frame_Shift_Del_p.G184fs|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	263	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGCCCCCCGGGGCCCGGCT	0.567												
KDM5A	5927	broad.mit.edu	37	12	419071	419071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:419071delT	uc001qif.1	-	22	3639	c.3276delA	c.(3274-3276)AAAfs	p.K1092fs	KDM5A_uc001qie.1_Frame_Shift_Del_p.K1092fs|KDM5A_uc010sdn.1_Frame_Shift_Del_p.K1051fs	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1092					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						GTTCTTTTACTTTTTTCCTCC	0.418			T 	NUP98	AML							
C1RL	51279	broad.mit.edu	37	12	7249400	7249400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:7249400delG	uc001qsn.2	-	6	1068	c.1051delC	c.(1051-1053)CTGfs	p.L351fs	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	351	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						TTGGGGCCCAGGGGGATGCTG	0.617												
KIF21A	55605	broad.mit.edu	37	12	39734129	39734129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:39734129delT	uc001rly.2	-	16	2294	c.2148delA	c.(2146-2148)AAAfs	p.K716fs	KIF21A_uc001rlw.2_Frame_Shift_Del_p.K33fs|KIF21A_uc001rlx.2_Frame_Shift_Del_p.K703fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.K703fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.K703fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	716					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGACCTAACTTTTTTTGCTT	0.343												
FAM113B	91523	broad.mit.edu	37	12	47628998	47628998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:47628998delG	uc001rpn.2	+	4	883	c.152delG	c.(151-153)AGGfs	p.R51fs	FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Frame_Shift_Del_p.R51fs	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	51							hydrolase activity	p.R51R(1)		skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CTTAGAGCAAGGGGGGAGCTG	0.612												
KRT2	3849	broad.mit.edu	37	12	53044122	53044124	+	Splice_Site	DEL	CTT	CTT	-	rs140362470		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53044122_53044124delCTT	uc001sat.2	-	2	833	c.800_splice	c.e2+1	p.K267_splice		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2						keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTGCCACCTACTTCTTCTTATAA	0.458												
APOF	319	broad.mit.edu	37	12	56755285	56755285	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56755285delC	uc001sle.1	-	2	759	c.705delG	c.(703-705)GGGfs	p.G235fs		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	235					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						GACCCATAGGCCCCCCTGACA	0.522												
MBD6	114785	broad.mit.edu	37	12	57919175	57919175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:57919175delC	uc001soj.1	+	6	648	c.424delC	c.(424-426)CCCfs	p.P142fs	MBD6_uc001sok.1_Frame_Shift_Del_p.P9fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	142	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GTCCCCAGGGCCCCCCTCTGC	0.577												
HELB	92797	broad.mit.edu	37	12	66731962	66731962	+	RNA	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66731962delA	uc010ssz.1	+	13		c.3448delA			HELB_uc009zqt.1_RNA			Q8NG08	HELB_HUMAN	Homo sapiens helicase B mRNA, complete cds.						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)		GTACCAAGATAAAAAAAGTTT	0.294												
ZFC3H1	196441	broad.mit.edu	37	12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:72038781delT	uc001swo.2	-	4	1514	c.1155delA	c.(1153-1155)AAAfs	p.K385fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	385	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TTTGTTGCCATTTTTTACTGG	0.348												
C12orf63	374467	broad.mit.edu	37	12	97159024	97159024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:97159024delA	uc001tet.1	+	27	3662	c.3584delA	c.(3583-3585)CAAfs	p.Q1195fs		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1195										skin(6)|ovary(1)	7						CATATTATGCAAAAAAACTGA	0.338												
CLIP1	6249	broad.mit.edu	37	12	122812630	122812631	+	Frame_Shift_Ins	INS	-	-	T	rs145767151		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122812630_122812631insT	uc001ucg.1	-	16	3218_3219	c.3112_3113insA	c.(3112-3114)ACCfs	p.T1038fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T1027fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T992fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.T613fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1038	Potential.				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)		TTCATGCTTGGTTTTTGTCTCA	0.525												
NBEA	26960	broad.mit.edu	37	13	36125104	36125104	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:36125104delA	uc001uvb.2	+	43	6947	c.6741delA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Del_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Del_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Del_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Del_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGCAACAGTAAAAAAAGTTG	0.378												
AKAP11	11215	broad.mit.edu	37	13	42873774	42873774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:42873774delT	uc001uys.1	+	8	1067	c.892delT	c.(892-894)TTTfs	p.F298fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	298	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)		ACAGAAAACATTTTTTTCGTC	0.363												
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:78475267delA	uc001vko.2	-	4	1135	c.877delT	c.(877-879)TATfs	p.Y293fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.Y376fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	293	Helical; Name=5; (Potential).				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				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ATTAGTGTATAAAAAAATGCA	0.343												
HECTD1	25831	broad.mit.edu	37	14	31576889	31576891	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:31576889_31576891delCTT	uc001wrc.1	-	37	6989_6991	c.6500_6502delAAG	c.(6499-6504)GAAGGA>GGA	p.E2167del	HECTD1_uc001wra.1_In_Frame_Del_p.E293del|HECTD1_uc001wrb.1_In_Frame_Del_p.E293del	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2167	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAGCCAGTTCCTTCTTCTCCTAA	0.355												
GNPNAT1	64841	broad.mit.edu	37	14	53250196	53250196	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53250196delA	uc001xab.2	-	3	417	c.162delT	c.(160-162)TTTfs	p.F54fs		NM_198066	NP_932332	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	54	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity				0	Breast(41;0.176)					CCAATACCTTAAAAAAACCTA	0.348												
SPTB	6710	broad.mit.edu	37	14	65260168	65260170	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:65260168_65260170delTTC	uc001xht.2	-	13	2265_2267	c.2211_2213delGAA	c.(2209-2214)AAGAAC>AAC	p.K737del	SPTB_uc001xhr.2_In_Frame_Del_p.K737del|SPTB_uc001xhs.2_In_Frame_Del_p.K737del|SPTB_uc001xhu.2_In_Frame_Del_p.K737del	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	737	Spectrin 5.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATCCTGGAGGTTCTTCTTGCAGA	0.591												
AQR	9716	broad.mit.edu	37	15	35224524	35224524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:35224524delA	uc001ziv.2	-	11	1076	c.895delT	c.(895-897)TCCfs	p.S299fs		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	299						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCACCTGGGAAAAAAGATGG	0.398												
RPAP1	26015	broad.mit.edu	37	15	41815100	41815101	+	Frame_Shift_Ins	INS	-	-	G	rs150273751	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41815100_41815101insG	uc001zod.2	-	19	2728_2729	c.2604_2605insC	c.(2602-2607)CCCAGCfs	p.P868fs	RPAP1_uc001zoc.2_Intron	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	868_869	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACACGAGGCTGGGGGGAGCTT	0.634												
PLA2G4E	123745	broad.mit.edu	37	15	42275979	42275981	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:42275979_42275981delCTT	uc001zow.1	-	19	2491_2493	c.2491_2493delAAG	c.(2491-2493)AAGdel	p.K831del	PLA2G4E_uc010udc.1_In_Frame_Del_p.K303del|PLA2G4E_uc001zov.1_In_Frame_Del_p.K484del	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	848	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTTCAGGCGCTTCTTCTTCTCC	0.571												
SEPT12	124404	broad.mit.edu	37	16	4827851	4827851	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4827851delG	uc002cxq.2	-	10	1165	c.1024delC	c.(1024-1026)CGGfs	p.R342fs	SEPT12_uc002cxr.2_Frame_Shift_Del_p.R296fs|SEPT12_uc010bty.2_RNA	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	342					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						TTGAAGGTCCGGGGGGTGGTC	0.672												
ZFHX3	463	broad.mit.edu	37	16	72991671	72991671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:72991671delC	uc002fck.2	-	2	3047	c.2374delG	c.(2374-2376)GCCfs	p.A792fs	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	792					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCGAGGGGGCCCCGCAGGAG	0.483												
C16orf74	404550	broad.mit.edu	37	16	85743813	85743813	+	Frame_Shift_Del	DEL	G	G	-	rs112376688		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:85743813delG	uc002fjc.3	-	3	305	c.129delC	c.(127-129)CCCfs	p.P43fs		NM_206967	NP_996850	Q96GX8	CP074_HUMAN	MGC17624 protein	43											0						CCGTGGGGGTGGGGGGCGTGA	0.672												
CENPBD1	92806	broad.mit.edu	37	16	90038141	90038141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:90038141delT	uc002fpr.2	-	1	802	c.190delA	c.(190-192)ATCfs	p.I64fs	AFG3L1_uc002fps.1_5'Flank|AFG3L1_uc002fpt.1_5'Flank|AFG3L1_uc002fpu.1_5'Flank|AFG3L1_uc002fpv.1_5'Flank|AFG3L1_uc002fpw.1_5'Flank|AFG3L1_uc002fpx.1_5'Flank	NM_145039	NP_659476	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	64	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTCGCTTTGATTTTTTCTTTA	0.488												
USP6	9098	broad.mit.edu	37	17	5049390	5049391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:5049390_5049391insA	uc002gau.1	+	28	4470_4471	c.2240_2241insA	c.(2239-2241)TTAfs	p.L747fs	USP6_uc002gav.1_Frame_Shift_Ins_p.L747fs|USP6_uc010ckz.1_Frame_Shift_Ins_p.L430fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	747					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						TACACAGGTTTAAAAAAACAGC	0.351			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
PHF23	79142	broad.mit.edu	37	17	7139443	7139443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:7139443delC	uc002gfa.2	-	4	1030	c.803delG	c.(802-804)GGTfs	p.G268fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Frame_Shift_Del_p.G201fs|PHF23_uc010cma.2_Frame_Shift_Del_p.G138fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	268							zinc ion binding				0						TGGGGCTTCACCCCCTACCAC	0.507												
GALK1	2584	broad.mit.edu	37	17	73759466	73759466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73759466delC	uc010wsi.1	-	3	473	c.410delG	c.(409-411)GGTfs	p.G137fs	GALK1_uc002jpk.2_Frame_Shift_Del_p.G137fs|GALK1_uc010wsj.1_Frame_Shift_Del_p.G137fs	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	137	ATP (Potential).				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACAGGCCACCCCCCAGGGG	0.652												
TTC39C	125488	broad.mit.edu	37	18	21660762	21660762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:21660762delT	uc002kuw.2	+	5	1126	c.674delT	c.(673-675)CTTfs	p.L225fs	TTC39C_uc002kuu.2_Frame_Shift_Del_p.L164fs	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 1	225							binding			ovary(1)	1						GGATATGGCCTTTTTCACCTT	0.478												
DSG3	1830	broad.mit.edu	37	18	29044269	29044269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:29044269delA	uc002kws.2	+	9	1304	c.1195delA	c.(1195-1197)AAAfs	p.K399fs		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	399	Cadherin 4.|Extracellular (Potential).				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)			CATAAGTAGCAAAAAATTGGT	0.378												
KLHL14	57565	broad.mit.edu	37	18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-	rs147661052		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				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)				CACGGAGCCACCCCCCAGTGG	0.677												
NEDD4L	23327	broad.mit.edu	37	18	55990515	55990515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55990515delA	uc002lgy.2	+	8	736	c.462delA	c.(460-462)CCAfs	p.P154fs	NEDD4L_uc002lgz.2_Frame_Shift_Del_p.P154fs|NEDD4L_uc002lgx.2_Frame_Shift_Del_p.P154fs|NEDD4L_uc010xee.1_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.P146fs|NEDD4L_uc002lhd.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhb.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.P146fs|NEDD4L_uc002lhf.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhg.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc002lhh.2_Frame_Shift_Del_p.P33fs|NEDD4L_uc010dpm.1_Frame_Shift_Del_p.P5fs	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	154					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						CCTATATGCCAAAAAATGGAG	0.433												
SF3A2	8175	broad.mit.edu	37	19	2248140	2248140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:2248140delC	uc002lvg.2	+	9	1112	c.990delC	c.(988-990)CACfs	p.H330fs	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	330	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		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)		CTGGGGTCCACCCCCCAGCTC	0.731												
SIX5	147912	broad.mit.edu	37	19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:46269107delG	uc002pdb.2	-	3	2267	c.1872delC	c.(1870-1872)CCCfs	p.P624fs	SIX5_uc002pdc.2_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	624						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711												
GLTSCR1	29998	broad.mit.edu	37	19	48183494	48183495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:48183494_48183495insG	uc002phh.3	+	6	1261_1262	c.1067_1068insG	c.(1066-1068)GCGfs	p.A356fs	GLTSCR1_uc002phi.3_Frame_Shift_Ins_p.A114fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	356							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCAAGCCCGCGGGGGTGCTGC	0.752												
SCAF1	58506	broad.mit.edu	37	19	50155693	50155694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:50155693_50155694insG	uc002poq.2	+	7	2171_2172	c.2047_2048insG	c.(2047-2049)CGGfs	p.R683fs		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	683	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CAGCCGCCGCCGGGGGGCCGTG	0.604												
NLRP12	91662	broad.mit.edu	37	19	54310804	54310804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:54310804delC	uc002qch.3	-	4	2408	c.2188delG	c.(2188-2190)GTGfs	p.V730fs	NLRP12_uc010eqw.2_5'UTR|NLRP12_uc002qci.3_Frame_Shift_Del_p.V730fs|NLRP12_uc002qcj.3_Frame_Shift_Del_p.V731fs|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Frame_Shift_Del_p.V731fs	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	730					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGCTTCACCCCCCGGCTG	0.592												
ZNF544	27300	broad.mit.edu	37	19	58772421	58772424	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:58772421_58772424delTGTT	uc010euo.2	+	7	923_926	c.449_452delTGTT	c.(448-453)CTGTTTfs	p.L150fs	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Frame_Shift_Del_p.L122fs|ZNF544_uc010yhy.1_Frame_Shift_Del_p.L122fs|ZNF544_uc002qrt.3_Frame_Shift_Del_p.L8fs|ZNF544_uc002qru.3_Frame_Shift_Del_p.L8fs|uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	150_151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAGAGAGACTGTTTGCTCAAAGG	0.446												
SPDYA	245711	broad.mit.edu	37	2	29063182	29063182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29063182delA	uc002rmj.2	+	7	903	c.697delA	c.(697-699)AAAfs	p.K233fs	SPDYA_uc002rmi.2_Frame_Shift_Del_p.K233fs|SPDYA_uc002rmk.2_Frame_Shift_Del_p.K233fs|SPDYA_uc002rml.2_Frame_Shift_Del_p.K233fs	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	233					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					ACTCTGTGGTAAAAAAAGAAG	0.438												
AUP1	550	broad.mit.edu	37	2	74754443	74754443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:74754443delC	uc010yrx.1	-	9	1306	c.1180delG	c.(1180-1182)GCCfs	p.A394fs	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Frame_Shift_Del_p.A70fs|AUP1_uc002smf.2_Frame_Shift_Del_p.A337fs|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Frame_Shift_Del_p.A246fs|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	403	Cytoplasmic (Potential).|CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						AAAGCTACGGCCCCCTCAAGC	0.512												
LRRTM1	347730	broad.mit.edu	37	2	80529785	80529785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:80529785delG	uc002sok.1	-	2	1430	c.1160delC	c.(1159-1161)CCTfs	p.P387fs	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	387	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGAGCTGGCAGGGGGCCCCAG	0.726										HNSCC(69;0.2)		
NCAPH	23397	broad.mit.edu	37	2	97024802	97024802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:97024802delG	uc002svz.1	+	10	1312	c.1228delG	c.(1228-1230)GGGfs	p.G410fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.G386fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.G399fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.G386fs|NCAPH_uc010fhw.1_Frame_Shift_Del_p.G399fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.G274fs|NCAPH_uc002swa.1_Frame_Shift_Del_p.G5fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	410					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				GATTTCCCTTGGGGATGGAGA	0.423												
ANAPC1	64682	broad.mit.edu	37	2	112636490	112636492	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:112636490_112636492delTCA	uc002thi.2	-	3	517_519	c.270_272delTGA	c.(268-273)GATGAG>GAG	p.D90del	ANAPC1_uc002thj.2_In_Frame_Del_p.D80del	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	90					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						ATAGAGTTCCTCATCATAGTCCA	0.369												
PTPN4	5775	broad.mit.edu	37	2	120677773	120677773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:120677773delT	uc002tmf.1	+	12	1728	c.957delT	c.(955-957)AATfs	p.N319fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.N32fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	319						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTCAAAAGAATTTTTTTGCAC	0.333												
TANC1	85461	broad.mit.edu	37	2	159954333	159954334	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159954333_159954334insA	uc002uag.2	+	4	520_521	c.246_247insA	c.(244-249)AACAAAfs	p.N82fs	TANC1_uc010fol.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010zcm.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010fom.1_Frame_Shift_Ins_p.N82fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	82_83						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CAAGAGTGAACAAAAAATCCCC	0.455												
SLC4A10	57282	broad.mit.edu	37	2	162760516	162760516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:162760516delT	uc002ubx.3	+	13	1629	c.1445delT	c.(1444-1446)ATTfs	p.I482fs	SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Del_p.I452fs|SLC4A10_uc010zcs.1_Frame_Shift_Del_p.I463fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	482	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGTCTTAGGATTTTTGGGGGA	0.378												
TTN	7273	broad.mit.edu	37	2	179529600	179529600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:179529600delT	uc010zfk.1	-	11	1083	c.535delA	c.(535-537)AGAfs	p.R179fs	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	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)			GGGGGTTCTCTTTTTTTGGAA	0.378												
RBM44	375316	broad.mit.edu	37	2	238725990	238725990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:238725990delT	uc002vxi.3	+	3	563	c.431delT	c.(430-432)GTTfs	p.V144fs		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAGAGGAGGTTTTTTTTAAT	0.308												
HDAC4	9759	broad.mit.edu	37	2	240002823	240002823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:240002823delG	uc002vyk.3	-	22	3495	c.2703delC	c.(2701-2703)CCCfs	p.P901fs	HDAC4_uc010fyy.2_Frame_Shift_Del_p.P858fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	901	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTCTCCCATGGGGGGGTCCA	0.602												
HDLBP	3069	broad.mit.edu	37	2	242178074	242178075	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242178074_242178075delCT	uc002waz.2	-	20	2966_2967	c.2738_2739delAG	c.(2737-2739)GAGfs	p.E913fs	HDLBP_uc002wba.2_Frame_Shift_Del_p.E913fs|HDLBP_uc002wbb.2_Frame_Shift_Del_p.E865fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	913	KH 11.				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)		CTGCGTTCTCCTCTCTGTCTGG	0.520												
RBBP9	10741	broad.mit.edu	37	20	18476496	18476496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:18476496delT	uc002wqy.2	-	2	204	c.128delA	c.(127-129)AACfs	p.N43fs		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	43						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						GTCGGGCATGTTTTTAGCCAA	0.328												
KCNK15	60598	broad.mit.edu	37	20	43379277	43379278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43379277_43379278insC	uc002xmr.2	+	2	855_856	c.791_792insC	c.(790-792)CGCfs	p.R264fs		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	264	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CCCAgcccgcgccccccggggg	0.634												
PMEPA1	56937	broad.mit.edu	37	20	56227177	56227178	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:56227177_56227178delTG	uc002xyq.2	-	4	1188_1189	c.795_796delCA	c.(793-798)CACATCfs	p.H265fs	PMEPA1_uc002xyr.2_Frame_Shift_Del_p.H215fs|PMEPA1_uc002xys.2_Frame_Shift_Del_p.H230fs|PMEPA1_uc002xyt.2_Frame_Shift_Del_p.H215fs	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	265_266	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1						AGGGGCGCGATGTGTGTGTGGT	0.653												
CLIC6	54102	broad.mit.edu	37	21	36081075	36081076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:36081075_36081076insA	uc010gmt.1	+	5	1742_1743	c.1742_1743insA	c.(1741-1743)ATAfs	p.I581fs	CLIC6_uc002yuf.1_Frame_Shift_Ins_p.I563fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	581	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TCAGCGTTTATAAAAAACACGA	0.455												
DOPEY2	9980	broad.mit.edu	37	21	37650357	37650358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37650357_37650358insT	uc002yvg.2	+	29	5876_5877	c.5797_5798insT	c.(5797-5799)GTTfs	p.V1933fs	DOPEY2_uc011aeb.1_Frame_Shift_Ins_p.V1882fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1933					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GCTTTACTATGTTTTTCCATAC	0.426												
CSNK1E	1454	broad.mit.edu	37	22	38699188	38699188	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38699188delG	uc003avj.2	-	3	403	c.142delC	c.(142-144)CAGfs	p.Q48fs	CSNK1E_uc003avk.2_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.Q48fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.Q48fs|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	48	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					ATGTGCAGCTGGGGGTGCTTT	0.662												
OR5H1	26341	broad.mit.edu	37	3	97852456	97852456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:97852456delA	uc011bgt.1	+	1	915	c.915delA	c.(913-915)TTAfs	p.L305fs		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CAAAAATGTTAAAAAAACATG	0.323												
PIK3R4	30849	broad.mit.edu	37	3	130454824	130454824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130454824delA	uc003enj.2	-	3	1337	c.756delT	c.(754-756)TTTfs	p.F252fs		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	252	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						CACCTTCTGTAAAAAGCTCAG	0.318												
TOPBP1	11073	broad.mit.edu	37	3	133335731	133335731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:133335731delT	uc003eps.2	-	23	3930	c.3798delA	c.(3796-3798)AAAfs	p.K1266fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1266	BRCT 7.				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						ATATGTACTGTTTTTTTAATT	0.284								Other_conserved_DNA_damage_response_genes				
CCDC39	339829	broad.mit.edu	37	3	180377245	180377246	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:180377245_180377246delCA	uc010hxe.2	-	6	847_848	c.732_733delTG	c.(730-735)TGTGCTfs	p.C244fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	244_245	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTACCAAAGCACAGTTATCTA	0.327												
HRG	3273	broad.mit.edu	37	3	186395646	186395646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186395646delT	uc003fqq.2	+	7	1575	c.1552delT	c.(1552-1554)TTTfs	p.F518fs		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	518					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AGTTTCCATGTTTTTTACACA	0.348												
PPP1R2	5504	broad.mit.edu	37	3	195245976	195245976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:195245976delT	uc003fup.2	-	5	786	c.410delA	c.(409-411)AAGfs	p.K137fs		NM_006241	NP_006232	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory subunit 2	137					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			urinary_tract(1)	1	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		AAATTGTCGCTTTTTTTCTAT	0.244												
SH3BP2	6452	broad.mit.edu	37	4	2831652	2831652	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:2831652delC	uc003gfi.3	+	8	1139	c.1019delC	c.(1018-1020)TCCfs	p.S340fs	SH3BP2_uc011bvp.1_Frame_Shift_Del_p.S368fs|SH3BP2_uc003gfj.3_Frame_Shift_Del_p.S397fs|SH3BP2_uc003gfk.3_Frame_Shift_Del_p.S340fs|SH3BP2_uc003gfl.3_Frame_Shift_Del_p.S273fs|SH3BP2_uc003gfm.3_Frame_Shift_Del_p.S315fs	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	340					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTCCACCTGTCCCCCCGAGGA	0.622									Cherubism			
SLIT2	9353	broad.mit.edu	37	4	20469438	20469438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:20469438delA	uc003gpr.1	+	5	663	c.459delA	c.(457-459)ATAfs	p.I153fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.I153fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	153	LRR 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CAGTTGACATAAAAAATTTGT	0.294												
SULT1B1	27284	broad.mit.edu	37	4	70615468	70615470	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:70615468_70615470delGAA	uc003hen.2	-	4	642_644	c.344_346delTTC	c.(343-348)CTTCCT>CCT	p.L115del		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	115					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0						AAAGATTTAGGAAGAAGATCAGT	0.369												
PPEF2	5470	broad.mit.edu	37	4	76793305	76793305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:76793305delA	uc003hix.2	-	13	1879	c.1522delT	c.(1522-1524)TCTfs	p.S508fs	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Frame_Shift_Del_p.S508fs	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	508	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGAGGCAGAAAAGATTGTT	0.463												
PPID	5481	broad.mit.edu	37	4	159636518	159636518	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159636518delT	uc003iqc.2	-	6	795	c.683delA	c.(682-684)AACfs	p.N228fs		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	228	TPR 1.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ATTTCCAATGTTTTTTAAGTC	0.219												
KIAA0947	23379	broad.mit.edu	37	5	5461230	5461231	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5461230_5461231insA	uc003jdm.3	+	13	2005_2006	c.1783_1784insA	c.(1783-1785)GAAfs	p.E595fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	595										ovary(1)|central_nervous_system(1)	2						ATTGGAAAAGGAAAAAGAAGAT	0.401												
C5orf43	643155	broad.mit.edu	37	5	60455819	60455819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:60455819delT	uc010iwm.1	-	3	607	c.180delA	c.(178-180)AAAfs	p.K60fs	C5orf43_uc010iwl.1_RNA	NM_001048249	NP_001041714	Q7Z3B0	CE043_HUMAN	hypothetical protein LOC643155	60	Potential.					integral to membrane					0						TTTCTTGGCGTTTTTGCTTCT	0.418												
IPO11	51194	broad.mit.edu	37	5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:61847115delT	uc003jtc.2	+	26	2602	c.2412delT	c.(2410-2412)AGTfs	p.S804fs	IPO11_uc011cqr.1_Frame_Shift_Del_p.S844fs|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Frame_Shift_Del_p.S69fs	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	804	HEAT 12.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAAACACTAGTTTTTTTTCTT	0.303												
PRRC1	133619	broad.mit.edu	37	5	126860489	126860489	+	Frame_Shift_Del	DEL	C	C	-	rs149336967		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:126860489delC	uc003kuk.2	+	3	550	c.370delC	c.(370-372)CCCfs	p.P124fs	PRRC1_uc003kuj.3_Frame_Shift_Del_p.P124fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	124	Pro-rich.					Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTTACCTGCACCCCCTTCGGG	0.517												
CHSY3	337876	broad.mit.edu	37	5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:129241153delC	uc003kvd.2	+	1	631	c.631delC	c.(631-633)CCCfs	p.P211fs		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	211	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667												
DPYSL3	1809	broad.mit.edu	37	5	146775201	146775201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:146775201delG	uc003lon.1	-	13	1655	c.1545delC	c.(1543-1545)CCCfs	p.P515fs	DPYSL3_uc003loo.2_Frame_Shift_Del_p.P629fs	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	515					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCCTGCGGGGGTGCCAC	0.607												
WWC1	23286	broad.mit.edu	37	5	167850888	167850888	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:167850888delC	uc003lzu.2	+	11	1718	c.1625delC	c.(1624-1626)TCCfs	p.S542fs	WWC1_uc003lzv.2_Frame_Shift_Del_p.S542fs|WWC1_uc011den.1_Frame_Shift_Del_p.S542fs|WWC1_uc003lzw.2_Frame_Shift_Del_p.S341fs	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	542					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCTCTCTCCTCCCCCTCCCCA	0.627												
DSP	1832	broad.mit.edu	37	6	7580103	7580103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7580103delA	uc003mxp.1	+	23	3959	c.3680delA	c.(3679-3681)CAAfs	p.Q1227fs	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1227	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATATCCATGCAAAAAGAGGAT	0.368												
KIAA1949	170954	broad.mit.edu	37	6	30652406	30652406	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:30652406delC	uc003nra.2	-	2	1621	c.1390delG	c.(1390-1392)GCCfs	p.A464fs	KIAA1949_uc003nrb.3_Frame_Shift_Del_p.A464fs	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	464						cytoplasm|cytoskeleton	actin binding				0						CGGCGGGGGGCCCCCACCCCT	0.547												
GPSM3	63940	broad.mit.edu	37	6	32160025	32160026	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32160025_32160026insA	uc003oay.3	-	2	437_438	c.44_45insT	c.(43-45)GGCfs	p.G15fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Ins_p.A5fs|GPSM3_uc003oaz.2_Frame_Shift_Ins_p.G15fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	15					signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CCTGAGGGGGGCCCTGATGCCA	0.619												
TAP2	6891	broad.mit.edu	37	6	32805788	32805788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32805788delG	uc003occ.2	-	1	254	c.223delC	c.(223-225)CTGfs	p.L75fs	TAP2_uc011dqf.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.2_Frame_Shift_Del_p.L75fs	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	75	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						GAGACAGTCAGGGGGGTGGCC	0.692												
GPR115	221393	broad.mit.edu	37	6	47682443	47682443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:47682443delT	uc003oza.1	+	6	1720	c.1462delT	c.(1462-1464)TTTfs	p.F488fs	GPR115_uc003oyz.1_Frame_Shift_Del_p.F545fs|GPR115_uc003ozb.1_Frame_Shift_Del_p.F486fs	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	488	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CCTCTCTCTGTTTTTCTGGAT	0.408												
GRM1	2911	broad.mit.edu	37	6	146755183	146755183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:146755183delT	uc010khw.1	+	9	3306	c.2836delT	c.(2836-2838)TTTfs	p.F946fs	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	946	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)	GAGCCTGACCTTTTCAGATAC	0.552												
GTF2IRD2B	389524	broad.mit.edu	37	7	74564312	74564312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:74564312delA	uc003ubt.2	+	16	2274	c.2059delA	c.(2059-2061)AACfs	p.N687fs	GTF2IRD2B_uc010lcd.2_Frame_Shift_Del_p.N440fs|GTF2IRD2B_uc003ubu.2_Frame_Shift_Del_p.N517fs	NM_001003795	NP_001003795	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ccggggactgaaccacagcga	0.000												
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701												
XRCC2	7516	broad.mit.edu	37	7	152345769	152345769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:152345769delT	uc003wld.2	-	3	887	c.801delA	c.(799-801)AAAfs	p.K267fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	267					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAAAAAATGTTTTTTTAAAC	0.299								Homologous_recombination				
RRS1	23212	broad.mit.edu	37	8	67341501	67341501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGGACCGGAACCCCCCGACCG	0.672											OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OFD1	8481	broad.mit.edu	37	X	13778758	13778758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:13778758delG	uc004cvp.3	+	16	2538	c.2179delG	c.(2179-2181)GGGfs	p.G727fs	OFD1_uc004cvr.3_Frame_Shift_Del_p.G294fs|OFD1_uc011mil.1_Frame_Shift_Del_p.G294fs|OFD1_uc004cvq.3_Frame_Shift_Del_p.G587fs|OFD1_uc010nen.2_Frame_Shift_Del_p.G726fs|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Frame_Shift_Del_p.G686fs|OFD1_uc004cvv.3_Frame_Shift_Del_p.G686fs	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	727	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						GAGGCTCCGCGGGGGCACTTC	0.547												
BCOR	54880	broad.mit.edu	37	X	39923086	39923087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39923086_39923087insT	uc004den.3	-	8	3913_3914	c.3621_3622insA	c.(3619-3624)AAACAAfs	p.K1207fs	BCOR_uc004dep.3_Frame_Shift_Ins_p.K1173fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.K1155fs|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Frame_Shift_Ins_p.K1173fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1207_1208					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						AAGTGGCGTTGTTTTTTAGGAT	0.505												
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642												
NPHP4	261734	broad.mit.edu	37	1	5927142	5927142	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:5927141_5927141TG>T	uc001alq.2	-	24	3775	c.3507_3507CA>A	c.(3505-3507)ccafs	p.P1169fs	NPHP4_uc001alr.1_Frame_Shift_Del_p.P111fs	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1169					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	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)		GAACATGGACTGGGGGGTCCT	0.587												
VPS13D	55187	broad.mit.edu	37	1	12364655	12364656	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:12364654_12364655A>AG	uc001atv.3	+	25	6449_6450	c.6308_6309A>AG	c.(6307-6309)cagfs	p.Q2103fs	VPS13D_uc001atw.3_Frame_Shift_Ins_p.Q2103fs|VPS13D_uc001atx.3_Frame_Shift_Ins_p.Q1291fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2103					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCCATTCCCAGGGGCAGTTCA	0.574												
MAN1C1	57134	broad.mit.edu	37	1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		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)		ATGTCTCTCCCGGGGGGCTGAC	0.639												
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					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		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)		TTCTGGCCACACCCCCCTTCA	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
C1orf172	126695	broad.mit.edu	37	1	27278443	27278444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:27278442_27278443T>TG	uc001bni.2	-	1	522_523	c.429_430A>CA	c.(427-432)cccagcfs	p.P143fs	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	143										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCGCCGGCTGGGGGGTGCAC	0.634												
ZMYM4	9202	broad.mit.edu	37	1	35825031	35825032	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35825030_35825031G>GT	uc001byt.3	+	2	670_671	c.590_591G>GT	c.(589-591)agtfs	p.S197fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.S165fs|ZMYM4_uc001byu.3_Intron|ZMYM4_uc009vuv.3_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	197					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAAAGCAGTTTTTTTGATA	0.297												
KIAA0319L	79932	broad.mit.edu	37	1	35928292	35928292	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:35928291_35928291TG>T	uc001byx.3	-	7	1483	c.1225_1225CA>A	c.(1225-1227)attfs	p.I409fs	KIAA0319L_uc010ohv.1_Frame_Shift_Del_p.I51fs|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	409	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAATAGCAATGGGGGGCCGA	0.453												
FAM151A	338094	broad.mit.edu	37	1	55081757	55081758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:55081756_55081757T>TG	uc001cxn.3	-	2	483_484	c.351_352A>CA	c.(349-354)cccactfs	p.P117fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	117						integral to membrane		p.T118fs*43(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594												
CCDC18	343099	broad.mit.edu	37	1	93649684	93649684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:93649683_93649683CA>C	uc021opx.1	+	2	444	c.283_283CA>C	c.(283-285)caafs	p.Q95fs		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	95										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CACTGATTTTCAAAAAAAGCC	0.308												
COL11A1	1301	broad.mit.edu	37	1	103364506	103364506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:103364505_103364505CT>C	uc001dum.3	-	54	4486	c.4168_4168AG>G	c.(4168-4170)ggtfs	p.G1390fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.G574fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.G1378fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.G1339fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.G1262fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1378	Triple-helical region.				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			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)		aCCTTAGCACCTTTTTCACCT	0.264												
AMPD2	271	broad.mit.edu	37	1	110169810	110169810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:110169809_110169809AC>A	uc009wfh.1	+	7	1435	c.893_893AC>A	c.(892-894)cacfs	p.H298fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.H217fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.H298fs|AMPD2_uc010ovr.1_Frame_Shift_Del_p.H223fs|AMPD2_uc010ovs.1_Frame_Shift_Del_p.H180fs|AMPD2_uc001dyd.1_Frame_Shift_Del_p.H179fs|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	298					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCCCGGTGCACCCCCCTGCG	0.652												
ATP1A1	476	broad.mit.edu	37	1	116936320	116936320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:116936319_116936319TG>T	uc001ege.3	+	11	1973	c.1634_1634TG>T	c.(1633-1635)ctgfs	p.L545fs	ATP1A1_uc010owv.1_Frame_Shift_Del_p.L514fs|ATP1A1_uc010oww.2_Frame_Shift_Del_p.L545fs|ATP1A1_uc010owx.2_Frame_Shift_Del_p.L514fs|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	545					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TATTTGGAGCTGGGGGGCCTC	0.532												
SELENBP1	8991	broad.mit.edu	37	1	151341565	151341568	+	Frame_Shift_Del	DEL	GTGC	GTGC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:151341564_151341567GGTGC>G	uc010pcy.2	-	3	529_532	c.399_402GCACC>C	c.(397-402)cgcaccfs	p.R133fs	SELENBP1_uc001exx.3_Frame_Shift_Del_p.R91fs|SELENBP1_uc010pcz.2_Intron|SELENBP1_uc001eya.3_Frame_Shift_Del_p.R27fs	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	91					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			GCACCAGCTTGGTGCGCGACTTGG	0.613												
KCNJ10	3766	broad.mit.edu	37	1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160012017_160012017CG>C	uc001fuw.2	-	1	546	c.306_306CG>G	c.(304-306)ccgfs	p.P102fs		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCA	0.582												
ATP1A2	477	broad.mit.edu	37	1	160100056	160100057	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160100055_160100056T>TG	uc001fvc.3	+	11	1757_1758	c.1625_1626T>TG	c.(1624-1626)ctgfs	p.L542fs	ATP1A2_uc001fvb.2_Frame_Shift_Ins_p.L542fs|ATP1A2_uc001fvd.3_Frame_Shift_Ins_p.L278fs|ATP1A2_uc009wtg.1_Frame_Shift_Ins_p.L230fs	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	542					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TACATGGAGCTGGGGGGACTTG	0.614												
NCSTN	23385	broad.mit.edu	37	1	160313199	160313199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:160313198_160313198AG>A	uc001fvx.3	+	0	136	c.12_12AG>A	c.(10-12)gcafs	p.A4fs	COPA_uc009wti.3_5'UTR|COPA_uc001fvv.4_5'UTR|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_5'UTR|NCSTN_uc010pjf.2_Frame_Shift_Del_p.A4fs	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	4					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCTACGGCAGGGGGTGGCT	0.657												
POU2F1	5451	broad.mit.edu	37	1	167368478	167368478	+	Frame_Shift_Del	DEL	A	A	-	rs12030882		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:167368477_167368477GA>G	uc001gec.3	+	12	1494	c.1255_1255GA>G	c.(1255-1257)gaafs	p.E419fs	POU2F1_uc001gee.3_Frame_Shift_Del_p.E442fs|POU2F1_uc010plh.2_Frame_Shift_Del_p.E379fs|POU2F1_uc001ged.3_Frame_Shift_Del_p.E417fs|POU2F1_uc001gef.3_Frame_Shift_Del_p.E431fs|POU2F1_uc001geg.3_Frame_Shift_Del_p.E317fs|POU2F1_uc009wvg.1_Non-coding_Transcript	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	419					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTCAATATGGAAAAAGAGGT	0.433												
SCYL3	57147	broad.mit.edu	37	1	169823472	169823473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:169823471_169823472C>CT	uc001ggs.2	-	12	2306_2307	c.2108_2109G>AG	c.(2107-2109)aagfs	p.K703fs	SCYL3_uc010plw.1_Frame_Shift_Ins_p.K295fs|SCYL3_uc001ggt.2_Frame_Shift_Ins_p.K649fs	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	703	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGACATCATCCTTTTTTGGGAC	0.406												
ABL2	27	broad.mit.edu	37	1	179077894	179077894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:179077893_179077893AT>A	uc001gmj.4	-	11	2796	c.2509_2509AT>T	c.(2509-2511)tcafs	p.S837fs	ABL2_uc010pnf.2_Frame_Shift_Del_p.S734fs|ABL2_uc010png.2_Frame_Shift_Del_p.S713fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.S816fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.S719fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.S822fs|ABL2_uc010pne.2_Frame_Shift_Del_p.S698fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	837	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGA	0.522			T	ETV6	AML							
KIAA1614	57710	broad.mit.edu	37	1	180905051	180905051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:180905050_180905050TG>T	uc001gok.2	+	4	2072	c.2005_2005TG>T	c.(2005-2007)tggfs	p.W669fs	KIAA1614_uc001gol.1_Frame_Shift_Del_p.W290fs|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	669										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGCTCCCTTGGGGCCTTCA	0.637												
PRG4	10216	broad.mit.edu	37	1	186277364	186277364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:186277363_186277363AC>A	uc001gru.4	+	6	2563	c.2512_2512AC>A	c.(2512-2514)accfs	p.T838fs	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T797fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T745fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T704fs|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	838	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACTACCCCCAAGAA	0.567												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627												
PLEKHA6	22874	broad.mit.edu	37	1	204228417	204228417	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:204228416_204228416CG>C	uc001hau.3	-	7	1294	c.977_977CG>G	c.(976-978)cggfs	p.R326fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	326	Pro-rich.							p.V328fs*172(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGTACCCCCCGGCGCAGATT	0.627												
ARF1	375	broad.mit.edu	37	1	228284858	228284858	+	Frame_Shift_Del	DEL	A	A	-	rs11541555		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr1:228284857_228284857CA>C	uc001hrs.3	+	1	185	c.42_42CA>C	c.(40-42)ggcfs	p.G14fs	ARF1_uc001hrr.3_Frame_Shift_Del_p.G14fs|ARF1_uc001hru.3_Frame_Shift_Del_p.G14fs|ARF1_uc001hrv.3_Frame_Shift_Del_p.G14fs|MIR3620_uc021pkd.1_5'Flank	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	14					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				GCCTTTTTGGCAAAAAAGAAA	0.542												
MYT1L	23040	broad.mit.edu	37	2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:1926366_1926366CG>C	uc002qxe.3	-	9	2002	c.1175_1175CG>G	c.(1174-1176)cggfs	p.R392fs	MYT1L_uc002qxd.3_Frame_Shift_Del_p.R392fs|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	392					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACTCTCGACCGGGGGCTCAA	0.597												
ZNF513	130557	broad.mit.edu	37	2	27601437	27601437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:27601436_27601436TG>T	uc002rkk.3	-	2	915	c.697_697CA>A	c.(697-699)actfs	p.T233fs	ZNF513_uc002rkj.3_Frame_Shift_Del_p.T171fs	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGAGGAGTGGGGGGCCCT	0.706												
C2orf71	388939	broad.mit.edu	37	2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:29294161_29294161AG>A	uc002rmt.2	-	0	2967	c.2967_2967CT>T	c.(2965-2967)cctfs	p.P989fs		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	989					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTGCCCACAGGGGGGCTTC	0.642												
FAM98A	25940	broad.mit.edu	37	2	33809925	33809925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:33809924_33809924AC>A	uc002rpa.1	-	7	1550	c.1476_1476GT>T	c.(1474-1476)ggtfs	p.G492fs	FAM98A_uc010yne.1_Frame_Shift_Del_p.G297fs|FAM98A_uc010ynd.1_Frame_Shift_Del_p.G323fs|FAM98A_uc002roz.1_Frame_Shift_Del_p.G330fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	493	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTTCAAATTGACCCCCTTGGT	0.532												
MTIF2	4528	broad.mit.edu	37	2	55481808	55481808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55481807_55481807AT>A	uc002ryn.3	-	6	1223	c.486_486AT>T	c.(484-486)aatfs	p.N162fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N162fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	162					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CAGCATCTTTATTTTTTCTGA	0.343												
CCDC88A	55704	broad.mit.edu	37	2	55570930	55570930	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:55570929_55570929CT>C	uc002ryv.2	-	12	2031	c.1189_splice	c.e12-1	p.E397_splice	CCDC88A_uc010ypa.1_Splice_Site_p.E397_splice|CCDC88A_uc010yoz.1_Splice_Site_p.E397_splice|CCDC88A_uc010ypb.1_Splice_Site_p.E299_splice	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	397					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATCTCGTTCCTTTTTTATTG	0.303												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
GCC2	9648	broad.mit.edu	37	2	109087884	109087884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:109087883_109087883GA>G	uc002tec.3	+	5	2252	c.2098_2098GA>G	c.(2098-2100)gaafs	p.E700fs	GCC2_uc002ted.3_Frame_Shift_Del_p.E599fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACA	0.308												
GPR17	2840	broad.mit.edu	37	2	128409237	128409237	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:128409236_128409236CA>C	uc010yzn.2	+	3	1622	c.1011_1011CA>C	c.(1009-1011)tgcfs	p.C337fs	LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Frame_Shift_Del_p.C337fs|GPR17_uc010yzo.2_Frame_Shift_Del_p.C309fs|GPR17_uc002tpd.3_Frame_Shift_Del_p.C309fs	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	337						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ACGCCCTGTGCAACTTGCTCT	0.612												
TANC1	85461	broad.mit.edu	37	2	159954334	159954335	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:159954333_159954334C>CA	uc002uag.3	+	3	520_521	c.246_247C>CA	c.(244-249)aacaaafs	p.N82fs	TANC1_uc010fol.1_Frame_Shift_Ins_p.N82fs|TANC1_uc010zcm.2_Frame_Shift_Ins_p.N82fs|TANC1_uc010fom.1_Frame_Shift_Ins_p.N82fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	82						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAAGAGTGAACAAAAAATCCCC	0.455												
SCN1A	6323	broad.mit.edu	37	2	166847923	166847925	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:166847922_166847924TAAG>T	uc002udo.4	-	27	6088_6090	c.5861_5863CTTA>A	c.(5860-5865)cttata>cAta	p.1954_1955LI>H	SCN1A_uc010fpk.3_In_Frame_Del_p.1926_1927LI>H|SCN1A_uc021vsb.1_In_Frame_Del_p.1943_1944LI>H	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1954						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTCTTTTATAAGAAGATTAGC	0.369												
DHRS9	10170	broad.mit.edu	37	2	169948389	169948390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:169948388_169948389G>GA	uc010zdc.2	+	3	953_954	c.841_842G>GA	c.(841-843)gaafs	p.E281fs	DHRS9_uc002uep.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc002ueq.3_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zdd.2_Frame_Shift_Ins_p.E221fs|DHRS9_uc010zde.2_Frame_Shift_Ins_p.E221fs	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	221					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGTAATTGAAAAAAAACTC	0.426												
NBEAL1	65065	broad.mit.edu	37	2	204058623	204058623	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:204058622_204058622AT>A	uc002uzt.3	+	45	7272	c.6939_6939AT>A	c.(6937-6939)tcafs	p.S2313fs	NBEAL1_uc021vvj.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2313							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACTCAAGTCATTTTTTATAG	0.343												
INO80D	54891	broad.mit.edu	37	2	206869434	206869436	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:206869433_206869435AAAG>A	uc002vaz.4	-	10	3146_3148	c.2741_2743CTTT>T	c.(2740-2745)ctttcc>cTcc	p.S915del		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	646					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGGGAAGTGGAAAGAAGATGTCC	0.586												
CRYGD	1421	broad.mit.edu	37	2	208986447	208986447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:208986446_208986446GC>G	uc002vcn.4	-	2	592	c.476_476GC>C	c.(475-477)gccfs	p.A159fs	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Frame_Shift_Del_p.A159fs	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGCATTCGTGGCCCCCCAGTC	0.502												
SPAG16	79582	broad.mit.edu	37	2	214878730	214878730	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:214878729_214878729GT>G	uc002veq.3	+	12	1547	c.1455_1455GT>G	c.(1453-1455)gagfs	p.E485fs	SPAG16_uc010fuz.2_Frame_Shift_Del_p.E336fs|SPAG16_uc002ver.3_Frame_Shift_Del_p.E431fs|SPAG16_uc010zjk.2_Frame_Shift_Del_p.E391fs	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	485					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACAGCATTGAGTTTTTTCCTT	0.363												
TRIP12	9320	broad.mit.edu	37	2	230672544	230672544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:230672543_230672543CA>C	uc002vpx.1	-	16	2486	c.2377_2377TG>G	c.(2377-2379)gcafs	p.A793fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.A751fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.A448fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.A745fs|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Frame_Shift_Del_p.A751fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	745	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTATCAACTGCAAAAATGCCT	0.383												
IQCA1	79781	broad.mit.edu	37	2	237405943	237405943	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:237405942_237405942TG>T	uc002vwb.2	-	1	255	c.221_221CA>A	c.(220-222)cagfs	p.Q74fs	IQCA1_uc002vvz.1_Frame_Shift_Del_p.Q67fs|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Frame_Shift_Del_p.Q67fs	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	67							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TATTCGTTTCTGGGGGTGGAC	0.473												
THAP4	51078	broad.mit.edu	37	2	242573292	242573292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr2:242573291_242573291GC>G	uc002wbt.3	-	1	574	c.281_281GC>C	c.(280-282)gctfs	p.A94fs		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	94							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGCCTCCAGCCCCCCTCTT	0.637												
TADA3	10474	broad.mit.edu	37	3	9831567	9831567	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:9831566_9831566TG>T	uc003bsx.1	-	2	837	c.289_289CA>A	c.(289-291)aaafs	p.K97fs	TADA3_uc010hcn.1_Frame_Shift_Del_p.K97fs|TADA3_uc003bsy.3_Frame_Shift_Del_p.K97fs|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	97					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCT	0.542												
TATDN2	9797	broad.mit.edu	37	3	10291121	10291123	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:10291120_10291122ACTC>A	uc011atr.2	+	1	817_819	c.236_238ACTC>A	c.(235-240)aactcc>aAcc	p.S83del	TATDN2_uc003bvg.2_In_Frame_Del_p.S83del|TATDN2_uc003bvf.3_In_Frame_Del_p.S83del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	83						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGCAGAAATAACTCCTCCTCCTC	0.631												
EPM2AIP1	9852	broad.mit.edu	37	3	37034280	37034281	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:37034279_37034280GCT>G	uc003cgk.3	-	0	516_517	c.289_290AGC>C	c.(289-291)gctfs	p.A97fs	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	97						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGCACGAGCAGCTCTCTCTTCA	0.649												
VILL	50853	broad.mit.edu	37	3	38039625	38039626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38039624_38039625A>AC	uc003chj.3	+	7	1094_1095	c.808_809A>AC	c.(808-810)accfs	p.T270fs	VILL_uc003chk.1_Frame_Shift_Ins_p.T270fs|VILL_uc003chl.3_Frame_Shift_Ins_p.T270fs|VILL_uc010hgu.3_Frame_Shift_Ins_p.T100fs	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	270					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644												
SCN10A	6336	broad.mit.edu	37	3	38750970	38750970	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:38750969_38750969CT>C	uc003ciq.3	-	24	4281	c.4281_splice	c.e24+1	p.K1427_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1427					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCACTTATCTTTTTTTTCT	0.413												
USP19	10869	broad.mit.edu	37	3	49153503	49153504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:49153502_49153503G>GC	uc003cwd.2	-	8	1464_1465	c.1145_1146C>GC	c.(1144-1146)ggcfs	p.G382fs	USP19_uc003cwa.3_Frame_Shift_Ins_p.G188fs|USP19_uc003cwb.3_Frame_Shift_Ins_p.G468fs|USP19_uc003cvz.4_Frame_Shift_Ins_p.G483fs|USP19_uc011bcg.2_Frame_Shift_Ins_p.G473fs|USP19_uc003cwc.2_Frame_Shift_Ins_p.G138fs|USP19_uc011bch.2_Frame_Shift_Ins_p.G483fs|USP19_uc011bci.2_Frame_Shift_Ins_p.G468fs	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	382	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L469fs*49(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTCCAGGCCCCCCCAGCG	0.599												
STAB1	23166	broad.mit.edu	37	3	52547908	52547909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:52547907_52547908G>GC	uc003dej.3	+	31	3431_3432	c.3357_3358G>GC	c.(3355-3360)ctgcccfs	p.L1119fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1119					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	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				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)		AGGTCTTACTGCCCCCCCGAGG	0.624												
ZBTB11	27107	broad.mit.edu	37	3	101370325	101370326	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:101370324_101370325C>CT	uc003dve.4	-	10	3077_3078	c.2847_2848G>AG	c.(2845-2850)aaagacfs	p.K949fs		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	949					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAGGGTGTCTTTTTCCAGCA	0.436												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
SEMA5B	54437	broad.mit.edu	37	3	122629052	122629052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:122629051_122629051AG>A	uc003efz.1	-	22	3699	c.3395_3395CT>T	c.(3394-3396)ctgfs	p.L1132fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.L1038fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Frame_Shift_Del_p.L110fs	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1132					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGTTTGTTCAGGGGGCTTGG	0.537												
ASTE1	28990	broad.mit.edu	37	3	130743303	130743303	+	Frame_Shift_Del	DEL	T	T	-	rs34815684		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:130743302_130743302CT>C	uc010htm.1	-	2	1056	c.849_849AG>G	c.(847-849)aagfs	p.K283fs	NEK11_uc003enx.3_5'Flank|NEK11_uc003eny.3_5'Flank|NEK11_uc003eoa.3_5'Flank|NEK11_uc003enz.3_5'Flank|NEK11_uc011blk.2_5'Flank|NEK11_uc011bll.2_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.2_5'Flank|ASTE1_uc003env.1_Frame_Shift_Del_p.K283fs|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	283					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTCGATCCTTTTTTGGGA	0.448												
STAG1	10274	broad.mit.edu	37	3	136088059	136088060	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:136088058_136088059CCT>C	uc003era.1	-	23	2728_2729	c.2436_2437AGG>G	c.(2434-2439)gagggcfs	p.E812fs	STAG1_uc003erb.1_Frame_Shift_Del_p.E812fs|STAG1_uc003erc.1_Frame_Shift_Del_p.E586fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	812					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGCTGAAGGCCCTCTCTGCCAC	0.416												
WDR49	151790	broad.mit.edu	37	3	167217955	167217955	+	Frame_Shift_Del	DEL	G	G	-	rs146880701		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:167217954_167217954CG>C	uc003fev.1	-	13	2266	c.1962_1962CG>G	c.(1960-1962)ccgfs	p.P654fs	WDR49_uc003feu.1_Frame_Shift_Del_p.P479fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.P619fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	654								p.P654Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAAAAAGTGACGGGGCCTCCA	0.403												
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:169540248_169540248TC>T	uc003fgb.3	+	0	539	c.539_539TC>T	c.(538-540)ttcfs	p.F180fs		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTGAAGTTTTCCCCCAGGAG	0.517												
TBL1XR1	79718	broad.mit.edu	37	3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:176769341_176769341AT>A	uc003fiw.4	-	4	638	c.378_378AT>T	c.(376-378)aatfs	p.N126fs	TBL1XR1_uc003fix.4_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.2_5'UTR|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TGTTTTCTCCATTTTTTGCAG	0.413												
TBCCD1	55171	broad.mit.edu	37	3	186274567	186274567	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:186274566_186274566TA>T	uc003fqg.3	-	4	622	c.493_splice	c.e4-1	p.N165_splice	TBCCD1_uc011bry.2_Splice_Site_p.N165_splice|TBCCD1_uc003fqh.3_Splice_Site_p.N69_splice	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	165					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		ATTCCAGTTCTAAAAAAAAGT	0.328												
FYTTD1	84248	broad.mit.edu	37	3	197505338	197505338	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr3:197505337_197505337TA>T	uc003fyi.2	+	8	1077	c.858_splice	c.e8+2	p.Q286_splice	FYTTD1_uc011bui.1_Splice_Site_p.Q260_splice|FYTTD1_uc011buj.1_Splice_Site|FYTTD1_uc011buk.1_Splice_Site_p.Q219_splice	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	286					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GGAAAACAGGTAAAAAAACGT	0.343												
FAM193A	8603	broad.mit.edu	37	4	2695394	2695394	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:2695393_2695393GC>G	uc010ick.3	+	14	2612	c.2611_2611GC>G	c.(2611-2613)gccfs	p.A871fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.A671fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.A693fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.A671fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.A671fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.A525fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	671								p.R871Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CACGGGCTTGGCCCCCCTCCC	0.627												
NCAPG	64151	broad.mit.edu	37	4	17844999	17845000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:17844998_17844999G>GA	uc003gpp.3	+	20	3174_3175	c.2998_2999G>GA	c.(2998-3000)gaafs	p.E1000fs	NCAPG_uc011bxj.2_Frame_Shift_Ins_p.E509fs|LCORL_uc021xmq.1_3'UTR|LCORL_uc003gpq.3_3'UTR|LCORL_uc011bxk.2_3'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	1000					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CGCAGCACTAGAAAAAAGTAAA	0.366												
KLF3	51274	broad.mit.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617												
GNPDA2	132789	broad.mit.edu	37	4	44719257	44719257	+	Frame_Shift_Del	DEL	A	A	-	rs6818617		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:44719256_44719256TA>T	uc003gwy.3	-	3	440	c.283_283TA>A	c.(283-285)aagfs	p.K95fs	GNPDA2_uc010iga.3_Frame_Shift_Del_p.K61fs|GNPDA2_uc011bzb.2_Frame_Shift_Del_p.K25fs|GNPDA2_uc003gwz.1_Frame_Shift_Del_p.K95fs	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	95					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TCGATATGCTTAAAAAAATTA	0.299												
ENPEP	2028	broad.mit.edu	37	4	111482571	111482572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:111482570_111482571C>CT	uc003iab.4	+	19	3072_3073	c.2730_2731C>CT	c.(2728-2733)agctttfs	p.S910fs		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	910					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATGGAGAGCTTTTTTGCAAA	0.356												
PCDH10	57575	broad.mit.edu	37	4	134071968	134071969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:134071967_134071968G>GC	uc003iha.3	+	0	1498_1499	c.672_673G>GC	c.(670-675)ctgcccfs	p.L224fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.L224fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668												
RNF150	57484	broad.mit.edu	37	4	141832328	141832328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:141832327_141832327TG>T	uc003iio.1	-	5	1823	c.1169_1169CA>A	c.(1168-1170)cagfs	p.Q390fs	RNF150_uc010iok.1_Frame_Shift_Del_p.Q348fs|RNF150_uc003iip.1_Frame_Shift_Del_p.Q390fs	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	390						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCTCCCTCCTGGGGGATGGG	0.498												
FNIP2	57600	broad.mit.edu	37	4	159789660	159789661	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr4:159789659_159789660A>AG	uc003iqe.4	+	12	2054_2055	c.1871_1872A>AG	c.(1870-1872)cagfs	p.Q624fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	624	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGCCAGAGCAGGGTTCTGAGG	0.554												
KIAA0947	23379	broad.mit.edu	37	5	5461231	5461232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:5461230_5461231G>GA	uc003jdm.4	+	12	2005_2006	c.1783_1784G>GA	c.(1783-1785)gaafs	p.E595fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	595										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATTGGAAAAGGAAAAAGAAGAT	0.401												
CDH10	1008	broad.mit.edu	37	5	24488219	24488219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:24488218_24488218CT>C	uc003jgr.2	-	11	2427	c.1921_1921AG>G	c.(1921-1923)gagfs	p.E641fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGC	0.408										HNSCC(23;0.051)		
PDZD2	23037	broad.mit.edu	37	5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574												
ARRDC3	57561	broad.mit.edu	37	5	90678675	90678677	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:90678674_90678676ACTT>A	uc003kjz.2	-	0	474_476	c.234_236AAGT>T	c.(232-237)gaagta>gaTa	p.78_79EV>D	LOC100129716_uc003kka.4_Intron	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	78					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAATACTCTACTTCTTCAGTGT	0.374												
MAN2A1	4124	broad.mit.edu	37	5	109103388	109103389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:109103387_109103388G>GT	uc003kou.1	+	5	1950_1951	c.987_988G>GT	c.(985-990)gagtttfs	p.E329fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	329					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.L328L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAACATTGGAGTTTTTTTGGAG	0.396												
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383												
PCDHAC2	56134	broad.mit.edu	37	5	140255609	140255609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:140255608_140255608CA>C	uc003lic.2	+	0	678	c.551_551CA>C	c.(550-552)acafs	p.T184fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.T184fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	199	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q183H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATAAAAACAAAAAAAGAT	0.368												
FBXO38	81545	broad.mit.edu	37	5	147818027	147818027	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:147818026_147818026AG>A	uc003lpf.1	+	17	3109	c.2989_2989AG>A	c.(2989-2991)agafs	p.R997fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.R922fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.R752fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	997						cytoplasm|nucleus		p.E996K(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCGAGAGAAACCGCAT	0.413												
FAT2	2196	broad.mit.edu	37	5	150886794	150886794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:150886793_150886793TG>T	uc003lue.4	-	21	12452	c.12439_12439CA>A	c.(12439-12441)agafs	p.R4147fs	FAT2_uc003lud.4_Frame_Shift_Del_p.R754fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4147					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGGAGTCTGGGGGGCACA	0.562												
GABRA6	2559	broad.mit.edu	37	5	161115971	161115971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:161115970_161115970GT>G	uc003lyu.2	+	3	579	c.241_241GT>G	c.(241-243)gttfs	p.V81fs	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	81					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V81F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TACGATGGATGTTTTTTTCCG	0.403										TCGA Ovarian(5;0.080)		
CDHR2	54825	broad.mit.edu	37	5	176011640	176011640	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr5:176011639_176011639AG>A	uc021yie.1	+	18	2631	c.2357_2357AG>A	c.(2356-2358)cagfs	p.Q786fs	CDHR2_uc003mem.2_Frame_Shift_Del_p.Q786fs|CDHR2_uc003men.1_Frame_Shift_Del_p.Q786fs	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	786	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCAGACCCCCAGGGGGGTGAG	0.607												
DSP	1832	broad.mit.edu	37	6	7580509	7580509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:7580508_7580508TA>T	uc003mxp.1	+	22	4364	c.4085_4085TA>T	c.(4084-4086)ttafs	p.L1362fs	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1362	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCATTAGCTTAAAAAATCAG	0.458												
GPSM3	63940	broad.mit.edu	37	6	32160026	32160027	+	Splice_Site	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:32160025_32160026G>GA	uc003oay.4	-	2	445	c.43_splice	c.e2-1	p.G15_splice	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Splice_Site_p.G15_splice	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	15					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCTGAGGGGGGCCCTGATGCCA	0.619												
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATA	0.343												
TRERF1	55809	broad.mit.edu	37	6	42231112	42231112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:42231111_42231111AG>A	uc003ose.2	-	7	2394	c.1831_1831CT>T	c.(1831-1833)tccfs	p.S611fs	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Frame_Shift_Del_p.S611fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	611	Interacts with CREBBP.|Pro-rich.				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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.S611S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTGGCGGAGGGGGCGGCA	0.647												
ENPP4	22875	broad.mit.edu	37	6	46107942	46107942	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:46107941_46107941GA>G	uc003oxy.3	+	1	880	c.621_621GA>G	c.(619-621)ttgfs	p.L207fs		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	207						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCAGAGTGTTGAAAAAAATAG	0.403												
BCKDHB	594	broad.mit.edu	37	6	80881074	80881075	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:80881073_80881074A>AT	uc003pjd.2	+	5	775_776	c.708_709A>AT	c.(706-711)atatttfs	p.I236fs	BCKDHB_uc003pje.2_Frame_Shift_Ins_p.I236fs	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	236					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATCCTTGTATATTTTTTGAACC	0.307												
CDK19	23097	broad.mit.edu	37	6	110953367	110953367	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:110953366_110953366TA>T	uc003puh.1	-	6	588	c.515_splice	c.e6-1	p.A172_splice	CDK19_uc003pui.1_Splice_Site_p.A112_splice|CDK19_uc011eax.1_Splice_Site_p.A48_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	172	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCATGTCAGCtaaaaaaataa	0.343												
PBOV1	59351	broad.mit.edu	37	6	138539365	138539366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:138539364_138539365C>CT	uc003qhv.3	-	0	263_264	c.168_169G>AG	c.(166-171)aaagaafs	p.K56fs	KIAA1244_uc003qhu.3_Intron	NM_021635	NP_067648	Q9GZY1	PBOV1_HUMAN	Homo sapiens prostate and breast cancer overexpressed 1 (PBOV1), mRNA.	56						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TTTACTTTTTCTTTTTTTCGAA	0.396												
SYNE1	23345	broad.mit.edu	37	6	152673183	152673183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:152673182_152673182CT>C	uc021zhb.1	-	67	11783	c.11560_11560AG>G	c.(11560-11562)gctfs	p.A3854fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.A3839fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.A3854fs|SYNE1_uc010kja.2_Frame_Shift_Del_p.A559fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3854					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATAACTGAGCTTTTTTCTCA	0.403										HNSCC(10;0.0054)		
SYNJ2	8871	broad.mit.edu	37	6	158497755	158497755	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:158497754_158497754AC>A	uc003qqx.2	+	16	2495	c.2389_2389AC>A	c.(2389-2391)accfs	p.T797fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.T797fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.T560fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.T414fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.T140fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	797							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R796C(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAAATGCCGCACCCCCGCCTG	0.537												
T	6862	broad.mit.edu	37	6	166571994	166571994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr6:166571993_166571993GC>G	uc003qut.1	-	7	1407	c.1121_1121GC>C	c.(1120-1122)gccfs	p.A374fs	T_uc003quu.1_Frame_Shift_Del_p.A373fs|T_uc003quv.1_Frame_Shift_Del_p.A315fs	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	373					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GAAGAACTGGGCCCCCAGCCC	0.692									Chordoma, Familial Clustering of			
TRIL	9865	broad.mit.edu	37	7	28996482	28996482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:28996481_28996481CG>C	uc003szt.3	-	2	1546	c.1179_1179CG>G	c.(1177-1179)ccgfs	p.P393fs	DQ601810_uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	Homo sapiens TLR4 interactor with leucine-rich repeats (TRIL), mRNA.	394	LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTCGCAGGGCCGGGGGGTGGC	0.662												
TNS3	64759	broad.mit.edu	37	7	47336681	47336682	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:47336680_47336681C>CT	uc003tnw.3	-	24	4034	c.3676_splice	c.e24+1	p.A1226_splice	TNS3_uc022acn.1_Splice_Site_p.A783_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1226	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTAACCTTACCTTTCTTGTTCA	0.460												
FIGNL1	63979	broad.mit.edu	37	7	50514060	50514060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:50514059_50514059CT>C	uc003tpd.3	-	3	1297	c.927_927AG>G	c.(925-927)aagfs	p.K309fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.K198fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.K309fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.K309fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	309					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTTGGTGGTACTTTTTTTGCT	0.428												
PCLO	27445	broad.mit.edu	37	7	82595551	82595551	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:82595550_82595550AT>A	uc003uhx.2	-	3	3843	c.3554_3554AT>T	c.(3553-3555)attfs	p.I1185fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.I1185fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1124					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K1184T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATAGGAGGAATTTTTTCCAT	0.348												
TRIM4	89122	broad.mit.edu	37	7	99489911	99489913	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:99489910_99489912TAGA>T	uc003usd.3	-	6	1576_1578	c.1377_1379TCTA>A	c.(1375-1380)ttctac>ttAc	p.459_460FY>L	TRIM4_uc003use.3_In_Frame_Del_p.433_434FY>L|TRIM4_uc011kjc.2_In_Frame_Del_p.289_290FY>L	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CACAGCGCTGTAGAAGGAGACAT	0.532												
PUS7	54517	broad.mit.edu	37	7	105122810	105122810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:105122809_105122809GT>G	uc010lji.3	-	7	1025	c.1017_1017AC>C	c.(1015-1017)aacfs	p.N339fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.N333fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.N333fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	333					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATTTCAGTGGGTTTTTTTGAT	0.413												
PPP1R3A	5506	broad.mit.edu	37	7	113518398	113518399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:113518397_113518398G>GA	uc010ljy.1	-	3	2780_2781	c.2749_2750C>TC	c.(2749-2751)tccfs	p.S917fs		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	917					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGATGTTTGGAAAAAGGAGAG	0.396												
ZNF800	168850	broad.mit.edu	37	7	127014068	127014068	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:127014067_127014067CT>C	uc010lla.2	-	4	2035	c.1323_1323AG>G	c.(1321-1323)aagfs	p.K441fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K344fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K441fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K441fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CCGGTGTGTTCTTTTTTTCAT	0.403												
ATP6V1F	9296	broad.mit.edu	37	7	128502969	128502969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:128502968_128502968AG>A	uc022all.1	+	0	112	c.10_10AG>A	c.(10-12)aggfs	p.R4fs	KCP_uc003vob.1_Non-coding_Transcript|ATP6V1F_uc003voc.2_Frame_Shift_Del_p.R4fs	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	4					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						GATGGCGGGGAGGGGTAAGCT	0.642												
ATP6V0A4	50617	broad.mit.edu	37	7	138394461	138394461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:138394460_138394460TA>T	uc003vuf.3	-	19	2576	c.2338_2338TA>A	c.(2338-2340)attfs	p.I780fs	ATP6V0A4_uc003vug.3_Frame_Shift_Del_p.I780fs|ATP6V0A4_uc003vuh.3_Frame_Shift_Del_p.I780fs	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	780					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAAAAATAATAAAAACCCCG	0.527												
SSPO	23145	broad.mit.edu	37	7	149523543	149523544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr7:149523542_149523543G>GC	uc010lpk.3	+	100	14429_14430	c.14429_14430G>GC	c.(14428-14430)tgcfs	p.C4810fs	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4818	TSP type-1 24.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCACAGAGTGCCCCCCTGGCC	0.663												
MYOM2	9172	broad.mit.edu	37	8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-	rs34620424	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:2088682_2088682CG>C	uc003wpx.4	+	32	3975	c.3837_3837CG>C	c.(3835-3837)atcfs	p.I1279fs	MYOM2_uc011kwi.2_Frame_Shift_Del_p.I704fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTG	0.448												
SOX7	83595	broad.mit.edu	37	8	10583646	10583646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:10583645_10583645AG>A	uc011kwz.2	-	5	959	c.926_926CT>T	c.(925-927)ctgfs	p.L309fs	SOX7_uc003wtf.3_Frame_Shift_Del_p.L257fs	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	257	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CAGGGAGCCCAGGGGGTGGCT	0.687												
DLC1	10395	broad.mit.edu	37	8	12957997	12957997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:12957996_12957996CG>C	uc003wwm.2	-	8	2294	c.1850_1850CG>G	c.(1849-1851)cggfs	p.R617fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.R180fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.R214fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.R106fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	617					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGAGTTAGTCCGGGGGGTGGC	0.652												
EPB49	2039	broad.mit.edu	37	8	21926552	21926553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:21926551_21926552T>TC	uc022asw.1	+	3	312_313	c.274_275T>TC	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Ins_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Ins_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Ins_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Ins_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACCA	0.604												
ADAM28	10863	broad.mit.edu	37	8	24188715	24188715	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:24188714_24188714GT>G	uc003xdy.3	+	11	1238	c.1155_1155GT>G	c.(1153-1155)aagfs	p.K385fs	ADAM28_uc003xdx.3_Frame_Shift_Del_p.K385fs|ADAM28_uc011kzz.2_Frame_Shift_Del_p.K152fs|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Frame_Shift_Del_p.K72fs	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	385	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTATGACAAGTTTTTTGAAG	0.388												
RBPMS	11030	broad.mit.edu	37	8	30361898	30361899	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:30361897_30361898C>CA	uc003xic.1	+	4	1006_1007	c.341_342C>CA	c.(340-342)ccafs	p.P114fs	RBPMS_uc003xid.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xie.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xif.1_Non-coding_Transcript|RBPMS_uc011lba.1_Frame_Shift_Ins_p.P114fs|RBPMS_uc003xib.3_Frame_Shift_Ins_p.P114fs|RBPMS_uc010lvh.1_Frame_Shift_Ins_p.P10fs	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	Homo sapiens RNA binding protein with multiple splicing (RBPMS), transcript variant 4, mRNA.	114					RNA processing|positive regulation of SMAD protein import into nucleus|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GTAGGGACTCCAAACCCCAGTA	0.450												
RAB11FIP1	80223	broad.mit.edu	37	8	37730181	37730182	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:37730180_37730181G>GT	uc003xkm.2	-	3	2195_2196	c.2139_2140C>AC	c.(2137-2142)aaacaafs	p.K713fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.K42fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.K42fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	713					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTAGTCTTGTTTTTTGCAGG	0.545												
PCMTD1	115294	broad.mit.edu	37	8	52758239	52758239	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:52758238_52758238AT>A	uc003xqx.4	-	2	734	c.393_393AT>T	c.(391-393)aatfs	p.N131fs	PCMTD1_uc011ldn.2_5'UTR|PCMTD1_uc010lya.3_Intron|PCMTD1_uc011ldo.1_Frame_Shift_Del_p.N131fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	131						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AGCTATCACTATTTTTGATGA	0.333												
PRDM14	63978	broad.mit.edu	37	8	70981471	70981471	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:70981470_70981470AC>A	uc003xym.3	-	1	828	c.626_626GT>T	c.(625-627)gtcfs	p.V209fs		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G208R(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGGGAGTGACCCCGTACAG	0.592												
TRPA1	8989	broad.mit.edu	37	8	72958792	72958792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:72958791_72958791GT>G	uc003xza.3	-	16	2193	c.2018_2018AC>C	c.(2017-2019)acafs	p.T673fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269												
RALYL	138046	broad.mit.edu	37	8	85799997	85799997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:85799996_85799996TG>T	uc003yct.4	+	7	1016	c.882_882TG>T	c.(880-882)gatfs	p.D294fs	RALYL_uc003ycq.4_Frame_Shift_Del_p.D281fs|RALYL_uc003ycr.4_Frame_Shift_Del_p.D281fs|RALYL_uc003ycs.4_Frame_Shift_Del_p.D281fs|RALYL_uc010lzy.3_Frame_Shift_Del_p.D270fs|RALYL_uc003ycu.4_Frame_Shift_Del_p.D208fs	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	281							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCGATGAAGATGGGGGTCATG	0.453												
LRRCC1	85444	broad.mit.edu	37	8	86041489	86041489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:86041488_86041488TA>T	uc003ycw.3	+	9	1708	c.1500_1500TA>T	c.(1498-1500)attfs	p.I500fs	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Frame_Shift_Del_p.I407fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.I201fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.I480fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	500					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAATGAAATTAAAAAACTGA	0.323												
SLC26A7	115111	broad.mit.edu	37	8	92406218	92406218	+	Frame_Shift_Del	DEL	T	T	-	rs149495064		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:92406217_92406217AT>A	uc003yez.3	+	17	2124	c.1885_1885AT>A	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Del_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Del_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGA	0.338												
RBM12B	389677	broad.mit.edu	37	8	94746312	94746312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:94746311_94746311CG>C	uc022aye.1	-	0	2328	c.2328_2328CG>G	c.(2326-2328)ccgfs	p.P776fs	RBM12B_uc003yfz.3_Frame_Shift_Del_p.P776fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	776							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAAGTGCTCCGGGGGCGGGC	0.662												
RGS22	26166	broad.mit.edu	37	8	101018269	101018270	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:101018268_101018269CTT>C	uc003yjb.1	-	15	2625_2626	c.2430_2431AAG>G	c.(2428-2433)aaagagfs	p.K810fs	RGS22_uc003yja.1_Frame_Shift_Del_p.K629fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.K798fs|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Frame_Shift_Del_p.K199fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	810					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E811D(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAAATGTCTCTTTATGCAAAG	0.396												
ZFAT	57623	broad.mit.edu	37	8	135612914	135612914	+	Splice_Site	DEL	A	A	-	rs35184160		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:135612913_135612913TA>T	uc003yup.3	-	7	2429	c.2243_splice	c.e7-1	p.G748_splice	ZFAT_uc003yun.3_Splice_Site_p.G736_splice|ZFAT_uc003yuo.3_Splice_Site_p.G736_splice|ZFAT_uc010meh.3_Splice_Site_p.G736_splice|ZFAT_uc010mej.3_Splice_Site_p.G686_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G736_splice|ZFAT_uc003yur.3_Intron|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAAGTTTGCCTAAAAAAATAT	0.318												
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr8:144890899_144890901TTCC>T	uc003yzp.1	-	14	2000_2002	c.1993_1995GGAA>A	c.(1993-1995)gaa>A	p.E666del	SCRIB_uc003yzo.1_In_Frame_Del_p.E666del	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	666	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			gactaccctcttcctcctcctcc	0.665												
DOCK8	81704	broad.mit.edu	37	9	405015	405016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:405014_405015C>CT	uc003zgf.2	+	26	3443_3444	c.3331_3332C>CT	c.(3331-3333)cttfs	p.L1111fs	DOCK8_uc022bcu.1_Frame_Shift_Ins_p.L1043fs|DOCK8_uc010mgv.3_Frame_Shift_Ins_p.L1011fs|DOCK8_uc010mgu.3_Frame_Shift_Ins_p.L413fs|DOCK8_uc010mgw.2_Frame_Shift_Ins_p.L413fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.L569fs	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATCTGAACCTTTTTTTTATG	0.396												
PSIP1	11168	broad.mit.edu	37	9	15490046	15490050	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:15490045_15490049CCTTTT>C	uc003zlv.4	-	3	553_557	c.223_227AAAAGG>G	c.(223-228)aaaggtfs	p.K75fs	PSIP1_uc003zlw.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zlz.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zma.4_Frame_Shift_Del_p.K75fs|PSIP1_uc003zly.3_Frame_Shift_Del_p.K75fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	75					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCATTAAAACCTTTTCTTTTATTT	0.288												
DNAJA1	3301	broad.mit.edu	37	9	33026949	33026949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:33026948_33026948GT>G	uc003zsd.1	+	2	453	c.270_270GT>G	c.(268-270)atgfs	p.M90fs	DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Frame_Shift_Del_p.M90fs	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	90	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TCTTTGATATGTTTTTTGGAG	0.443												
OMD	4958	broad.mit.edu	37	9	95179830	95179830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:95179829_95179829TA>T	uc004asd.4	-	1	381	c.12_12TA>A	c.(10-12)ttafs	p.L4fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron	NM_005014	NP_005005	Q99983	OMD_HUMAN	Homo sapiens osteomodulin (OMD), mRNA.	4					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATATTGGACTTAAAAAACCCA	0.333			T	USP6	aneurysmal bone cysts							
FAM22G	441457	broad.mit.edu	37	9	99699450	99699450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:99699449_99699449GC>G	uc022bkp.1	+	4	1107	c.1086_1086GC>G	c.(1084-1086)aggfs	p.R362fs	FAM22G_uc004awq.2_Frame_Shift_Del_p.R362fs	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				CACCACCCAGGCCCCCGAGGC	0.672												
SUSD1	64420	broad.mit.edu	37	9	114825229	114825229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:114825228_114825228AT>A	uc010mui.3	-	12	1880	c.1839_1839AT>T	c.(1837-1839)aatfs	p.N613fs	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Frame_Shift_Del_p.N613fs|SUSD1_uc010muj.3_Frame_Shift_Del_p.N613fs			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	613						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGATTGGTCCATTTTTCTCCT	0.488												
GAPVD1	26130	broad.mit.edu	37	9	128116933	128116933	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:128116932_128116932GA>G	uc004bpp.3	+	23	3811	c.3651_splice	c.e23-1	p.R1217_splice	GAPVD1_uc004bpq.3_Splice_Site_p.R1190_splice|GAPVD1_uc010mwx.3_Splice_Site_p.R1208_splice|GAPVD1_uc004bpr.3_Splice_Site_p.R1169_splice|GAPVD1_uc004bps.3_Splice_Site_p.R1163_splice|GAPVD1_uc004bpt.3_Splice_Site_p.R223_splice	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1208					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTTTAGAAAAAGAGCC	0.393												
FAM125B	89853	broad.mit.edu	37	9	129157961	129157961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:129157960_129157960GC>G	uc004bqh.2	+	5	732	c.646_646GC>G	c.(646-648)gccfs	p.A216fs	FAM125B_uc004bqg.2_Frame_Shift_Del_p.A216fs|FAM125B_uc011lzy.2_Frame_Shift_Del_p.A201fs|FAM125B_uc010mxd.3_Frame_Shift_Del_p.A209fs|FAM125B_uc011lzz.1_Frame_Shift_Del_p.A209fs	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	216					protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						CTCCACCCCAGCCCCCAACCT	0.542												
ODF2	4957	broad.mit.edu	37	9	131222909	131222909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:131222908_131222908TA>T	uc004bvc.3	+	2	421	c.335_335TA>T	c.(334-336)atafs	p.I112fs	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Frame_Shift_Del_p.I24fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.I24fs|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Frame_Shift_Del_p.I24fs|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Frame_Shift_Del_p.I24fs|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CACGTCCACATAAAAAAACTC	0.567												
LAMC3	10319	broad.mit.edu	37	9	133927940	133927940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:133927939_133927939GC>G	uc004caa.1	+	9	1790	c.1692_1692GC>G	c.(1690-1692)gtgfs	p.V564fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	564	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTTCCGGGTGCCCCCCGGGG	0.607											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAN1B1	11253	broad.mit.edu	37	9	139995548	139995548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:139995547_139995547TG>T	uc004cld.2	+	6	1042	c.1007_1007TG>T	c.(1006-1008)ctgfs	p.L336fs	MAN1B1_uc004clc.2_Frame_Shift_Del_p.L237fs|MAN1B1_uc011meo.1_Frame_Shift_Del_p.L237fs|MAN1B1_uc011mep.2_Frame_Shift_Del_p.L336fs|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	336					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTC	0.542												
CACNA1B	774	broad.mit.edu	37	9	141016157	141016157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr9:141016156_141016156AC>A	uc004cog.3	+	45	6864	c.6719_6719AC>A	c.(6718-6720)gacfs	p.D2240fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.T2178fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.D1454fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2242					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCAGAGAGACCCCCTCAGC	0.672												
CDNF	441549	broad.mit.edu	37	10	14862077	14862078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:14862076_14862077T>TC	uc001inb.1	-	3	504_505	c.466_467A>GA	c.(466-468)gagfs	p.E156fs	CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Frame_Shift_Ins_p.E47fs	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	Homo sapiens cerebral dopamine neurotrophic factor (CDNF), mRNA.	156						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CCTGCACTCCTCCCCCCAGCTA	0.495												
GAD2	2572	broad.mit.edu	37	10	26581462	26581462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:26581461_26581461TA>T	uc001isp.2	+	13	1957	c.1454_1454TA>T	c.(1453-1455)atafs	p.I485fs	GAD2_uc001isq.2_Frame_Shift_Del_p.I485fs	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	485					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I484I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TACAACATCATAAAAAACCGA	0.398												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCACCACCATCCCCCCCTGG	0.527												
BTAF1	9044	broad.mit.edu	37	10	93748921	93748921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:93748920_93748920GT>G	uc001khr.3	+	19	2535	c.2437_2437GT>G	c.(2437-2439)gttfs	p.V813fs	BTAF1_uc001khs.1_Frame_Shift_Del_p.V483fs|BTAF1_uc001kht.1_Frame_Shift_Del_p.V251fs	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	813					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGTCACTACTGTTTTTAATGA	0.338												
ENTPD7	57089	broad.mit.edu	37	10	101458541	101458541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:101458540_101458540GT>G	uc009xwl.3	+	10	1621	c.1266_1266GT>G	c.(1264-1266)gagfs	p.E422fs	ENTPD7_uc001kqa.4_Frame_Shift_Del_p.E420fs	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	420						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCTTCTCTGAGTTTTTTTATT	0.488												
SMC3	9126	broad.mit.edu	37	10	112356188	112356189	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:112356187_112356188T>TG	uc001kze.3	+	18	2121_2122	c.1995_1996T>TG	c.(1993-1998)actgggfs	p.T665fs		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	665	Flexible hinge.				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGCTCTAACTGGGGGTTATTA	0.351												
NHLRC2	374354	broad.mit.edu	37	10	115662308	115662308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:115662307_115662307CA>C	uc001lax.2	+	7	1690	c.1449_1449CA>C	c.(1447-1449)gacfs	p.D483fs	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	483					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TAACATGGGACAAAAAAAGGA	0.323												
PDZD8	118987	broad.mit.edu	37	10	119044331	119044331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:119044330_119044330AT>A	uc001lde.1	-	4	2113	c.1914_1914AT>T	c.(1912-1914)aatfs	p.N638fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	638					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGGCATCCACATTTTTTGCTT	0.448												
CHST15	51363	broad.mit.edu	37	10	125805647	125805647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr10:125805646_125805646TG>T	uc001lhn.3	-	1	817	c.83_83CA>A	c.(82-84)catfs	p.H28fs	CHST15_uc001lhm.3_Frame_Shift_Del_p.H28fs|CHST15_uc010que.2_Frame_Shift_Del_p.H28fs|CHST15_uc001lho.3_Frame_Shift_Del_p.H28fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	28					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGACCGTGATGGGGGCCCCC	0.547												
PHRF1	57661	broad.mit.edu	37	11	607110	607112	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:607109_607111GGAA>G	uc001lqe.3	+	13	1784_1786	c.1653_1655GGAA>G	c.(1651-1656)ggggaa>ggGa	p.E553del	PHRF1_uc010qwc.2_In_Frame_Del_p.E552del|PHRF1_uc010qwd.2_In_Frame_Del_p.E551del|PHRF1_uc010qwe.2_In_Frame_Del_p.E549del|PHRF1_uc009ybz.1_In_Frame_Del_p.E343del|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	553							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGTCCAGAGGGGAAGAAGGATTC	0.547												
MUC6	4588	broad.mit.edu	37	11	1015927	1015927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:1015926_1015926AC>A	uc001lsw.2	-	30	6926	c.6875_6875GT>T	c.(6874-6876)gtgfs	p.V2292fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2292	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATACCCGTCACCCCCGAGGT	0.627												
UBQLN3	50613	broad.mit.edu	37	11	5529729	5529729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:5529728_5529728TG>T	uc021qcw.1	-	0	1061	c.1061_1061CA>A	c.(1060-1062)cagfs	p.Q354fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.Q354fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	354										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTAGGGACTGGGGGTTCTC	0.488												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs143767864	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587												
PIK3C2A	5286	broad.mit.edu	37	11	17112907	17112908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:17112906_17112907G>GT	uc001mmq.4	-	30	4917_4918	c.4852_4853C>AC	c.(4852-4854)acgfs	p.T1618fs	PIK3C2A_uc009ygu.1_Frame_Shift_Ins_p.T221fs|PIK3C2A_uc010rcw.2_Frame_Shift_Ins_p.T1238fs|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1618	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CGGATTCCTCGTTTTTCGTGAA	0.332												
MRGPRX1	259249	broad.mit.edu	37	11	18955770	18955771	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:18955769_18955770CAT>C	uc001mpg.3	-	0	780_781	c.562_563ATG>G	c.(562-564)tgtfs	p.C188fs		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	188					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAACCACACATAAAAAAATC	0.510												
SPI1	6688	broad.mit.edu	37	11	47399861	47399862	+	Splice_Site	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:47399860_47399861A>AG	uc001nfb.1	-	1	268	c.45_splice	c.e1+1	p.P15_splice	SPI1_uc001nfc.1_Splice_Site_p.P15_splice|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Splice_Site_p.P9_splice	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	15					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CGGTACTCACAGGGGGGACGAG	0.683												
TNKS1BP1	85456	broad.mit.edu	37	11	57077906	57077906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57077905_57077905AC>A	uc001njr.3	-	4	2592	c.2280_2280GT>T	c.(2278-2280)ggtfs	p.G760fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G760fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.G211fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	760	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TAGGGCTTGCACCCCCAAGGC	0.592												
PRG3	10394	broad.mit.edu	37	11	57147266	57147266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:57147265_57147265TG>T	uc001njv.2	-	2	187	c.77_77CA>A	c.(76-78)catfs	p.H26fs		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	26					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCTCCAGATGGGGGGCATC	0.557												
ZP1	22917	broad.mit.edu	37	11	60637322	60637322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:60637321_60637321AC>A	uc001nqd.3	+	2	650	c.630_630AC>A	c.(628-630)caafs	p.Q210fs	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	210					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTGGCTCAACCCCACTGGG	0.582												
MAP4K2	5871	broad.mit.edu	37	11	64569203	64569204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64569202_64569203T>TC	uc001obh.3	-	5	485_486	c.393_394A>GA	c.(391-396)gggaagfs	p.G131fs	MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G131fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	131	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CTGTGGATCTTCCCCTGAGAAT	0.629											OREG0004013	type=REGULATORY REGION|Gene=AF161342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CDCA5	113130	broad.mit.edu	37	11	64851183	64851183	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64851182_64851182TG>T	uc001ocp.2	-	1	225	c.60_60CA>A	c.(58-60)ccafs	p.P20fs	ZFPL1_uc009yqa.3_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.2_5'Flank	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	20					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TAGTAGGAGATGGGGCCCTTG	0.532												
C11orf2	738	broad.mit.edu	37	11	64876853	64876853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:64876852_64876852AG>A	uc001ocr.1	+	5	1584	c.1544_1544AG>A	c.(1543-1545)aagfs	p.K515fs	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Frame_Shift_Del_p.K391fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	515					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CCTGGGGAGAAGGGGGGTGCC	0.622												
PCNXL3	399909	broad.mit.edu	37	11	65386239	65386239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:65386238_65386238AG>A	uc001oey.2	+	5	1405	c.1405_1405AG>A	c.(1405-1407)aggfs	p.R469fs		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	469						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCGGAAGCGGAGGGCCCCCCA	0.662												
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:66055104_66055104CG>C	uc001ohk.4	-	3	574	c.392_392CG>G	c.(391-393)cggfs	p.R131fs	YIF1A_uc009yrc.3_Frame_Shift_Del_p.R96fs	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	131					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane		p.R131L(2)|p.P130P(1)|p.P130R(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAG	0.622												
MYO7A	4647	broad.mit.edu	37	11	76867058	76867058	+	Frame_Shift_Del	DEL	C	C	-	rs111033187		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:76867057_76867057GC>G	uc001oyb.2	+	4	662	c.390_390GC>G	c.(388-390)atgfs	p.M130fs	MYO7A_uc010rsl.2_Frame_Shift_Del_p.M130fs|MYO7A_uc010rsm.1_Frame_Shift_Del_p.M119fs|MYO7A_uc001oyc.2_Frame_Shift_Del_p.M130fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	130	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			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						TTGGGGAGATGCCCCCCCACA	0.562												
C11orf67	28971	broad.mit.edu	37	11	77553633	77553633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:77553632_77553632AG>A	uc001oyq.3	+	1	188	c.90_90AG>A	c.(88-90)ccafs	p.P30fs	C11orf67_uc001oyp.3_Frame_Shift_Del_p.P30fs|C11orf67_uc001oyr.1_Frame_Shift_Del_p.P30fs	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	30										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			AAGTATGGCCAGGGGGTAGTC	0.428												
ODZ4	26011	broad.mit.edu	37	11	78413022	78413023	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:78413021_78413022G>GCA	uc001ozl.4	-	27	5099_5100	c.4636_4637C>TGC	c.(4636-4638)gctfs	p.A1546fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1546					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTCCCCATCAGCACACACAGCC	0.470												
CUL5	8065	broad.mit.edu	37	11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:107965657_107965657CA>C	uc001pjv.3	+	14	2353	c.1686_1686CA>C	c.(1684-1686)tacfs	p.Y562fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	562					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAGAATTCTACAAAAAAAATC	0.368												
AMICA1	120425	broad.mit.edu	37	11	118065068	118065068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:118065067_118065067TC>T	uc001psk.2	-	9	1332	c.1158_1158GA>A	c.(1156-1158)ggafs	p.G386fs	AMICA1_uc001psg.2_Frame_Shift_Del_p.G196fs|AMICA1_uc001psh.2_Frame_Shift_Del_p.G347fs|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Frame_Shift_Del_p.G376fs|AMICA1_uc010rxw.1_Frame_Shift_Del_p.G347fs	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	386					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		TTTTTGGCATTCCCCCACCTG	0.507												
C1QTNF5	114902	broad.mit.edu	37	11	119216273	119216273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:119216272_119216272TG>T	uc010rzg.1	-	4	659	c.499_499CA>A	c.(499-501)aacfs	p.N167fs	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	167	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTGGGTGTTGGGGGGGTAA	0.567												
GRIK4	2900	broad.mit.edu	37	11	120827592	120827592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:120827591_120827591CG>C	uc001pxn.2	+	15	2090	c.1803_1803CG>C	c.(1801-1803)gtcfs	p.V601fs	GRIK4_uc009zav.1_Frame_Shift_Del_p.V601fs|GRIK4_uc009zaw.1_Frame_Shift_Del_p.V601fs|GRIK4_uc009zax.1_Frame_Shift_Del_p.V601fs	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	601					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		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)	GGTTTCCGGTCGGGGGGTTCA	0.647												
IGSF9B	22997	broad.mit.edu	37	11	133790374	133790374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr11:133790373_133790373TG>T	uc001qgx.4	-	17	3478	c.3247_3247CA>A	c.(3247-3249)accfs	p.T1083fs		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1083	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	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)		TGCAGGGAGGTGGGGGGCAGT	0.716												
ITPR2	3709	broad.mit.edu	37	12	26775327	26775328	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:26775326_26775327A>AT	uc001rhg.3	-	24	3551_3552	c.3134_3135T>AT	c.(3133-3135)aatfs	p.N1045fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1045					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTTGAACTGGATTTTTTTCTTT	0.396												
RPAP3	79657	broad.mit.edu	37	12	48084302	48084302	+	Splice_Site	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:48084301_48084301CT>C	uc001rpr.3	-	6	783	c.667_splice	c.e6+1	p.D223_splice	RPAP3_uc010slk.2_Splice_Site_p.D64_splice|RPAP3_uc001rps.3_Splice_Site_p.D223_splice	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	223							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TAGAAAATACCTTTTTTGGCC	0.363												
RND1	27289	broad.mit.edu	37	12	49259529	49259530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49259528_49259529T>TG	uc001rsn.3	-	0	125_126	c.22_23A>CA	c.(22-24)cagfs	p.Q8fs		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	8					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CACGACTGGCTGGGGGGCCCGT	0.589												
MLL2	8085	broad.mit.edu	37	12	49440135	49440136	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:49440134_49440135AGT>A	uc001rta.4	-	15	4491_4492	c.4491_4492ACT>T	c.(4489-4494)cactgtfs	p.H1497fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1497	Cys-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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGGCCCACAGTGTGTGTAAC	0.535			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SPRYD3	84926	broad.mit.edu	37	12	53460136	53460137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:53460135_53460136T>TC	uc001sbt.2	-	9	1243_1244	c.1156_1157A>GA	c.(1156-1158)gaafs	p.E386fs		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	386	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTCTATctcttccccatcctct	0.584											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NEUROD4	58158	broad.mit.edu	37	12	55421128	55421128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:55421127_55421127AC>A	uc001sgp.4	+	1	1282	c.904_904AC>A	c.(904-906)accfs	p.T302fs	NEUROD4_uc021qyr.1_Frame_Shift_Del_p.T302fs	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTA	0.468												
SLC39A5	283375	broad.mit.edu	37	12	56630390	56630392	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56630389_56630391GAGA>G	uc010sqj.2	+	9	1323_1325	c.1066_1068GAGA>G	c.(1066-1068)gag>G	p.E356del	SLC39A5_uc010sqk.2_In_Frame_Del_p.E356del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	356					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCCAGAGGGAGAAGAACAGCC	0.591												
ANKRD52	283373	broad.mit.edu	37	12	56638574	56638574	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:56638573_56638573AG>A	uc001skm.4	-	23	2675	c.2585_2585CT>T	c.(2584-2586)cttfs	p.L862fs		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	862							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCGGCGTGAAGGGGGGTCCT	0.577												
PPM1H	57460	broad.mit.edu	37	12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGAAGCGTGTGGGGGGCGTG	0.642												
GRIP1	23426	broad.mit.edu	37	12	66849209	66849209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:66849208_66849208CT>C	uc001stk.3	-	9	1420	c.1179_1179AG>G	c.(1177-1179)aagfs	p.K393fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.K337fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.K175fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.K393fs|GRIP1_uc001stl.1_Intron	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	445					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGAAGTCTTTCTTTTTCAGTC	0.483												
GALNT4	8693	broad.mit.edu	37	12	89917838	89917840	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:89917837_89917839CAGG>C	uc001tbd.3	-	0	745_747	c.488_490CCTG>G	c.(487-492)cctgca>cGca	p.163_164PA>R	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_In_Frame_Del_p.160_161PA>R|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	163	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAAGAACTGCAGGAGAAGTTTC	0.399											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACACB	32	broad.mit.edu	37	12	109604775	109604775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:109604774_109604774TG>T	uc001tob.3	+	2	881	c.762_762TG>T	c.(760-762)tttfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Del_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					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	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCACACGCTTTGGGGGGGATC	0.617												
ALDH2	217	broad.mit.edu	37	12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112229926_112229926TG>T	uc001tst.3	+	7	953	c.857_857TG>T	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Del_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAG	0.572			T	HMGA2	leiomyoma							
C12orf51	283450	broad.mit.edu	37	12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629												
CCDC60	160777	broad.mit.edu	37	12	119942961	119942961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:119942960_119942960TG>T	uc001txe.3	+	6	1200	c.735_735TG>T	c.(733-735)agtfs	p.S245fs	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	245										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCGGGCCAGTGGGGGGTCCT	0.562												
KDM2B	84678	broad.mit.edu	37	12	121880281	121880281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:121880280_121880280CG>C	uc001uat.3	-	18	3068	c.2964_2964CG>G	c.(2962-2964)ccgfs	p.P988fs	KDM2B_uc010szy.2_Frame_Shift_Del_p.P428fs|KDM2B_uc001uaq.3_Frame_Shift_Del_p.P428fs|KDM2B_uc001uar.3_Frame_Shift_Del_p.P579fs|KDM2B_uc001uas.3_Frame_Shift_Del_p.P919fs|KDM2B_uc021rfd.1_Frame_Shift_Del_p.P919fs|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Frame_Shift_Del_p.P988fs|KDM2B_uc001uao.3_Frame_Shift_Del_p.P236fs|KDM2B_uc010szx.2_Frame_Shift_Del_p.P236fs|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	988					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGCAGATGCCCGGGGGCCGCT	0.711												
KDM2B	84678	broad.mit.edu	37	12	122018773	122018773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122018772_122018772TG>T	uc001uat.3	-	0	149	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	KDM2B_uc001uas.3_5'Flank|KDM2B_uc021rfd.1_5'Flank|KDM2B_uc001uau.3_5'UTR|KDM2B_uc021rfe.1_Frame_Shift_Del_p.P15fs|KDM2B_uc001uav.4_Frame_Shift_Del_p.P15fs	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	15					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCTTTTTCGTGGGGGGTGAT	0.483												
CLIP1	6249	broad.mit.edu	37	12	122812631	122812632	+	Frame_Shift_Ins	INS	-	-	T	rs145767151		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:122812630_122812631G>GT	uc001ucg.2	-	16	3267_3268	c.3112_3113C>AC	c.(3112-3114)accfs	p.T1038fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.T1027fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.T992fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.T613fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1038					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	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)		TTCATGCTTGGTTTTTGTCTCA	0.525												
RSRC2	65117	broad.mit.edu	37	12	123006781	123006781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:123006780_123006780CT>C	uc001ucr.3	-	1	233	c.73_73AG>G	c.(73-75)gagfs	p.E25fs	RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_5'UTR|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_5'UTR|RSRC2_uc021rfm.1_Frame_Shift_Del_p.E25fs	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA.	25										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTGACTGCTCTTTTTTCTTA	0.358												
POLE	5426	broad.mit.edu	37	12	133219487	133219487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr12:133219486_133219486TG>T	uc001uks.1	-	35	4692	c.4648_4648CA>A	c.(4648-4650)aaafs	p.K1550fs	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.K354fs|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1550					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|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	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)		AAGGTGTGTTTGGGGGGTGGC	0.607								DNA polymerases (catalytic subunits)				
BRCA2	675	broad.mit.edu	37	13	32972893	32972893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:32972892_32972892TA>T	uc001uub.1	+	26	10469	c.10242_10242TA>T	c.(10240-10242)actfs	p.T3414fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3414					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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		CAATTACAACTAAAAAATATA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
DIAPH3	81624	broad.mit.edu	37	13	60385030	60385030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:60385029_60385029CT>C	uc001vht.3	-	24	3275	c.3056_3056AG>G	c.(3055-3057)agafs	p.R1019fs	DIAPH3_uc001vhu.3_Frame_Shift_Del_p.R756fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1019	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCTGCTTCTCTTTTTTTGAT	0.318												
DCT	1638	broad.mit.edu	37	13	95121040	95121041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:95121039_95121040C>CA	uc010afh.3	-	1	982_983	c.555_556G>TG	c.(553-558)tttgtgfs	p.F185fs	DCT_uc001vlv.4_Frame_Shift_Ins_p.F185fs	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	185					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGGAGCCACACAAAAAAATCAT	0.450												
FAM155A	728215	broad.mit.edu	37	13	108518350	108518350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr13:108518349_108518349GC>G	uc001vql.3	-	0	1112	c.596_596GC>C	c.(595-597)gcgfs	p.A199fs		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	199						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCCCCGGCCGCCCCCCGACT	0.622												
CHD8	57680	broad.mit.edu	37	14	21883981	21883982	+	In_Frame_Ins	INS	-	-	TCT			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:21883980_21883981C>CTCT	uc001war.2	-	4	1867_1868	c.1802_1803G>AGAG	c.(1801-1803)gag>gAGAG	p.E601E	CHD8_uc001was.2_In_Frame_Ins_p.E322E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTACATCCACCTCTTCTTCTTC	0.436												
FOXA1	3169	broad.mit.edu	37	14	38061905	38061907	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:38061904_38061906CGGA>C	uc001wuf.3	-	1	395_397	c.83_85TCCG>G	c.(82-87)tccgtc>tGtc	p.28_29SV>C	FOXA1_uc010tpz.2_5'UTR	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	28					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAGGC	0.635												
C14orf28	122525	broad.mit.edu	37	14	45369724	45369725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45369723_45369724T>TG	uc001wvo.3	+	1	351_352	c.85_86T>TG	c.(85-87)tggfs	p.W29fs	C14orf28_uc001wvp.1_Frame_Shift_Ins_p.W29fs	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376												
FAM179B	23116	broad.mit.edu	37	14	45431635	45431636	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45431634_45431635G>GC	uc001wvw.3	+	0	219_220	c.10_11G>GC	c.(10-12)gccfs	p.A4fs	FAM179B_uc001wvv.3_Frame_Shift_Ins_p.A4fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Ins_p.A4fs|FAM179B_uc001wvu.3_Frame_Shift_Ins_p.A4fs	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	4							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CATGGCGGCTGCCCCCTCCGCG	0.619												
FAM179B	23116	broad.mit.edu	37	14	45481239	45481240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:45481238_45481239G>GA	uc001wvw.3	+	6	3407_3408	c.3198_3199G>GA	c.(3196-3201)aagaaafs	p.K1066fs	FAM179B_uc001wvv.3_Frame_Shift_Ins_p.K1066fs|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1066	Ser-rich.						binding	p.K1066E(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTTCTGCAAAGAAAAAAATTTC	0.282												
DDHD1	80821	broad.mit.edu	37	14	53540568	53540568	+	Splice_Site	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313												
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632												
DHRS7	51635	broad.mit.edu	37	14	60616897	60616897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:60616896_60616896TA>T	uc001xes.3	-	4	827	c.643_643TA>A	c.(643-645)aatfs	p.N215fs	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.3_Frame_Shift_Del_p.N165fs	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7 (DHRS7), mRNA.	215							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CGAAGGCCATTAAAAAAACCC	0.343												
KCNH5	27133	broad.mit.edu	37	14	63417154	63417155	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:63417153_63417154AAC>A	uc001xfx.3	-	6	1117_1118	c.1066_1067GTT>T	c.(1066-1068)tttfs	p.F356fs	KCNH5_uc001xfy.3_Frame_Shift_Del_p.F356fs|KCNH5_uc001xfz.1_Frame_Shift_Del_p.F298fs|KCNH5_uc001xga.3_Frame_Shift_Del_p.F298fs	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACCAGTCCAAACACACACACC	0.510												
KCNK13	56659	broad.mit.edu	37	14	90651285	90651286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:90651284_90651285A>AG	uc001xye.1	+	1	1606_1607	c.1164_1165A>AG	c.(1162-1167)tcagggfs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G389W(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGGG	0.589												
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105174184_105174184GC>G	uc001ypb.2	+	7	1723	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.V530fs*50(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCACCTGCAGCCCCCCCGTG	0.721												
AHNAK2	113146	broad.mit.edu	37	14	105406621	105406621	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr14:105406620_105406620AC>A	uc010axc.1	-	6	15288	c.15168_15168GT>T	c.(15166-15168)ggtfs	p.G5056fs	AHNAK2_uc021sen.1_Frame_Shift_Del_p.G453fs|AHNAK2_uc021seo.1_Frame_Shift_Del_p.G54fs|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.G4956fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5056						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CTTGAAAGCTACCCCCTGCTG	0.552												
HERC2	8924	broad.mit.edu	37	15	28421671	28421672	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:28421670_28421671T>TG	uc001zbj.3	-	62	9695_9696	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3197					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCAATGTTCTGGGGAATGTTA	0.505												
CASC5	57082	broad.mit.edu	37	15	40915672	40915672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:40915671_40915671TA>T	uc010bbs.1	+	10	3448	c.3287_3287TA>T	c.(3286-3288)ctafs	p.L1096fs	CASC5_uc010ucq.1_Frame_Shift_Del_p.L920fs|CASC5_uc001zme.3_Frame_Shift_Del_p.L1070fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.L1070fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1096	2 X 104 AA approximate repeats.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGCCTTAAGCTAAAAAATGAC	0.353												
RPAP1	26015	broad.mit.edu	37	15	41815101	41815102	+	Frame_Shift_Ins	INS	-	-	G	rs150273751	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:41815100_41815101T>TG	uc001zod.3	-	18	2728_2729	c.2604_2605A>CA	c.(2602-2607)cccagcfs	p.P868fs		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	868	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACACGAGGCTGGGGGGAGCTT	0.634												
CEP152	22995	broad.mit.edu	37	15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:49036442_49036442AT>A	uc001zwz.3	-	23	4023	c.3830_3830AT>T	c.(3829-3831)attfs	p.I1277fs	CEP152_uc001zwy.3_Frame_Shift_Del_p.I1221fs|CEP152_uc001zxa.2_Frame_Shift_Del_p.I1184fs	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1221					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTACATTTAATTTTTTTTAC	0.398												
ZNF280D	54816	broad.mit.edu	37	15	56924285	56924285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:56924284_56924284AT>A	uc002adu.3	-	21	2569	c.2352_2352AT>T	c.(2350-2352)aatfs	p.N784fs	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Frame_Shift_Del_p.N771fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.N784fs|ZNF280D_uc002adt.3_Frame_Shift_Del_p.N25fs|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CATTACATCCATTTTTTTCTT	0.303												
IL16	3603	broad.mit.edu	37	15	81585324	81585325	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:81585323_81585324AAG>A	uc021ssh.1	+	10	1948_1949	c.1847_1848AAG>A	c.(1846-1848)gaafs	p.E616fs	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Intron|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.E658fs|IL16_uc021ssg.1_Frame_Shift_Del_p.E616fs|IL16_uc002bgg.3_Frame_Shift_Del_p.E616fs|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_Frame_Shift_Del_p.E110fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	616					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGAGTCTGGAAGAGAGAGAGA	0.505												
KIF7	374654	broad.mit.edu	37	15	90190147	90190148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:90190146_90190147A>AG	uc002bof.2	-	6	1779_1780	c.1702_1703T>CT	c.(1702-1704)ctgfs	p.L568fs	KIF7_uc010upw.1_Frame_Shift_Ins_p.L55fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	568					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCACCCCCCAGGGGGGCTGTA	0.688											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SELS	55829	broad.mit.edu	37	15	101816826	101816828	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr15:101816825_101816827GAGA>G	uc021sxu.1	-	1	208_210	c.130_132TCTC>C	c.(130-132)ctc>C	p.L44del	SELS_uc021sxv.1_In_Frame_Del_p.L44del	NM_203472		Q9BQE4	SELS_HUMAN	Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA.	44					ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding					Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGACCACGTAGAGAAGGATGCAG	0.507												
NPRL3	8131	broad.mit.edu	37	16	167321	167321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:167320_167320TA>T	uc002cfr.3	-	4	497	c.373_373TA>A	c.(373-375)aatfs	p.N125fs	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Frame_Shift_Del_p.N47fs|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	125							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						AACACCACATTAAAAAGAATC	0.413												
C16orf79	283870	broad.mit.edu	37	16	2259579	2259579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:2259578_2259578TG>T	uc010bsh.3	-	4	803	c.568_568CA>A	c.(568-570)atcfs	p.I190fs	C16orf79_uc002cpi.2_Frame_Shift_Del_p.I190fs	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	190	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						GCCCAGTAGATGGGGGTCCTC	0.692												
CLDN6	9074	broad.mit.edu	37	16	3065456	3065457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3065455_3065456A>AC	uc021tbb.1	-	0	567_568	c.567_568T>GT	c.(565-570)gggtccfs	p.G189fs	CLDN6_uc002csu.4_Frame_Shift_Ins_p.G189fs	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	189					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.G189R(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAGG	0.644												
ZNF434	54925	broad.mit.edu	37	16	3433031	3433032	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3433030_3433031CCA>C	uc002cux.4	-	6	2171_2172	c.1912_1913TGG>G	c.(1912-1914)gggfs	p.G638fs	ZNF434_uc010uwx.2_Frame_Shift_Del_p.G350fs|ZNF434_uc002cuy.4_Frame_Shift_Del_p.G350fs|ZNF434_uc002cuz.3_Frame_Shift_Del_p.G427fs	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGATTTTCCCACACACTGCA	0.505												
CREBBP	1387	broad.mit.edu	37	16	3817721	3817722	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATGGCCTACTTTTTTTGCGC	0.401			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
PPL	5493	broad.mit.edu	37	16	4944500	4944501	+	Frame_Shift_Ins	INS	-	-	G	rs147027769		TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:4944499_4944500T>TG	uc002cyd.1	-	11	1452_1453	c.1362_1363A>CA	c.(1360-1365)cccacafs	p.P454fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGTCTGTGGGGGGGATCA	0.609												
ACSM3	6296	broad.mit.edu	37	16	20807776	20807777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:20807775_20807776T>TA	uc010vba.2	+	12	1800_1801	c.1725_1726T>TA	c.(1723-1728)gttaaafs	p.V575fs	ERI2_uc002dht.3_3'UTR|ACSM3_uc002dhr.3_Frame_Shift_Ins_p.V546fs|ERI2_uc002dhs.3_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	546					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGGAGCATGTTAAAAAAACTAC	0.317												
AQP8	343	broad.mit.edu	37	16	25232875	25232875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:25232874_25232874CG>C	uc002doc.3	+	2	439	c.357_357CG>C	c.(355-357)ctcfs	p.L119fs		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	119					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGC	0.627												
C16orf53	79447	broad.mit.edu	37	16	29831021	29831021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:29831020_29831020GC>G	uc002dug.4	+	2	1029	c.710_710GC>G	c.(709-711)agcfs	p.S237fs	BOLA2_uc010bzb.1_Intron|BC029255_uc002duh.1_Intron|MVP_uc010bzh.2_5'Flank|MVP_uc010vdz.2_5'Flank|MVP_uc002dui.3_5'Flank|MVP_uc002duj.3_5'Flank	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	237										kidney(1)|lung(1)|prostate(1)	3						AGCCCCGCCAGCCCCCCACTC	0.622												
SRCAP	10847	broad.mit.edu	37	16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569												
NKD1	85407	broad.mit.edu	37	16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:50667134_50667135G>GC	uc002egg.2	+	9	1079_1080	c.855_856G>GC	c.(853-858)ctgcccfs	p.L285fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599												
RBL2	5934	broad.mit.edu	37	16	53476704	53476704	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:53476703_53476703AT>A	uc002ehi.4	+	2	623	c.505_505AT>A	c.(505-507)attfs	p.I169fs	RBL2_uc010vgv.1_Frame_Shift_Del_p.I95fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	169					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.P168L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATATGAACCCATTTTTCAGGA	0.413												
NUDT21	11051	broad.mit.edu	37	16	56485066	56485066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:56485065_56485065AC>A	uc002eja.3	-	0	197	c.50_50GT>T	c.(49-51)gtcfs	p.V17fs	OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	17	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GAACTGAGTGACCCCCCGGGG	0.647												
CTCF	10664	broad.mit.edu	37	16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475												
COG4	25839	broad.mit.edu	37	16	70543282	70543282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr16:70543281_70543281GC>G	uc002ezc.3	-	6	866	c.855_855GC>C	c.(853-855)cgcfs	p.R285fs	COG4_uc002ezd.3_Frame_Shift_Del_p.R285fs|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	281				T -> A (in Ref. 2; BAB14286).	Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTCCACAATGCGGGCAATCC	0.478												
GGT6	124975	broad.mit.edu	37	17	4461471	4461472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:4461470_4461471C>CT	uc010vsc.2	-	3	1399_1400	c.1339_1340G>AG	c.(1339-1341)aggfs	p.R447fs	MYBBP1A_uc002fxz.4_5'Flank|MYBBP1A_uc002fyb.4_5'Flank|GGT6_uc010vsb.2_Frame_Shift_Ins_p.R293fs|GGT6_uc002fyd.4_Frame_Shift_Ins_p.R441fs|GGT6_uc002fyc.4_Frame_Shift_Ins_p.R409fs	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	441					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGTAGGGGGCCTTGCTGCCAGA	0.624												
USP6	9098	broad.mit.edu	37	17	5049391	5049392	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:5049390_5049391T>TA	uc002gau.1	+	27	4470_4471	c.2240_2241T>TA	c.(2239-2241)ttafs	p.L747fs	USP6_uc002gav.1_Frame_Shift_Ins_p.L747fs|USP6_uc010ckz.1_Frame_Shift_Ins_p.L430fs	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	747					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TACACAGGTTTAAAAAAACAGC	0.351			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
NT5M	56953	broad.mit.edu	37	17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:17250189_17250189GC>G	uc002grf.3	+	4	800	c.615_615GC>G	c.(613-615)cagfs	p.Q205fs	NT5M_uc002grg.3_Frame_Shift_Del_p.Q211fs	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	205					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding	p.L204P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGCAGCTGCAGCCCCCCCGCC	0.672												
NLK	51701	broad.mit.edu	37	17	26449740	26449741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:26449739_26449740G>GT	uc010crj.3	+	1	781_782	c.569_570G>GT	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding	p.C190C(2)|p.C178C(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAGC	0.391												
PHF12	57649	broad.mit.edu	37	17	27233246	27233247	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:27233245_27233246TGA>T	uc002hdg.1	-	14	3500_3501	c.2970_2971TCA>A	c.(2968-2973)ctcaagfs	p.L990fs	PHF12_uc010wbb.1_Frame_Shift_Del_p.L972fs	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	990					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGGTGGGGCTTGAGAGAGAGCT	0.604												
TMEM132E	124842	broad.mit.edu	37	17	32953916	32953916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:32953915_32953915GC>G	uc002hif.3	+	2	895	c.567_567GC>G	c.(565-567)ccgfs	p.P189fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	189						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGTTCCGCCCGCCCCCCAGGA	0.736												
ETV4	2118	broad.mit.edu	37	17	41610701	41610702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:41610700_41610701T>TG	uc002idw.3	-	6	527_528	c.399_400A>CA	c.(397-402)cccagafs	p.P133fs	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Intron|ETV4_uc010czh.3_Frame_Shift_Ins_p.P132fs|ETV4_uc010wii.2_Frame_Shift_Ins_p.P94fs|ETV4_uc002idx.3_Frame_Shift_Ins_p.P133fs|ETV4_uc010wij.2_Frame_Shift_Ins_p.P94fs|ETV4_uc002idy.1_Frame_Shift_Ins_p.P94fs	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	133					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""							
KIF18B	146909	broad.mit.edu	37	17	43006220	43006220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:43006219_43006219GC>G	uc010wji.2	-	11	1828	c.1727_1727GC>C	c.(1726-1728)gcafs	p.A576fs	KIF18B_uc002iht.3_Frame_Shift_Del_p.A576fs|KIF18B_uc010wjh.2_Frame_Shift_Del_p.A564fs	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCCAGAGGTGCCCCCCTGGC	0.577												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	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												
VEZF1	7716	broad.mit.edu	37	17	56056587	56056588	+	In_Frame_Ins	INS	-	-	TGT			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56056586_56056587A>ATGT	uc002ivf.1	-	4	1207_1208	c.1064_1065T>ACAT	c.(1063-1065)cat>cACAT	p.H355H	VEZF1_uc010dcn.1_In_Frame_Ins_p.H205H	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	355					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
AXIN2	8313	broad.mit.edu	37	17	63532585	63532586	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:63532584_63532585G>GC	uc002jfi.3	-	7	2283_2284	c.1994_1995C>GC	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Ins_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
ABCA6	23460	broad.mit.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:67125766_67125766TA>T	uc002jhw.1	-	6	1093	c.918_918TA>A	c.(916-918)ttafs	p.L306fs		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	306					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAAGCCATATAAAAAAAAGA	0.303												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	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												
UNK	85451	broad.mit.edu	37	17	73780852	73780852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:73780851_73780851TG>T	uc002jpm.3	+	1	118	c.118_118TG>T	c.(118-120)tggfs	p.W40fs	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGCCGTGTGGGGGGTCTT	0.622												
CARD14	79092	broad.mit.edu	37	17	78172264	78172264	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr17:78172263_78172263AG>A	uc002jxw.1	+	12	1918	c.1724_1724AG>A	c.(1723-1725)cagfs	p.Q575fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Frame_Shift_Del_p.Q575fs|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Frame_Shift_Del_p.Q338fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	575	PDZ.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGCGTTCCAGGGGGATGCA	0.692												
EMILIN2	84034	broad.mit.edu	37	18	2913316	2913316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2913315_2913315TG>T	uc002kln.3	+	7	3234	c.3075_3075TG>T	c.(3073-3075)actfs	p.T1025fs		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	1025	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCGTGGTGACTGGGGGCAAGC	0.567												
LPIN2	9663	broad.mit.edu	37	18	2920395	2920395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:2920394_2920394AG>A	uc002klo.3	-	19	2827	c.2588_2588CT>T	c.(2587-2589)cttfs	p.L863fs		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	863					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTACTGAGAAGGGGGAACAC	0.537												
ATP8B1	5205	broad.mit.edu	37	18	55365040	55365041	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:55365039_55365040A>AT	uc002lgw.3	-	6	734_735	c.614_615T>AT	c.(613-615)aatfs	p.N205fs	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	205					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAACAAAATCATTTTTTTTCAG	0.386												
SERPINB12	89777	broad.mit.edu	37	18	61228376	61228377	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:61228375_61228376C>CA	uc010xeo.2	+	3	502_503	c.502_503C>CA	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Ins_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCCT	0.386												
TSHZ1	10194	broad.mit.edu	37	18	72998443	72998443	+	Frame_Shift_Del	DEL	C	C	-	rs149658226	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr18:72998442_72998442GC>G	uc002lly.3	+	1	1508	c.945_945GC>G	c.(943-945)gcgfs	p.A315fs	TSHZ1_uc021uln.1_Frame_Shift_Del_p.A315fs	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGACCTGGCGCCCCCCTGCT	0.597												
ILF3	3609	broad.mit.edu	37	19	10794195	10794196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:10794194_10794195A>AG	uc002mpn.3	+	14	2144_2145	c.1827_1828A>AG	c.(1825-1830)agagggfs	p.R609fs	ILF3_uc010xli.1_Frame_Shift_Ins_p.R207fs|ILF3_uc002mpm.2_Frame_Shift_Ins_p.R613fs|ILF3_uc002mpl.2_Frame_Shift_Ins_p.R609fs|ILF3_uc002mpk.2_Frame_Shift_Ins_p.R609fs|ILF3_uc002mpo.3_Frame_Shift_Ins_p.R613fs|ILF3_uc002mpp.3_Frame_Shift_Ins_p.R434fs|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	609	Interaction with PRMT1.				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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACCCGTCAGAGGGGGACCGAA	0.554												
ANO8	57719	broad.mit.edu	37	19	17435828	17435828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:17435827_17435827AG>A	uc002ngf.2	-	16	3189	c.3030_3030CT>T	c.(3028-3030)cctfs	p.P1010fs	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	1010						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GTGACTGGGCAGGGGGAGGCC	0.652												
CRTC1	23373	broad.mit.edu	37	19	18887993	18887994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:18887992_18887993T>TC	uc010ebv.3	+	14	1841_1842	c.1753_1754T>TC	c.(1753-1755)tccfs	p.S585fs	CRTC1_uc002nkb.4_Frame_Shift_Ins_p.S569fs|CRTC1_uc010ebw.3_Frame_Shift_Ins_p.S405fs	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	569					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:21992086_21992087A>AT	uc002nqj.3	-	3	882_883	c.752_753T>AT	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Ins_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Ins_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTATG	0.347												
SERTAD1	29950	broad.mit.edu	37	19	40929341	40929341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:40929340_40929340CG>C	uc002ont.4	-	1	273	c.114_114CG>G	c.(112-114)ccgfs	p.P38fs		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCACGGCCGGGGGTGCCT	0.642												
SNRPA	6626	broad.mit.edu	37	19	41265481	41265481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:41265480_41265480AC>A	uc002ooz.3	+	2	946	c.391_391AC>A	c.(391-393)accfs	p.T131fs		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	131						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGGGAGCCACCCCCGTGGT	0.672												
RTN2	6253	broad.mit.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918126	+	Splice_Site	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:47918125_47918125TG>T	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCAC	0.682												
ZNF749	388567	broad.mit.edu	37	19	57955160	57955161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr19:57955159_57955160C>CA	uc002qoq.2	+	2	897_898	c.643_644C>CA	c.(643-645)caafs	p.Q215fs		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		GTTTGAGCACCAAAAAACCCAT	0.446												
SMOX	54498	broad.mit.edu	37	20	4163028	4163029	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:4163027_4163028C>CG	uc002wkp.2	+	4	1102_1103	c.901_902C>CG	c.(901-903)cggfs	p.R301fs	SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Frame_Shift_Ins_p.R301fs|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Frame_Shift_Ins_p.R301fs	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673												
ESF1	51575	broad.mit.edu	37	20	13698067	13698067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:13698066_13698066CT>C	uc002woj.3	-	12	2319	c.2211_2211AG>G	c.(2209-2211)aagfs	p.K737fs		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	737	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GCTTTTTCTTCTTTTTGCTCA	0.393												
DSTN	11034	broad.mit.edu	37	20	17581680	17581681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:17581679_17581680G>GT	uc002wpr.3	+	1	555_556	c.300_301G>GT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356												
TRPC4AP	26133	broad.mit.edu	37	20	33591350	33591350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:33591349_33591349AG>A	uc002xbk.3	-	17	2154	c.2120_2120CT>T	c.(2119-2121)ctgfs	p.L707fs	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Frame_Shift_Del_p.L298fs|TRPC4AP_uc010zur.2_Frame_Shift_Del_p.L668fs|TRPC4AP_uc002xbl.3_Frame_Shift_Del_p.L699fs	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	707					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGCAGGTACAGGGGCAGCCG	0.627												
KCNK15	60598	broad.mit.edu	37	20	43379278	43379279	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:43379277_43379278G>GC	uc002xmr.3	+	1	855_856	c.791_792G>GC	c.(790-792)cgcfs	p.R264fs		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCCAgcccgcgccccccggggg	0.752												
DNTTIP1	116092	broad.mit.edu	37	20	44433957	44433957	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:44433956_44433956TG>T	uc002xpk.3	+	9	742	c.674_674TG>T	c.(673-675)atgfs	p.M225fs		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	225						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCCCTGGGGATGGGGGGCACC	0.507												
SS18L1	26039	broad.mit.edu	37	20	60747835	60747835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:60747834_60747834AC>A	uc011aaa.1	+	8	1068	c.1013_1013AC>A	c.(1012-1014)tacfs	p.Y338fs	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Frame_Shift_Del_p.Y338fs|SS18L1_uc002ycc.1_Non-coding_Transcript	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	338	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CAGCAGAGCTACCCCGGGCAG	0.687			T	SSX1	synovial sarcoma							
DIDO1	11083	broad.mit.edu	37	20	61512074	61512074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr20:61512073_61512073GC>G	uc002ydr.2	-	15	5547	c.5235_5235GC>C	c.(5233-5235)ggcfs	p.G1745fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.G1745fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1745	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGCTGAGAGCCCCCCACTT	0.682												
CLIC6	54102	broad.mit.edu	37	21	36081076	36081077	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:36081075_36081076T>TA	uc010gmt.1	+	4	1742_1743	c.1742_1743T>TA	c.(1741-1743)atafs	p.I581fs	CLIC6_uc002yuf.1_Frame_Shift_Ins_p.I563fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	581	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TCAGCGTTTATAAAAAACACGA	0.455												
DOPEY2	9980	broad.mit.edu	37	21	37650358	37650359	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr21:37650357_37650358G>GT	uc002yvg.3	+	28	5876_5877	c.5797_5798G>GT	c.(5797-5799)gttfs	p.V1933fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.V1882fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1933					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						GCTTTACTATGTTTTTCCATAC	0.426												
MN1	4330	broad.mit.edu	37	22	28196286	28196286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:28196285_28196285GC>G	uc003adj.3	-	0	1202	c.247_247GC>C	c.(247-249)ctgfs	p.L83fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	83							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCGCTTGCAGCCCCCCTGCG	0.672			T	ETV6	"""AML, meningioma"""							
TMPRSS6	164656	broad.mit.edu	37	22	37471323	37471323	+	Splice_Site	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:37471322_37471322TG>T	uc003aqt.1	-	11	1259	c.1197_splice	c.e11-1	p.R399_splice	TMPRSS6_uc003aqs.1_Splice_Site_p.R408_splice	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	408	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCACACAGCCTGGGGGGAGTC	0.662												
TRIOBP	11078	broad.mit.edu	37	22	38121772	38121772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:38121771_38121771GC>G	uc003atr.3	+	6	3479	c.3208_3208GC>G	c.(3208-3210)gccfs	p.A1070fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.A898fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A1070fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A898fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1070					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACCGAGATGCCCCCCGGGC	0.647												
MAPK8IP2	23542	broad.mit.edu	37	22	51044095	51044095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chr22:51044094_51044094CG>C	uc003bmx.3	+	7	2060	c.1943_1943CG>C	c.(1942-1944)acgfs	p.T648fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.T621fs|MAPK8IP2_uc011asc.2_Frame_Shift_Del_p.T3fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	649	SH3.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AACATGCGCACGGGGGAGCGC	0.647												
NR0B1	190	broad.mit.edu	37	X	30326975	30326975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:30326974_30326974GC>G	uc004dcf.4	-	0	522	c.507_507GC>C	c.(505-507)ggcfs	p.G169fs		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	169	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCCACCACGCGCCCCCTGGCC	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPGR	6103	broad.mit.edu	37	X	38144857	38144857	+	Frame_Shift_Del	DEL	T	T	-	rs12687163	byFrequency	TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:38144856_38144856GT>G	uc004ded.1	-	14	3564	c.3396_3396AC>C	c.(3394-3396)aacfs	p.N1132fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	0					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGATGGCCCGTTTTTTAAAA	0.378												
BCOR	54880	broad.mit.edu	37	X	39923087	39923088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:39923086_39923087G>GT	uc004den.4	-	7	3913_3914	c.3621_3622C>AC	c.(3619-3624)aaacaafs	p.K1207fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.K1173fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.K1155fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.K1173fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1207					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.K1173fs*31(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AAGTGGCGTTGTTTTTTAGGAT	0.505			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
TFE3	7030	broad.mit.edu	37	X	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:48887951_48887952T>TC	uc004dmb.3	-	9	1683_1684	c.1445_1446A>GA	c.(1444-1446)ggafs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""							
SHROOM4	57477	broad.mit.edu	37	X	50345634	50345635	+	Splice_Site	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:50345633_50345634C>CT	uc004dpe.2	-	7	3968	c.3942_splice	c.e7+1	p.K1314_splice	SHROOM4_uc004dpd.3_Splice_Site	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1314	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAAACTTTACCTTTTTTTGAGC	0.450												
NAP1L2	4674	broad.mit.edu	37	X	72433979	72433979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:72433978_72433978CT>C	uc004ebi.3	-	0	733	c.351_351AG>G	c.(349-351)aagfs	p.K117fs		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	117					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAGTTTGAAGCTTTTTAAGGG	0.383												
KIAA2022	340533	broad.mit.edu	37	X	73960658	73960658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:73960657_73960657TC>T	uc004eby.3	-	2	4352	c.3735_3735GA>A	c.(3733-3735)ggafs	p.G1245fs		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1245					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTTTGGCTTCCCCCACGGC	0.498												
NRK	203447	broad.mit.edu	37	X	105152923	105152924	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:105152922_105152923A>AG	uc004emd.3	+	12	1592_1593	c.1289_1290A>AG	c.(1288-1290)aagfs	p.K430fs	NRK_uc010npc.1_Frame_Shift_Ins_p.K98fs	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	430	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAGCCTCTAAAGGGGCAGGCTC	0.564										HNSCC(51;0.14)		
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:131762581_131762582C>CA	uc011mvd.1	-	5	2023_2024	c.1607_1608G>TG	c.(1606-1608)ttgfs	p.L536fs	HS6ST2_uc011mvb.1_Frame_Shift_Ins_p.L390fs|HS6ST2_uc011mvc.1_Frame_Shift_Ins_p.L350fs|HS6ST2_uc011mve.1_Frame_Shift_Ins_p.L496fs|HS6ST2_uc011mva.1_Frame_Shift_Ins_p.L222fs	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GATACCTCTGCAAAAAAAGGTC	0.450												
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537												
ATP11C	286410	broad.mit.edu	37	X	138864773	138864774	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4361-01A-01D-1158-08	TCGA-BR-4361-11A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77aa205-e68f-4aaf-9d3c-29c8f821aa26	53c89408-014c-4e0a-b04d-497c1ce75a51	g.chrX:138864772_138864773A>AT	uc004faz.3	-	17	1993_1994	c.1894_1895T>AT	c.(1894-1896)atgfs	p.M632fs	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Frame_Shift_Ins_p.M632fs	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	632					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			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACTTTTTCCATTTTTTCTTCT	0.332