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
CPSF3L	54973	broad.mit.edu	37	1	1248005	1248005	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1248005G>A	uc001aee.1	-	13	1428	c.1370C>T	c.(1369-1371)TCG>TTG	p.S457L	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.S463L|CPSF3L_uc009vjz.1_Missense_Mutation_p.S435L|CPSF3L_uc010nyj.1_Missense_Mutation_p.S428L|CPSF3L_uc001aeg.1_Missense_Mutation_p.S333L|CPSF3L_uc001aeh.1_Missense_Mutation_p.S356L|CPSF3L_uc001aei.1_Missense_Mutation_p.S359L|CPSF3L_uc001aej.1_Missense_Mutation_p.S284L|CPSF3L_uc001aek.1_Missense_Mutation_p.S199L	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	457						Golgi apparatus|nucleus	hydrolase 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;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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CAGCCCCAGCGAGATGCCTAC	0.692000												
GLTPD1	80772	broad.mit.edu	37	1	1262942	1262942	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1262942C>A	uc001aeo.2	+	3	859	c.444C>A	c.(442-444)GCC>GCA	p.A148A	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	148						cytoplasm	glycolipid binding|glycolipid transporter 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;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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTGGCCGCCTACCACCCCT	0.716000												
CCNL2	81669	broad.mit.edu	37	1	1326219	1326219	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:1326219G>A	uc001afi.2	-	6	718	c.686C>T	c.(685-687)ACC>ATC	p.T229I	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.T7I|CCNL2_uc001afg.1_Missense_Mutation_p.T7I|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	229	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(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)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GAAGACGTCGGTGCGAAGGCT	0.552000												
ESPN	83715	broad.mit.edu	37	1	6504723	6504723	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:6504723G>T	uc001amy.2	+	6	1341	c.1173G>T	c.(1171-1173)AAG>AAT	p.K391N		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	391					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGCATCAAGGGCCAGCACC	0.622000												
CAMTA1	23261	broad.mit.edu	37	1	7724488	7724488	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:7724488C>T	uc001aoi.2	+	9	2088	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	627					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)		CCCTCCCCGTCGAGCAGAACA	0.647000												
CAMTA1	23261	broad.mit.edu	37	1	7811260	7811260	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:7811260A>G	uc001aoi.2	+	20	4898	c.4691A>G	c.(4690-4692)TAC>TGC	p.Y1564C	CAMTA1_uc001aok.3_Missense_Mutation_p.Y607C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y527C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y154C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1564	IQ 1.				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)		CCCCTGCAGTACGCACTTTAT	0.483000												
GPR157	80045	broad.mit.edu	37	1	9165734	9165734	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:9165734C>T	uc001apq.1	-	3	746	c.603G>A	c.(601-603)ACG>ACA	p.T201T	GPR157_uc010oad.1_Intron	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	201	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAGAGTGCCGTGTGCTGTG	0.637000												
PIK3CD	5293	broad.mit.edu	37	1	9775947	9775947	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:9775947C>T	uc001aqb.3	+	5	619	c.411C>T	c.(409-411)AAC>AAT	p.N137N	PIK3CD_uc010oaf.1_Silent_p.N137N|PIK3CD_uc001aqe.3_Silent_p.N137N	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	137					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)		CAGAAGTGAACGACTTTCGCG	0.692000												
UBE4B	10277	broad.mit.edu	37	1	10195195	10195195	+	Silent	SNP	G	G	A	rs146689339		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:10195195G>A	uc001aqs.3	+	16	2888	c.2175G>A	c.(2173-2175)ACG>ACA	p.T725T	UBE4B_uc001aqr.3_Silent_p.T596T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T180T|UBE4B_uc001aqt.1_Silent_p.T65T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	725					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)		ATGATGAGACGCGTGTGAATG	0.443000												
C1orf127	148345	broad.mit.edu	37	1	11015224	11015224	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:11015224C>T	uc010oao.1	-	5	356	c.351G>A	c.(349-351)TCG>TCA	p.S117S	C1orf127_uc001arr.1_Silent_p.S99S|C1orf127_uc001ars.1_Silent_p.S117S	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	117										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTAAGACCTCCGACTCTGGCT	0.517000												
VPS13D	55187	broad.mit.edu	37	1	12353760	12353760	+	Missense_Mutation	SNP	C	C	T	rs140358420		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:12353760C>T	uc001atv.2	+	24	6173	c.6032C>T	c.(6031-6033)ACG>ATG	p.T2011M	VPS13D_uc001atw.2_Missense_Mutation_p.T2011M|VPS13D_uc001atx.2_Missense_Mutation_p.T1199M	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2011					protein localization					ovary(4)|pancreas(1)	5	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)		GAGGGGCAGACGGTAGGTAGC	0.507000												
PRDM2	7799	broad.mit.edu	37	1	14108436	14108436	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:14108436C>T	uc001avi.2	+	8	5002	c.4146C>T	c.(4144-4146)GGC>GGT	p.G1382G	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.G1382G|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.G1181G|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1382	Arg/Lys-rich (basic).					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)		CCAAAAATGGCGTGGTGGTTT	0.433000												
PLEKHM2	23207	broad.mit.edu	37	1	16060293	16060293	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16060293T>C	uc010obo.1	+	20	3151	c.2924T>C	c.(2923-2925)GTG>GCG	p.V975A	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	975					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCAACACAGGTGGACCTCCCC	0.627000												
HSPB7	27129	broad.mit.edu	37	1	16344393	16344393	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16344393G>A	uc001axo.2	-	1	893	c.66C>T	c.(64-66)TCC>TCT	p.S22S	HSPB7_uc001axp.2_Silent_p.S110S|HSPB7_uc001axq.2_Silent_p.S110S|HSPB7_uc001axr.2_Silent_p.S110S|HSPB7_uc001axs.2_Intron|CLCNKA_uc001axt.2_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	22	Required for localization to SC35 splicing speckles.|Poly-Ser.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		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;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		tggaagaggaggaggaagagg	0.527000												
CLCNKB	1188	broad.mit.edu	37	1	16378753	16378753	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16378753A>G	uc001axw.3	+	15	1549	c.1469A>G	c.(1468-1470)GAG>GGG	p.E490G	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.E490G|CLCNKB_uc001axy.3_Missense_Mutation_p.E321G	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	490	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCCTTCGAGGTGACCGGC	0.657000												
EPHA2	1969	broad.mit.edu	37	1	16464408	16464408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:16464408C>T	uc001aya.1	-	5	1389	c.1252G>A	c.(1252-1254)GTC>ATC	p.V418I	EPHA2_uc010oca.1_Missense_Mutation_p.V418I	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	418	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGCCTGAGACGCCATTGCGG	0.632000												
ATP13A2	23400	broad.mit.edu	37	1	17313685	17313685	+	Missense_Mutation	SNP	C	C	T	rs150748722		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:17313685C>T	uc001baa.2	-	26	3129	c.2939G>A	c.(2938-2940)CGC>CAC	p.R980H	ATP13A2_uc001azz.1_Missense_Mutation_p.R127H|ATP13A2_uc001bab.2_Missense_Mutation_p.R975H|ATP13A2_uc001bac.2_Missense_Mutation_p.R936H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	980	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGGCCCCGTGCGGCTCATGAG	0.672000												
TMCO4	255104	broad.mit.edu	37	1	20020975	20020975	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:20020975G>A	uc001bcn.2	-	15	1694	c.1452C>T	c.(1450-1452)CCC>CCT	p.P484P	TMCO4_uc001bcm.2_Silent_p.P315P|TMCO4_uc001bco.1_Silent_p.P484P|TMCO4_uc001bcp.1_Silent_p.P444P	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	484						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCAGCAGCACGGGCTGTAGGC	0.602000												
C1QA	712	broad.mit.edu	37	1	22964233	22964233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:22964233C>T	uc001bfy.2	+	2	209	c.124C>T	c.(124-126)CGG>TGG	p.R42W	C1QA_uc001bfz.2_Missense_Mutation_p.R42W	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	42	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	ACCTGGCAGACGGGGGCGGCC	0.662000												
C1QB	713	broad.mit.edu	37	1	22987549	22987549	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:22987549C>T	uc001bgd.2	+	3	564	c.432C>T	c.(430-432)CAC>CAT	p.H144H		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	144	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	GCTTCGACCACGTGATCACCA	0.567000												
EPHB2	2048	broad.mit.edu	37	1	23234598	23234598	+	Silent	SNP	G	G	A	rs147014777	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23234598G>A	uc009vqj.1	+	12	2434	c.2289G>A	c.(2287-2289)TCG>TCA	p.S763S	EPHB2_uc001bge.2_Silent_p.S764S|EPHB2_uc001bgf.2_Silent_p.S763S|EPHB2_uc010odu.1_Silent_p.S705S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	763	Cytoplasmic (Potential).|Protein kinase.				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)		GCAAGGTGTCGGACTTTGGGC	0.572000									Hereditary_Prostate_Cancer			
KDM1A	23028	broad.mit.edu	37	1	23382484	23382484	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23382484C>A	uc001bgi.2	+	6	1032	c.883C>A	c.(883-885)CGA>AGA	p.R295R	KDM1A_uc001bgj.2_Silent_p.R315R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	295	FAD (Potential).				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						GGCAGCAGCTCGACAGTTACA	0.368000												
E2F2	1870	broad.mit.edu	37	1	23845545	23845545	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:23845545G>T	uc001bhe.1	-	5	1243	c.815C>A	c.(814-816)CCT>CAT	p.P272H		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	272	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CGTCTGCGGAGGGGCCTTGAC	0.567000												
MAN1C1	57134	broad.mit.edu	37	1	26073179	26073179	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26073179G>A	uc001bkm.2	+	3	988	c.658G>A	c.(658-660)GTC>ATC	p.V220I	MAN1C1_uc009vry.1_Missense_Mutation_p.V40I	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	220	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)		CGGGGCAACAGTCATTGACTC	0.592000												
C1orf135	79000	broad.mit.edu	37	1	26162205	26162205	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26162205G>T	uc001bkw.1	-	3	353	c.353C>A	c.(352-354)CCT>CAT	p.P118H		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	aurora A-binding protein	118											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)		AGTGGCTAAAGGGGATGCCAT	0.483000												
TRIM63	84676	broad.mit.edu	37	1	26385070	26385070	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26385070G>A	uc001bli.1	-	5	778	c.642C>T	c.(640-642)GAC>GAT	p.D214D		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	214	Interaction with TTN.|Potential.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CATACAACGTGTCAAACTTCT	0.512000												
ZNF683	257101	broad.mit.edu	37	1	26689609	26689609	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:26689609G>T	uc001bmg.1	-	5	1169	c.1051C>A	c.(1051-1053)CAG>AAG	p.Q351K	ZNF683_uc001bmh.1_Missense_Mutation_p.Q351K|ZNF683_uc009vsj.1_Missense_Mutation_p.Q351K	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	351	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AAGGCACACTGGAATGGACGC	0.607000												
PIGV	55650	broad.mit.edu	37	1	27124087	27124087	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27124087A>G	uc001bmz.2	+	4	1565	c.1234A>G	c.(1234-1236)ATT>GTT	p.I412V	PIGV_uc001bmy.2_Missense_Mutation_p.I177V|PIGV_uc009vso.2_Missense_Mutation_p.Y405C|PIGV_uc010ofg.1_Missense_Mutation_p.I177V|PIGV_uc001bna.2_Missense_Mutation_p.I412V	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	412	Lumenal (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)		CTCCACTCCTATTATGTACTG	0.488000												
C1orf172	126695	broad.mit.edu	37	1	27278207	27278207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27278207G>A	uc001bni.1	-	2	754	c.665C>T	c.(664-666)TCG>TTG	p.S222L		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	222										large_intestine(1)|ovary(1)	2		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)		GTCCAGGTCCGACTCATGGAA	0.577000												
WDTC1	23038	broad.mit.edu	37	1	27630202	27630202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27630202G>A	uc009vst.2	+	14	2094	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	WDTC1_uc001bno.2_Missense_Mutation_p.R519Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.R198Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	520							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ATGGTGCTGCGGGAGCGAAGC	0.612000												
SMPDL3B	27293	broad.mit.edu	37	1	28271805	28271805	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:28271805T>C	uc001bpg.2	+	2	315	c.124T>C	c.(124-126)TTC>CTC	p.F42L	SMPDL3B_uc001bpf.2_Missense_Mutation_p.F42L|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.F42L	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	42					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAAAGACCCCTTCCAGGTGTG	0.577000												
PTPRU	10076	broad.mit.edu	37	1	29609223	29609223	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:29609223G>A	uc001bru.2	+	12	2014	c.1904G>A	c.(1903-1905)CGG>CAG	p.R635Q	PTPRU_uc001brv.2_Missense_Mutation_p.R635Q|PTPRU_uc001brw.2_Missense_Mutation_p.R635Q|PTPRU_uc009vtq.2_Missense_Mutation_p.R635Q|PTPRU_uc009vtr.2_Missense_Mutation_p.R635Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	635	Extracellular (Potential).|Fibronectin type-III 4.				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)		GAGCGGGCGCGGAGGCTGCGG	0.622000												
PTPRU	10076	broad.mit.edu	37	1	29609286	29609286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:29609286C>T	uc001bru.2	+	12	2077	c.1967C>T	c.(1966-1968)GCG>GTG	p.A656V	PTPRU_uc001brv.2_Missense_Mutation_p.A656V|PTPRU_uc001brw.2_Missense_Mutation_p.A656V|PTPRU_uc009vtq.2_Missense_Mutation_p.A656V|PTPRU_uc009vtr.2_Missense_Mutation_p.A656V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	656	Extracellular (Potential).|Fibronectin type-III 4.				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)		TTCGAGGCGGCGCTGGCCCGA	0.657000												
BAI2	576	broad.mit.edu	37	1	32205105	32205105	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32205105T>G	uc001btn.2	-	15	2653	c.2299A>C	c.(2299-2301)AGC>CGC	p.S767R	BAI2_uc001btp.1_5'Flank|BAI2_uc010ogn.1_5'Flank|BAI2_uc010ogo.1_Missense_Mutation_p.S409R|BAI2_uc010ogp.1_Missense_Mutation_p.S700R|BAI2_uc010ogq.1_Missense_Mutation_p.S767R|BAI2_uc001bto.2_Missense_Mutation_p.S767R|BAI2_uc001btq.1_Missense_Mutation_p.S700R|BAI2_uc010ogr.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	767	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGGAGAGGCTGAGCACCTCC	0.692000												
BAI2	576	broad.mit.edu	37	1	32207266	32207266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32207266G>A	uc001btn.2	-	10	2000	c.1646C>T	c.(1645-1647)GCT>GTT	p.A549V	BAI2_uc010ogo.1_Missense_Mutation_p.A191V|BAI2_uc010ogp.1_Missense_Mutation_p.A482V|BAI2_uc010ogq.1_Missense_Mutation_p.A549V|BAI2_uc001bto.2_Missense_Mutation_p.A549V|BAI2_uc001btq.1_Missense_Mutation_p.A482V|BAI2_uc010ogr.1_Missense_Mutation_p.A482V	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	549	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GATCTCGCCAGCAGCTGCCTT	0.582000												
IQCC	55721	broad.mit.edu	37	1	32672208	32672208	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:32672208G>T	uc001bum.2	+	3	332	c.285G>T	c.(283-285)GAG>GAT	p.E95D	IQCC_uc009vua.2_Missense_Mutation_p.E175D|IQCC_uc010ogz.1_Translation_Start_Site|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	95										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGAGGGAGAGGCCACCTGGG	0.537000												
ZNF362	149076	broad.mit.edu	37	1	33745827	33745827	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33745827C>G	uc001bxc.1	+	5	622	c.452C>G	c.(451-453)ACC>AGC	p.T151S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCACCACCACCAGCCAGAGC	0.687000												
CSMD2	114784	broad.mit.edu	37	1	33985139	33985139	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33985139G>A	uc001bxn.1	-	69	10472	c.10443C>T	c.(10441-10443)AGC>AGT	p.S3481S	CSMD2_uc001bxm.1_Silent_p.S3625S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3481	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCACACTGTGCTGACTGTGA	0.622000												
CSMD2	114784	broad.mit.edu	37	1	34117960	34117960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:34117960C>T	uc001bxn.1	-	28	4458	c.4429G>A	c.(4429-4431)GTC>ATC	p.V1477I	CSMD2_uc001bxm.1_Missense_Mutation_p.V1517I|CSMD2_uc001bxo.1_Missense_Mutation_p.V390I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1477	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCTGGTGAGACGGTCACTTTC	0.572000												
CSMD2	114784	broad.mit.edu	37	1	34204792	34204792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:34204792C>T	uc001bxn.1	-	15	2226	c.2197G>A	c.(2197-2199)GTC>ATC	p.V733I	CSMD2_uc001bxm.1_Missense_Mutation_p.V773I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	733	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTTCAGGACGCAGGTGATG	0.612000												
GJB4	127534	broad.mit.edu	37	1	35227553	35227553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:35227553C>T	uc001bxv.1	+	2	1068	c.698C>T	c.(697-699)ACG>ATG	p.T233M	GJB4_uc001bxw.3_Missense_Mutation_p.T233M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	233	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTACCCGATACGTGCCCACCA	0.617000												
CSF3R	1441	broad.mit.edu	37	1	36938264	36938264	+	Missense_Mutation	SNP	G	G	A	rs150616658		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36938264G>A	uc001caw.1	-	7	875	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.R233W|CSF3R_uc001cax.1_Missense_Mutation_p.R233W|CSF3R_uc001cay.1_Missense_Mutation_p.R233W	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	233	Extracellular (Potential).				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)	TCCATGGTCCGCAGCATGGGG	0.627000												
EPHA10	284656	broad.mit.edu	37	1	38184382	38184382	+	Missense_Mutation	SNP	C	C	T	rs11583463		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:38184382C>T	uc009vvi.2	-	16	2949	c.2863G>A	c.(2863-2865)GCG>ACG	p.A955T	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	955	Cytoplasmic (Potential).|SAM.					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)				CCAGCAGCCGCGAAGCTGTCC	0.672000												
KIAA0754	643314	broad.mit.edu	37	1	39877867	39877867	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:39877867G>A	uc009vvt.1	+	1	2692	c.1930G>A	c.(1930-1932)GAG>AAG	p.E644K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	508											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGGAATGGTGAGGAGTGCAT	0.423000												
PPIE	10450	broad.mit.edu	37	1	40219004	40219004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40219004G>A	uc001cds.1	+	10	926	c.883G>A	c.(883-885)GCC>ACC	p.A295T	PPIE_uc001cdt.1_Missense_Mutation_p.A229T|PPIE_uc010oiy.1_Missense_Mutation_p.A216T|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron|PPIE_uc001cdx.1_Missense_Mutation_p.A211T	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	295	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGTGATCATCGCCGACTGTGG	0.582000												
ZNF643	65243	broad.mit.edu	37	1	40928171	40928171	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40928171T>C	uc001cfn.1	+	5	812	c.515T>C	c.(514-516)ATG>ACG	p.M172T	ZNF643_uc001cfl.1_Missense_Mutation_p.M70T|ZNF643_uc001cfm.1_Missense_Mutation_p.M38T	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGTGGCCTAATGATGGAAAGA	0.358000												
MPL	4352	broad.mit.edu	37	1	43805156	43805156	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:43805156A>G	uc001ciw.2	+	4	651	c.606A>G	c.(604-606)TCA>TCG	p.S202S	MPL_uc001civ.2_Silent_p.S202S|MPL_uc009vwr.2_Silent_p.S195S	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	202	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTCACTCAGCCTCTGCTC	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
KIAA0467	23334	broad.mit.edu	37	1	43905354	43905354	+	Missense_Mutation	SNP	C	C	T	rs150979208		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:43905354C>T	uc001cjk.1	+	35	4721	c.4259C>T	c.(4258-4260)CCG>CTG	p.P1420L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2319						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTCCTCTCCGGGGCCCCCA	0.602000												
DPH2	1802	broad.mit.edu	37	1	44437851	44437851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:44437851T>C	uc001ckz.2	+	5	1385	c.1190T>C	c.(1189-1191)CTC>CCC	p.L397P	DPH2_uc001cla.2_Missense_Mutation_p.L169P|DPH2_uc010okk.1_Missense_Mutation_p.L262P|DPH2_uc001clb.2_Missense_Mutation_p.L321P|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	397					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CACGTGGCTCTCCCACCACCT	0.562000												
TESK2	10420	broad.mit.edu	37	1	45810847	45810847	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:45810847G>T	uc001cns.1	-	11	1784	c.1381C>A	c.(1381-1383)CCT>ACT	p.P461T	TESK2_uc009vxr.1_Missense_Mutation_p.P432T|TESK2_uc010olo.1_Missense_Mutation_p.P378T|TESK2_uc009vxs.1_Missense_Mutation_p.P253T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	461					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					AAGAACTCAGGCGAACCAGGC	0.582000												
TESK2	10420	broad.mit.edu	37	1	45851582	45851582	+	Splice_Site	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:45851582A>G	uc001cns.1	-	4	796	c.393_splice	c.e4+1	p.E131_splice	TESK2_uc009vxr.1_Splice_Site_p.E131_splice|TESK2_uc010olo.1_Splice_Site_p.E48_splice|TESK2_uc009vxs.1_Intron	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2						actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTGATGTCTTACCTCTGTAAG	0.338000												
CCDC17	149483	broad.mit.edu	37	1	46086396	46086396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:46086396G>A	uc010olt.1	-	12	1857	c.1709C>T	c.(1708-1710)CCG>CTG	p.P570L	CCDC17_uc009vxy.2_Missense_Mutation_p.P538L|CCDC17_uc010ols.1_Missense_Mutation_p.P561L|CCDC17_uc001com.3_Missense_Mutation_p.P391L|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	570										ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCCTCACCGGAGGTGGGTA	0.463000												
TTC39A	22996	broad.mit.edu	37	1	51760082	51760082	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:51760082G>A	uc001csl.2	-	14	1460	c.1355C>T	c.(1354-1356)TCG>TTG	p.S452L	TTC39A_uc001csk.2_Missense_Mutation_p.S417L|TTC39A_uc010ond.1_Missense_Mutation_p.S389L|TTC39A_uc010one.1_Missense_Mutation_p.S416L|TTC39A_uc010onf.1_Missense_Mutation_p.S420L|TTC39A_uc001csj.2_Missense_Mutation_p.S53L	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A isoform 2	452							binding			skin(1)	1						CACTGGCAGCGAGATAGGGTT	0.597000												
NRD1	4898	broad.mit.edu	37	1	52279744	52279744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52279744C>T	uc001ctc.3	-	16	2163	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	NRD1_uc009vzb.2_Missense_Mutation_p.R309Q|NRD1_uc001ctd.3_Missense_Mutation_p.R546Q|NRD1_uc001cte.2_Missense_Mutation_p.R482Q|NRD1_uc001ctf.2_Missense_Mutation_p.R546Q|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	545					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CTCAATTTTCCGAATCTCTTC	0.254000												
ORC1L	4998	broad.mit.edu	37	1	52839017	52839017	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52839017T>G	uc001ctt.2	-	17	2641	c.2422A>C	c.(2422-2424)ATG>CTG	p.M808L	ORC1L_uc010oni.1_Missense_Mutation_p.M803L|ORC1L_uc001ctu.2_Missense_Mutation_p.M808L|ORC1L_uc009vzd.2_Missense_Mutation_p.M562L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	808	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						AGTCCCTCCATTCTGCACAGT	0.507000												
DMRTB1	63948	broad.mit.edu	37	1	53930372	53930372	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:53930372G>A	uc001cvq.1	+	3	868	c.813G>A	c.(811-813)CTG>CTA	p.L271L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	271	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						cgccgccactgccgccCCTTC	0.557000												
GLIS1	148979	broad.mit.edu	37	1	53986414	53986414	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:53986414G>A	uc001cvr.1	-	6	1661	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	365					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CAGGACGTCGGCCTCGGTGTC	0.657000												
INADL	10207	broad.mit.edu	37	1	62330097	62330097	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:62330097A>T	uc001dab.2	+	20	2741	c.2627A>T	c.(2626-2628)TAT>TTT	p.Y876F	INADL_uc009waf.1_Missense_Mutation_p.Y876F|INADL_uc001daa.2_Missense_Mutation_p.Y876F|INADL_uc001dad.3_Missense_Mutation_p.Y573F|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	876					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GATGAAGAATATGAGTTATAT	0.438000												
INADL	10207	broad.mit.edu	37	1	62330117	62330117	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:62330117T>G	uc001dab.2	+	20	2761	c.2647T>G	c.(2647-2649)TCA>GCA	p.S883A	INADL_uc009waf.1_Missense_Mutation_p.S883A|INADL_uc001daa.2_Missense_Mutation_p.S883A|INADL_uc001dad.3_Missense_Mutation_p.S580A|INADL_uc001dac.2_RNA	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	883					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TCAAGATCCCTCACCATCCAT	0.433000												
EFCAB7	84455	broad.mit.edu	37	1	64022887	64022887	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:64022887A>C	uc001dbf.2	+	10	1611	c.1317A>C	c.(1315-1317)AAA>AAC	p.K439N		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	439							calcium ion binding				0						GTGGTGAGAAATGTGATGAAG	0.308000												
LRRIQ3	127255	broad.mit.edu	37	1	74492637	74492637	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:74492637T>C	uc001dfy.3	-	8	1927	c.1735A>G	c.(1735-1737)AAA>GAA	p.K579E	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	579	Potential.									ovary(2)	2						CAATGTCTTTTATATATTTCT	0.284000												
C1orf173	127254	broad.mit.edu	37	1	75038908	75038908	+	Missense_Mutation	SNP	C	C	T	rs35151101		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75038908C>T	uc001dgg.2	-	14	2705	c.2486G>A	c.(2485-2487)AGG>AAG	p.R829K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	829	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGGGATCTCCCTTTTTTCTGT	0.572000												
SLC44A5	204962	broad.mit.edu	37	1	75688134	75688134	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75688134A>G	uc001dgu.2	-	14	1141	c.997T>C	c.(997-999)TGC>CGC	p.C333R	SLC44A5_uc001dgt.2_Missense_Mutation_p.C333R|SLC44A5_uc001dgs.2_Missense_Mutation_p.C291R|SLC44A5_uc001dgr.2_Missense_Mutation_p.C291R|SLC44A5_uc010oqz.1_Missense_Mutation_p.C372R|SLC44A5_uc010ora.1_Missense_Mutation_p.C327R|SLC44A5_uc010orb.1_Missense_Mutation_p.C203R	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	333	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TCAATGATGCAGAGTATTATC	0.398000												
HS2ST1	9653	broad.mit.edu	37	1	87538643	87538643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:87538643C>T	uc010osk.1	+	2	536	c.151C>T	c.(151-153)CGA>TGA	p.R51*	HS2ST1_uc001dmc.3_Nonsense_Mutation_p.R51*|LOC339524_uc001dme.1_Nonsense_Mutation_p.R12*	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1 isoform	51	Lumenal (Potential).					Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACACGAAGTCCGAGAAATTGA	0.418000												
BRDT	676	broad.mit.edu	37	1	92442712	92442712	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:92442712C>A	uc001dok.3	+	6	1080	c.731C>A	c.(730-732)CCT>CAT	p.P244H	BRDT_uc001dol.3_Missense_Mutation_p.P244H|BRDT_uc010osz.1_Missense_Mutation_p.P248H|BRDT_uc009wdf.2_Missense_Mutation_p.P171H|BRDT_uc010ota.1_Missense_Mutation_p.P198H|BRDT_uc010otb.1_Missense_Mutation_p.P198H|BRDT_uc001dom.3_Missense_Mutation_p.P244H	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCACTGCCACCTATAAAAGAA	0.368000												
MTF2	22823	broad.mit.edu	37	1	93602324	93602324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:93602324C>T	uc009wdj.2	+	15	1814	c.1522C>T	c.(1522-1524)CTC>TTC	p.L508F	MTF2_uc010oth.1_Missense_Mutation_p.L406F|MTF2_uc009wdk.2_Missense_Mutation_p.L451F|MTF2_uc001dpi.3_Missense_Mutation_p.L235F|MTF2_uc010oti.1_Missense_Mutation_p.L406F|MTF2_uc001dpj.3_Missense_Mutation_p.L406F|MTF2_uc001dpl.3_Missense_Mutation_p.L406F|MTF2_uc001dpm.3_Missense_Mutation_p.L177F	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	508						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AAGAAGAGCACTCCAGACTCA	0.408000												
BCAR3	8412	broad.mit.edu	37	1	94054660	94054660	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:94054660G>A	uc001dpz.2	-	5	1078	c.803C>T	c.(802-804)ACC>ATC	p.T268I	BCAR3_uc001dqa.2_Missense_Mutation_p.T268I|BCAR3_uc001dqb.2_Missense_Mutation_p.T268I|BCAR3_uc001dpy.2_Missense_Mutation_p.T177I|uc009wdn.2_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	268					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCCTGGGGAGGTGCCATAATG	0.677000												
LPPR4	9890	broad.mit.edu	37	1	99767288	99767288	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:99767288C>A	uc001dse.2	+	6	907	c.801C>A	c.(799-801)TTC>TTA	p.F267L	LPPR4_uc010oue.1_Intron	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	267	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGATGTACTTCAATTCCACAT	0.328000												
SASS6	163786	broad.mit.edu	37	1	100551134	100551134	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100551134T>C	uc001dsu.2	-	16	1966	c.1825A>G	c.(1825-1827)ATT>GTT	p.I609V	SASS6_uc009wdz.2_Missense_Mutation_p.I442V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	609					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CGTAAAGGAATGCTATCTTCC	0.313000												
CDC14A	8556	broad.mit.edu	37	1	100964501	100964501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100964501C>T	uc001dtg.3	+	15	1926	c.1438C>T	c.(1438-1440)CGG>TGG	p.R480W	CDC14A_uc010oui.1_Missense_Mutation_p.R422W|CDC14A_uc001dtf.2_Missense_Mutation_p.R480W|CDC14A_uc009wed.1_Missense_Mutation_p.R187W|CDC14A_uc009wee.2_Missense_Mutation_p.R480W	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	480					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)		CATAAACTCCCGGCTAGCCAG	0.453000												
CDC14A	8556	broad.mit.edu	37	1	100964650	100964650	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:100964650T>C	uc001dtg.3	+	15	2075	c.1587T>C	c.(1585-1587)CCT>CCC	p.P529P	CDC14A_uc010oui.1_Silent_p.P471P|CDC14A_uc001dtf.2_Silent_p.P529P|CDC14A_uc009wed.1_Silent_p.P236P|CDC14A_uc009wee.2_Silent_p.P529P	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	529					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)		GAAATTACCCTGAGCTCAACA	0.542000												
AKNAD1	254268	broad.mit.edu	37	1	109358853	109358853	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109358853A>G	uc001dwa.2	-	16	2720	c.2451T>C	c.(2449-2451)ATT>ATC	p.I817I	AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	817										ovary(3)	3						CAATCGTTTTAATCATTTGAT	0.383000												
CELSR2	1952	broad.mit.edu	37	1	109795502	109795502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109795502G>A	uc001dxa.3	+	1	2862	c.2801G>A	c.(2800-2802)AGC>AAC	p.S934N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	934	Extracellular (Potential).|Cadherin 8.				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)		GAAGAGAACAGCCCCATTGGG	0.542000												
MYBPHL	343263	broad.mit.edu	37	1	109849545	109849545	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:109849545C>T	uc001dxk.1	-	1	119	c.69G>A	c.(67-69)GCG>GCA	p.A23A	MYBPHL_uc010ovh.1_Silent_p.A23A|MYBPHL_uc001dxl.2_RNA	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	23										ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTTCAGCATCCGCTGGGCTGG	0.662000												
ATXN7L2	127002	broad.mit.edu	37	1	110031548	110031548	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110031548A>G	uc001dxr.2	+	7	878	c.863A>G	c.(862-864)AAC>AGC	p.N288S	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	288	SCA7.									ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGAAGGCCAACTCCCGCAAA	0.617000												
AHCYL1	10768	broad.mit.edu	37	1	110563414	110563414	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110563414T>C	uc001dyx.2	+	16	1894	c.1527T>C	c.(1525-1527)GAT>GAC	p.D509D	AHCYL1_uc010ovw.1_Silent_p.D462D|AHCYL1_uc001dyy.2_Silent_p.D462D|AHCYL1_uc010ovx.1_Silent_p.D462D	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	509					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)		AGCTGACAGATGACCAAGCAA	0.448000												
KCNC4	3749	broad.mit.edu	37	1	110765721	110765721	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:110765721C>T	uc001dzh.2	+	2	871	c.814C>T	c.(814-816)CGG>TGG	p.R272W	KCNC4_uc001dzf.2_Missense_Mutation_p.R272W|KCNC4_uc009wfr.2_Missense_Mutation_p.R272W|KCNC4_uc001dzg.2_Missense_Mutation_p.R272W|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	272					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTGCACTTCCGGCGGGAGGT	0.582000												
CHIA	27159	broad.mit.edu	37	1	111854340	111854340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:111854340G>A	uc001eas.2	+	3	158	c.55G>A	c.(55-57)GGC>AGC	p.G19S	CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_5'UTR|CHIA_uc009wgc.2_5'UTR|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_5'UTR|CHIA_uc009wgd.2_5'UTR	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	19					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTTGCAGCTCGGTAAGTCATG	0.388000												
KCND3	3752	broad.mit.edu	37	1	112524322	112524322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:112524322C>T	uc001ebu.1	-	2	1507	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	KCND3_uc001ebv.1_Missense_Mutation_p.E343K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	343						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)		GAGCCCTTCTCGGCATAAAAC	0.542000												
MOV10	4343	broad.mit.edu	37	1	113232213	113232213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:113232213G>A	uc001eck.2	+	4	788	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	MOV10_uc001ecl.2_Missense_Mutation_p.R173Q|MOV10_uc001ecn.2_Missense_Mutation_p.R173Q|MOV10_uc001ecm.2_Missense_Mutation_p.R113Q|MOV10_uc009wgj.1_Missense_Mutation_p.R113Q	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	173					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCACTCTGCCGGACACCCCAG	0.567000												
NGF	4803	broad.mit.edu	37	1	115829258	115829258	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:115829258G>T	uc001efu.1	-	3	328	c.159C>A	c.(157-159)AGC>AGA	p.S53R		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	53					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTGCCGGGGCGCTGCGGGCTC	0.622000												
CD58	965	broad.mit.edu	37	1	117078587	117078587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:117078587C>T	uc001egm.2	-	3	749	c.628G>A	c.(628-630)GGT>AGT	p.G210S	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Missense_Mutation_p.G210S|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Missense_Mutation_p.G210S	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	210	Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTACTCACCGCTGCTTGGG	0.343000												
ADAMTSL4	54507	broad.mit.edu	37	1	150529726	150529726	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150529726G>A	uc001eux.2	+	12	2198	c.1962G>A	c.(1960-1962)CCG>CCA	p.P654P	ADAMTSL4_uc001euw.2_Silent_p.P654P|ADAMTSL4_uc009wlw.2_Silent_p.P677P|ADAMTSL4_uc010pcg.1_Intron|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	654	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCCGCCCCGCCCCATCCCA	0.672000												
SETDB1	9869	broad.mit.edu	37	1	150923259	150923259	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150923259C>T	uc001evu.2	+	13	2096	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	SETDB1_uc009wmf.2_Missense_Mutation_p.R637W|SETDB1_uc001evv.2_Missense_Mutation_p.R636W|SETDB1_uc009wmg.1_Missense_Mutation_p.R636W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	636	MBD.				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)			TCTCTGCCTTCGGACAATGCA	0.493000												
SETDB1	9869	broad.mit.edu	37	1	150931769	150931769	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150931769G>T	uc001evu.2	+	15	2636	c.2446G>T	c.(2446-2448)GGT>TGT	p.G816C	SETDB1_uc001evv.2_Missense_Mutation_p.G816C|SETDB1_uc009wmg.1_Missense_Mutation_p.G816C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	816	SET.				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)			CAAGGGCTGGGGTATCCGCTG	0.458000												
PI4KB	5298	broad.mit.edu	37	1	151280093	151280093	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151280093C>T	uc001ext.2	-	4	1554	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	PI4KB_uc001exr.2_Missense_Mutation_p.R392H|PI4KB_uc001exs.2_Missense_Mutation_p.R365H|PI4KB_uc001exu.2_Missense_Mutation_p.R365H|PI4KB_uc010pcw.1_Missense_Mutation_p.R48H	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	380					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GTGGGGTACACGGACCACGTG	0.572000												
TCHH	7062	broad.mit.edu	37	1	152083177	152083177	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152083177T>C	uc001ezp.2	-	2	2516	c.2516A>G	c.(2515-2517)CAG>CGG	p.Q839R	TCHH_uc009wne.1_Missense_Mutation_p.Q839R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	839					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTGGAGCTGCTCCTCTTC	0.672000												
HRNR	388697	broad.mit.edu	37	1	152190973	152190973	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152190973G>A	uc001ezt.1	-	3	3208	c.3132C>T	c.(3130-3132)TCC>TCT	p.S1044S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1044	12.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.582000												
SPRR3	6707	broad.mit.edu	37	1	152975733	152975733	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152975733G>A	uc001fax.3	+	3	387	c.237G>A	c.(235-237)GAG>GAA	p.E79E	SPRR3_uc001faz.3_Silent_p.E79E|SPRR3_uc001fay.2_Silent_p.E71E	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	79	5.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.587000												
HAX1	10456	broad.mit.edu	37	1	154247469	154247469	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:154247469A>G	uc001fes.2	+	4	709	c.548A>G	c.(547-549)GAG>GGG	p.E183G	HAX1_uc001fet.2_Missense_Mutation_p.E135G|HAX1_uc010peo.1_Missense_Mutation_p.E191G|HAX1_uc009wou.2_Missense_Mutation_p.E108G|HAX1_uc009wov.2_Missense_Mutation_p.E157G	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	183	Involved in CASP9 binding.|Involved in HCLS1 binding.|Involved in GNA13 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAACCAGAGAGGACAATGGT	0.433000									Kostmann_syndrome			
ASH1L	55870	broad.mit.edu	37	1	155491087	155491087	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:155491087A>G	uc009wqq.2	-	2	704	c.224T>C	c.(223-225)GTG>GCG	p.V75A	ASH1L_uc001fkt.2_Missense_Mutation_p.V75A|ASH1L_uc009wqr.1_Missense_Mutation_p.V75A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	75					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTTTCTTTCACTGAAAACTG	0.393000												
GON4L	54856	broad.mit.edu	37	1	155722995	155722995	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:155722995C>A	uc001flz.2	-	29	5939	c.5842G>T	c.(5842-5844)GCA>TCA	p.A1948S	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Nonsense_Mutation_p.G1948*|GON4L_uc009wrh.1_Nonsense_Mutation_p.G1948*|GON4L_uc001fma.1_Missense_Mutation_p.A1948S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1948					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATCACTCACCTGAAACAGGC	0.542000												
NES	10763	broad.mit.edu	37	1	156645010	156645010	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156645010G>A	uc001fpq.2	-	2	1039	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	302	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCGTACCTGTACGTGGCCA	0.617000												
FCRL4	83417	broad.mit.edu	37	1	157557085	157557085	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:157557085C>T	uc001fqw.2	-	5	964	c.828G>A	c.(826-828)TCG>TCA	p.S276S	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	276	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGATCTGTAGCGAGGGACTGT	0.557000												
OR10R2	343406	broad.mit.edu	37	1	158450149	158450149	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158450149G>A	uc010pik.1	+	1	482	c.482G>A	c.(481-483)TGT>TAT	p.C161Y	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	161	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TGGCAGGTGTGTGGAAAACTG	0.488000												
OR6K3	391114	broad.mit.edu	37	1	158687866	158687866	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158687866A>T	uc010pip.1	-	1	88	c.88T>A	c.(88-90)TTC>ATC	p.F30I		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	30	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AATCCAGTGAAGATAAATTCA	0.388000												
PYHIN1	149628	broad.mit.edu	37	1	158914700	158914700	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158914700C>T	uc001ftb.2	+	7	1472	c.1227C>T	c.(1225-1227)TCC>TCT	p.S409S	PYHIN1_uc001ftc.2_Silent_p.S400S|PYHIN1_uc001ftd.2_Silent_p.S409S|PYHIN1_uc001fte.2_Silent_p.S400S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	409					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GCCATGACTCCAGGAGCATGG	0.403000												
CADM3	57863	broad.mit.edu	37	1	159163282	159163282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:159163282A>G	uc001ftl.2	+	4	594	c.452A>G	c.(451-453)AAC>AGC	p.N151S	CADM3_uc009wsx.1_Missense_Mutation_p.N185S|CADM3_uc009wsy.1_Missense_Mutation_p.N151S|CADM3_uc001ftk.2_Missense_Mutation_p.N185S	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	151	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GCCACCCTAAACTGTCAGTCT	0.527000												
DCAF8	50717	broad.mit.edu	37	1	160209863	160209863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:160209863C>T	uc001fvo.2	-	4	659	c.347G>A	c.(346-348)CGC>CAC	p.R116H	DCAF8_uc001fvn.2_Missense_Mutation_p.R116H|DCAF8_uc009wth.2_Missense_Mutation_p.R116H|DCAF8_uc010pjb.1_Missense_Mutation_p.R116H|DCAF8_uc010pjc.1_Missense_Mutation_p.R270H|DCAF8_uc001fvq.3_Missense_Mutation_p.R116H|DCAF8_uc001fvp.3_Missense_Mutation_p.R116H|uc010pjd.1_3'UTR	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	116						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						CTGTACACGGCGCCGAGGCTG	0.448000												
ARHGAP30	257106	broad.mit.edu	37	1	161018410	161018410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161018410C>A	uc001fxl.2	-	12	2747	c.2401G>T	c.(2401-2403)GGA>TGA	p.G801*	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Nonsense_Mutation_p.G647*|ARHGAP30_uc009wtx.2_Nonsense_Mutation_p.G474*	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	801	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCCTCTGTCCTTTGTCCTCA	0.527000												
TOMM40L	84134	broad.mit.edu	37	1	161196288	161196288	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161196288C>T	uc001fzd.2	+	2	238	c.9C>T	c.(7-9)AAC>AAT	p.N3N	APOA2_uc001fzc.1_5'Flank|TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Silent_p.N3N|TOMM40L_uc009wue.2_5'UTR|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Silent_p.N3N	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	3					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAATGGGGAACACATTGGGCC	0.622000												
HSPA6	3310	broad.mit.edu	37	1	161495033	161495033	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161495033C>T	uc001gap.2	+	2	1245	c.585C>T	c.(583-585)CGC>CGT	p.R195R	HSPA6_uc001gaq.2_Silent_p.R195R	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	195					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)			CGGGAGAGCGCAACGTGCTCA	0.627000												
NUF2	83540	broad.mit.edu	37	1	163313613	163313613	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:163313613T>C	uc001gcq.1	+	10	1060	c.760T>C	c.(760-762)TAT>CAT	p.Y254H	NUF2_uc001gcp.2_Missense_Mutation_p.Y254H|NUF2_uc001gcr.1_Missense_Mutation_p.Y254H|NUF2_uc009wvc.1_Missense_Mutation_p.Y254H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	254	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)|skin(1)	4	all_hematologic(923;0.101)					GTTAAAGAATTATAAAGAAAA	0.279000												
DCAF6	55827	broad.mit.edu	37	1	167962538	167962538	+	Silent	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:167962538A>C	uc001gew.2	+	7	1005	c.763A>C	c.(763-765)AGA>CGA	p.R255R	DCAF6_uc001gev.2_Silent_p.R255R|DCAF6_uc001gex.2_Silent_p.R255R|DCAF6_uc010plk.1_Silent_p.R224R|DCAF6_uc001gey.2_Silent_p.R108R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b	255	WD 5.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						TAAGTCCTGCAGAGTGACATC	0.383000												
SELP	6403	broad.mit.edu	37	1	169586506	169586506	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:169586506T>C	uc001ggi.3	-	3	306	c.241A>G	c.(241-243)AAG>GAG	p.K81E	SELP_uc001ggh.2_Translation_Start_Site|SELP_uc009wvr.2_Missense_Mutation_p.K81E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	81	Extracellular (Potential).|C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGTAGGACCTTATTGAGGTAA	0.433000												
FMO4	2329	broad.mit.edu	37	1	171300894	171300894	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171300894T>G	uc001gho.2	+	6	817	c.600T>G	c.(598-600)GCT>GCG	p.A200A		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	200					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAGACATTGCTGTGGAACTCA	0.463000												
BAT2L2	23215	broad.mit.edu	37	1	171504603	171504603	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171504603G>A	uc010pmg.1	+	13	2170	c.1904G>A	c.(1903-1905)CGC>CAC	p.R635H		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	635	Glu-rich.						protein C-terminus binding				0						GACAGCAATCGCAGTGAAAAG	0.433000												
BAT2L2	23215	broad.mit.edu	37	1	171560757	171560757	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:171560757C>T	uc010pmg.1	+	34	8491	c.8225C>T	c.(8224-8226)ACG>ATG	p.T2742M	BAT2L2_uc010pmh.1_Missense_Mutation_p.T1654M|BAT2L2_uc010pmi.1_Missense_Mutation_p.T658M|BAT2L2_uc010pmj.1_Missense_Mutation_p.T274M	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							protein C-terminus binding				0						CTTCAGTCCACGCAACGGTTC	0.438000												
GPR52	9293	broad.mit.edu	37	1	174418046	174418046	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:174418046T>G	uc001gka.1	+	1	835	c.797T>G	c.(796-798)GTT>GGT	p.V266G	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	266	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TACGCCATGGTTTTGTTTAGG	0.463000												
TDRD5	163589	broad.mit.edu	37	1	179600006	179600006	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:179600006A>G	uc001gnf.1	+	7	1327	c.1077A>G	c.(1075-1077)GGA>GGG	p.G359G	TDRD5_uc010pnp.1_Silent_p.G359G|TDRD5_uc001gnh.1_5'UTR	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	359	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						TCAGGAAAGGACACCAAGACT	0.393000												
QSOX1	5768	broad.mit.edu	37	1	180155204	180155204	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:180155204G>T	uc001gnz.2	+	8	979	c.904G>T	c.(904-906)GCT>TCT	p.A302S	QSOX1_uc001gny.2_Missense_Mutation_p.A302S|QSOX1_uc001goa.2_Missense_Mutation_p.A302S	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	302					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GATCTACATGGCTGACCTGGA	0.557000												
HMCN1	83872	broad.mit.edu	37	1	186107063	186107063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:186107063A>G	uc001grq.1	+	89	14112	c.13883A>G	c.(13882-13884)AAT>AGT	p.N4628S	HMCN1_uc001grs.1_Missense_Mutation_p.N197S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4628	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTGAAGGGAATGCTGTGGAA	0.458000												
ZBTB41	360023	broad.mit.edu	37	1	197147552	197147552	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:197147552C>T	uc001gtx.1	-	6	1836	c.1767G>A	c.(1765-1767)TCG>TCA	p.S589S	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	589	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTTACCTATACGAACTTCCAT	0.299000												
PTPRC	5788	broad.mit.edu	37	1	198608465	198608465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:198608465G>A	uc001gur.1	+	2	241	c.61G>A	c.(61-63)GTG>ATG	p.V21M	PTPRC_uc001gus.1_Missense_Mutation_p.V21M|PTPRC_uc001gut.1_Missense_Mutation_p.V21M|PTPRC_uc001guq.2_Missense_Mutation_p.V21M|PTPRC_uc009wze.1_Missense_Mutation_p.V23M|PTPRC_uc009wzf.1_Missense_Mutation_p.V23M|PTPRC_uc010ppg.1_Missense_Mutation_p.V23M|PTPRC_uc001guu.1_Missense_Mutation_p.V23M|PTPRC_uc001guv.1_Splice_Site|PTPRC_uc001guw.1_Splice_Site	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	21					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						AGAAGTATTTGTGACAGGTAA	0.328000												
IGFN1	91156	broad.mit.edu	37	1	201185742	201185742	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:201185742C>T	uc001gwc.2	+	5	1708	c.936C>T	c.(934-936)GGC>GGT	p.G312G	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						TGAAGGTGGGCGAGGCCCCCG	0.672000												
IPO9	55705	broad.mit.edu	37	1	201816700	201816700	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:201816700A>C	uc001gwz.2	+	3	296	c.246A>C	c.(244-246)AAA>AAC	p.K82N		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	82	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						TCATCTTGAAACAATATGTGG	0.388000												
ARL8A	127829	broad.mit.edu	37	1	202104870	202104870	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202104870T>C	uc001gxk.1	-	4	503	c.337A>G	c.(337-339)AAC>GAC	p.N113D		NM_138795	NP_620150	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	113					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			ovary(2)	2						TCCAGTAGGTTGTGGAGCTCG	0.592000											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTPN7	5778	broad.mit.edu	37	1	202126901	202126901	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202126901G>A	uc001gxm.1	-	4	488	c.357C>T	c.(355-357)CAC>CAT	p.H119H	PTPN7_uc001gxl.1_Silent_p.H158H|PTPN7_uc001gxn.1_Silent_p.H119H|PTPN7_uc010ppv.1_Translation_Start_Site|PTPN7_uc010ppw.1_Silent_p.H67H|PTPN7_uc010ppx.1_Silent_p.H193H|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Silent_p.H71H	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	119	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CCTTGGAGGCGTGGCCAGGGA	0.557000												
LGR6	59352	broad.mit.edu	37	1	202287836	202287836	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202287836C>A	uc001gxu.2	+	18	2405	c.2405C>A	c.(2404-2406)CCT>CAT	p.P802H	LGR6_uc001gxv.2_Missense_Mutation_p.P750H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.P663H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	802	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GGCCTCTTCCCTGTCACGCCC	0.647000												
KDM5B	10765	broad.mit.edu	37	1	202715099	202715099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:202715099G>A	uc001gyf.2	-	16	2326	c.2210C>T	c.(2209-2211)ACG>ATG	p.T737M	KDM5B_uc009xag.2_Missense_Mutation_p.T773M|KDM5B_uc001gyg.1_Missense_Mutation_p.T579M	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	737					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ATCATCCAGCGTGTACCTATA	0.408000												
MYOG	4656	broad.mit.edu	37	1	203054840	203054840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:203054840G>A	uc001gzd.2	-	1	538	c.250C>T	c.(250-252)CGG>TGG	p.R84W		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	84	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GTGGCCGCCCGCCGCCGGTCC	0.657000												
OPTC	26254	broad.mit.edu	37	1	203467905	203467905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:203467905C>T	uc001gzu.1	+	4	583	c.467C>T	c.(466-468)GCC>GTC	p.A156V		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	156	LRR 1.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGGAGGACTGCCTACCTGTAT	0.572000												
PIK3C2B	5287	broad.mit.edu	37	1	204438319	204438319	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:204438319C>T	uc001haw.2	-	3	1091	c.612G>A	c.(610-612)GAG>GAA	p.E204E	PIK3C2B_uc010pqv.1_Silent_p.E204E|PIK3C2B_uc001hax.1_Silent_p.E204E|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	204	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGATCCGATGCTCTAGCAGTT	0.547000												
DSTYK	25778	broad.mit.edu	37	1	205126463	205126463	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205126463C>T	uc001hbw.2	-	10	2354	c.2290G>A	c.(2290-2292)GGA>AGA	p.G764R	DSTYK_uc001hbx.2_Missense_Mutation_p.G764R	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	764	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AAGCGGATTCCCTCCACCACA	0.478000												
CDK18	5129	broad.mit.edu	37	1	205495262	205495262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205495262C>T	uc001hcr.2	+	6	835	c.616C>T	c.(616-618)CGG>TGG	p.R206W	CDK18_uc010pri.1_Missense_Mutation_p.P196L|CDK18_uc001hcp.2_Missense_Mutation_p.R176W|CDK18_uc001hcq.2_Missense_Mutation_p.R176W|CDK18_uc010prj.1_Missense_Mutation_p.R87W|CDK18_uc001hcs.2_Missense_Mutation_p.R87W|CDK18_uc009xbm.1_Missense_Mutation_p.R87W	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	174	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						GAAAGAGATCCGGCTGGAGCA	0.652000												
SLC26A9	115019	broad.mit.edu	37	1	205892468	205892468	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:205892468C>T	uc001hdq.2	-	15	1768	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC26A9_uc001hdo.2_Missense_Mutation_p.A220T|SLC26A9_uc001hdp.2_Missense_Mutation_p.A552T	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	552	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTACCTTGGCGATGACCTTT	0.557000												
CD55	1604	broad.mit.edu	37	1	207500173	207500173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207500173G>A	uc001hfq.3	+	5	949	c.655G>A	c.(655-657)GAG>AAG	p.E219K	CD55_uc001hfp.3_Missense_Mutation_p.E219K|CD55_uc001hfr.3_Missense_Mutation_p.E219K|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.E155K|CD55_uc009xce.2_Missense_Mutation_p.E219K|CD55_uc009xcg.2_5'UTR	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	219	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)	CCCGTTGCCAGAGTGCAGAGG	0.398000												
CR1	1378	broad.mit.edu	37	1	207679429	207679429	+	Splice_Site	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207679429G>A	uc001hfy.2	+	2	441	c.301_splice	c.e2+1	p.R101_splice	CR1_uc009xcl.1_Splice_Site_p.R101_splice|CR1_uc001hfx.2_Splice_Site_p.R101_splice|CR1_uc010psg.1_Splice_Site_p.R101_splice|CR1_uc009xcj.1_Splice_Site_p.R101_splice|CR1_uc009xck.1_Splice_Site_p.R101_splice	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						AGGTGCAGACGTAAGTAACTC	0.418000												
TRAF3IP3	80342	broad.mit.edu	37	1	209955413	209955413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:209955413C>T	uc001hho.2	+	17	1866	c.1576C>T	c.(1576-1578)CGA>TGA	p.R526*	TRAF3IP3_uc001hhn.2_Nonsense_Mutation_p.R506*|TRAF3IP3_uc009xcr.2_Nonsense_Mutation_p.R526*	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	526	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCAATGTGGGCGATGGCTCCC	0.483000												
USH2A	7399	broad.mit.edu	37	1	216462723	216462723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:216462723A>G	uc001hku.1	-	11	2257	c.1870T>C	c.(1870-1872)TTT>CTT	p.F624L	USH2A_uc001hkv.2_Missense_Mutation_p.F624L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	624	Laminin EGF-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCGGAAAAAGTAATCCTTG	0.398000										HNSCC(13;0.011)		
DUSP10	11221	broad.mit.edu	37	1	221879607	221879607	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:221879607T>C	uc001hmy.1	-	3	1195	c.1013A>G	c.(1012-1014)CAG>CGG	p.Q338R	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	338					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GTCCAGGTCCTGAGCATCCTG	0.557000												
ENAH	55740	broad.mit.edu	37	1	225707022	225707022	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:225707022T>C	uc001hpc.1	-	5	1133	c.680A>G	c.(679-681)CAA>CGA	p.Q227R	ENAH_uc001hpd.1_Missense_Mutation_p.Q227R	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	227	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTGTCTTTCTTGCCTCTCCCG	0.338000												
TMEM63A	9725	broad.mit.edu	37	1	226053597	226053597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:226053597C>T	uc001hpm.1	-	10	996	c.746G>A	c.(745-747)CGG>CAG	p.R249Q		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	249						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					ACCTGCTTACCGGAAGTGGCT	0.622000												
OBSCN	84033	broad.mit.edu	37	1	228506694	228506694	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228506694T>C	uc009xez.1	+	54	14285	c.14241T>C	c.(14239-14241)CGT>CGC	p.R4747R	OBSCN_uc001hsn.2_Silent_p.R4747R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4747					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)				CTCGGAAACGTCGCATGAGCC	0.692000												
OBSCN	84033	broad.mit.edu	37	1	228538616	228538616	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228538616A>G	uc009xez.1	+	77	18435	c.18391A>G	c.(18391-18393)ATC>GTC	p.I6131V	OBSCN_uc001hsn.2_Missense_Mutation_p.I6131V|OBSCN_uc001hsr.1_Missense_Mutation_p.I760V|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6131	Ig-like 53.				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)				CACCTGCACCATCGAAGGCGC	0.662000												
OBSCN	84033	broad.mit.edu	37	1	228556588	228556588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228556588G>A	uc009xez.1	+	89	19977	c.19933G>A	c.(19933-19935)GAC>AAC	p.D6645N	OBSCN_uc001hsr.1_Missense_Mutation_p.D1274N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6645	Protein kinase 1.				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)				CGAAGCCTCCGACATTTGGTG	0.632000												
TTC13	79573	broad.mit.edu	37	1	231061267	231061267	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:231061267G>A	uc001huf.3	-	13	1615	c.1584C>T	c.(1582-1584)CAC>CAT	p.H528H	TTC13_uc009xfi.2_Silent_p.H475H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.H475H|TTC13_uc009xfk.1_Silent_p.H418H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	528							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GAATACCTCTGTGTATTCTCT	0.388000												
C1orf131	128061	broad.mit.edu	37	1	231362504	231362504	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:231362504T>G	uc001hun.1	-	5	711	c.674A>C	c.(673-675)AAG>ACG	p.K225T	C1orf131_uc001hul.2_Missense_Mutation_p.K225T|C1orf131_uc001hum.2_Missense_Mutation_p.K224T|C1orf131_uc010pwd.1_Missense_Mutation_p.K224T	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	hypothetical protein LOC128061	225	Lys-rich.									central_nervous_system(1)|skin(1)	2	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTCTTCCTTTGCTGCCTT	0.398000												
SIPA1L2	57568	broad.mit.edu	37	1	232539885	232539885	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:232539885T>C	uc001hvg.2	-	18	4960	c.4802A>G	c.(4801-4803)CAC>CGC	p.H1601R	SIPA1L2_uc001hvf.2_Intron	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1601					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATAGGACGTGTGGTGACAGAG	0.433000												
SIPA1L2	57568	broad.mit.edu	37	1	232574927	232574927	+	Missense_Mutation	SNP	C	C	T	rs143814948	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:232574927C>T	uc001hvg.2	-	13	4116	c.3958G>A	c.(3958-3960)GCG>ACG	p.A1320T	SIPA1L2_uc001hvf.2_Missense_Mutation_p.A394T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1320					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGGTGGACGCGTAGCCATGC	0.607000												
TBCE	6905	broad.mit.edu	37	1	235594095	235594095	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:235594095T>G	uc001hwz.1	+	7	759	c.636T>G	c.(634-636)AAT>AAG	p.N212K	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.N212K|TBCE_uc010pxr.1_Missense_Mutation_p.N212K|TBCE_uc001hxb.1_Missense_Mutation_p.N99K	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	212	LRR 3.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TAGTCCTCAATCAAACAGGAA	0.308000												
HEATR1	55127	broad.mit.edu	37	1	236744679	236744679	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:236744679G>A	uc001hyd.1	-	20	2723	c.2598C>T	c.(2596-2598)TTC>TTT	p.F866F	HEATR1_uc009xgh.1_Silent_p.F109F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	866					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)			AAACAGAACAGAACTTGAATA	0.353000												
KMO	8564	broad.mit.edu	37	1	241712984	241712984	+	Silent	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:241712984A>T	uc009xgp.2	+	3	197	c.132A>T	c.(130-132)CGA>CGT	p.R44R	KMO_uc001hyy.2_Silent_p.R44R|KMO_uc009xgo.1_Silent_p.R44R	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	44					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CAGATACTCGAGTGGCTACCT	0.448000												
OR2M5	127059	broad.mit.edu	37	1	248309019	248309019	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248309019T>C	uc010pze.1	+	1	570	c.570T>C	c.(568-570)AAT>AAC	p.N190N		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTCATGCAATGACACATCAA	0.413000												
OR2T33	391195	broad.mit.edu	37	1	248436928	248436928	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248436928T>A	uc010pzi.1	-	1	189	c.189A>T	c.(187-189)CAA>CAT	p.Q63H		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGGGAAAGTTGGCTCAGGA	0.547000												
OR2T11	127077	broad.mit.edu	37	1	248790195	248790195	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:248790195G>T	uc001ier.1	-	1	235	c.235C>A	c.(235-237)CTG>ATG	p.L79M		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTCTGCCAGGAGTTTTGGG	0.493000												
ZNF672	79894	broad.mit.edu	37	1	249142338	249142338	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:249142338G>A	uc001iex.2	+	4	1560	c.865G>A	c.(865-867)GGC>AGC	p.G289S		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	289	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCCACTTGCGGCAAGGGTTT	0.697000												
ZNF692	55657	broad.mit.edu	37	1	249151439	249151439	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:249151439G>A	uc001ifc.1	-	4	636	c.469C>T	c.(469-471)CTT>TTT	p.L157F	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.L157F|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.L157F|ZNF692_uc010pzr.1_Missense_Mutation_p.L162F	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTACCTGCAAGCTCCTGCCCA	0.502000												
TUBB8	347688	broad.mit.edu	37	10	93798	93798	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:93798G>A	uc001ifi.2	-	4	534	c.534C>T	c.(532-534)ACC>ACT	p.T178T	TUBB8_uc009xhe.2_Silent_p.T141T|TUBB8_uc010pzs.1_Silent_p.T106T	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	178					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCCACCACGGTGTCCGACA	0.522000												
TUBAL3	79861	broad.mit.edu	37	10	5437355	5437355	+	Missense_Mutation	SNP	C	C	T	rs150997870		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:5437355C>T	uc001ihy.2	-	3	371	c.331G>A	c.(331-333)GCG>ACG	p.A111T	TUBAL3_uc001ihz.2_Missense_Mutation_p.A71T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	111					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						CGGCCTCGCGCGTAATTGTTA	0.622000												
PFKFB3	5209	broad.mit.edu	37	10	6262768	6262768	+	Silent	SNP	C	C	T	rs145448801		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:6262768C>T	uc001ije.2	+	8	1155	c.771C>T	c.(769-771)AAC>AAT	p.N257N	PFKFB3_uc001ijd.2_Silent_p.N237N|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.N271N|PFKFB3_uc001ijf.2_Silent_p.N257N	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	257	Fructose-2,6-bisphosphatase.				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						ACGGCGAGAACGAGCACAACC	0.652000												
PFKFB3	5209	broad.mit.edu	37	10	6266162	6266162	+	Missense_Mutation	SNP	C	C	T	rs144329353		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:6266162C>T	uc001ije.2	+	13	1711	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	PFKFB3_uc001ijd.2_Missense_Mutation_p.R423W|PFKFB3_uc009xii.2_Intron|PFKFB3_uc010qaw.1_Missense_Mutation_p.R457W|PFKFB3_uc001ijf.2_Missense_Mutation_p.R443W|PFKFB3_uc001ijg.2_RNA|PFKFB3_uc009xij.2_RNA|PFKFB3_uc009xik.2_RNA|PFKFB3_uc009xil.2_RNA	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	443	Fructose-2,6-bisphosphatase.				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						CTGCACACACCGGGAGAGGTC	0.637000												
NSUN6	221078	broad.mit.edu	37	10	18905144	18905144	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:18905144G>T	uc010qcp.1	-	4	808	c.390C>A	c.(388-390)GTC>GTA	p.V130V		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	130	PUA.						methyltransferase activity|RNA binding			ovary(2)	2						CTGGGGCATAGACATGGGCTC	0.348000												
ARMC3	219681	broad.mit.edu	37	10	23257331	23257331	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:23257331A>T	uc001irm.3	+	8	912	c.829A>T	c.(829-831)AAA>TAA	p.K277*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.K277*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.K14*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	277	ARM 7.						binding				0						AGGGGGTCTTAAAAAGCTCCT	0.393000												
YME1L1	10730	broad.mit.edu	37	10	27434472	27434472	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:27434472T>C	uc001iti.2	-	4	569	c.387A>G	c.(385-387)GGA>GGG	p.G129G	YME1L1_uc001itj.2_Silent_p.G72G|YME1L1_uc010qdl.1_Silent_p.G72G|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_3'UTR	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	129					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						GATCAATCTGTCCAATTTTTA	0.363000												
SVIL	6840	broad.mit.edu	37	10	29770534	29770534	+	Silent	SNP	G	G	A	rs137968783	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:29770534G>A	uc001iut.1	-	28	5832	c.5079C>T	c.(5077-5079)CCC>CCT	p.P1693P	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.P607P|SVIL_uc001iuu.1_Silent_p.P1267P|SVIL_uc009xlc.2_Silent_p.P485P	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1693					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CAAGTTCCCCGGGGTTCTTCT	0.458000												
ARHGAP12	94134	broad.mit.edu	37	10	32150345	32150345	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32150345A>G	uc001ivz.1	-	4	1196	c.926T>C	c.(925-927)TTC>TCC	p.F309S	ARHGAP12_uc001ivy.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xls.2_Missense_Mutation_p.F307S|ARHGAP12_uc001iwb.1_Missense_Mutation_p.F307S|ARHGAP12_uc001iwc.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xlq.1_Missense_Mutation_p.F307S|ARHGAP12_uc001iwd.1_Missense_Mutation_p.F307S|ARHGAP12_uc009xlr.1_Missense_Mutation_p.F307S	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	309					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				TGGATTTTGGAAATCTCCTTT	0.413000												
GJD4	219770	broad.mit.edu	37	10	35897009	35897009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:35897009C>T	uc001iyy.1	+	2	726	c.568C>T	c.(568-570)CGG>TGG	p.R190W		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	190	Extracellular (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTACGTGTCGCGGCCCACAGA	0.652000												
ALOX5	240	broad.mit.edu	37	10	45941064	45941064	+	Missense_Mutation	SNP	C	C	T	rs151270582		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:45941064C>T	uc001jce.2	+	14	2053	c.1954C>T	c.(1954-1956)CGC>TGC	p.R652C	ALOX5_uc009xmt.2_Missense_Mutation_p.R620C|ALOX5_uc010qfg.1_Missense_Mutation_p.R595C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	652	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)	GATTGCTGAGCGCAACAAGAA	0.542000												
GPRIN2	9721	broad.mit.edu	37	10	46999285	46999285	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:46999285T>G	uc001jec.2	+	3	540	c.405T>G	c.(403-405)GGT>GGG	p.G135G	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	135											0						GACACAGTGGTGCTCGGAAGG	0.662000												
LRRC18	474354	broad.mit.edu	37	10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50122058C>T	uc001jhd.2	-	1	223	c.143G>A	c.(142-144)CGC>CAC	p.R48H	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R48H	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48	LRR 1.					cytoplasm				ovary(1)|pancreas(1)	2						GTCACTAAGGCGCAGAATACA	0.507000												
SLC18A3	6572	broad.mit.edu	37	10	50820285	50820285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50820285G>A	uc001jhw.2	+	1	1939	c.1499G>A	c.(1498-1500)CGT>CAT	p.R500H	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	500	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GTGCGCCTGCGTGAGCGTCCT	0.652000												
CHAT	1103	broad.mit.edu	37	10	50835782	50835782	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:50835782G>A	uc001jhz.2	+	7	1215	c.1062G>A	c.(1060-1062)ACG>ACA	p.T354T	CHAT_uc001jhv.1_Silent_p.T236T|CHAT_uc001jhx.1_Silent_p.T236T|CHAT_uc001jhy.1_Silent_p.T236T|CHAT_uc001jia.2_Silent_p.T236T|CHAT_uc010qgs.1_Silent_p.T236T	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	354					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCTGCTGACGTCTGACGGGA	0.592000												
CSTF2T	23283	broad.mit.edu	37	10	53458192	53458192	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:53458192C>T	uc001jjp.2	-	1	1164	c.1118G>A	c.(1117-1119)CGT>CAT	p.R373H	PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit	373	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			ovary(1)	1				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGAAGGGCCACGAGTGTCATG	0.562000												
TMEM26	219623	broad.mit.edu	37	10	63191022	63191022	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:63191022C>T	uc001jlo.2	-	3	708	c.339G>A	c.(337-339)TTG>TTA	p.L113L	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	113						integral to membrane					0	Prostate(12;0.0112)					CATTGGATGTCAATGTTTGAT	0.408000												
JMJD1C	221037	broad.mit.edu	37	10	64966870	64966870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:64966870C>T	uc001jmn.2	-	10	4859	c.4559G>A	c.(4558-4560)AGC>AAC	p.S1520N	JMJD1C_uc001jml.2_Missense_Mutation_p.S1301N|JMJD1C_uc001jmm.2_Missense_Mutation_p.S1232N|JMJD1C_uc010qiq.1_Missense_Mutation_p.S1338N|JMJD1C_uc009xpi.2_Missense_Mutation_p.S1338N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.S557N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1520					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)					GATTACAGTGCTATCCAGAGG	0.418000												
CTNNA3	29119	broad.mit.edu	37	10	68138968	68138968	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:68138968G>A	uc009xpn.1	-	12	1797	c.1674C>T	c.(1672-1674)TAC>TAT	p.Y558Y	CTNNA3_uc001jmw.2_Silent_p.Y558Y	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	558					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						CCCCTGGCTCGTAACTGTCCA	0.468000												
DDX21	9188	broad.mit.edu	37	10	70730038	70730038	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:70730038C>T	uc001jov.1	+	8	1408	c.1318C>T	c.(1318-1320)CGC>TGC	p.R440C	DDX21_uc001jow.1_Missense_Mutation_p.R372C	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	440	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						TCATCAAGGACGCACTATCAT	0.453000												
TSPAN15	23555	broad.mit.edu	37	10	71243576	71243576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:71243576G>A	uc001jpo.1	+	2	351	c.226G>A	c.(226-228)GTC>ATC	p.V76I		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	76	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						CATGTTCATGGTCTCCTTCAT	0.562000												
C10orf35	219738	broad.mit.edu	37	10	71392706	71392706	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:71392706T>C	uc001jpq.3	+	4	427	c.257T>C	c.(256-258)GTG>GCG	p.V86A		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	hypothetical protein LOC219738	86						integral to membrane				ovary(1)|skin(1)	2						AACCATGCTGTGGAGCCGGTG	0.602000												
UNC5B	219699	broad.mit.edu	37	10	73053236	73053236	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73053236G>A	uc001jro.2	+	12	2292	c.1847G>A	c.(1846-1848)CGC>CAC	p.R616H	UNC5B_uc001jrp.2_Missense_Mutation_p.R605H	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	616	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CTGCTGTGCCGCCCCGTCATC	0.637000												
SLC29A3	55315	broad.mit.edu	37	10	73115851	73115851	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73115851C>T	uc001jrr.3	+	5	681	c.624C>T	c.(622-624)GGC>GGT	p.G208G	SLC29A3_uc001jrs.3_Silent_p.G208G|SLC29A3_uc010qjq.1_Silent_p.G62G|SLC29A3_uc001jrt.3_Silent_p.G2G|SLC29A3_uc001jru.3_Silent_p.G20G	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	208	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						GAGCCATGGGCGGGACGGTCA	0.637000												
CDH23	64072	broad.mit.edu	37	10	73558151	73558151	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:73558151G>A	uc001jrx.3	+	48	7247	c.6870G>A	c.(6868-6870)ACG>ACA	p.T2290T	CDH23_uc001jsg.3_Silent_p.T50T|CDH23_uc001jsh.3_Silent_p.T50T|CDH23_uc001jsi.3_Silent_p.T50T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2290	Cadherin 21.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ATGACAATACGCCCCAGTTCA	0.617000												
USP54	159195	broad.mit.edu	37	10	75277357	75277357	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75277357G>T	uc001juo.2	-	18	2844	c.2827C>A	c.(2827-2829)CCA>ACA	p.P943T	USP54_uc010qkk.1_Missense_Mutation_p.P125T|USP54_uc001juk.2_Missense_Mutation_p.P31T|USP54_uc001jul.2_Missense_Mutation_p.P31T|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	943					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTGTGCTGTGGGGCAGATGAC	0.502000												
USP54	159195	broad.mit.edu	37	10	75290072	75290072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75290072G>A	uc001juo.2	-	12	1674	c.1657C>T	c.(1657-1659)CGT>TGT	p.R553C	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.R553C|USP54_uc010qkl.1_Missense_Mutation_p.R553C	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	553					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.G553D(1)		breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					TCCCAGTCACGAGAGTGTAAA	0.502000												
KIAA0913	23053	broad.mit.edu	37	10	75557339	75557339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:75557339G>A	uc009xrl.2	+	18	3655	c.3623G>A	c.(3622-3624)CGG>CAG	p.R1208Q	KIAA0913_uc001jve.2_Missense_Mutation_p.R1213Q|KIAA0913_uc001jvf.2_Missense_Mutation_p.R1208Q|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.R643Q|KIAA0913_uc010qkr.1_Missense_Mutation_p.R631Q|KIAA0913_uc001jvj.2_Missense_Mutation_p.R631Q|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1208							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGAGGAGCCCGGGCGAAGACT	0.597000												
MYST4	23522	broad.mit.edu	37	10	76788343	76788343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:76788343G>A	uc001jwn.1	+	18	4254	c.3761G>A	c.(3760-3762)CGC>CAC	p.R1254H	MYST4_uc001jwo.1_Missense_Mutation_p.R962H|MYST4_uc001jwp.1_Missense_Mutation_p.R1071H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1254					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)					GGAACAAAGCGCGGTCTATCT	0.438000			T	CREBBP	AML							
MYST4	23522	broad.mit.edu	37	10	76789861	76789861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:76789861C>T	uc001jwn.1	+	18	5772	c.5279C>T	c.(5278-5280)CCG>CTG	p.P1760L	MYST4_uc001jwo.1_Missense_Mutation_p.P1468L|MYST4_uc001jwp.1_Missense_Mutation_p.P1577L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1760	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)					GAGAGGCCTCCGAGCAGCAGC	0.612000			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78844406	78844406	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:78844406C>T	uc001jxn.2	-	12	1689	c.1512G>A	c.(1510-1512)TCG>TCA	p.S504S	KCNMA1_uc001jxj.2_Silent_p.S504S|KCNMA1_uc001jxk.1_Silent_p.S119S|KCNMA1_uc009xrt.1_Silent_p.S324S|KCNMA1_uc001jxl.1_Silent_p.S158S|KCNMA1_uc001jxo.2_Silent_p.S504S|KCNMA1_uc001jxm.2_Silent_p.S504S|KCNMA1_uc001jxq.2_Silent_p.S504S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	504	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCATGATATTCGAGGCATCCT	0.532000												
POLR3A	11128	broad.mit.edu	37	10	79741973	79741973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:79741973C>T	uc001jzn.2	-	28	3792	c.3698G>A	c.(3697-3699)CGG>CAG	p.R1233Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1233					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)			CATGACTGCCCGCAGGTTATC	0.567000												
FAM190B	54462	broad.mit.edu	37	10	86273259	86273259	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:86273259G>T	uc001kdh.1	+	11	2659	c.2465G>T	c.(2464-2466)GGG>GTG	p.G822V	FAM190B_uc010qmd.1_Nonsense_Mutation_p.G794*|FAM190B_uc001kdi.1_5'UTR|FAM190B_uc010qme.1_Missense_Mutation_p.G249V	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	822										ovary(3)|skin(1)	4						TCACACCCAGGGAAAACTAAT	0.468000												
GRID1	2894	broad.mit.edu	37	10	87898668	87898668	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:87898668T>A	uc001kdl.1	-	4	735	c.634A>T	c.(634-636)ATG>TTG	p.M212L	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	212	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCTGTCTTCATCGTGGTGAAG	0.567000										Multiple Myeloma(13;0.14)		
FAM22A	728118	broad.mit.edu	37	10	88994221	88994221	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:88994221A>G	uc001kek.2	+	7	2776	c.2393A>G	c.(2392-2394)CAT>CGT	p.H798R	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	798											0						CAGGGAACTCATCAGTTCCCA	0.592000												
IFIT3	3437	broad.mit.edu	37	10	91098638	91098638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:91098638C>T	uc001kgf.2	+	2	455	c.226C>T	c.(226-228)CAA>TAA	p.Q76*	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Nonsense_Mutation_p.Q76*	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	76	TPR 1.				type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1						ATGCTTACGGCAAGCTGAAGA	0.443000												
EXOC6	54536	broad.mit.edu	37	10	94818016	94818016	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:94818016T>C	uc001kig.2	+	22	2385	c.2319T>C	c.(2317-2319)GCT>GCC	p.A773A	EXOC6_uc010qnr.1_Silent_p.A789A|EXOC6_uc001kie.2_Silent_p.A768A|EXOC6_uc009xub.2_Silent_p.A772A|EXOC6_uc009xuc.2_Silent_p.A670A|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.A347A	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	773					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				ATATATTTGCTCAGTTCAGGA	0.373000												
CRTAC1	55118	broad.mit.edu	37	10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:99696002C>T	uc001kou.1	-	3	702	c.346G>A	c.(346-348)GGG>AGG	p.G116R	CRTAC1_uc001kov.2_Missense_Mutation_p.G105R|CRTAC1_uc001kot.1_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	116	FG-GAP 2; atypical.					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)		GCTGTGACCCCGATGGCGTTC	0.632000												
LOXL4	84171	broad.mit.edu	37	10	100013355	100013355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:100013355C>T	uc001kpa.1	-	11	1941	c.1790G>A	c.(1789-1791)CGT>CAT	p.R597H		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	597	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGTCTTTGGACGAAAGTCAGT	0.562000												
SEC31B	25956	broad.mit.edu	37	10	102256140	102256140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:102256140G>A	uc001krc.1	-	18	2287	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	SEC31B_uc010qpo.1_Missense_Mutation_p.R728W|SEC31B_uc001krd.1_Missense_Mutation_p.R266W|SEC31B_uc001krf.1_Missense_Mutation_p.R266W|SEC31B_uc001kre.1_Missense_Mutation_p.R266W|SEC31B_uc001krg.1_Missense_Mutation_p.R298W	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	729					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGGACCCCGCAGTTGCTCC	0.587000												
PITX3	5309	broad.mit.edu	37	10	103990294	103990294	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:103990294A>G	uc001kuu.1	-	4	1040	c.886T>C	c.(886-888)TAC>CAC	p.Y296H		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	296					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCACGGCGTACTGGCACGGA	0.672000												
PSD	5662	broad.mit.edu	37	10	104174761	104174761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:104174761G>A	uc001kvg.1	-	4	1510	c.983C>T	c.(982-984)GCC>GTC	p.A328V	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.A328V	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	328					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTGGGTAGGCAGTGCCTGG	0.662000												
CALHM2	51063	broad.mit.edu	37	10	105207210	105207210	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:105207210C>A	uc001kwz.2	-	3	1057	c.671G>T	c.(670-672)CGC>CTC	p.R224L	CALHM2_uc001kxa.2_Missense_Mutation_p.R224L|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.R224L	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	224						integral to membrane				skin(1)	1						CTCATTGGCGCGGTACTGCGC	0.622000												
ADRA2A	150	broad.mit.edu	37	10	112838476	112838476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:112838476G>A	uc001kzo.2	+	1	1687	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	226	Cytoplasmic (By similarity).				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)	GCCAAGCGTCGCACCCGCGTG	0.706000												
TCF7L2	6934	broad.mit.edu	37	10	114905796	114905796	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:114905796C>T	uc001lae.3	+	8	1322	c.815C>T	c.(814-816)ACG>ATG	p.T272M	TCF7L2_uc001lac.3_Missense_Mutation_p.T249M|TCF7L2_uc010qrk.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrl.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrm.1_Missense_Mutation_p.T272M|TCF7L2_uc010qrn.1_Missense_Mutation_p.T215M|TCF7L2_uc001lad.3_Missense_Mutation_p.T245M|TCF7L2_uc001lag.3_Missense_Mutation_p.T296M|TCF7L2_uc001laf.3_Missense_Mutation_p.T249M|TCF7L2_uc010qro.1_Missense_Mutation_p.T249M|TCF7L2_uc001lah.2_Missense_Mutation_p.T249M|TCF7L2_uc010qrp.1_Missense_Mutation_p.T249M|TCF7L2_uc010qrq.1_Missense_Mutation_p.T245M|TCF7L2_uc010qrr.1_Missense_Mutation_p.T187M|TCF7L2_uc010qrs.1_Missense_Mutation_p.T143M|TCF7L2_uc010qrt.1_Missense_Mutation_p.T143M|TCF7L2_uc010qru.1_Missense_Mutation_p.T166M|TCF7L2_uc010qrv.1_Missense_Mutation_p.T89M|TCF7L2_uc010qrw.1_Translation_Start_Site|TCF7L2_uc010qrx.1_Missense_Mutation_p.T129M	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	272	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACCCAATCACGACAGGAGGA	0.517000												
C10orf118	55088	broad.mit.edu	37	10	115891802	115891802	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:115891802A>G	uc001lbb.1	-	11	2449	c.1797T>C	c.(1795-1797)AAT>AAC	p.N599N	C10orf118_uc009xyd.1_Silent_p.N197N|C10orf118_uc001lbc.1_Silent_p.N599N|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	599	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GAAGCTGTGCATTCTTACTAG	0.378000												
PDZD8	118987	broad.mit.edu	37	10	119044515	119044515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:119044515G>A	uc001lde.1	-	5	1928	c.1729C>T	c.(1729-1731)CAA>TAA	p.Q577*		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	577	Pro-rich.				intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TTTGACACTTGTGCTGGGTCT	0.473000												
PRLHR	2834	broad.mit.edu	37	10	120354633	120354633	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:120354633C>T	uc001ldp.1	-	2	263	c.124G>A	c.(124-126)GCG>ACG	p.A42T		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	42	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGAGCGTCCGCGCCAGCCACC	0.672000												
WDR11	55717	broad.mit.edu	37	10	122660586	122660586	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:122660586A>G	uc010qtf.1	+	21	2901	c.2663A>G	c.(2662-2664)CAA>CGA	p.Q888R	WDR11_uc010qte.1_Missense_Mutation_p.Q490R|WDR11_uc001lfd.1_Missense_Mutation_p.Q406R|WDR11_uc009xzn.2_Missense_Mutation_p.Q179R	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	888						integral to membrane					0						AATCTCCTCCAAGAACAGTTG	0.294000												
MMP21	118856	broad.mit.edu	37	10	127464267	127464267	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:127464267G>T	uc001liu.2	-	1	124	c.124C>A	c.(124-126)CGC>AGC	p.R42S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	42					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGGCCTGGCGCAGTGGGGAC	0.667000												
PTPRE	5791	broad.mit.edu	37	10	129870413	129870413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:129870413C>T	uc001lkb.2	+	16	1678	c.1399C>T	c.(1399-1401)CGA>TGA	p.R467*	PTPRE_uc009yat.2_Nonsense_Mutation_p.R478*|PTPRE_uc009yau.2_Nonsense_Mutation_p.R467*|PTPRE_uc001lkd.2_Nonsense_Mutation_p.R409*|PTPRE_uc010quq.1_Nonsense_Mutation_p.R368*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	467	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGACTTCAACCGAGTGATCCT	0.403000												
JAKMIP3	282973	broad.mit.edu	37	10	133963536	133963536	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:133963536C>T	uc001lkx.3	+	15	1998	c.1998C>T	c.(1996-1998)AAC>AAT	p.N666N	JAKMIP3_uc009yba.1_Silent_p.N103N	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGGCGATAACGCCGTAAGTG	0.607000												
JAKMIP3	282973	broad.mit.edu	37	10	133976761	133976761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:133976761G>A	uc001lkx.3	+	19	2263	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	JAKMIP3_uc009yba.1_Missense_Mutation_p.A192T	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCAGCAGGAGGCCGGGGCTAA	0.627000												
C10orf93	255352	broad.mit.edu	37	10	134752232	134752232	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:134752232A>G	uc001llt.1	-	5	473	c.397T>C	c.(397-399)TCA>CCA	p.S133P	C10orf93_uc001llu.2_Missense_Mutation_p.S133P	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	133							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)		TAGAGGACTGATGCATTGTAC	0.562000												
ZNF511	118472	broad.mit.edu	37	10	135125330	135125330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135125330G>A	uc001lml.1	+	5	690	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Missense_Mutation_p.R222Q|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGTGAGAGGCGGATCTACAGA	0.597000												
CYP2E1	1571	broad.mit.edu	37	10	135350651	135350651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135350651A>G	uc001lnj.1	+	7	1085	c.1052A>G	c.(1051-1053)GAT>GGT	p.D351G	CYP2E1_uc001lnk.1_Missense_Mutation_p.D214G|CYP2E1_uc009ybl.1_Missense_Mutation_p.D152G|CYP2E1_uc009ybm.1_Missense_Mutation_p.D5G|CYP2E1_uc001lnl.1_Missense_Mutation_p.D152G	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	351					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCCTACATGGATGCTGTGGTG	0.522000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ATHL1	80162	broad.mit.edu	37	11	292922	292922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:292922G>A	uc010qvu.1	+	7	1310	c.1195G>A	c.(1195-1197)GTG>ATG	p.V399M	ATHL1_uc001lor.3_Missense_Mutation_p.V222M|ATHL1_uc001los.1_Missense_Mutation_p.V399M|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	399					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGCTGGGACGTGGTCAGGGC	0.632000												
DEAF1	10522	broad.mit.edu	37	11	679801	679801	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:679801G>A	uc001lqq.1	-	8	1706	c.1013C>T	c.(1012-1014)TCG>TTG	p.S338L	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	338					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GATCTGTCCCGAGGGGGTCAC	0.652000												
MUC6	4588	broad.mit.edu	37	11	1031856	1031856	+	Missense_Mutation	SNP	C	C	T	rs148640037	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1031856C>T	uc001lsw.2	-	3	364	c.313G>A	c.(313-315)GTC>ATC	p.V105I		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	105	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		ACAGTGACGACGGAGGCCCCC	0.547000												
MUC2	4583	broad.mit.edu	37	11	1078296	1078296	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1078296A>G	uc001lsx.1	+	5	610	c.583A>G	c.(583-585)AAC>GAC	p.N195D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	195	VWFD 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)	GGAGTTTGGGAACATGCAGAA	0.662000												
TNNI2	7136	broad.mit.edu	37	11	1861852	1861852	+	Missense_Mutation	SNP	C	C	T	rs141603884		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:1861852C>T	uc010qxe.1	+	3	174	c.152C>T	c.(151-153)CCG>CTG	p.P51L	TNNI2_uc010qxc.1_Missense_Mutation_p.P49L|TNNI2_uc010qxd.1_Missense_Mutation_p.P49L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	51					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)		CACTGCCCGCCGCTGCATATC	0.662000												
NUP98	4928	broad.mit.edu	37	11	3697519	3697519	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:3697519G>T	uc001lyh.2	-	33	5564	c.5273C>A	c.(5272-5274)CCT>CAT	p.P1758H	NUP98_uc001lyi.2_Missense_Mutation_p.P1684H|NUP98_uc001lyg.2_Missense_Mutation_p.P723H	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1775					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)		GACTCGCTGAGGGTCTGGTGT	0.567000			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
STIM1	6786	broad.mit.edu	37	11	4112898	4112898	+	Missense_Mutation	SNP	G	G	A	rs140080199	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:4112898G>A	uc001lyv.2	+	12	2496	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	STIM1_uc009yef.2_3'UTR|STIM1_uc009yeg.2_Missense_Mutation_p.R470H	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	643	Cytoplasmic (Potential).|Microtubule tip localization signal.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CGAAACACACGCATTCCCCAC	0.592000												
TRIM21	6737	broad.mit.edu	37	11	4406849	4406849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:4406849C>T	uc001lyy.1	-	7	1207	c.1094G>A	c.(1093-1095)AGG>AAG	p.R365K		NM_003141	NP_003132	P19474	RO52_HUMAN	tripartite motif protein 21	365	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGCCCCTTCCTGCGCACAGA	0.527000												
FAM160A2	84067	broad.mit.edu	37	11	6239917	6239917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6239917C>T	uc001mcl.3	-	8	1707	c.1348G>A	c.(1348-1350)GCT>ACT	p.A450T	FAM160A2_uc001mck.3_Missense_Mutation_p.A450T|FAM160A2_uc001mcm.2_Missense_Mutation_p.A450T	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	450					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AACTTGTCAGCTGCTCGTCCA	0.562000												
OR2D3	120775	broad.mit.edu	37	11	6942872	6942872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6942872G>A	uc010rav.1	+	1	640	c.640G>A	c.(640-642)GCC>ACC	p.A214T		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACAGAAATGGCCATCTTTTC	0.468000												
PPFIBP2	8495	broad.mit.edu	37	11	7663564	7663564	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:7663564A>G	uc001mfj.3	+	17	1941	c.1553A>G	c.(1552-1554)GAC>GGC	p.D518G	PPFIBP2_uc010rbb.1_Missense_Mutation_p.D441G|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.D452G|PPFIBP2_uc010rbd.1_Missense_Mutation_p.D360G|PPFIBP2_uc010rbe.1_Missense_Mutation_p.D406G|PPFIBP2_uc001mfl.3_Missense_Mutation_p.D375G|PPFIBP2_uc009yfj.1_Missense_Mutation_p.D162G	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	518					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTCTACACTGACACGCTGGGG	0.532000												
CTR9	9646	broad.mit.edu	37	11	10789974	10789974	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:10789974A>T	uc001mja.2	+	16	2194	c.2045A>T	c.(2044-2046)GAT>GTT	p.D682V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	682	TPR 15.				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)		GATATTAGTGATGTGTGGCTG	0.393000												
MICAL2	9645	broad.mit.edu	37	11	12234929	12234929	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:12234929A>T	uc001mjz.2	+	7	1107	c.819A>T	c.(817-819)AAA>AAT	p.K273N	MICAL2_uc010rch.1_Missense_Mutation_p.K273N|MICAL2_uc001mka.2_Missense_Mutation_p.K273N|MICAL2_uc010rci.1_Missense_Mutation_p.K273N|MICAL2_uc001mkb.2_Missense_Mutation_p.K273N|MICAL2_uc001mkc.2_Missense_Mutation_p.K273N|MICAL2_uc001mkd.2_Missense_Mutation_p.K102N|MICAL2_uc001mke.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	273						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCAATCAGAAATTTTTTCAGG	0.468000												
ARNTL	406	broad.mit.edu	37	11	13393879	13393879	+	Silent	SNP	C	C	T	rs144535593		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:13393879C>T	uc001mkr.2	+	13	1398	c.990C>T	c.(988-990)AAC>AAT	p.N330N	ARNTL_uc001mko.2_Silent_p.N286N|ARNTL_uc001mkp.2_Silent_p.N329N|ARNTL_uc001mkq.2_Silent_p.N329N|ARNTL_uc001mks.2_Silent_p.N287N|ARNTL_uc001mkt.2_Silent_p.N330N|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Silent_p.N287N|ARNTL_uc001mkw.2_Silent_p.N287N|ARNTL_uc001mkx.2_Silent_p.N328N	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	330	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		AACCAGTGAACGGGGAAATCA	0.468000												
PTH	5741	broad.mit.edu	37	11	13514363	13514363	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:13514363T>C	uc001mlb.2	-	2	155	c.40A>G	c.(40-42)ATG>GTG	p.M14V		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	14					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ATTGCCAACATGACAATCATA	0.303000												
PLEKHA7	144100	broad.mit.edu	37	11	16837793	16837793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:16837793G>A	uc001mmo.2	-	12	1900	c.1885C>T	c.(1885-1887)CGA>TGA	p.R629*	PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.R629*|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.R203*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.R337*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	629	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						ATGGAGCGTCGGTCCACATGA	0.308000												
NAV2	89797	broad.mit.edu	37	11	20122554	20122554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20122554G>A	uc001mpr.3	+	32	6623	c.6262G>A	c.(6262-6264)GTC>ATC	p.V2088I	NAV2_uc001mpp.2_Missense_Mutation_p.V2021I|NAV2_uc009yhx.2_Missense_Mutation_p.V1149I|NAV2_uc009yhz.2_Missense_Mutation_p.V730I|NAV2_uc001mpu.2_Missense_Mutation_p.V523I	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2144						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCAGCGCTACGTCTCCCTCCT	0.552000												
NAV2	89797	broad.mit.edu	37	11	20136150	20136150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20136150C>T	uc001mpr.3	+	37	7343	c.6982C>T	c.(6982-6984)CGC>TGC	p.R2328C	NAV2_uc001mpp.2_Missense_Mutation_p.R2261C|NAV2_uc009yhx.2_Missense_Mutation_p.R1389C|NAV2_uc009yhz.2_Missense_Mutation_p.R970C|NAV2_uc001mpu.2_Missense_Mutation_p.R763C|NAV2_uc001mpv.2_Missense_Mutation_p.R87C	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	2384						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTATGGAAGGCGCGCCCCCTG	0.572000												
SLC6A5	9152	broad.mit.edu	37	11	20628625	20628625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:20628625T>C	uc001mqd.2	+	4	1025	c.752T>C	c.(751-753)CTG>CCG	p.L251P	SLC6A5_uc009yic.2_Missense_Mutation_p.L16P	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	251					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GAGGTGTCGCTGGGCCAGTTT	0.577000												
MUC15	143662	broad.mit.edu	37	11	26586992	26586992	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:26586992G>A	uc001mqx.2	-	2	680	c.414C>T	c.(412-414)CCC>CCT	p.P138P	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.P165P|MUC15_uc001mqy.2_Silent_p.P165P	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	138	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTGTAGCATTGGGATGTGCTG	0.443000												
LGR4	55366	broad.mit.edu	37	11	27389978	27389978	+	Silent	SNP	C	C	T	rs138381781	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:27389978C>T	uc001mrj.3	-	18	2777	c.2292G>A	c.(2290-2292)GCG>GCA	p.A764A	LGR4_uc001mrk.3_Silent_p.A740A	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	764	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						ATGAAAAAAACGCCACAGGGC	0.408000												
LGR4	55366	broad.mit.edu	37	11	27403790	27403790	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:27403790T>C	uc001mrj.3	-	7	1188	c.703A>G	c.(703-705)AAT>GAT	p.N235D	LGR4_uc001mrk.3_Missense_Mutation_p.N211D	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	235	Extracellular (Potential).|LRR 8.					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CCCAAGTTATTATAATTCAAG	0.313000												
DCDC1	341019	broad.mit.edu	37	11	31327282	31327282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:31327282C>T	uc001msv.2	-	6	836	c.634G>A	c.(634-636)GCA>ACA	p.A212T	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	212	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					ACTCGTCTTGCGGCCATGTTC	0.438000												
PAX6	5080	broad.mit.edu	37	11	31822335	31822335	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:31822335A>G	uc001mtd.3	-	6	1317	c.427T>C	c.(427-429)TAT>CAT	p.Y143H	PAX6_uc001mte.3_Missense_Mutation_p.Y143H|PAX6_uc001mtg.3_Missense_Mutation_p.Y157H|PAX6_uc001mtf.3_Missense_Mutation_p.Y143H|PAX6_uc001mth.3_Missense_Mutation_p.Y143H|PAX6_uc009yjr.2_Missense_Mutation_p.Y143H	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	143	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					AGTTTATCATACATGCCGTCT	0.517000									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
CAT	847	broad.mit.edu	37	11	34489885	34489885	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:34489885G>A	uc001mvm.2	+	11	1460	c.1377G>A	c.(1375-1377)CTG>CTA	p.L459L	CAT_uc001mvn.2_Silent_p.L68L	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	459					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GGAAACGTCTGTGTGAGAACA	0.478000												
EHF	26298	broad.mit.edu	37	11	34668230	34668230	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:34668230C>T	uc001mvr.1	+	3	453	c.342C>T	c.(340-342)AAC>AAT	p.N114N	EHF_uc009yke.1_Silent_p.N114N|EHF_uc009ykf.1_Silent_p.N117N	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	114	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			TGAAGTGGAACGGTGACTCTC	0.557000												
CD44	960	broad.mit.edu	37	11	35211581	35211581	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:35211581C>T	uc001mvu.2	+	5	1070	c.636C>T	c.(634-636)ATC>ATT	p.I212I	CD44_uc001mvv.2_Silent_p.I212I|CD44_uc001mvw.2_Silent_p.I212I|CD44_uc001mvx.2_Silent_p.I212I|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Silent_p.I212I|CD44_uc010rer.1_Silent_p.I212I|CD44_uc009ykh.2_RNA|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_RNA|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	212	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GTCCCTGGATCACCGACAGCA	0.502000												
LRRC4C	57689	broad.mit.edu	37	11	40136717	40136717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:40136717G>A	uc001mxa.1	-	2	3090	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	LRRC4C_uc001mxc.1_Missense_Mutation_p.R372W|LRRC4C_uc001mxd.1_Missense_Mutation_p.R372W|LRRC4C_uc001mxb.1_Missense_Mutation_p.R372W	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	376	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGGAGGCCCGACATTTCAGC	0.517000												
HSD17B12	51144	broad.mit.edu	37	11	43861602	43861602	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:43861602C>T	uc001mxq.3	+	9	907	c.672C>T	c.(670-672)GGC>GGT	p.G224G		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	224					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0						GGAGCAAGGGCGTCTTTGTGC	0.433000												
ALX4	60529	broad.mit.edu	37	11	44286458	44286458	+	Silent	SNP	C	C	T	rs149365713		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:44286458C>T	uc001myb.2	-	4	1286	c.1182G>A	c.(1180-1182)GCG>GCA	p.A394A		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	394	OAR.				hair follicle development						0						TGCGGAGGGCCGCGATGCTCG	0.672000												
PRDM11	56981	broad.mit.edu	37	11	45204538	45204538	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:45204538T>C	uc001myo.2	+	5	701	c.452T>C	c.(451-453)ATG>ACG	p.M151T		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	151	SET.									upper_aerodigestive_tract(1)	1						CCACAGGGCATGGAGGTGGTC	0.617000												
CHST1	8534	broad.mit.edu	37	11	45672017	45672017	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:45672017G>A	uc001mys.1	-	4	1128	c.457C>T	c.(457-459)CGC>TGC	p.R153C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	153	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCCGCGGCGGAAGATCCTG	0.692000												
F2	2147	broad.mit.edu	37	11	46749689	46749689	+	Missense_Mutation	SNP	G	G	A	rs121918485		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:46749689G>A	uc001ndf.3	+	10	1317	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	425	Peptidase S1.		R -> C (in FA2D; Quick-1).		activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CTTCTGGTGCGCATTGGCAAG	0.642000												
C11orf49	79096	broad.mit.edu	37	11	47159253	47159253	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47159253C>T	uc001ndp.2	+	4	444	c.338C>T	c.(337-339)CCG>CTG	p.P113L	C11orf49_uc001nds.2_Missense_Mutation_p.P113L|C11orf49_uc001ndq.2_Missense_Mutation_p.P113L|C11orf49_uc001ndr.2_Missense_Mutation_p.P113L|C11orf49_uc010rgx.1_Missense_Mutation_p.P16L|C11orf49_uc010rgy.1_Missense_Mutation_p.P104L|C11orf49_uc010rgz.1_Missense_Mutation_p.P29L	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN	hypothetical protein LOC79096 isoform 3	113											0						CCTGATTTCCCGCTGGAGCTC	0.478000												
MADD	8567	broad.mit.edu	37	11	47308066	47308066	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47308066G>A	uc001ner.1	+	15	2825	c.2634G>A	c.(2632-2634)ACG>ACA	p.T878T	MADD_uc001neq.2_Silent_p.T878T|MADD_uc001nev.1_Silent_p.T835T|MADD_uc001nes.1_Silent_p.T835T|MADD_uc001net.1_Silent_p.T878T|MADD_uc009yln.1_Silent_p.T835T|MADD_uc001neu.1_Silent_p.T835T|MADD_uc001nex.2_Silent_p.T878T|MADD_uc001nez.2_Silent_p.T835T|MADD_uc001new.2_Silent_p.T878T	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	878					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		AGAAGGCCACGCCCTTCCCCA	0.562000												
CELF1	10658	broad.mit.edu	37	11	47493853	47493853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:47493853C>T	uc001nfl.2	-	12	1400	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Missense_Mutation_p.G461S|CELF1_uc001nfn.2_Missense_Mutation_p.G460S|CELF1_uc001nfo.1_Missense_Mutation_p.G490S|CELF1_uc010rhm.1_Missense_Mutation_p.G463S|CELF1_uc001nfp.2_Missense_Mutation_p.G492S|CELF1_uc001nfq.1_Missense_Mutation_p.G464S|CELF1_uc001nfr.1_Missense_Mutation_p.G464S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	464	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						ATCTGAAAGCCGTTCATGGAC	0.507000												
OR4A15	81328	broad.mit.edu	37	11	55136189	55136189	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:55136189T>A	uc010rif.1	+	1	830	c.830T>A	c.(829-831)TTA>TAA	p.L277*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	277	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTGGTCATTTTATTCTTTGTC	0.408000												
OR8K5	219453	broad.mit.edu	37	11	55926924	55926924	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:55926924G>C	uc010rja.1	-	1	870	c.870C>G	c.(868-870)TAC>TAG	p.Y290*		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TTCTTAAGCTGTAAATCAAAG	0.308000												
CCDC86	79080	broad.mit.edu	37	11	60609936	60609936	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:60609936C>T	uc001nqa.2	+	1	508	c.339C>T	c.(337-339)TCC>TCT	p.S113S	CCDC86_uc001nqb.2_Intron	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	113	Pro-rich.				interspecies interaction between organisms	nucleus					0						GTCCTGAATCCCCACGATGTC	0.612000												
C11orf9	745	broad.mit.edu	37	11	61533538	61533538	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:61533538A>G	uc001nsc.1	+	3	339	c.243A>G	c.(241-243)GGA>GGG	p.G81G	C11orf9_uc001nse.1_Silent_p.G72G	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	81	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTGGGGGTGGACCCTCCCCGG	0.711000												
FADS3	3995	broad.mit.edu	37	11	61646235	61646235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:61646235C>T	uc001nsm.2	-	4	760	c.607G>A	c.(607-609)GTG>ATG	p.V203M	FADS3_uc001nsn.2_Missense_Mutation_p.V79M	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	203	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						TGCCCCATCACGAACTTCTGG	0.637000												
EML3	256364	broad.mit.edu	37	11	62376111	62376111	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:62376111A>G	uc001ntu.1	-	9	1321	c.1013T>C	c.(1012-1014)GTG>GCG	p.V338A	EML3_uc001ntr.1_Missense_Mutation_p.V310A|EML3_uc001nts.1_Missense_Mutation_p.V310A|EML3_uc001ntt.1_Missense_Mutation_p.V222A|EML3_uc010rly.1_Missense_Mutation_p.V338A|EML3_uc009yny.1_Missense_Mutation_p.V121A	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	338	WD 1.					cytoplasm|microtubule	protein binding			ovary(1)	1						GATGTGAACCACAGGCTGCAG	0.567000												
FLRT1	23769	broad.mit.edu	37	11	63884684	63884684	+	Silent	SNP	C	C	T	rs151215662		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63884684C>T	uc001nyi.1	+	2	1286	c.945C>T	c.(943-945)GAC>GAT	p.D315D	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	287	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						GCCTGTTCGACGACCTGGGGA	0.642000												
FERMT3	83706	broad.mit.edu	37	11	63987936	63987936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63987936G>A	uc001nyl.2	+	12	1501	c.1352G>A	c.(1351-1353)GGC>GAC	p.G451D	FERMT3_uc001nym.2_Missense_Mutation_p.G447D	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	451	PH.|FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						TGGATGGCTGGCTGCCGCCTG	0.577000												
NRXN2	9379	broad.mit.edu	37	11	64390437	64390437	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64390437G>T	uc001oap.2	-	6	1334	c.823C>A	c.(823-825)CTG>ATG	p.L275M	NRXN2_uc001oar.2_Missense_Mutation_p.L1321M|NRXN2_uc001oas.2_Missense_Mutation_p.L1251M|NRXN2_uc001oao.2_Translation_Start_Site|NRXN2_uc001oaq.2_Missense_Mutation_p.L988M	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	275	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GCCAGCGCCAGCACCTTGAGC	0.687000												
NRXN2	9379	broad.mit.edu	37	11	64397897	64397897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64397897G>A	uc001oap.2	-	4	1107	c.596C>T	c.(595-597)CCG>CTG	p.P199L	NRXN2_uc001oar.2_Missense_Mutation_p.P1245L|NRXN2_uc001oas.2_Missense_Mutation_p.P1205L|NRXN2_uc001oaq.2_Missense_Mutation_p.P912L	NM_138734	NP_620063	P58401	NRX2B_HUMAN	neurexin 2 isoform beta precursor	199	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CTCGTTGACCGGCCAGCTGTC	0.488000												
EHD1	10938	broad.mit.edu	37	11	64622217	64622217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64622217C>T	uc001obu.1	-	5	1448	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	EHD1_uc001obt.1_Missense_Mutation_p.R81Q|EHD1_uc001obv.1_Missense_Mutation_p.R398Q|EHD1_uc010rnq.1_Missense_Mutation_p.R412Q	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	398					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						CTCCTCCTGCCGCACCATCAC	0.662000												
DPF2	5977	broad.mit.edu	37	11	65108459	65108459	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65108459C>T	uc001odm.2	+	3	228	c.216C>T	c.(214-216)TAC>TAT	p.Y72Y	DPF2_uc001odn.2_Silent_p.Y72Y|DPF2_uc010roe.1_Silent_p.Y72Y	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	72					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						GACAGCTGTACTCCTACCCTG	0.507000												
LTBP3	4054	broad.mit.edu	37	11	65308389	65308389	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65308389T>C	uc001oej.2	-	21	3199	c.2930A>G	c.(2929-2931)TAC>TGC	p.Y977C	LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Missense_Mutation_p.Y407C|LTBP3_uc010roi.1_Missense_Mutation_p.Y860C|LTBP3_uc001oei.2_Missense_Mutation_p.Y977C|LTBP3_uc010roj.1_Missense_Mutation_p.Y678C|LTBP3_uc010rok.1_Missense_Mutation_p.Y888C	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	977						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GTCCTGGGTGTAGCCCTTTCC	0.701000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EHBP1L1	254102	broad.mit.edu	37	11	65350555	65350555	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65350555A>G	uc001oeo.3	+	9	2677	c.2412A>G	c.(2410-2412)TCA>TCG	p.S804S	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	804	Glu-rich.									central_nervous_system(1)	1						TTGGGGGTTCAGAGGTTCCAG	0.527000												
FOSL1	8061	broad.mit.edu	37	11	65660374	65660374	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65660374T>C	uc001ogg.1	-	4	986	c.799A>G	c.(799-801)ACC>GCC	p.T267A	FOSL1_uc010ros.1_Missense_Mutation_p.T165A	NM_005438	NP_005429	P15407	FOSL1_HUMAN	FOS-like antigen 1	267					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				READ - Rectum adenocarcinoma(159;0.168)		GCGAGGAGGGTTGGAGAGCCA	0.632000												
ACTN3	89	broad.mit.edu	37	11	66329782	66329782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:66329782G>A	uc001oio.1	+	20	2395	c.2377G>A	c.(2377-2379)GGC>AGC	p.G793S	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	793	EF-hand 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						CATCTCCATGGGCTATGACCT	0.562000												
CARNS1	57571	broad.mit.edu	37	11	67191150	67191150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67191150C>T	uc009yrp.2	+	9	2014	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.A660V	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	521	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CCCTGGCCTGCGCCCTCCCTC	0.657000												
ALDH3B1	221	broad.mit.edu	37	11	67789245	67789245	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67789245T>C	uc010rpy.1	+	8	970	c.854T>C	c.(853-855)ATC>ACC	p.I285T	ALDH3B1_uc001omz.2_Missense_Mutation_p.I285T|ALDH3B1_uc001ona.2_Missense_Mutation_p.I248T|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	285					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CTGGGCCGCATCATCAACCAG	0.632000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MTL5	9633	broad.mit.edu	37	11	68517988	68517988	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:68517988G>A	uc001ooc.2	-	2	281	c.141C>T	c.(139-141)CAC>CAT	p.H47H	MTL5_uc001ood.1_Silent_p.H47H|MTL5_uc009ysi.1_Silent_p.H47H|MTL5_uc001ooe.2_Silent_p.H47H	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	47					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTTGAAGACGTGGAACTCGT	0.647000												
SHANK2	22941	broad.mit.edu	37	11	70338495	70338495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:70338495G>A	uc001oqc.2	-	18	2462	c.2384C>T	c.(2383-2385)GCG>GTG	p.A795V	SHANK2_uc010rqn.1_Missense_Mutation_p.A207V|SHANK2_uc001opz.2_Missense_Mutation_p.A200V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.A197V|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.A8V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	416					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGATGGTCGCCACCCTCGG	0.647000												
DHCR7	1717	broad.mit.edu	37	11	71146749	71146749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71146749C>T	uc001oqk.2	-	9	1350	c.1100G>A	c.(1099-1101)CGC>CAC	p.R367H	DHCR7_uc001oql.2_Missense_Mutation_p.R367H	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	GATGAGGCAGCGCCCATCCGT	0.662000									Smith-Lemli-Opitz_syndrome			
NUMA1	4926	broad.mit.edu	37	11	71726711	71726711	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71726711T>G	uc001orl.1	-	15	2010	c.1838A>C	c.(1837-1839)AAG>ACG	p.K613T	NUMA1_uc009ysw.1_Missense_Mutation_p.K176T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.K613T|NUMA1_uc001orn.2_Missense_Mutation_p.K176T|NUMA1_uc009ysx.1_Missense_Mutation_p.K613T|NUMA1_uc001oro.1_Missense_Mutation_p.K613T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	613	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						CTTGGCAGCCTTCTCCTTCTC	0.617000			T	RARA	APL							
PDE2A	5138	broad.mit.edu	37	11	72295937	72295937	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72295937G>A	uc010rrc.1	-	17	1581	c.1338C>T	c.(1336-1338)GAC>GAT	p.D446D	PDE2A_uc001oso.2_Silent_p.D425D|PDE2A_uc010rra.1_Silent_p.D439D|PDE2A_uc001osn.2_Silent_p.D190D|PDE2A_uc010rrb.1_Silent_p.D437D|PDE2A_uc010rrd.1_Silent_p.D331D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	446	GAF 2.	cGMP (By similarity).			platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACGCCCCCGTCGAACACCT	0.652000												
PDE2A	5138	broad.mit.edu	37	11	72385209	72385209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72385209G>A	uc010rrc.1	-	1	286	c.43C>T	c.(43-45)CAG>TAG	p.Q15*	PDE2A_uc010rrd.1_Nonsense_Mutation_p.Q15*|PDE2A_uc001osq.2_RNA	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	15					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GCCGGGTACTGCTGGCTCCTG	0.677000												
ARHGEF17	9828	broad.mit.edu	37	11	73020660	73020660	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73020660G>T	uc001otu.2	+	1	998	c.977G>T	c.(976-978)AGC>ATC	p.S326I		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	326					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity				0						GTTTCTGGGAGCCCTGAGCCC	0.607000												
ARHGEF17	9828	broad.mit.edu	37	11	73021304	73021304	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73021304C>A	uc001otu.2	+	1	1642	c.1621C>A	c.(1621-1623)CTG>ATG	p.L541M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	541					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity				0						GACAGCCACTCTGCGGAGAGC	0.637000												
CAPN5	726	broad.mit.edu	37	11	76831837	76831837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:76831837G>A	uc001oxx.2	+	10	1554	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	CAPN5_uc009yup.2_Missense_Mutation_p.V497I|CAPN5_uc009yuq.2_Missense_Mutation_p.V493I|CAPN5_uc001oxy.2_Missense_Mutation_p.V497I|CAPN5_uc001oya.2_Missense_Mutation_p.V19I	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	457	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CTCACGCAGCGTCTTCCTGCG	0.637000												
FZD4	8322	broad.mit.edu	37	11	86662525	86662525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:86662525T>C	uc001pce.2	-	2	1579	c.1273A>G	c.(1273-1275)ACA>GCA	p.T425A	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	425	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGTCTTTGTCCCATCCTTT	0.423000												
TMEM135	65084	broad.mit.edu	37	11	87029231	87029231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:87029231C>T	uc001pch.2	+	13	1153	c.1130C>T	c.(1129-1131)GCA>GTA	p.A377V	TMEM135_uc010rtt.1_Missense_Mutation_p.A238V|TMEM135_uc001pci.2_Missense_Mutation_p.A355V	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	377						integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTCCTCATGCAGATACTATC	0.353000												
FAT3	120114	broad.mit.edu	37	11	92531574	92531574	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92531574C>A	uc001pdj.3	+	9	5412	c.5395C>A	c.(5395-5397)CGA>AGA	p.R1799R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1799	Cadherin 16.|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)				ACTGGTGATTCGAGCCACAGA	0.483000										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92577235	92577235	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92577235G>T	uc001pdj.3	+	18	10719	c.10702G>T	c.(10702-10704)GGG>TGG	p.G3568W	FAT3_uc001pdi.3_Missense_Mutation_p.G8W	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3568	Cadherin 33.|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)				CTTTCCTGGTGGGGTCATTGG	0.468000										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92623907	92623907	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:92623907G>T	uc001pdj.3	+	25	13319	c.13302G>T	c.(13300-13302)CTG>CTT	p.L4434L	FAT3_uc001pdi.3_Silent_p.L906L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4466	Pro-rich.|Cytoplasmic (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)				ATGAGGCCCTGCCACCCTCCC	0.592000										TCGA Ovarian(4;0.039)		
BIRC3	330	broad.mit.edu	37	11	102195543	102195543	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102195543C>T	uc001pgx.2	+	3	525	c.303C>T	c.(301-303)TCC>TCT	p.S101S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	101					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTCTAAATTCCGTTAACAACT	0.418000			T	MALT1	MALT							
MMP12	4321	broad.mit.edu	37	11	102736573	102736573	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102736573A>T	uc001phk.2	-	9	1184	c.1139T>A	c.(1138-1140)ATT>AAT	p.I380N		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	380	Hemopexin-like 3.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCAC	0.363000												
DDI1	414301	broad.mit.edu	37	11	103908557	103908557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:103908557G>A	uc001phr.2	+	1	1250	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	336					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)		GATATGCTCCGGAGACATCAA	0.448000												
CASP4	837	broad.mit.edu	37	11	104820375	104820375	+	Missense_Mutation	SNP	G	G	T	rs138280041		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:104820375G>T	uc001pid.1	-	5	749	c.676C>A	c.(676-678)CCA>ACA	p.P226T	CASP4_uc001pib.1_Missense_Mutation_p.P170T|CASP4_uc009yxg.1_Missense_Mutation_p.P135T|CASP4_uc010rux.1_Missense_Mutation_p.P226T	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	226					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)		AGCACATCTGGTTTTTTCTCA	0.488000												
ALG9	79796	broad.mit.edu	37	11	111657215	111657215	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:111657215A>T	uc001pmb.2	-	16	1841	c.1742T>A	c.(1741-1743)GTC>GAC	p.V581D	ALG9_uc001ply.2_Missense_Mutation_p.V410D|ALG9_uc001plz.2_Missense_Mutation_p.V417D|ALG9_uc010rwm.1_Missense_Mutation_p.V588D|ALG9_uc010rwn.1_3'UTR|ALG9_uc010rwo.1_Missense_Mutation_p.V409D	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN	asparagine-linked glycosylation 9 protein	581	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		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)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CAGGAAGGGGACATAGAATGC	0.393000												
HTR3A	3359	broad.mit.edu	37	11	113860304	113860304	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:113860304T>C	uc010rxb.1	+	8	1603	c.1370T>C	c.(1369-1371)CTG>CCG	p.L457P	HTR3A_uc010rxa.1_Missense_Mutation_p.L425P|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.L404P	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	419	HA-stretch.|Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGTGGGCTGCTGCAGGAGCTG	0.657000												
ZNF259	8882	broad.mit.edu	37	11	116658284	116658284	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:116658284A>C	uc001ppp.2	-	2	280	c.247T>G	c.(247-249)TGT>GGT	p.C83G	ZNF259_uc009yzd.2_Missense_Mutation_p.C83G|ZNF259_uc001ppq.2_Intron	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	83	C4-type 1.				cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTCCAGCCACAGTGCTCGCAG	0.547000												
TMPRSS13	84000	broad.mit.edu	37	11	117789464	117789464	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:117789464G>T	uc001prs.1	-	2	204	c.111C>A	c.(109-111)GCC>GCA	p.A37A	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.A37A	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	37	1-4.|4 X 5 AA repeats of T-P-P-G-R.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GAGATGCCTGGGCTGGAGATG	0.637000												
TRIM29	23650	broad.mit.edu	37	11	119993751	119993751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119993751C>T	uc001pwz.2	-	5	1470	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H	TRIM29_uc001pwx.2_5'Flank|TRIM29_uc001pwy.2_5'UTR|TRIM29_uc010rzi.1_Missense_Mutation_p.R188H|TRIM29_uc010rzj.1_Missense_Mutation_p.R182H|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	449					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTTCACATAGCGATGGTCACC	0.572000												
TRIM29	23650	broad.mit.edu	37	11	119996467	119996467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119996467C>T	uc001pwz.2	-	4	1389	c.1265G>A	c.(1264-1266)CGC>CAC	p.R422H	TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.R161H|TRIM29_uc010rzj.1_Missense_Mutation_p.R155H|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	422					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCAACGTGGCGCATGCATAC	0.602000												
TRIM29	23650	broad.mit.edu	37	11	120008538	120008538	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:120008538C>T	uc001pwz.2	-	1	326	c.202G>A	c.(202-204)GCC>ACC	p.A68T	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	68					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCGAACAGGGCGCTCCTACCT	0.632000												
TRIM29	23650	broad.mit.edu	37	11	120008669	120008669	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:120008669C>T	uc001pwz.2	-	1	195	c.71G>A	c.(70-72)GGC>GAC	p.G24D	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	24					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCACTGGGGCCCGACGGGCT	0.672000												
TECTA	7007	broad.mit.edu	37	11	121038848	121038848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:121038848C>T	uc010rzo.1	+	18	5672	c.5672C>T	c.(5671-5673)ACG>ATG	p.T1891M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1891	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGGGACCGCACGATCAATGTG	0.473000												
SORL1	6653	broad.mit.edu	37	11	121495927	121495927	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:121495927T>C	uc001pxx.2	+	46	6385	c.6305T>C	c.(6304-6306)CTT>CCT	p.L2102P	SORL1_uc010rzp.1_Missense_Mutation_p.L948P|SORL1_uc010rzq.1_Missense_Mutation_p.L717P	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2102	Extracellular (Potential).|Fibronectin type-III 6.				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)		GCAAGATGCCTTTTTGGCAAC	0.468000												
BSX	390259	broad.mit.edu	37	11	122848477	122848477	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:122848477G>A	uc010rzs.1	-	3	582	c.582C>T	c.(580-582)GCC>GCT	p.A194A		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	194											0		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;0.0361)		CGGCGGTGGCGGCCTCTGAAC	0.667000												
GRAMD1B	57476	broad.mit.edu	37	11	123484322	123484322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:123484322C>T	uc001pyx.2	+	15	2083	c.1754C>T	c.(1753-1755)ACG>ATG	p.T585M	GRAMD1B_uc001pyw.2_Missense_Mutation_p.T592M|GRAMD1B_uc010rzw.1_Missense_Mutation_p.T545M|GRAMD1B_uc010rzx.1_Missense_Mutation_p.T545M|GRAMD1B_uc001pyy.2_Missense_Mutation_p.T276M	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	585						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCGGTCACCACGCCCACAGAT	0.607000												
OR8B12	219858	broad.mit.edu	37	11	124413368	124413368	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:124413368G>A	uc010sam.1	-	1	183	c.183C>T	c.(181-183)TTC>TTT	p.F61F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGTTAAAAAGGAAGAAGTACA	0.453000												
PUS3	83480	broad.mit.edu	37	11	125763900	125763900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:125763900C>T	uc001qcy.2	-	4	1324	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409						nucleus	RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CTTATATGTGCGCATCTTCAC	0.473000												
KCNJ5	3762	broad.mit.edu	37	11	128786370	128786370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:128786370C>T	uc001qet.2	+	3	1318	c.1004C>T	c.(1003-1005)CCA>CTA	p.P335L	KCNJ5_uc009zck.2_Missense_Mutation_p.P335L|KCNJ5_uc001qew.2_Missense_Mutation_p.P335L	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	335	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CGATTCACACCAGTCCTCACC	0.537000												
OPCML	4978	broad.mit.edu	37	11	132306587	132306587	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:132306587T>C	uc001qgs.2	-	5	801	c.751A>G	c.(751-753)ATG>GTG	p.M251V	OPCML_uc001qgu.2_Missense_Mutation_p.M244V|OPCML_uc010sck.1_Missense_Mutation_p.M251V|OPCML_uc001qgt.2_Missense_Mutation_p.M250V|OPCML_uc010scl.1_Missense_Mutation_p.M210V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	251	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AATTCAGCCATGGGGACTGCA	0.483000												
JAM3	83700	broad.mit.edu	37	11	134019044	134019044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:134019044G>A	uc001qhb.1	+	9	1060	c.1036G>A	c.(1036-1038)GAC>AAC	p.D346N	JAM3_uc009zcz.1_Missense_Mutation_p.D295N	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	301	Cytoplasmic (Potential).				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TTTGCAGGGCGACTTCAGACA	0.522000												
GLB1L3	112937	broad.mit.edu	37	11	134179653	134179653	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:134179653C>A	uc009zdf.2	+	11	1455	c.1095C>A	c.(1093-1095)AGC>AGA	p.S365R	GLB1L3_uc010scu.1_Missense_Mutation_p.S66R|GLB1L3_uc001qho.3_RNA	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	365					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTGTCACCAGCTATGGCAAGT	0.527000												
WNK1	65125	broad.mit.edu	37	12	1009685	1009685	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:1009685G>A	uc001qio.3	+	26	6999	c.6492G>A	c.(6490-6492)CAG>CAA	p.Q2164Q	WNK1_uc001qip.3_Silent_p.Q1916Q|WNK1_uc001qir.3_Silent_p.Q1337Q|WNK1_uc009zdm.1_RNA|WNK1_uc009zdn.1_RNA|uc009zdo.1_5'Flank	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2164					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCACCCCCAGCAGACCCTCC	0.542000												
FGF23	8074	broad.mit.edu	37	12	4479894	4479894	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4479894T>C	uc001qmq.1	-	3	517	c.371A>G	c.(370-372)TAC>TGC	p.Y124C		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GTAGACGTCGTACCCGTTTTC	0.597000												
DYRK4	8798	broad.mit.edu	37	12	4705421	4705421	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4705421T>C	uc001qmx.2	+	5	549	c.389T>C	c.(388-390)GTG>GCG	p.V130A	DYRK4_uc009zeh.1_Missense_Mutation_p.V245A|DYRK4_uc001qmy.1_Missense_Mutation_p.V130A	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	130	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			AATGAGCTGGTGGCCCTGAAA	0.537000												
ANO2	57101	broad.mit.edu	37	12	6031894	6031894	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:6031894A>G	uc001qnm.2	-	2	159	c.87T>C	c.(85-87)CAT>CAC	p.H29H		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	33	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						ACTGCTGTCCATGTTTGGGGC	0.662000												
VWF	7450	broad.mit.edu	37	12	6135070	6135070	+	Splice_Site	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:6135070A>G	uc001qnn.1	-	23	3358	c.3108_splice	c.e23+1	p.K1036_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein						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)	ACCCAGACGTACTTTTCTGGT	0.557000												
CD163L1	283316	broad.mit.edu	37	12	7522059	7522059	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:7522059A>G	uc001qsy.2	-	15	3959	c.3933T>C	c.(3931-3933)GAT>GAC	p.D1311D	CD163L1_uc010sge.1_Silent_p.D1321D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1311	SRCR 12.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ACCGCATGTCATCCAACCAGA	0.577000												
PHC1	1911	broad.mit.edu	37	12	9083041	9083041	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:9083041T>C	uc001qvd.2	+	7	779	c.623T>C	c.(622-624)TTG>TCG	p.L208S	PHC1_uc001qvc.1_Missense_Mutation_p.L163S|PHC1_uc010sgn.1_Missense_Mutation_p.L208S|PHC1_uc001qve.2_Missense_Mutation_p.L208S	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	208					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						GTTCAGAACTTGGCAGTAAGG	0.493000												
TAS2R19	259294	broad.mit.edu	37	12	11174710	11174710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:11174710C>T	uc010shj.1	-	1	461	c.461G>A	c.(460-462)TGG>TAG	p.W154*	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	154	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						TTCTTTTGTCCACACTCTCTC	0.393000												
GRIN2B	2904	broad.mit.edu	37	12	13715915	13715915	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:13715915C>T	uc001rbt.2	-	13	4436	c.4257G>A	c.(4255-4257)CCG>CCA	p.P1419P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1419	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)	CCCGGAAGTCCGGCCTGGCTT	0.612000												
GRIN2B	2904	broad.mit.edu	37	12	13716141	13716141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:13716141G>A	uc001rbt.2	-	13	4210	c.4031C>T	c.(4030-4032)GCT>GTT	p.A1344V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1344	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)	GCTCTCGCCAGCTGACATCTC	0.607000												
ARHGDIB	397	broad.mit.edu	37	12	15095522	15095522	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:15095522G>A	uc001rcq.1	-	6	644	c.540C>T	c.(538-540)GAC>GAT	p.D180D	ARHGDIB_uc001rcp.1_RNA	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						GCTTGTCATCGTCGGTGAAGA	0.567000												
SLCO1C1	53919	broad.mit.edu	37	12	20903684	20903684	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:20903684G>T	uc001rej.3	+	15	2229	c.1874G>T	c.(1873-1875)GGA>GTA	p.G625V	SLCO1C1_uc010sii.1_Missense_Mutation_p.G625V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G576V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G459V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G625V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G507V	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	625	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					AAAAGATGTGGAAGTAGAGGA	0.383000												
GYS2	2998	broad.mit.edu	37	12	21721877	21721877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:21721877C>T	uc001rfb.2	-	5	1000	c.745G>A	c.(745-747)GTT>ATT	p.V249I		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	249					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GCGCAATGAACGGAAGCTCGC	0.423000												
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:25398281C>T	uc001rgp.1	-	2	219	c.38G>A	c.(37-39)GGC>GAC	p.G13D	KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	13	GTP.		G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; 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.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1)		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)			CTTGCCTACGCCACCAGCTCC	0.338000	G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_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)		
OVCH1	341350	broad.mit.edu	37	12	29640731	29640731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:29640731C>T	uc001rix.1	-	7	787	c.787G>A	c.(787-789)GCT>ACT	p.A263T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	263	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAACCTCCAGCACAACCAGCT	0.318000												
OVCH1	341350	broad.mit.edu	37	12	29648250	29648250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:29648250G>A	uc001rix.1	-	4	422	c.422C>T	c.(421-423)GCA>GTA	p.A141V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	141	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATACAGCAGTGCAATATCAGG	0.353000												
CAPRIN2	65981	broad.mit.edu	37	12	30888129	30888129	+	Silent	SNP	C	C	T	rs145888176		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:30888129C>T	uc001rji.1	-	4	1333	c.582G>A	c.(580-582)GCG>GCA	p.A194A	CAPRIN2_uc001rjf.1_5'UTR|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.A194A|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.A194A|CAPRIN2_uc001rjl.3_Silent_p.A194A	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	194	Potential.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTCTTTTGCGCTTTTAGTA	0.378000												
LRRK2	120892	broad.mit.edu	37	12	40702310	40702310	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40702310G>A	uc001rmg.3	+	29	4122	c.4001G>A	c.(4000-4002)CGA>CAA	p.R1334Q	LRRK2_uc009zjw.2_Missense_Mutation_p.R172Q|LRRK2_uc001rmi.2_Missense_Mutation_p.R167Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1334	Roc.				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)				CCTTATAACCGAATGAAACTT	0.323000												
ADAMTS20	80070	broad.mit.edu	37	12	43822569	43822569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:43822569G>A	uc010skx.1	-	25	3523	c.3523C>T	c.(3523-3525)CGC>TGC	p.R1175C	ADAMTS20_uc001rno.1_Missense_Mutation_p.R293C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R329C	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1175	TSP type-1 7.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTACATAGCGGGCTTGAGTA	0.433000												
ADAMTS20	80070	broad.mit.edu	37	12	43925845	43925845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:43925845C>T	uc010skx.1	-	3	607	c.607G>A	c.(607-609)GTG>ATG	p.V203M		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	203						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACCTGACACACTGCAATAC	0.308000												
TMEM117	84216	broad.mit.edu	37	12	44781841	44781841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:44781841G>A	uc001rod.2	+	8	997	c.931G>A	c.(931-933)GTC>ATC	p.V311I	TMEM117_uc001roe.2_Missense_Mutation_p.V207I|TMEM117_uc009zkc.2_Silent_p.S267S	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	311	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATCTTCCTCGTCTTGATTTT	0.328000												
NELL2	4753	broad.mit.edu	37	12	45173705	45173705	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:45173705C>A	uc001rog.2	-	4	1031	c.436G>T	c.(436-438)GCT>TCT	p.A146S	NELL2_uc001rof.3_Missense_Mutation_p.A145S|NELL2_uc001roh.2_Missense_Mutation_p.A146S|NELL2_uc009zkd.2_Missense_Mutation_p.A145S|NELL2_uc010skz.1_Missense_Mutation_p.A196S|NELL2_uc010sla.1_Missense_Mutation_p.A169S|NELL2_uc001roi.1_Missense_Mutation_p.A146S|NELL2_uc010slb.1_Missense_Mutation_p.A145S|NELL2_uc001roj.2_Missense_Mutation_p.A146S	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	146	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTGTCATCAGCCAAAATGTAA	0.458000												
ARID2	196528	broad.mit.edu	37	12	46123895	46123895	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:46123895T>C	uc001ros.1	+	2	161	c.161T>C	c.(160-162)GTC>GCC	p.V54A	ARID2_uc001ror.2_Missense_Mutation_p.V54A|LOC400027_uc001roq.2_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	54	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACACCAGAGTCACTACTTTA	0.527000												
HDAC7	51564	broad.mit.edu	37	12	48179218	48179218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48179218G>A	uc010slo.1	-	24	2938	c.2743C>T	c.(2743-2745)CCC>TCC	p.P915S	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.P349S|HDAC7_uc001rqj.3_Missense_Mutation_p.P878S|HDAC7_uc001rqk.3_Missense_Mutation_p.P898S	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	876					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)		TTGAGGTTGGGTTTCTGTTTC	0.557000												
OR8S1	341568	broad.mit.edu	37	12	48921732	48921732	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48921732A>G	uc010slu.1	+	2	926	c.926A>G	c.(925-927)CAG>CGG	p.Q309R		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CATTTGCCTCAGCTGCACAAA	0.532000												
ACCN2	41	broad.mit.edu	37	12	50452564	50452564	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:50452564C>T	uc001rvw.2	+	2	244	c.15C>T	c.(13-15)GCC>GCT	p.A5A	ACCN2_uc001rvv.2_Silent_p.A5A|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Silent_p.A5A	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	5	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	AACTGAAGGCCGAGGAGGAGG	0.617000												
LARP4	113251	broad.mit.edu	37	12	50835413	50835413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:50835413G>A	uc001rwp.1	+	8	935	c.791G>A	c.(790-792)GGC>GAC	p.G264D	LARP4_uc001rwo.1_Missense_Mutation_p.G270D|LARP4_uc001rwq.1_Missense_Mutation_p.G264D|LARP4_uc001rwr.1_Missense_Mutation_p.G264D|LARP4_uc001rws.1_Missense_Mutation_p.G263D|LARP4_uc009zlr.1_Missense_Mutation_p.G83D|LARP4_uc001rwt.1_5'UTR|LARP4_uc001rwm.2_Missense_Mutation_p.G264D|LARP4_uc001rwn.2_Missense_Mutation_p.G194D	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	264	RRM.						nucleotide binding|RNA binding			ovary(1)	1						ACATTTCAGGGCAAGCCAATT	0.289000												
TMPRSS12	283471	broad.mit.edu	37	12	51237698	51237698	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:51237698C>T	uc001rwx.3	+	2	308	c.261C>T	c.(259-261)GGC>GGT	p.G87G	TMPRSS12_uc001rwy.2_Silent_p.G87G	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	87	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						CACAAGCTGGCGCATGGCCGT	0.488000												
SLC11A2	4891	broad.mit.edu	37	12	51389421	51389421	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:51389421G>A	uc001rxe.3	-	10	1078	c.981C>T	c.(979-981)AAC>AAT	p.N327N	SLC11A2_uc001rxd.3_Silent_p.N176N|SLC11A2_uc001rxc.3_Silent_p.N327N|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_5'Flank|SLC11A2_uc010smx.1_Silent_p.N323N|SLC11A2_uc001rxh.1_Silent_p.N327N|SLC11A2_uc001rxj.1_Silent_p.N327N|SLC11A2_uc001rxi.2_Silent_p.N327N|SLC11A2_uc001rxk.1_Silent_p.N356N|SLC11A2_uc010smy.1_Silent_p.N290N	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	327	Extracellular (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						CCACCTGCTCGTTGGTTTTCC	0.428000												
SCN8A	6334	broad.mit.edu	37	12	52139762	52139762	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:52139762G>A	uc001ryw.2	+	13	2252	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	SCN8A_uc010snl.1_Missense_Mutation_p.G557R|SCN8A_uc001ryx.1_Missense_Mutation_p.G568R|SCN8A_uc001ryz.1_Missense_Mutation_p.G568R|SCN8A_uc001ryy.2_Missense_Mutation_p.G557R	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	692					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCCTCCTACGGGCGGAAGGA	0.383000												
KRT2	3849	broad.mit.edu	37	12	53040721	53040721	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:53040721G>A	uc001sat.2	-	7	1305	c.1272C>T	c.(1270-1272)ATC>ATT	p.I424I		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	424	Coil 2.|Rod.				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)		CGGCATCTGCGATGGCATCTT	0.572000												
OR10P1	121130	broad.mit.edu	37	12	56031165	56031165	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56031165A>G	uc010spq.1	+	1	490	c.490A>G	c.(490-492)ATC>GTC	p.I164V		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TGCCTCCCTCATCTTCTCTCT	0.597000												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		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	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000												
ESYT1	23344	broad.mit.edu	37	12	56536104	56536104	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56536104A>G	uc001sjq.2	+	25	2678	c.2628A>G	c.(2626-2628)TTA>TTG	p.L876L	ESYT1_uc001sjr.2_Silent_p.L886L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	876	C2 4.					integral to membrane				ovary(4)|skin(1)	5						TGGGCTCATTATCCCTGCCCC	0.572000												
ANKRD52	283373	broad.mit.edu	37	12	56648052	56648052	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56648052G>T	uc001skm.3	-	8	795	c.705C>A	c.(703-705)CCC>CCA	p.P235P	ANKRD52_uc001skn.1_RNA	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	235							protein binding			ovary(2)	2						CAAAAGCATTGGGTTCATCGA	0.502000												
ATP5B	506	broad.mit.edu	37	12	57033006	57033006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57033006C>T	uc001slr.2	-	9	1478	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	458					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CTGTATTTTCCGTGCACGGGA	0.478000												
LRP1	4035	broad.mit.edu	37	12	57535223	57535223	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57535223T>C	uc001snd.2	+	3	723	c.257T>C	c.(256-258)GTT>GCT	p.V86A	LRP1_uc010sre.1_Missense_Mutation_p.V86A|LRP1_uc001snb.2_Missense_Mutation_p.V86A|LRP1_uc001snc.1_Missense_Mutation_p.V86A	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	86	Extracellular (Potential).|LDL-receptor class A 2.				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)	GAGCTGTGTGTTCCCATGTCC	0.592000												
LRP1	4035	broad.mit.edu	37	12	57554890	57554890	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57554890G>T	uc001snd.2	+	13	2660	c.2194G>T	c.(2194-2196)GAC>TAC	p.D732Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	732	LDL-receptor class B 7.|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)	CAATGGCACAGACCGGAAGGT	0.537000												
LRP1	4035	broad.mit.edu	37	12	57598433	57598433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57598433C>T	uc001snd.2	+	72	11561	c.11095C>T	c.(11095-11097)CGG>TGG	p.R3699W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3699	Extracellular (Potential).|LDL-receptor class A 30.				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)	CCCTCCCAACCGGCCCTTCCG	0.627000												
GLI1	2735	broad.mit.edu	37	12	57859040	57859040	+	Splice_Site	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57859040T>C	uc001snx.2	+	5	612	c.534_splice	c.e5+2	p.Q178_splice	GLI1_uc009zpq.2_Splice_Site_p.Q50_splice	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1						epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			ACTTGCCAGGTGAGAGTCCCC	0.562000												
SRGAP1	57522	broad.mit.edu	37	12	64519881	64519881	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64519881C>T	uc010ssp.1	+	19	2405	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G	SRGAP1_uc001srv.2_Silent_p.G720G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	783	SH3.				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)		GGTGGGAAGGCAGGCACAACG	0.532000												
TBK1	29110	broad.mit.edu	37	12	64895142	64895142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64895142G>A	uc001ssc.1	+	21	2233	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	724					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		GGTGGCCTTCGCAACGTTGAC	0.368000												
IRAK3	11213	broad.mit.edu	37	12	66620619	66620619	+	Splice_Site	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:66620619T>C	uc001sth.2	+	7	870	c.768_splice	c.e7+2	p.V256_splice	IRAK3_uc010ssy.1_Splice_Site_p.V195_splice	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3						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)		CAGTGTGTAGTAAGTTCTATC	0.423000												
CNOT2	4848	broad.mit.edu	37	12	70732481	70732481	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:70732481G>T	uc001svv.2	+	11	1636	c.1057G>T	c.(1057-1059)GAC>TAC	p.D353Y	CNOT2_uc009zro.2_Missense_Mutation_p.D353Y|CNOT2_uc009zrp.2_Missense_Mutation_p.D333Y|CNOT2_uc009zrq.2_Missense_Mutation_p.D353Y|CNOT2_uc001svw.1_Missense_Mutation_p.D93Y	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	353					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GATGGTGACGGACCAATTTGG	0.388000												
SYT1	6857	broad.mit.edu	37	12	79689885	79689885	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:79689885G>A	uc001sys.2	+	8	1182	c.511G>A	c.(511-513)GCC>ACC	p.A171T	SYT1_uc001syt.2_Missense_Mutation_p.A171T|SYT1_uc001syu.2_Missense_Mutation_p.A168T|SYT1_uc001syv.2_Missense_Mutation_p.A171T	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	171	Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						CGAACTGCCCGCCTTGGACAT	0.423000												
C12orf26	84190	broad.mit.edu	37	12	82872739	82872739	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:82872739A>G	uc001szq.2	+	12	1769	c.1748A>G	c.(1747-1749)AAG>AGG	p.K583R		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	583											0						GCTCTTGTGAAGTTGTTTGAT	0.343000												
EEA1	8411	broad.mit.edu	37	12	93251100	93251100	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:93251100G>A	uc001tck.2	-	5	582	c.317C>T	c.(316-318)TCG>TTG	p.S106L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	106	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TAATTCTTCCGAGTACCATTT	0.229000												
TMPO	7112	broad.mit.edu	37	12	98909808	98909808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:98909808G>A	uc001tfj.2	+	1	400	c.163G>A	c.(163-165)GCC>ACC	p.A55T	LOC100128191_uc001tfg.2_RNA|TMPO_uc001tfi.1_Missense_Mutation_p.A55T|TMPO_uc001tfk.2_Missense_Mutation_p.A55T|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.A55T	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	55	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2						GCCGCTCCCCGCCGGCACCAA	0.627000												
SLC5A8	160728	broad.mit.edu	37	12	101588916	101588916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:101588916G>A	uc001thz.3	-	4	884	c.494C>T	c.(493-495)GCG>GTG	p.A165V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	165	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TGCCACTACCGCGCCCCACAG	0.398000												
MYBPC1	4604	broad.mit.edu	37	12	102041875	102041875	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:102041875G>A	uc001tii.2	+	12	1170	c.1068G>A	c.(1066-1068)GGG>GGA	p.G356G	MYBPC1_uc001tif.1_Silent_p.G369G|MYBPC1_uc001tig.2_Silent_p.G381G|MYBPC1_uc010svq.1_Silent_p.G343G|MYBPC1_uc001tih.2_Silent_p.G381G|MYBPC1_uc001tij.2_Silent_p.G356G|MYBPC1_uc010svr.1_Silent_p.G356G|MYBPC1_uc010svs.1_Silent_p.G356G|MYBPC1_uc010svt.1_Silent_p.G344G|MYBPC1_uc010svu.1_Silent_p.G337G|MYBPC1_uc001tik.2_Silent_p.G330G	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	356	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CTTATTGTGGGGAGAGAGTGG	0.353000												
GNPTAB	79158	broad.mit.edu	37	12	102164271	102164271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:102164271C>T	uc001tit.2	-	9	1205	c.1026G>A	c.(1024-1026)TGG>TGA	p.W342*	GNPTAB_uc001tiu.1_Nonsense_Mutation_p.W342*	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	342					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						TATTCCGAACCCATGGTGCAT	0.458000												
STAB2	55576	broad.mit.edu	37	12	104152955	104152955	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:104152955C>T	uc001tjw.2	+	65	7338	c.7152C>T	c.(7150-7152)AGC>AGT	p.S2384S	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2384	Extracellular (Potential).|FAS1 7.				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						CCAATGTCAGCATGTTTTTCT	0.512000												
GLT8D2	83468	broad.mit.edu	37	12	104388188	104388188	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:104388188A>T	uc001tkh.1	-	9	1098	c.692T>A	c.(691-693)ATT>AAT	p.I231N	GLT8D2_uc001tki.1_Missense_Mutation_p.I231N	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	231	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						GTTGGCAACAATCACACCAGG	0.483000												
SLC41A2	84102	broad.mit.edu	37	12	105321865	105321865	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:105321865C>T	uc001tla.2	-	1	608	c.441G>A	c.(439-441)GTG>GTA	p.V147V		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	147	Extracellular.					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ATTTTGGGGTCACTTCTACAA	0.408000												
NUAK1	9891	broad.mit.edu	37	12	106460837	106460837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:106460837C>T	uc001tlj.1	-	7	3109	c.1729G>A	c.(1729-1731)GTG>ATG	p.V577M		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	577							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CTGGACAGCACGCTGTCATCG	0.597000												
FICD	11153	broad.mit.edu	37	12	108912632	108912632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:108912632G>A	uc001tmx.1	+	3	903	c.757G>A	c.(757-759)GTG>ATG	p.V253M		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	253					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						CCGCTACGCCGTGCCCGGGAA	0.587000												
MYO1H	283446	broad.mit.edu	37	12	109826583	109826583	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:109826583C>T	uc010sxn.1	+	1	60	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TGCTATTGGACGCGTACACCA	0.532000												
MYL2	4633	broad.mit.edu	37	12	111352095	111352095	+	Splice_Site	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:111352095C>A	uc001try.3	-	4	241	c.170_splice	c.e4-1	p.G57_splice	MYL2_uc001trx.3_Splice_Site_p.G38_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2						cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TTCACTCGCCCTAGGGTAGGA	0.418000												
ACAD10	80724	broad.mit.edu	37	12	112184963	112184963	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112184963C>T	uc001tsq.2	+	15	2567	c.2367C>T	c.(2365-2367)CGC>CGT	p.R789R	ACAD10_uc001tsp.2_Silent_p.R789R|ACAD10_uc009zvx.2_Silent_p.R820R|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	789							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGAAAGCCCGCTCCTGTTTTG	0.642000												
ALDH2	217	broad.mit.edu	37	12	112221025	112221025	+	Missense_Mutation	SNP	C	C	T	rs140919090	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112221025C>T	uc001tst.2	+	3	724	c.283C>T	c.(283-285)CGC>TGC	p.R95C	ALDH2_uc010syi.1_Intron|ALDH2_uc009zvy.2_Missense_Mutation_p.R95C	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	95					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGCGCCGCATGGACGC	0.632000			T	HMGA2	leiomyoma							
TRAFD1	10906	broad.mit.edu	37	12	112590274	112590274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112590274G>A	uc001ttp.2	+	11	1749	c.1663G>A	c.(1663-1665)GCT>ACT	p.A555T	TRAFD1_uc001tto.2_Missense_Mutation_p.A555T	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	555					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						CACCCCTGCAGCTGCCAACTA	0.542000												
C12orf51	283450	broad.mit.edu	37	12	112622703	112622703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112622703C>T	uc009zwc.2	-	54	8819	c.8801G>A	c.(8800-8802)CGC>CAC	p.R2934H		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GGTGAGTGCGCGGTGGAACCA	0.677000												
C12orf51	283450	broad.mit.edu	37	12	112688019	112688019	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112688019C>T	uc009zwc.2	-	18	2631	c.2613G>A	c.(2611-2613)CTG>CTA	p.L871L	C12orf51_uc010syk.1_Silent_p.L693L|C12orf51_uc001tts.2_Silent_p.L684L|C12orf51_uc001ttt.3_Silent_p.L682L	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTCCTGGAGGCAGTCTGATCC	0.458000												
DDX54	79039	broad.mit.edu	37	12	113600758	113600758	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113600758C>A	uc001tup.2	-	17	2202	c.2174G>T	c.(2173-2175)AGG>ATG	p.R725M	DDX54_uc001tuq.3_Missense_Mutation_p.R725M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	725					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CTGCCGGCCCCTCGTCAGGTT	0.652000												
RBM19	9904	broad.mit.edu	37	12	114296674	114296674	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:114296674G>A	uc009zwi.2	-	22	2730	c.2586C>T	c.(2584-2586)CGC>CGT	p.R862R	RBM19_uc001tvn.3_Silent_p.R862R|RBM19_uc001tvm.2_Silent_p.R862R	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	862	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTTTGGCAGGCGGACCGTCT	0.547000												
MED13L	23389	broad.mit.edu	37	12	116422119	116422119	+	Missense_Mutation	SNP	C	C	T	rs140136426		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:116422119C>T	uc001tvw.2	-	20	4452	c.4397G>A	c.(4396-4398)CGC>CAC	p.R1466H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466					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)		TTTTCCCACGCGCATGATCCC	0.488000												
CIT	11113	broad.mit.edu	37	12	120189988	120189988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:120189988G>A	uc001txi.1	-	22	2698	c.2645C>T	c.(2644-2646)TCC>TTC	p.S882F	CIT_uc001txh.1_Missense_Mutation_p.S416F|CIT_uc001txj.1_Missense_Mutation_p.S924F	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	882	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCTGCAGGGAGAGCTGTAG	0.527000												
ANAPC5	51433	broad.mit.edu	37	12	121757618	121757618	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:121757618A>G	uc001uag.2	-	13	1641	c.1519T>C	c.(1519-1521)TGG>CGG	p.W507R	ANAPC5_uc010szu.1_Missense_Mutation_p.W173R|ANAPC5_uc001uae.2_Missense_Mutation_p.W71R|ANAPC5_uc010szv.1_Missense_Mutation_p.W109R|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.W395R|ANAPC5_uc001uai.1_Missense_Mutation_p.W109R	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	507					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CATAGCATCCATAACTAGTAA	0.318000												
KDM2B	84678	broad.mit.edu	37	12	121958808	121958808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:121958808C>T	uc001uat.2	-	9	1131	c.1027G>A	c.(1027-1029)GAG>AAG	p.E343K	KDM2B_uc001uas.2_Missense_Mutation_p.E312K|KDM2B_uc001uau.2_Missense_Mutation_p.E226K|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	343	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						TCCTCGATCTCGTAGATCCGC	0.607000												
MORN3	283385	broad.mit.edu	37	12	122107246	122107246	+	Silent	SNP	G	G	A	rs147677521	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122107246G>A	uc001uax.2	-	1	315	c.144C>T	c.(142-144)CAC>CAT	p.H48H	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	48	MORN 1.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCACTCACCGTGTTTCACGT	0.637000											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BCL7A	605	broad.mit.edu	37	12	122481866	122481866	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122481866G>A	uc001ubp.2	+	4	483	c.346G>A	c.(346-348)GCT>ACT	p.A116T	BCL7A_uc001ubo.2_Missense_Mutation_p.A116T	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	116					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CTCCAGCCCCGCTCCAGAGCC	0.612000			T	MYC	BNHL							
BCL7A	605	broad.mit.edu	37	12	122492808	122492808	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122492808C>T	uc001ubp.2	+	5	674	c.537C>T	c.(535-537)GCC>GCT	p.A179A	BCL7A_uc001ubo.2_Silent_p.A179A	NM_001024808	NP_001019979	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A isoform b	179					negative regulation of transcription, DNA-dependent					ovary(1)|lung(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CGGGTCTGGCCGCAGAGACGT	0.572000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL31	386653	broad.mit.edu	37	12	122658459	122658459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122658459G>A	uc001ubv.2	-	2	124	c.97C>T	c.(97-99)CGA>TGA	p.R33*	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	33						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCACTTGGTCGTAGTAAACGG	0.507000												
CLIP1	6249	broad.mit.edu	37	12	122848546	122848546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122848546C>T	uc001ucg.1	-	3	872	c.766G>A	c.(766-768)GCT>ACT	p.A256T	CLIP1_uc001uch.1_Missense_Mutation_p.A256T|CLIP1_uc001uci.1_Missense_Mutation_p.A256T|CLIP1_uc001ucj.1_5'UTR|CLIP1_uc010tae.1_Missense_Mutation_p.A256T	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	256	CAP-Gly 2.				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)		CCAGCAACAGCGCCATCATTC	0.522000												
GPR109B	8843	broad.mit.edu	37	12	123201180	123201180	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123201180C>T	uc001ucy.3	-	1	260	c.105G>A	c.(103-105)GGG>GGA	p.G35G	GPR81_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	G protein-coupled receptor 109B	35	Helical; Name=1; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TAAACTCCAGCCCCAACACCG	0.507000												
OGFOD2	79676	broad.mit.edu	37	12	123463113	123463113	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123463113C>T	uc001uea.1	+	5	549	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	OGFOD2_uc001uds.1_Silent_p.Y12Y|OGFOD2_uc001udt.1_Silent_p.Y12Y|OGFOD2_uc001udu.1_Silent_p.Y12Y|OGFOD2_uc001udv.1_Silent_p.Y12Y|OGFOD2_uc009zxs.1_Silent_p.Y12Y|OGFOD2_uc001udw.1_Silent_p.Y12Y|OGFOD2_uc001udx.1_Silent_p.Y12Y|OGFOD2_uc001udy.1_Silent_p.Y12Y|OGFOD2_uc001udz.1_Silent_p.Y116Y|OGFOD2_uc010tak.1_3'UTR|OGFOD2_uc001ueb.1_Silent_p.Y12Y|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase	176							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TGAACAACTACGGGGTGGGTG	0.637000												
C12orf65	91574	broad.mit.edu	37	12	123738251	123738251	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:123738251T>G	uc001uen.2	+	2	296	c.30T>G	c.(28-30)CCT>CCG	p.P10P	C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Silent_p.P10P	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	10						mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		TTCATTTTCCTACACCACTGA	0.532000												
DDX55	57696	broad.mit.edu	37	12	124102357	124102357	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124102357G>A	uc001ufi.2	+	11	1126	c.1102G>A	c.(1102-1104)GCT>ACT	p.A368T	DDX55_uc001ufh.2_Missense_Mutation_p.A221T|DDX55_uc001ufj.1_Missense_Mutation_p.A221T|DDX55_uc001ufk.2_Missense_Mutation_p.A221T|DDX55_uc001ufl.2_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	368	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CGGGGGCAGCGCTCTGGTGTT	0.413000												
NCOR2	9612	broad.mit.edu	37	12	124870328	124870328	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124870328T>C	uc010tba.1	-	17	2099	c.1982A>G	c.(1981-1983)AAC>AGC	p.N661S	NCOR2_uc010tay.1_Missense_Mutation_p.N661S|NCOR2_uc010taz.1_Missense_Mutation_p.N661S|NCOR2_uc010tbb.1_Missense_Mutation_p.N661S|NCOR2_uc010tbc.1_Missense_Mutation_p.N660S|NCOR2_uc001ugj.1_Missense_Mutation_p.N661S	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	661	SANT 2.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCATCGAGGTTCTGCCTCTT	0.592000												
BRI3BP	140707	broad.mit.edu	37	12	125509729	125509729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:125509729G>A	uc001uha.1	+	3	652	c.509G>A	c.(508-510)TGC>TAC	p.C170Y		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	170						integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCCATGTCCTGCGTGTACATC	0.612000												
TMEM132B	114795	broad.mit.edu	37	12	125834260	125834260	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:125834260T>C	uc001uhe.1	+	2	323	c.315T>C	c.(313-315)TCT>TCC	p.S105S		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	105	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)		TGTTGACATCTACAGCCTTTG	0.473000												
GPR133	283383	broad.mit.edu	37	12	131620613	131620613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:131620613C>T	uc001uit.3	+	22	2858	c.2299C>T	c.(2299-2301)CCC>TCC	p.P767S	GPR133_uc010tbm.1_Missense_Mutation_p.P799S|GPR133_uc009zyo.2_Missense_Mutation_p.P49S|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	767	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGTGCTGCTGCCCATCCTGGG	0.597000												
SFRS8	6433	broad.mit.edu	37	12	132211522	132211522	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132211522T>A	uc001uja.1	+	6	1010	c.870T>A	c.(868-870)GAT>GAA	p.D290E	SFRS8_uc010tbn.1_Missense_Mutation_p.D290E|SFRS8_uc001ujb.1_Missense_Mutation_p.D83E|SFRS8_uc001uiz.1_Missense_Mutation_p.D164E	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	290	Poly-Asp.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ATGATGATGATGAAGAAGATG	0.358000												
ULK1	8408	broad.mit.edu	37	12	132398927	132398927	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132398927C>T	uc001uje.2	+	16	1546	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	426					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)		GCAGCAGGTGCGGCGCCTCTG	0.627000												
PUS1	80324	broad.mit.edu	37	12	132416772	132416772	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132416772C>A	uc001ujf.2	+	3	835	c.356C>A	c.(355-357)GCC>GAC	p.A119D	PUS1_uc001ujg.2_Missense_Mutation_p.A91D|PUS1_uc001ujh.2_Missense_Mutation_p.A91D|PUS1_uc001uji.2_Missense_Mutation_p.A66D	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	119						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)		TTGGTGTCCGCCCTCGTCCGG	0.448000												
PUS1	80324	broad.mit.edu	37	12	132426072	132426072	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132426072C>T	uc001ujf.2	+	5	1259	c.780C>T	c.(778-780)TGC>TGT	p.C260C	PUS1_uc001ujg.2_Silent_p.C232C|PUS1_uc001ujh.2_Silent_p.C232C|PUS1_uc001uji.2_Silent_p.C207C	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	260						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)		CCAGTGCCTGCCGCTACATCC	0.592000												
EP400	57634	broad.mit.edu	37	12	132504671	132504671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132504671C>T	uc001ujn.2	+	21	4390	c.4355C>T	c.(4354-4356)ACG>ATG	p.T1452M	EP400_uc001ujl.2_Missense_Mutation_p.T1451M|EP400_uc001ujm.2_Missense_Mutation_p.T1452M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1488					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGCCCCGGACGGCAGCCCCC	0.652000												
NOC4L	79050	broad.mit.edu	37	12	132632496	132632496	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:132632496C>T	uc001ujz.1	+	6	716	c.675C>T	c.(673-675)ACC>ACT	p.T225T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	225					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGGAGCCCACCGTCTCCAGCT	0.672000												
ZNF10	7556	broad.mit.edu	37	12	133733401	133733401	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:133733401C>T	uc009zzb.2	+	5	2016	c.1569C>T	c.(1567-1569)GGC>GGT	p.G523G	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.G523G	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	523	C2H2-type 11; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATCAATGTGGCATTATCTTCA	0.408000												
USPL1	10208	broad.mit.edu	37	13	31233355	31233355	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31233355C>T	uc001utc.2	+	9	3573	c.3141C>T	c.(3139-3141)TGC>TGT	p.C1047C	USPL1_uc001utd.2_Silent_p.C718C|USPL1_uc001ute.1_Silent_p.C718C	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1047					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)		ATAATGCCTGCGTTAGAACAT	0.398000												
USPL1	10208	broad.mit.edu	37	13	31233466	31233466	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31233466C>T	uc001utc.2	+	9	3684	c.3252C>T	c.(3250-3252)TTC>TTT	p.F1084F	USPL1_uc001utd.2_Silent_p.F755F|USPL1_uc001ute.1_Silent_p.F755F	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1084					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)		TACCTCATTTCGATGAATATC	0.299000												
C13orf33	84935	broad.mit.edu	37	13	31480912	31480912	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31480912T>G	uc001uth.3	+	1	601	c.260T>G	c.(259-261)CTC>CGC	p.L87R	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	87											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		CTCTACCGCCTCAGCAGCTAC	0.587000												
KL	9365	broad.mit.edu	37	13	33590827	33590827	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:33590827C>T	uc001uus.2	+	1	257	c.249C>T	c.(247-249)CAC>CAT	p.H83H	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	83	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCAGCAGCACGGCAAGGGTG	0.741000												
KL	9365	broad.mit.edu	37	13	33591260	33591260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:33591260G>A	uc001uus.2	+	1	690	c.682G>A	c.(682-684)GGC>AGC	p.G228S	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	228	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGCCACTTCGGCGGTCAGGT	0.711000												
EXOSC8	11340	broad.mit.edu	37	13	37582924	37582924	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:37582924A>C	uc001uwa.2	+	10	932	c.667A>C	c.(667-669)ACA>CCA	p.T223P	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Missense_Mutation_p.T223P|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	223					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)		AGGAACCTTAACAATAGTAAT	0.393000												
FREM2	341640	broad.mit.edu	37	13	39435611	39435611	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:39435611G>A	uc001uwv.2	+	15	7872	c.7563G>A	c.(7561-7563)CCG>CCA	p.P2521P	FREM2_uc001uww.2_Silent_p.P607P	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2521	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)		GAGCAGAGCCGTTCTCAGCTA	0.438000												
LHFP	10186	broad.mit.edu	37	13	40175215	40175215	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:40175215A>G	uc001uxf.2	-	2	650	c.139T>C	c.(139-141)TTC>CTC	p.F47L		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	47						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CACCTCCGGAAGGTACCGAAG	0.567000			T	HMGA2	lipoma							
MRPS31	10240	broad.mit.edu	37	13	41303725	41303725	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:41303725T>C	uc001uxm.3	-	7	1046	c.971A>G	c.(970-972)GAT>GGT	p.D324G	MIR320D-1_hsa-mir-320d-1|MI0008190_5'Flank	NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	324						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TTCTGAACCATCATCATCAAA	0.323000												
AKAP11	11215	broad.mit.edu	37	13	42877676	42877676	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:42877676C>T	uc001uys.1	+	8	4969	c.4794C>T	c.(4792-4794)TGC>TGT	p.C1598C		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	1598					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)		TCCACAATTGCACTGGAAATT	0.433000												
TSC22D1	8848	broad.mit.edu	37	13	45149774	45149774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:45149774G>A	uc001uzn.3	-	1	928	c.437C>T	c.(436-438)ACG>ATG	p.T146M	TSC22D1_uc001uzo.1_Missense_Mutation_p.T146M	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	146					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGATCTTCCGTGTGAGATTC	0.478000												
COG3	83548	broad.mit.edu	37	13	46103989	46103989	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:46103989T>C	uc001vak.2	+	21	2395	c.2294T>C	c.(2293-2295)TTG>TCG	p.L765S	COG3_uc010tfv.1_Missense_Mutation_p.L602S|COG3_uc010aci.2_Missense_Mutation_p.L541S	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	765					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CCTGTGACATTGAGAAGTATG	0.383000												
SERPINE3	647174	broad.mit.edu	37	13	51935996	51935996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:51935996C>T	uc001vfh.2	+	7	1198	c.1138C>T	c.(1138-1140)CCA>TCA	p.P380S	SERPINE3_uc010tgp.1_Missense_Mutation_p.P380S|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfk.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	380					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						AGCAGATCGGCCATTCATCTA	0.358000												
THSD1	55901	broad.mit.edu	37	13	52960256	52960256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52960256G>A	uc001vgo.2	-	4	1632	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	363	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCGGCGACGCTCTCTGACA	0.542000												
THSD1	55901	broad.mit.edu	37	13	52960305	52960305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52960305C>T	uc001vgo.2	-	4	1583	c.1038G>A	c.(1036-1038)TGG>TGA	p.W346*	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	346	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCCATGGCTGCCACAGTCCCC	0.483000												
THSD1	55901	broad.mit.edu	37	13	52971604	52971604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:52971604G>A	uc001vgo.2	-	3	1329	c.784C>T	c.(784-786)CCT>TCT	p.P262S	THSD1_uc001vgp.2_Missense_Mutation_p.P262S|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	262	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CATGGTGGAGGCAGCACTGTC	0.552000												
PCDH8	5100	broad.mit.edu	37	13	53420351	53420351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:53420351C>T	uc001vhi.2	-	1	2424	c.2221G>A	c.(2221-2223)GGG>AGG	p.G741R	PCDH8_uc001vhj.2_Missense_Mutation_p.G741R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	741	Extracellular (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCACCGACCCGGACACCCCG	0.711000												
PCDH17	27253	broad.mit.edu	37	13	58207290	58207290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58207290G>A	uc001vhq.1	+	1	1502	c.610G>A	c.(610-612)GAG>AAG	p.E204K	PCDH17_uc010aec.1_Missense_Mutation_p.E204K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	204	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTGGACCGCGAGCAACAGAA	0.602000												
PCDH17	27253	broad.mit.edu	37	13	58207934	58207934	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58207934C>T	uc001vhq.1	+	1	2146	c.1254C>T	c.(1252-1254)TAC>TAT	p.Y418Y	PCDH17_uc010aec.1_Silent_p.Y418Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	418	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGAGAACTACGACAACTTCT	0.522000												
PCDH17	27253	broad.mit.edu	37	13	58208012	58208012	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58208012G>A	uc001vhq.1	+	1	2224	c.1332G>A	c.(1330-1332)GCG>GCA	p.A444A	PCDH17_uc010aec.1_Silent_p.A444A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	444	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCATCGTGGCGCGGGACGGGG	0.587000												
PCDH17	27253	broad.mit.edu	37	13	58208351	58208351	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:58208351G>A	uc001vhq.1	+	1	2563	c.1671G>A	c.(1669-1671)TCG>TCA	p.S557S	PCDH17_uc010aec.1_Silent_p.S557S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	557	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTAAGGACTCGGGGGCGCCCG	0.592000												
NDFIP2	54602	broad.mit.edu	37	13	80125185	80125185	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:80125185A>T	uc001vlf.2	+	7	1021	c.941A>T	c.(940-942)TAT>TTT	p.Y314F	NDFIP2_uc010tib.1_Missense_Mutation_p.Y294F|NDFIP2_uc001vlg.2_RNA	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2 isoform 1	314	Extracellular (Potential).				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TTTGTTAATTATCTAAAAGTC	0.328000												
SLITRK6	84189	broad.mit.edu	37	13	86369595	86369595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:86369595C>T	uc001vll.1	-	2	1508	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	SLITRK6_uc010afe.1_Missense_Mutation_p.R115H	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	350	Extracellular (Potential).|LRRNT 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCAATGTTGCGCTCCTGACA	0.418000												
DZIP1	22873	broad.mit.edu	37	13	96242593	96242593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:96242593G>A	uc001vmk.2	-	17	2635	c.1783C>T	c.(1783-1785)CGA>TGA	p.R595*	DZIP1_uc001vmi.2_5'Flank|DZIP1_uc001vmj.2_Nonsense_Mutation_p.R71*|DZIP1_uc001vml.2_Nonsense_Mutation_p.R576*	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	595					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGGAATTCTCGAATTTGATGA	0.368000												
RNF113B	140432	broad.mit.edu	37	13	98829062	98829062	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:98829062G>A	uc001vnk.2	-	1	460	c.429C>T	c.(427-429)CAC>CAT	p.H143H	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	143							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGATGTGGTCGTGCTCCCGAC	0.642000												
ZIC5	85416	broad.mit.edu	37	13	100622673	100622673	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:100622673C>T	uc001vom.1	-	1	1506	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	zinc finger protein of the cerebellum 5	419	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					gcggtggcggcggcggcggcg	0.488000												
ZIC2	7546	broad.mit.edu	37	13	100637592	100637592	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:100637592C>A	uc001von.2	+	3	1255	c.1255C>A	c.(1255-1257)CCG>ACG	p.P419T		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	419					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGTCCTCCCCGCAGGGCTC	0.706000												
LIG4	3981	broad.mit.edu	37	13	108861786	108861786	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:108861786C>T	uc001vqn.2	-	2	2104	c.1831G>A	c.(1831-1833)GCA>ACA	p.A611T	LIG4_uc001vqo.2_Missense_Mutation_p.A611T|LIG4_uc010agg.1_Missense_Mutation_p.A544T|LIG4_uc010agf.2_Missense_Mutation_p.A611T|LIG4_uc001vqp.2_Missense_Mutation_p.A611T	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	611					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGTTTAGATGCGAGCTTACCA	0.423000								NHEJ				
MCF2L	23263	broad.mit.edu	37	13	113719271	113719271	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:113719271A>G	uc001vsu.2	+	7	821	c.799A>G	c.(799-801)ATG>GTG	p.M267V	MCF2L_uc001vsq.2_Missense_Mutation_p.M267V|MCF2L_uc010tjr.1_Missense_Mutation_p.M210V|MCF2L_uc001vsr.2_Missense_Mutation_p.M214V|MCF2L_uc001vss.3_Missense_Mutation_p.M208V|MCF2L_uc010tjs.1_Missense_Mutation_p.M208V|MCF2L_uc001vst.1_Missense_Mutation_p.M172V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	240					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTTCGCCCTCATGGTGAAGCA	0.582000												
PCID2	55795	broad.mit.edu	37	13	113835535	113835535	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:113835535T>C	uc010tju.1	-	10	776	c.695A>G	c.(694-696)TAC>TGC	p.Y232C	PCID2_uc001vtb.2_Missense_Mutation_p.Y65C|PCID2_uc010tjv.1_Missense_Mutation_p.Y232C|PCID2_uc010tjw.1_Missense_Mutation_p.Y232C|PCID2_uc001vte.2_Missense_Mutation_p.Y125C|PCID2_uc001vtd.2_Missense_Mutation_p.Y125C|PCID2_uc001vtf.2_Missense_Mutation_p.Y125C	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	232					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AAATGACAGGTACTCCTCAGC	0.463000												
RASA3	22821	broad.mit.edu	37	13	114776705	114776705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:114776705G>A	uc001vui.2	-	16	1663	c.1532C>T	c.(1531-1533)ACG>ATG	p.T511M	RASA3_uc010tkk.1_Missense_Mutation_p.T479M|RASA3_uc001vuj.2_Missense_Mutation_p.T128M	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	511	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAATGTCAGCGTCCTGGACGT	0.527000												
OR4N5	390437	broad.mit.edu	37	14	20612565	20612565	+	Missense_Mutation	SNP	G	G	A	rs143406902	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:20612565G>A	uc010tla.1	+	1	671	c.671G>A	c.(670-672)CGT>CAT	p.R224H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCCTCTGTCGTATAAGGGAG	0.483000												
RNASE6	6039	broad.mit.edu	37	14	21250189	21250189	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:21250189T>C	uc001vye.3	+	2	624	c.331T>C	c.(331-333)TAT>CAT	p.Y111H		NM_005615	NP_005606	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6 precursor	111					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TTCAGGAAAGTATCCCCAGTG	0.512000												
JUB	84962	broad.mit.edu	37	14	23443287	23443287	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23443287C>T	uc001whz.2	-	7	1836	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q	JUB_uc001why.2_Missense_Mutation_p.R70Q	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	487	LIM zinc-binding 3.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		GTGATAATCCCGGTCCATGGA	0.552000											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYH6	4624	broad.mit.edu	37	14	23870060	23870060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23870060T>C	uc001wjv.2	-	13	1335	c.1268A>G	c.(1267-1269)TAC>TGC	p.Y423C	MYH6_uc010akp.1_Missense_Mutation_p.Y423C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	423	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCGATGGAGTAGTACACCTG	0.597000												
MYH7	4625	broad.mit.edu	37	14	23891463	23891463	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:23891463G>A	uc001wjx.2	-	25	3277	c.3171C>T	c.(3169-3171)GGC>GGT	p.G1057G		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1057	Potential.		G -> S (in CMH1).|G -> D (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTTCAGGTCGCCCTCCAGCT	0.597000												
GZMH	2999	broad.mit.edu	37	14	25076614	25076614	+	Splice_Site	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:25076614T>G	uc001wpr.1	-	4	385	c.340_splice	c.e4-1	p.L114_splice	GZMH_uc010aly.1_Intron|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor						apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		TCTCTCCAGCTGGTGGGGAAG	0.607000												
FOXG1	2290	broad.mit.edu	37	14	29237333	29237333	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:29237333A>G	uc001wqe.2	+	1	1047	c.848A>G	c.(847-849)AAG>AGG	p.K283R		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	283					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)		TCGCGGGCCAAGCTGGCCTTC	0.697000												
G2E3	55632	broad.mit.edu	37	14	31084704	31084704	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31084704A>G	uc001wqk.2	+	14	1977	c.1823A>G	c.(1822-1824)AAA>AGA	p.K608R	G2E3_uc010tpf.1_Missense_Mutation_p.K562R|G2E3_uc001wql.1_Missense_Mutation_p.K120R	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	608	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CCTGATGTGAAAGCTTTGGGG	0.353000												
HECTD1	25831	broad.mit.edu	37	14	31574620	31574620	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31574620C>T	uc001wrc.1	-	40	7857	c.7368G>A	c.(7366-7368)ACG>ACA	p.T2456T	HECTD1_uc001wra.1_Silent_p.T582T|HECTD1_uc001wrb.1_Silent_p.T582T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2456	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)		TCTGAATACCCGTATGCATAC	0.318000												
HEATR5A	25938	broad.mit.edu	37	14	31785042	31785042	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:31785042T>C	uc001wrf.3	-	21	3350	c.3273A>G	c.(3271-3273)CTA>CTG	p.L1091L	HEATR5A_uc010ami.2_Silent_p.L989L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1378							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATAAGTGACTTAGAGCTTCTT	0.388000												
BAZ1A	11177	broad.mit.edu	37	14	35276669	35276669	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:35276669G>A	uc001wsk.2	-	6	1282	c.714C>T	c.(712-714)GTC>GTT	p.V238V	BAZ1A_uc001wsl.2_Silent_p.V238V|BAZ1A_uc001wsm.1_Silent_p.V238V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	238					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTATTTTAATGACTCCATCTT	0.328000												
PSMA6	5687	broad.mit.edu	37	14	35782126	35782126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:35782126A>G	uc001wtd.2	+	5	558	c.449A>G	c.(448-450)CAG>CGG	p.Q150R	KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.Q71R|PSMA6_uc010tpu.1_Missense_Mutation_p.Q71R	NM_002791	NP_002782	P60900	PSA6_HUMAN	proteasome alpha 6 subunit	150					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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAAGGCCCTCAGGTATATAAG	0.378000												
KLHL28	54813	broad.mit.edu	37	14	45414707	45414707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45414707C>T	uc001wvq.2	-	2	671	c.425G>A	c.(424-426)CGT>CAT	p.R142H	KLHL28_uc001wvr.2_Missense_Mutation_p.R142H|KLHL28_uc001wvt.3_Missense_Mutation_p.R142H	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	142										ovary(1)	1						TTCTGCAAAACGAGAAATTCC	0.398000												
FANCM	57697	broad.mit.edu	37	14	45642364	45642364	+	Missense_Mutation	SNP	G	G	A	rs142763060		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45642364G>A	uc001wwd.3	+	13	2366	c.2267G>A	c.(2266-2268)CGC>CAC	p.R756H	FANCM_uc010anf.2_Missense_Mutation_p.R730H|FANCM_uc001wwe.3_Missense_Mutation_p.R292H|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	756					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GATCGATGCCGCCATTTTATA	0.418000								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
RPL10L	140801	broad.mit.edu	37	14	47120511	47120511	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:47120511C>A	uc001wwg.2	-	1	518	c.429G>T	c.(427-429)CAG>CAT	p.Q143H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	143					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GCTCCTCGTTCTGAAGCTTGG	0.532000												
SDCCAG1	9147	broad.mit.edu	37	14	50298924	50298924	+	Splice_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:50298924C>T	uc001wxc.2	-	9	874	c.806_splice	c.e9+1	p.T269_splice	SDCCAG1_uc010anj.1_Splice_Site_p.T269_splice|SDCCAG1_uc010tqi.1_Splice_Site_p.T269_splice|SDCCAG1_uc001wxe.2_Splice_Site_p.T227_splice|SDCCAG1_uc001wxd.1_5'Flank|SDCCAG1_uc010anq.1_Splice_Site_p.T40_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		TATATGCTTACGTCAGTATGT	0.323000												
GPR137C	283554	broad.mit.edu	37	14	53100600	53100600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:53100600G>A	uc001wzu.3	+	6	1048	c.1048G>A	c.(1048-1050)GAC>AAC	p.D350N	GPR137C_uc001wzt.3_Missense_Mutation_p.D366N	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	350	Cytoplasmic (Potential).					integral to membrane					0	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393000												
C14orf149	112849	broad.mit.edu	37	14	59950879	59950879	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:59950879G>T	uc001xee.1	-	1	195	c.156C>A	c.(154-156)CGC>CGA	p.R52R	C14orf149_uc010trx.1_Silent_p.R52R|JKAMP_uc001xef.3_5'Flank|JKAMP_uc001xeh.3_5'Flank|JKAMP_uc001xeg.3_5'Flank|JKAMP_uc010try.1_5'Flank|JKAMP_uc001xei.3_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	52							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GGCGCATGTAGCGCCGCTTGG	0.697000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf39	317761	broad.mit.edu	37	14	60928227	60928227	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:60928227T>C	uc001xez.3	-	12	1167	c.1057A>G	c.(1057-1059)AGA>GGA	p.R353G	C14orf39_uc010apo.2_Missense_Mutation_p.R64G	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	353										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AAAAGTTACCTGACTTGCATA	0.249000												
PLEKHG3	26030	broad.mit.edu	37	14	65198119	65198119	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:65198119T>C	uc001xho.1	+	8	1159	c.890T>C	c.(889-891)CTG>CCG	p.L297P	PLEKHG3_uc001xhn.1_Missense_Mutation_p.L241P|PLEKHG3_uc001xhp.2_Missense_Mutation_p.L297P|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	297	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCCCGACCTGACCACCTAC	0.577000												
FUT8	2530	broad.mit.edu	37	14	66209057	66209057	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:66209057T>C	uc001xin.2	+	11	2854	c.1657T>C	c.(1657-1659)TAT>CAT	p.Y553H	FUT8_uc001xio.2_Missense_Mutation_p.Y553H|FUT8_uc010tsp.1_Missense_Mutation_p.Y390H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y553H|FUT8_uc001xiq.2_Missense_Mutation_p.Y424H|FUT8_uc001xis.2_Missense_Mutation_p.Y147H	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	553	SH3.|Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GACGGGCCTATATCCCTCCTA	0.443000												
GPHN	10243	broad.mit.edu	37	14	67647553	67647553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:67647553C>T	uc001xiy.2	+	22	3231	c.2110C>T	c.(2110-2112)CGC>TGC	p.R704C	GPHN_uc001xix.2_Missense_Mutation_p.R737C|GPHN_uc010tss.1_Missense_Mutation_p.R750C|GPHN_uc010tst.1_Missense_Mutation_p.R673C|GPHN_uc010tsu.1_Missense_Mutation_p.R627C	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	704	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GATGAGCATGCGCAGTGCCAA	0.483000			T	MLL	AL							
ATP6V1D	51382	broad.mit.edu	37	14	67814169	67814169	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:67814169A>G	uc001xjf.2	-	5	485	c.309T>C	c.(307-309)GGT>GGC	p.G103G	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	103					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		GCAAAGTAACACCTGTTAAAC	0.254000												
SLC8A3	6547	broad.mit.edu	37	14	70518795	70518795	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:70518795T>C	uc001xly.2	-	5	2697	c.1943A>G	c.(1942-1944)GAG>GGG	p.E648G	SLC8A3_uc001xlu.2_Missense_Mutation_p.E5G|SLC8A3_uc001xlv.2_Missense_Mutation_p.E19G|SLC8A3_uc001xlw.2_Missense_Mutation_p.E645G|SLC8A3_uc001xlx.2_Missense_Mutation_p.E646G|SLC8A3_uc001xlz.2_Missense_Mutation_p.E642G|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.E5G	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	648	Cytoplasmic (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)		CCTCTTGGCCTCCTCTTCTTC	0.453000												
MED6	10001	broad.mit.edu	37	14	71059641	71059641	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:71059641G>T	uc001xmf.2	-	5	452	c.422C>A	c.(421-423)CCT>CAT	p.P141H	MED6_uc010tth.1_Missense_Mutation_p.P148H|MED6_uc010tti.1_Missense_Mutation_p.P141H|MED6_uc001xmg.1_Missense_Mutation_p.P141H|MED6_uc010ttj.1_3'UTR	NM_005466	NP_005457	O75586	MED6_HUMAN	mediator of RNA polymerase II transcription,	141					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity				0				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		CCCTTTGGAAGGATGATATCG	0.373000												
DCAF4	26094	broad.mit.edu	37	14	73421139	73421139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:73421139G>A	uc001xng.2	+	11	1173	c.953G>A	c.(952-954)CGG>CAG	p.R318Q	DCAF4_uc001xnj.2_Missense_Mutation_p.R319Q|DCAF4_uc010ttr.1_Missense_Mutation_p.R297Q|DCAF4_uc001xnh.2_Missense_Mutation_p.R218Q|DCAF4_uc010tts.1_Missense_Mutation_p.R258Q|DCAF4_uc010ttt.1_Missense_Mutation_p.R104Q|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Missense_Mutation_p.R318Q	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	318						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACGGGACACCGGCAGTCCTTT	0.537000												
YLPM1	56252	broad.mit.edu	37	14	75283784	75283784	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75283784A>G	uc001xqj.3	+	14	5960	c.5836A>G	c.(5836-5838)AGT>GGT	p.S1946G	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.S429G	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1751					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAGTTTTGGAGTGCAGCAAA	0.353000												
TMED10	10972	broad.mit.edu	37	14	75601704	75601704	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75601704T>C	uc001xrm.1	-	5	611	c.544A>G	c.(544-546)ACA>GCA	p.T182A	TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_Missense_Mutation_p.T57A	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	182	Lumenal (Potential).|GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CGAGTGTTTGTTGACTCTAAA	0.433000												
TTLL5	23093	broad.mit.edu	37	14	76238150	76238150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:76238150G>A	uc001xrx.2	+	21	2294	c.2089G>A	c.(2089-2091)GGT>AGT	p.G697S	TTLL5_uc010ask.1_Missense_Mutation_p.G711S|TTLL5_uc001xrz.2_Missense_Mutation_p.G272S|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	697					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)		AGACAGTGGCGGTCAGACGTT	0.383000												
NRXN3	9369	broad.mit.edu	37	14	79175877	79175877	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:79175877C>T	uc001xun.2	+	4	911	c.420C>T	c.(418-420)CTC>CTT	p.L140L	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L274L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	513	Extracellular (Potential).|Laminin G-like 3.				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)		TGGAACTCCTCGATGGCAACC	0.502000												
SPATA7	55812	broad.mit.edu	37	14	88903905	88903905	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:88903905C>T	uc001xwq.2	+	11	1330	c.1179C>T	c.(1177-1179)TTC>TTT	p.F393F	SPATA7_uc001xwr.2_Silent_p.F361F|SPATA7_uc001xws.2_Silent_p.F329F|SPATA7_uc001xwt.2_Silent_p.F287F|SPATA7_uc001xwu.2_Silent_p.F49F	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	393					response to stimulus|visual perception					ovary(1)	1						AACGACTGTTCGAGCGACATA	0.259000												
PTPN21	11099	broad.mit.edu	37	14	88945374	88945374	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:88945374G>T	uc001xwv.3	-	13	2732	c.2401C>A	c.(2401-2403)CTC>ATC	p.L801I	PTPN21_uc010twc.1_Missense_Mutation_p.L597I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	801						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						GACGTGGTGAGGTCGGACTCC	0.647000												
TRIP11	9321	broad.mit.edu	37	14	92487911	92487911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:92487911G>A	uc001xzy.2	-	4	1365	c.577C>T	c.(577-579)CAT>TAT	p.H193Y		NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	193	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TGAGCAATATGCCTCCAATGG	0.318000			T	PDGFRB	AML							
CPSF2	53981	broad.mit.edu	37	14	92608661	92608661	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:92608661T>C	uc001yah.1	+	8	1052	c.815T>C	c.(814-816)GTC>GCC	p.V272A		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	272					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CTAAATAATGTCAGTTACAAT	0.428000												
RIN3	79890	broad.mit.edu	37	14	93118854	93118854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93118854C>T	uc001yap.2	+	6	1612	c.1460C>T	c.(1459-1461)GCG>GTG	p.A487V	RIN3_uc010auk.2_Missense_Mutation_p.A149V|RIN3_uc001yaq.2_Missense_Mutation_p.A412V|RIN3_uc001yar.1_Missense_Mutation_p.A149V|RIN3_uc001yas.1_Missense_Mutation_p.A149V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	487	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGCACACAGGCGATGGCCTTG	0.637000												
RIN3	79890	broad.mit.edu	37	14	93154577	93154577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93154577C>T	uc001yap.2	+	10	3090	c.2938C>T	c.(2938-2940)CGG>TGG	p.R980W	RIN3_uc010auk.2_Missense_Mutation_p.R642W|RIN3_uc001yaq.2_Missense_Mutation_p.R905W	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	980					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCTGGTGGTGCGGGAGCCCAA	0.756000												
BTBD7	55727	broad.mit.edu	37	14	93761188	93761188	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93761188T>C	uc001ybo.2	-	3	504	c.178A>G	c.(178-180)ACC>GCC	p.T60A	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_5'UTR|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_5'UTR|BTBD7_uc001ybr.2_Missense_Mutation_p.T60A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	60										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGACCAGAGGTTCTCTTTTTT	0.458000												
COX8C	341947	broad.mit.edu	37	14	93813633	93813633	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:93813633C>T	uc001ybt.1	+	1	97	c.19C>T	c.(19-21)CGC>TGC	p.R7C	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	7						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCTGCGTGGGCGCTGTCCTGC	0.706000												
SERPINA3	12	broad.mit.edu	37	14	95058423	95058423	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:95058423C>T	uc001ydo.3	+	1	29	c.-859C>T	c.(-861--857)GACGA>GATGA		SERPINA5_uc001ydm.2_Silent_p.D356D	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3						acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGGAGGTGGACGAGTCGGGAA	0.572000												
SETD3	84193	broad.mit.edu	37	14	99865332	99865332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:99865332C>T	uc001ygc.2	-	13	1639	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	490					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CATCTGTTGGCGATAGTATTC	0.498000												
YY1	7528	broad.mit.edu	37	14	100706003	100706003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:100706003G>A	uc001ygy.1	+	1	902	c.422G>A	c.(421-423)GGC>GAC	p.G141D		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	141					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding				0		Melanoma(154;0.152)				CCGGCCGGCGGCGACGACGAC	0.468000												
DYNC1H1	1778	broad.mit.edu	37	14	102471550	102471550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102471550C>T	uc001yks.2	+	26	5574	c.5410C>T	c.(5410-5412)CGA>TGA	p.R1804*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1804	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCCCCCACTCCGAAGGCGGAA	0.532000												
ZNF839	55778	broad.mit.edu	37	14	102807760	102807760	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102807760G>A	uc001ylo.2	+	8	2030	c.1680G>A	c.(1678-1680)CCG>CCA	p.P560P	ZNF839_uc010awk.1_Silent_p.P676P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Silent_p.P485P|ZNF839_uc001yls.2_Silent_p.P177P|ZNF839_uc001ylt.2_Silent_p.P150P	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	560						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGGCGGGCCCGCAGCTTCAGG	0.557000												
BAG5	9529	broad.mit.edu	37	14	104026839	104026839	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:104026839C>T	uc001yni.1	-	2	897	c.663G>A	c.(661-663)TCG>TCA	p.S221S	KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Silent_p.S262S|BAG5_uc001ynj.1_Silent_p.S221S|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5 isoform b	221	BAG 3.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			ovary(2)	2		Melanoma(154;0.155)	Epithelial(46;0.144)			CGATCAGCCCCGAGAGCACAC	0.493000												
AHNAK2	113146	broad.mit.edu	37	14	105406489	105406489	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:105406489G>A	uc010axc.1	-	7	15419	c.15299C>T	c.(15298-15300)GCC>GTC	p.A5100V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A5000V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5100						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)			ATCAGGTTTGGCAAAGCCCAA	0.572000												
PACS2	23241	broad.mit.edu	37	14	105843234	105843234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:105843234G>A	uc001yqt.2	+	9	1106	c.931G>A	c.(931-933)GTC>ATC	p.V311I	PACS2_uc001yqs.2_Missense_Mutation_p.V236I|PACS2_uc001yqv.2_Missense_Mutation_p.V311I|PACS2_uc001yqu.2_Missense_Mutation_p.V311I	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	311					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGACGACAGCGTCCTCAGCAC	0.667000												
C15orf2	23742	broad.mit.edu	37	15	24922914	24922914	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:24922914A>G	uc001ywo.2	+	1	2374	c.1900A>G	c.(1900-1902)AGT>GGT	p.S634G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	634					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)		TACCACCCCAAGTTTTAACCA	0.493000												
TJP1	7082	broad.mit.edu	37	15	30024733	30024733	+	Splice_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:30024733C>T	uc001zcr.2	-	15	2397	c.1922_splice	c.e15-1	p.A641_splice	TJP1_uc010azl.2_Splice_Site_p.A629_splice|TJP1_uc001zcq.2_Splice_Site_p.A645_splice|TJP1_uc001zcs.2_Splice_Site_p.A641_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAAATCCAGCTGGAGAGAAA	0.343000												
TRPM1	4308	broad.mit.edu	37	15	31362235	31362235	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:31362235A>G	uc001zfm.2	-	3	340	c.212T>C	c.(211-213)ATG>ACG	p.M71T	TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.M71T|uc010ubn.1_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	71	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTTCTCACCATGGCTTTATT	0.512000												
PLCB2	5330	broad.mit.edu	37	15	40581555	40581555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:40581555G>A	uc001zld.2	-	31	3573	c.3272C>T	c.(3271-3273)ACG>ATG	p.T1091M	PLCB2_uc001zlc.2_Missense_Mutation_p.T75M|PLCB2_uc010bbo.2_Missense_Mutation_p.T1087M|PLCB2_uc010ucm.1_Missense_Mutation_p.T1076M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1091	Potential.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAAGTTCTCCGTCATCTGGGT	0.388000												
IVD	3712	broad.mit.edu	37	15	40699905	40699905	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:40699905C>T	uc001zls.3	+	2	556	c.222C>T	c.(220-222)AGC>AGT	p.S74S	IVD_uc001zlq.2_Intron	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	71					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TCGATCGCAGCAATGAGTTCA	0.587000												
EXD1	161829	broad.mit.edu	37	15	41507974	41507974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:41507974G>A	uc001znk.2	-	4	463	c.272C>T	c.(271-273)GCG>GTG	p.A91V	EXD1_uc010ucv.1_Missense_Mutation_p.A149V	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	91	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						AATACTTACCGCAGCACCAAA	0.328000												
TGM5	9333	broad.mit.edu	37	15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:43552730G>A	uc001zrd.1	-	2	66	c.58C>T	c.(58-60)CGG>TGG	p.R20W	TGM5_uc001zre.1_Missense_Mutation_p.R20W	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		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;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.577000												
TGM7	116179	broad.mit.edu	37	15	43585153	43585153	+	Splice_Site	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:43585153C>A	uc001zrf.1	-	3	199	c.194_splice	c.e3-1	p.G65_splice		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7						peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;9.14e-07)	L-Glutamine(DB00130)	GGCTTGGGTCCTGTGTAGGAG	0.567000												
C15orf43	145645	broad.mit.edu	37	15	45253731	45253731	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45253731A>G	uc001zuk.2	+	4	314	c.297A>G	c.(295-297)AGA>AGG	p.R99R		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	99											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		AAATAAGAAGAAAAATTGGTA	0.294000												
DUOXA2	405753	broad.mit.edu	37	15	45408763	45408763	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45408763C>T	uc001zuo.2	+	4	670	c.390C>T	c.(388-390)TTC>TTT	p.F130F	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	130	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ACGAGCAGTTCACCTGGCGTC	0.622000												
FBN1	2200	broad.mit.edu	37	15	48796031	48796031	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:48796031T>G	uc001zwx.1	-	17	2394	c.2066A>C	c.(2065-2067)GAG>GCG	p.E689A		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	689	TB 3.				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)		AAATGCATACTCAGTGCTGGC	0.507000												
TRPM7	54822	broad.mit.edu	37	15	50905919	50905919	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:50905919C>T	uc001zyt.3	-	15	2019	c.1755G>A	c.(1753-1755)CAG>CAA	p.Q585Q	TRPM7_uc010bew.1_Silent_p.Q585Q|TRPM7_uc001zyu.2_Silent_p.Q143Q	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	585	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)		GTCGGTAGGGCTGTGCTGTCT	0.318000												
UNC13C	440279	broad.mit.edu	37	15	54307549	54307549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:54307549C>T	uc002ack.2	+	1	2449	c.2449C>T	c.(2449-2451)CAG>TAG	p.Q817*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	817					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)		CAAAAGCACACAGAGTCTGAG	0.428000												
LDHAL6B	92483	broad.mit.edu	37	15	59499291	59499291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:59499291C>T	uc002agb.2	+	1	250	c.152C>T	c.(151-153)GCG>GTG	p.A51V	MYO1E_uc002aga.2_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	51					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding				0					NADH(DB00157)	AGCAAGATGGCGACTGTGAAG	0.577000												
RORA	6095	broad.mit.edu	37	15	60803702	60803702	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:60803702C>T	uc002agv.2	-	6	798	c.642G>A	c.(640-642)CCG>CCA	p.P214P	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.P126P|RORA_uc002agw.2_Silent_p.P206P|RORA_uc002agx.2_Silent_p.P181P	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	214	Hinge.				positive regulation of transcription from RNA polymerase II promoter|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|zinc ion binding			large_intestine(1)|ovary(1)	2						TGGGCGTCAGCGGCTCAGCCT	0.577000												
HERC1	8925	broad.mit.edu	37	15	63967208	63967208	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:63967208C>T	uc002amp.2	-	38	7327	c.7179G>A	c.(7177-7179)CTG>CTA	p.L2393L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2393					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						TTAGGTCCAGCAGCACAGAAG	0.498000												
HERC1	8925	broad.mit.edu	37	15	64045263	64045263	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:64045263G>C	uc002amp.2	-	8	1944	c.1796C>G	c.(1795-1797)ACC>AGC	p.T599S	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T599S	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	599	RCC1 5.				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						CACTCTGTTGGTATCACCATG	0.338000												
ANP32A	8125	broad.mit.edu	37	15	69072443	69072443	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:69072443C>A	uc002arl.2	-	7	898	c.727G>T	c.(727-729)GAT>TAT	p.D243Y		NM_006305	NP_006296	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32	243	Interaction with E4F1 (By similarity).|Asp/Glu-rich (highly acidic).				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding				0						TCTCCCTCATCTTCAGGTTCT	0.413000												
THSD4	79875	broad.mit.edu	37	15	71535347	71535347	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:71535347G>C	uc002atb.1	+	4	903	c.824G>C	c.(823-825)GGG>GCG	p.G275A	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	275	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GGGACCCATGGGGCAACTCAG	0.537000												
SNX33	257364	broad.mit.edu	37	15	75949395	75949395	+	Missense_Mutation	SNP	G	G	A	rs140532329		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:75949395G>A	uc002bau.2	+	2	1660	c.1564G>A	c.(1564-1566)GTG>ATG	p.V522M	SNX33_uc002bav.2_Missense_Mutation_p.V135M	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	522	BAR.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						GCGCTGCCGCGTGGTGGGTTT	0.622000												
C15orf27	123591	broad.mit.edu	37	15	76496111	76496111	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:76496111A>G	uc002bbq.2	+	11	1206	c.1051A>G	c.(1051-1053)ATG>GTG	p.M351V	C15orf27_uc010bkp.2_Missense_Mutation_p.M167V|C15orf27_uc002bbr.2_Missense_Mutation_p.M167V|C15orf27_uc002bbs.2_Missense_Mutation_p.M29V	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	351						integral to membrane					0						AGCTGTGTGTATGGTCACCAC	0.592000												
TMC3	342125	broad.mit.edu	37	15	81636343	81636343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:81636343G>A	uc002bgo.1	-	14	1562	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.A521V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	521	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						CAGAATGCTCGCCACGGTGAA	0.517000												
AP3B2	8120	broad.mit.edu	37	15	83328384	83328384	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:83328384C>T	uc010uoh.1	-	26	3354	c.3177G>A	c.(3175-3177)CTG>CTA	p.L1059L	AP3B2_uc010uoi.1_Silent_p.L1078L|AP3B2_uc010uoj.1_Silent_p.L1027L|AP3B2_uc010bmp.2_Silent_p.L122L|AP3B2_uc010uog.1_Silent_p.L695L	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	1059					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGTTGACAGTCAGCTGGGCAG	0.557000												
ALPK3	57538	broad.mit.edu	37	15	85382261	85382261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:85382261C>T	uc002ble.2	+	4	1128	c.961C>T	c.(961-963)CGC>TGC	p.R321C		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	321	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGCTGGACCGCTACTGTGG	0.527000												
ALPK3	57538	broad.mit.edu	37	15	85405990	85405990	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:85405990T>C	uc002ble.2	+	10	5027	c.4860T>C	c.(4858-4860)TGT>TGC	p.C1620C	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1620	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATATGGGTGTGGCCTTCGGA	0.607000												
ZNF774	342132	broad.mit.edu	37	15	90904288	90904288	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:90904288G>T	uc002bpk.3	+	4	1411	c.1225G>T	c.(1225-1227)GGG>TGG	p.G409W		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	409	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGAGAGTGTGGGAAGAGCTT	0.502000												
CRTC3	64784	broad.mit.edu	37	15	91181743	91181743	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:91181743G>A	uc002bpp.2	+	12	1438	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P	CRTC3_uc002bpo.2_Silent_p.P444P	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	444	Poly-Pro.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGTGTCGCCGCCACCCCCTT	0.632000			T	MAML2	salivary gland mucoepidermoid							
CRTC3	64784	broad.mit.edu	37	15	91185178	91185178	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:91185178A>G	uc002bpp.2	+	15	1772	c.1666A>G	c.(1666-1668)AGC>GGC	p.S556G	CRTC3_uc002bpo.2_Missense_Mutation_p.S555G	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	556					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTCCAGCACCAGCCTGTTCAA	0.567000			T	MAML2	salivary gland mucoepidermoid							
CHD2	1106	broad.mit.edu	37	15	93521592	93521592	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:93521592T>C	uc002bsp.2	+	21	3281	c.2706T>C	c.(2704-2706)CAT>CAC	p.H902H	CHD2_uc002bso.1_Silent_p.H902H|CHD2_uc010bog.1_Missense_Mutation_p.I176T|CHD2_uc010boh.1_Silent_p.H96H	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	902	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCGAGCGCATAGAATTGGTC	0.517000												
ARRDC4	91947	broad.mit.edu	37	15	98512505	98512505	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:98512505G>A	uc010bom.2	+	5	937	c.778G>A	c.(778-780)GCT>ACT	p.A260T	ARRDC4_uc002bui.3_Missense_Mutation_p.A173T	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	260					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AAACCACATCGCTTCTGGGAG	0.458000												
LRRK1	79705	broad.mit.edu	37	15	101606847	101606847	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:101606847G>A	uc002bwr.2	+	33	6090	c.5771G>A	c.(5770-5772)CGC>CAC	p.R1924H	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1924					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)			TTGCTTAGGCGCGGTGGAGAT	0.602000												
PCSK6	5046	broad.mit.edu	37	15	101938657	101938657	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:101938657G>A	uc002bwy.2	-	8	1262	c.948C>T	c.(946-948)GAC>GAT	p.D316D	PCSK6_uc010bpd.2_Silent_p.D186D|PCSK6_uc010bpe.2_Silent_p.D316D|PCSK6_uc002bxa.2_Silent_p.D316D|PCSK6_uc002bxb.2_Silent_p.D316D|PCSK6_uc002bxc.1_Silent_p.D316D|PCSK6_uc002bxd.1_Silent_p.D316D|PCSK6_uc002bxe.2_Silent_p.D316D|PCSK6_uc002bxg.1_Silent_p.D316D	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	316	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCGGGCCCGTCCACCGTCT	0.582000												
RGS11	8786	broad.mit.edu	37	16	320824	320824	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:320824T>G	uc002cgj.1	-	14	989	c.986A>C	c.(985-987)AAC>ACC	p.N329T	RGS11_uc002cgi.1_Missense_Mutation_p.N308T|RGS11_uc010bqs.1_Missense_Mutation_p.N318T|RGS11_uc002cgk.1_Missense_Mutation_p.N145T	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	329	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GAAGCTGAGGTTTTCTCCTGG	0.657000												
TMEM8A	58986	broad.mit.edu	37	16	424064	424064	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:424064C>A	uc002cgu.3	-	11	1972	c.1843G>T	c.(1843-1845)GGG>TGG	p.G615W	TMEM8A_uc002cgv.3_Missense_Mutation_p.G422W	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	615	Helical; (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						ATGGCCGCCCCGGAGCCCAAG	0.652000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PIGQ	9091	broad.mit.edu	37	16	628430	628430	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:628430G>A	uc002cho.2	+	5	1096	c.994G>A	c.(994-996)GCC>ACC	p.A332T	PIGQ_uc010bqw.2_Missense_Mutation_p.A332T|PIGQ_uc002chn.2_Missense_Mutation_p.A332T|PIGQ_uc010uui.1_Missense_Mutation_p.A346T	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	332	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GGGTGCTCCCGCCGGGCTCAA	0.682000												
SSTR5	6755	broad.mit.edu	37	16	1129867	1129867	+	Silent	SNP	G	G	A	rs138635434	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1129867G>A	uc002ckq.2	+	1	1087	c.999G>A	c.(997-999)ACG>ACA	p.T333T	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	333	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTGACGCCACGGAGCCGCGTC	0.657000												
AMDHD2	51005	broad.mit.edu	37	16	2570787	2570787	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2570787G>T	uc002cqq.2	+	2	198	c.101G>T	c.(100-102)CGC>CTC	p.R34L	AMDHD2_uc002cqp.2_Missense_Mutation_p.R34L|AMDHD2_uc010uwc.1_Missense_Mutation_p.R34L|AMDHD2_uc010uwd.1_Intron	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	34					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						CTGTGGGTGCGCGGAGGCCGC	0.577000												
SRRM2	23524	broad.mit.edu	37	16	2818141	2818141	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2818141T>C	uc002crk.2	+	11	8161	c.7612T>C	c.(7612-7614)TCG>CCG	p.S2538P	SRRM2_uc002crj.1_Missense_Mutation_p.S2442P|SRRM2_uc002crl.1_Missense_Mutation_p.S2538P|SRRM2_uc010bsu.1_Missense_Mutation_p.S2442P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2538	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						ctcgtcgtcgtcgtcctctag	0.403000												
PRSS21	10942	broad.mit.edu	37	16	2868785	2868785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:2868785C>T	uc002crt.2	+	4	471	c.365C>T	c.(364-366)TCG>TTG	p.S122L	PRSS21_uc002crs.2_Missense_Mutation_p.S120L|PRSS21_uc002crr.2_Missense_Mutation_p.S122L	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	122	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						TACTTCGTATCGAATATCTAT	0.537000												
PKMYT1	9088	broad.mit.edu	37	16	3024375	3024375	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3024375C>T	uc002csn.2	-	6	1466	c.1023G>A	c.(1021-1023)GAG>GAA	p.E341E	PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.E341E|PKMYT1_uc002cso.2_Silent_p.E272E|PKMYT1_uc002csp.2_Silent_p.E332E|PKMYT1_uc002csq.2_Silent_p.E332E|PKMYT1_uc010bsy.1_Silent_p.E332E	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	341	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						TGGGGTCTGGCTCCAGCATCA	0.672000												
OR1F1	4992	broad.mit.edu	37	16	3254534	3254534	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3254534C>T	uc010uwu.1	+	1	288	c.288C>T	c.(286-288)GGC>GGT	p.G96G		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTTCTGTGGCTGTCTCACAC	0.507000												
FAM86A	196483	broad.mit.edu	37	16	5141836	5141836	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:5141836T>C	uc002cyo.2	-	4	350	c.301A>G	c.(301-303)ATG>GTG	p.M101V	FAM86A_uc002cyp.2_Intron	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	hypothetical protein LOC196483 isoform 1	101											0						TCCTTGGCCATCAGGGTCTCC	0.562000												
KIAA0430	9665	broad.mit.edu	37	16	15704908	15704908	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:15704908G>A	uc002ddr.2	-	19	3868	c.3675C>T	c.(3673-3675)ATC>ATT	p.I1225I	KIAA0430_uc002ddq.2_Silent_p.I1059I|KIAA0430_uc010uzv.1_Silent_p.I1221I|KIAA0430_uc010uzw.1_Silent_p.I1224I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1224						peroxisome	nucleotide binding|RNA binding				0						TCTCTGATACGATGTCAATCA	0.403000												
ABCC6	368	broad.mit.edu	37	16	16244559	16244559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:16244559C>T	uc002den.3	-	30	4316	c.4279G>A	c.(4279-4281)GAG>AAG	p.E1427K	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.E179K	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1427	Cytoplasmic (By similarity).|ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGTAGCCTCGTCCAGGATG	0.617000												
XYLT1	64131	broad.mit.edu	37	16	17235115	17235115	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:17235115G>C	uc002dfa.2	-	7	1567	c.1482C>G	c.(1480-1482)GAC>GAG	p.D494E		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	494	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCAGGAACCAGTCCGAACCGC	0.577000												
DNAH3	55567	broad.mit.edu	37	16	20990771	20990771	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:20990771A>G	uc010vbe.1	-	50	7957	c.7957T>C	c.(7957-7959)TCC>CCC	p.S2653P	DNAH3_uc010vbd.1_Missense_Mutation_p.S88P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2653					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)		TCAAGGTAGGAGGTGGGGGTA	0.463000												
HS3ST2	9956	broad.mit.edu	37	16	22926453	22926453	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:22926453T>A	uc002dli.2	+	2	746	c.674T>A	c.(673-675)ATC>AAC	p.I225N	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	225	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AAGCCCGACATCCCGACCTTT	0.597000												
APOB48R	55911	broad.mit.edu	37	16	28507606	28507606	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:28507606A>G	uc002dqb.1	+	3	1227	c.1217A>G	c.(1216-1218)GAG>GGG	p.E406G	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	406	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GAGGGGGATGAGGAGAGAGAG	0.582000												
SPN	6693	broad.mit.edu	37	16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:29675887C>T	uc002dtm.2	+	2	974	c.838C>T	c.(838-840)CGG>TGG	p.R280W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.R280W|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	280	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GTGGCGCCGGCGGCAGAAGCG	0.687000												
ZNF629	23361	broad.mit.edu	37	16	30794413	30794413	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30794413G>A	uc002dzs.1	-	3	1444	c.1236C>T	c.(1234-1236)AGC>AGT	p.S412S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	412	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TGGAGCTGACGCTGAAGCTCT	0.652000												
SETD1A	9739	broad.mit.edu	37	16	30976311	30976311	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30976311G>A	uc002ead.1	+	7	1934	c.1248G>A	c.(1246-1248)GAG>GAA	p.E416E		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	416	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						TGCCCCCCGAGCCCAGCCGGC	0.687000												
HSD3B7	80270	broad.mit.edu	37	16	30998198	30998198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:30998198G>A	uc002eaf.2	+	6	675	c.569G>A	c.(568-570)CGT>CAT	p.R190H	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.R190H	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	190					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						TGTGCCCTTCGTCCCACGGGC	0.677000												
ZNF668	79759	broad.mit.edu	37	16	31072541	31072541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31072541G>A	uc010caf.2	-	3	2065	c.1708C>T	c.(1708-1710)CGC>TGC	p.R570C	ZNF668_uc002eao.2_Missense_Mutation_p.R570C	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						GTGTAGGGGCGCACTGAGCTG	0.662000												
ZNF646	9726	broad.mit.edu	37	16	31088810	31088810	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31088810C>A	uc002eap.2	+	2	1454	c.1165C>A	c.(1165-1167)CTC>ATC	p.L389I		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	389	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGCTGGGAGCCTCATCAACCA	0.597000												
ITGAX	3687	broad.mit.edu	37	16	31373508	31373508	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:31373508T>C	uc002ebu.1	+	11	1266	c.1199T>C	c.(1198-1200)ATG>ACG	p.M400T	ITGAX_uc002ebt.2_Missense_Mutation_p.M400T|ITGAX_uc010vfk.1_Missense_Mutation_p.M50T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	400	FG-GAP 4.|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						AATGTGGACATGAGGGACTCT	0.597000												
CBLN1	869	broad.mit.edu	37	16	49315156	49315156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:49315156G>A	uc002efq.2	-	1	560	c.221C>T	c.(220-222)CCG>CTG	p.P74L		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	74	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				CATCTCGGACGGCTCGTGGTT	0.612000												
BRD7	29117	broad.mit.edu	37	16	50357600	50357600	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50357600C>T	uc002egf.1	-	13	1408	c.1341G>A	c.(1339-1341)GAG>GAA	p.E447E	BRD7_uc002ege.1_Silent_p.E447E	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	447					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TGGCCAAAAACTCATGGATGC	0.458000												
CYLD	1540	broad.mit.edu	37	16	50813911	50813911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50813911G>A	uc002egp.1	+	9	1889	c.1474G>A	c.(1474-1476)GGT>AGT	p.G492S	CYLD_uc002ego.2_Missense_Mutation_p.G489S|CYLD_uc010cbs.1_Missense_Mutation_p.G489S|CYLD_uc002egq.1_Missense_Mutation_p.G489S|CYLD_uc002egr.1_Missense_Mutation_p.G489S|CYLD_uc002egs.1_Missense_Mutation_p.G489S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	492	CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				CCGTTGGATCGGTCAGCCACC	0.473000			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
RBL2	5934	broad.mit.edu	37	16	53493431	53493431	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53493431G>A	uc002ehi.3	+	9	1366	c.1248G>A	c.(1246-1248)GTG>GTA	p.V416V	RBL2_uc010vgv.1_Silent_p.V342V|RBL2_uc002ehj.2_Silent_p.V126V|RBL2_uc010vgw.1_Silent_p.V200V	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	416					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			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCCCTTGTGTGACTCCAGTTT	0.418000												
RPGRIP1L	23322	broad.mit.edu	37	16	53683005	53683005	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53683005A>T	uc002ehp.2	-	16	2239	c.2175T>A	c.(2173-2175)AAT>AAA	p.N725K	RPGRIP1L_uc002eho.3_Missense_Mutation_p.N725K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N725K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N725K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N725K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	725					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CTGTGCCAAAATTTGGGATGT	0.363000												
SLC12A3	6559	broad.mit.edu	37	16	56912999	56912999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:56912999C>T	uc010ccm.2	+	10	1224	c.1195C>T	c.(1195-1197)CGT>TGT	p.R399C	SLC12A3_uc002ekd.3_Missense_Mutation_p.R399C|SLC12A3_uc010ccn.2_Missense_Mutation_p.R398C	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	399			R -> C (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGCGTGGTGCGTGATGCCTC	0.637000												
NLRC5	84166	broad.mit.edu	37	16	57110758	57110758	+	Silent	SNP	C	C	T	rs113401504	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57110758C>T	uc002ekk.1	+	40	5004	c.4779C>T	c.(4777-4779)GTC>GTT	p.V1593V	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.V135V|NLRC5_uc002ekr.1_Silent_p.V480V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1593	LRR 19.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TCGGTGATGTCGGTTGCTGCC	0.532000												
POLR2C	5432	broad.mit.edu	37	16	57503194	57503194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57503194C>T	uc002elt.1	+	5	462	c.376C>T	c.(376-378)CGG>TGG	p.R126W	POLR2C_uc010vhq.1_Missense_Mutation_p.R126W	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	126					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						CAACAGCCCCCGGGTCATTCC	0.582000												
CNGB1	1258	broad.mit.edu	37	16	57996884	57996884	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:57996884C>T	uc002emt.2	-	5	440	c.375G>A	c.(373-375)CCG>CCA	p.P125P	CNGB1_uc010cdh.2_Silent_p.P125P|CNGB1_uc002emu.2_Silent_p.P125P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	125					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GTACCTGAGCCGGGTCCTCCG	0.647000												
MMP15	4324	broad.mit.edu	37	16	58075662	58075662	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:58075662G>C	uc002ena.2	+	6	2025	c.1052G>C	c.(1051-1053)GGC>GCC	p.G351A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	351	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						CCAAAGCCGGGCCCCCCAGTC	0.726000												
PRSS54	221191	broad.mit.edu	37	16	58314324	58314324	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:58314324T>C	uc002enf.2	-	7	1387	c.992A>G	c.(991-993)GAT>GGT	p.D331G	PRSS54_uc002eng.2_Missense_Mutation_p.D331G|PRSS54_uc010vie.1_Missense_Mutation_p.D232G|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	331					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ATCTAGACTATCTCTAGAGCT	0.473000												
SLC12A4	6560	broad.mit.edu	37	16	67980239	67980239	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:67980239G>T	uc002euz.2	-	19	2583	c.2442C>A	c.(2440-2442)ACC>ACA	p.T814T	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.T808T|SLC12A4_uc010vkh.1_Silent_p.T783T|SLC12A4_uc010vki.1_Silent_p.T814T|SLC12A4_uc010vkj.1_Silent_p.T816T|SLC12A4_uc002eva.2_Silent_p.T814T|SLC12A4_uc010cev.1_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	814					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGCGCACGGTGTCTGGGG	0.667000												
WWP2	11060	broad.mit.edu	37	16	69963383	69963383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:69963383G>A	uc002exu.1	+	13	1356	c.1267G>A	c.(1267-1269)GTG>ATG	p.V423M	WWP2_uc002exv.1_Missense_Mutation_p.V423M|WWP2_uc010vlm.1_Missense_Mutation_p.V307M|WWP2_uc010vln.1_Missense_Mutation_p.V41M|WWP2_uc002exw.1_Translation_Start_Site	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	423	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						GGTGTATTACGTGAACCATAA	0.572000											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZFHX3	463	broad.mit.edu	37	16	72822729	72822729	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72822729G>A	uc002fck.2	-	10	10119	c.9446C>T	c.(9445-9447)CCG>CTG	p.P3149L	ZFHX3_uc002fcl.2_Missense_Mutation_p.P2235L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3149					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)				CATCAAGTTCGGCTTAGGAGA	0.547000												
CHST6	4166	broad.mit.edu	37	16	75512632	75512632	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:75512632G>A	uc002fef.2	-	3	1275	c.1095C>T	c.(1093-1095)GAC>GAT	p.D365D	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.D365D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	365	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGCGCTGCTCGTCCTCAGAGT	0.652000												
CDYL2	124359	broad.mit.edu	37	16	80667008	80667008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:80667008G>A	uc002ffs.2	-	3	847	c.742C>T	c.(742-744)CGG>TGG	p.R248W		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	248						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TCTCGAAACCGACAGTTGCTT	0.527000												
CDYL2	124359	broad.mit.edu	37	16	80718567	80718567	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:80718567C>T	uc002ffs.2	-	2	589	c.484G>A	c.(484-486)GGC>AGC	p.G162S		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	162						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						TTCTCAGAGCCGGCGTCCCCA	0.507000												
PKD1L2	114780	broad.mit.edu	37	16	81167282	81167282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:81167282G>A	uc002fgh.1	-	35	5743	c.5743C>T	c.(5743-5745)CGA>TGA	p.R1915*	PKD1L2_uc002fgf.1_Translation_Start_Site|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1915	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTGTTTCTTCGTGCTCGGAAC	0.562000												
PLCG2	5336	broad.mit.edu	37	16	81929428	81929428	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:81929428G>A	uc002fgt.2	+	13	1241	c.1089G>A	c.(1087-1089)GGG>GGA	p.G363G	PLCG2_uc010chg.1_Silent_p.G363G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	363	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GCTGGGACGGGCCCGATGGGA	0.597000												
ZFPM1	161882	broad.mit.edu	37	16	88598420	88598420	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:88598420C>T	uc002fkv.2	+	7	756	c.723C>T	c.(721-723)TTC>TTT	p.F241F		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	241	C2HC-type 1.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAGACGTCTTCCCCTGCAAGG	0.706000												
ZFPM1	161882	broad.mit.edu	37	16	88599306	88599306	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:88599306G>A	uc002fkv.2	+	9	1185	c.1152G>A	c.(1150-1152)TCG>TCA	p.S384S		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	384					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGATCTACTCGCCAGGGGCCG	0.642000												
ZNF778	197320	broad.mit.edu	37	16	89294007	89294007	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89294007T>C	uc002fmv.2	+	6	1566	c.1227T>C	c.(1225-1227)ACT>ACC	p.T409T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T367T|ZNF778_uc010vpg.1_Silent_p.T172T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	409	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GTGGCCTTACTAGACACGTAC	0.493000												
TUBB3	10381	broad.mit.edu	37	16	89985930	89985930	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89985930C>T	uc002fpf.2	+	1	672	c.264C>T	c.(262-264)AGC>AGT	p.S88S	MC1R_uc002fpe.3_Silent_p.S88S|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGCTGGTGAGCGGGAGCAACG	0.642000												
RPH3AL	9501	broad.mit.edu	37	17	171135	171135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:171135G>A	uc002frd.1	-	2	193	c.149C>T	c.(148-150)GCG>GTG	p.A50V	RPH3AL_uc010vpy.1_Missense_Mutation_p.A50V|RPH3AL_uc002fre.1_Missense_Mutation_p.A50V|RPH3AL_uc002frf.1_Missense_Mutation_p.A50V|RPH3AL_uc010cjl.1_Missense_Mutation_p.A50V	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	50	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCCACCTCCGCCGGGCTGAG	0.677000												
RNMTL1	55178	broad.mit.edu	37	17	695114	695114	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:695114C>A	uc002frw.2	+	4	1174	c.1068C>A	c.(1066-1068)GGC>GGA	p.G356G		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	356		S-adenosyl-L-methionine; via carbonyl oxygen (By similarity).			RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		TGGTGATTGGCGGGGAGACCT	0.607000												
MYO1C	4641	broad.mit.edu	37	17	1387489	1387489	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:1387489C>T	uc002fsp.2	-	2	404	c.184G>A	c.(184-186)GCC>ACC	p.A62T	MYO1C_uc002fsn.2_Missense_Mutation_p.A43T|MYO1C_uc002fso.2_Missense_Mutation_p.A27T|MYO1C_uc010vqj.1_Missense_Mutation_p.A27T|MYO1C_uc010vqk.1_Missense_Mutation_p.A38T	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	62	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)		TCGATGAAGGCGGCCTCGCTG	0.632000												
WDR81	124997	broad.mit.edu	37	17	1636825	1636825	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:1636825C>T	uc002fti.2	+	7	1074	c.813C>T	c.(811-813)GAC>GAT	p.D271D	WDR81_uc002fth.2_Silent_p.D447D|WDR81_uc010vqp.1_Silent_p.D295D|WDR81_uc002ftj.2_Silent_p.D1498D|WDR81_uc010vqq.1_Silent_p.D129D	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	271										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCCAGGTGACATCATCCGGA	0.612000												
SGSM2	9905	broad.mit.edu	37	17	2266394	2266394	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2266394G>A	uc002fun.3	+	6	813	c.638G>A	c.(637-639)CGC>CAC	p.R213H	SGSM2_uc002fum.3_Missense_Mutation_p.R213H|SGSM2_uc010vqw.1_Missense_Mutation_p.R213H	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	213						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCACCTACTCGCCAGGACTCC	0.637000												
KIAA0664	23277	broad.mit.edu	37	17	2601720	2601720	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2601720G>A	uc002fuy.1	-	10	1403	c.1317C>T	c.(1315-1317)TTC>TTT	p.F439F	KIAA0664_uc002fux.1_Silent_p.F371F	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	439							binding			breast(2)	2						CGTCCCCCCCGAAGTCCTTGT	0.622000												
ZZEF1	23140	broad.mit.edu	37	17	3967836	3967836	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:3967836C>T	uc002fxe.2	-	29	4601	c.4537G>A	c.(4537-4539)GCT>ACT	p.A1513T	ZZEF1_uc002fxh.2_5'Flank|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.A126T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1513							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GGCTCTTCAGCTGTGGCAGGG	0.662000												
MYBBP1A	10514	broad.mit.edu	37	17	4457505	4457505	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4457505C>T	uc002fyb.3	-	3	425	c.363G>A	c.(361-363)CTG>CTA	p.L121L	MYBBP1A_uc002fxz.3_Silent_p.L121L	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	121	Interaction with MYB (By similarity).				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						TCACCTGATGCAGGTCATATT	0.582000												
VMO1	284013	broad.mit.edu	37	17	4688833	4688833	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4688833G>A	uc002fyx.2	-	3	515	c.433C>T	c.(433-435)CGC>TGC	p.R145C	VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	145					vitelline membrane formation	extracellular region				ovary(1)	1						TCTGAACAGCGGAAGCGCACG	0.657000												
PLD2	5338	broad.mit.edu	37	17	4718006	4718006	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4718006G>A	uc002fzc.2	+	12	1274	c.1173G>A	c.(1171-1173)GCG>GCA	p.A391A	PLD2_uc010vsj.1_Silent_p.A248A|PLD2_uc002fzd.2_Silent_p.A391A	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	391					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)	AGAGGAAGGCGGTGAGGAGAG	0.572000												
USP6	9098	broad.mit.edu	37	17	5036240	5036240	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:5036240G>C	uc002gau.1	+	13	2461	c.231G>C	c.(229-231)TGG>TGC	p.W77C	USP6_uc002gav.1_Missense_Mutation_p.W77C|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.W138C|uc002gay.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	77					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						CGAGCAAGTGGATGGAAATGC	0.532000			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
ZNF594	84622	broad.mit.edu	37	17	5087271	5087271	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:5087271G>A	uc010cla.1	-	2	437	c.281C>T	c.(280-282)GCA>GTA	p.A94V		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						GCTTTCTCCTGCAGAAAGTAT	0.393000												
PITPNM3	83394	broad.mit.edu	37	17	6371625	6371625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6371625C>T	uc002gdd.3	-	14	1961	c.1810G>A	c.(1810-1812)GCC>ACC	p.A604T	PITPNM3_uc010cln.2_Missense_Mutation_p.A568T|PITPNM3_uc010clm.2_Missense_Mutation_p.A87T|PITPNM3_uc002gdc.3_Missense_Mutation_p.A195T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	604					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)		TCCAGGCGGGCGCTTTCCTTG	0.617000												
PHF23	79142	broad.mit.edu	37	17	7139475	7139475	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7139475T>C	uc002gfa.2	-	4	998	c.771A>G	c.(769-771)GAA>GAG	p.E257E	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Silent_p.E190E|PHF23_uc010cma.2_Silent_p.E127E	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	257	Poly-Glu.						zinc ion binding				0						cttcttcttcttcctcttcct	0.512000												
SENP3	26168	broad.mit.edu	37	17	7466636	7466636	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7466636G>A	uc002ghm.2	+	2	516	c.243G>A	c.(241-243)GAG>GAA	p.E81E	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	81	Glu-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				aggaagaagaggaggaggagg	0.493000												
ATP1B2	482	broad.mit.edu	37	17	7559161	7559161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7559161G>A	uc002gif.1	+	7	1404	c.821G>A	c.(820-822)CGA>CAA	p.R274Q		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	274	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GACGATGAGCGAGACAAGTTC	0.582000												
WRAP53	55135	broad.mit.edu	37	17	7606723	7606723	+	Silent	SNP	G	G	C	rs148329158	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7606723G>C	uc010vuh.1	+	11	1721	c.1566G>C	c.(1564-1566)GCG>GCC	p.A522A	WRAP53_uc010vui.1_Silent_p.A522A|WRAP53_uc002gip.2_Silent_p.A522A|WRAP53_uc002gir.2_Silent_p.A522A|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.A489A|EFNB3_uc002gis.2_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	522					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0						GTGGGGGGGCGCCAGACTCCA	0.582000												
TRAPPC1	58485	broad.mit.edu	37	17	7834015	7834015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7834015G>A	uc002gjo.1	-	4	463	c.347C>T	c.(346-348)CCG>CTG	p.P116L	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	116					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				TTGGCCCAGCGGGCACAGGGG	0.542000												
ALOXE3	59344	broad.mit.edu	37	17	8013440	8013440	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8013440G>T	uc010cnr.2	-	10	1645	c.1275C>A	c.(1273-1275)CGC>CGA	p.R425R	ALOXE3_uc002gka.2_Silent_p.R581R|ALOXE3_uc010vuo.1_Silent_p.R557R|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	425	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						GCGGCAGCTGGCGCAGCGTGG	0.677000											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GAS7	8522	broad.mit.edu	37	17	10101644	10101644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10101644G>A	uc002gmg.1	-	1	225	c.64C>T	c.(64-66)CGC>TGC	p.R22C		NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	22	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GCGGCGAAGCGCAGCCCCTGG	0.731000			T	MLL	AML*							
MYH2	4620	broad.mit.edu	37	17	10441138	10441138	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10441138C>A	uc010coi.2	-	15	1559	c.1431G>T	c.(1429-1431)GAG>GAT	p.E477D	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E477D|MYH2_uc010coj.2_Missense_Mutation_p.E477D	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	477	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(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TGCACAGCTGCTCCAGGCTGT	0.368000												
ZNF18	7566	broad.mit.edu	37	17	11886718	11886718	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:11886718A>G	uc002gng.1	-	8	1363	c.758T>C	c.(757-759)ATT>ACT	p.I253T	ZNF18_uc002gnh.1_Missense_Mutation_p.I253T|ZNF18_uc002gni.1_Missense_Mutation_p.I252T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	253	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GGGATGGGAAATGCCTGCTAT	0.478000												
TEKT3	64518	broad.mit.edu	37	17	15212064	15212064	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:15212064G>A	uc002gon.2	-	8	1360	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	391					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCTTCAGGAAGGCAGTCTTGT	0.527000												
ZNF286A	57335	broad.mit.edu	37	17	15620464	15620464	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:15620464A>G	uc010cot.2	+	6	1822	c.1426A>G	c.(1426-1428)ATT>GTT	p.I476V	ZNF286A_uc002goz.3_Missense_Mutation_p.I364V|ZNF286A_uc010vwa.1_Missense_Mutation_p.I476V|ZNF286A_uc002gpa.2_Missense_Mutation_p.I476V	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	476	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAAAGCCTTCATTCATTCATC	0.403000												
ZNF624	57547	broad.mit.edu	37	17	16526577	16526577	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:16526577T>C	uc010cpi.1	-	6	1706	c.1623A>G	c.(1621-1623)TCA>TCG	p.S541S		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	541	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGTAAGGCATGAATAATTAA	0.373000												
ATPAF2	91647	broad.mit.edu	37	17	17931621	17931621	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:17931621G>A	uc002gse.1	-	3	402	c.249C>T	c.(247-249)AGC>AGT	p.S83S	ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010cps.1_5'Flank|ATPAF2_uc010vxf.1_Silent_p.S83S	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	83					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CCAGGGCCTCGCTGGGGACGG	0.507000												
ALKBH5	54890	broad.mit.edu	37	17	18111551	18111551	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:18111551G>T	uc010cpw.2	+	4	1717	c.1026G>T	c.(1024-1026)ATG>ATT	p.M342I	ALKBH5_uc010cpx.2_RNA	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	342						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					TCCTGGAGATGGACAAGGAAG	0.597000												
TRIM16L	147166	broad.mit.edu	37	17	18635377	18635377	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:18635377G>A	uc002gug.1	+	9	1080	c.393G>A	c.(391-393)GTG>GTA	p.V131V	TRIM16L_uc010vyf.1_Silent_p.V185V|TRIM16L_uc002guh.1_Silent_p.V131V|TRIM16L_uc010cqg.1_Silent_p.V233V|TRIM16L_uc002gui.1_Silent_p.V131V|TRIM16L_uc010vyg.1_Silent_p.V131V|TRIM16L_uc010vyh.1_Intron	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	tripartite motif-containing 16-like	131						cytoplasm					0						GAACTCAAGTGTCTGCCATTG	0.493000												
TNFAIP1	7126	broad.mit.edu	37	17	26666694	26666694	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:26666694C>T	uc002hax.1	+	2	166	c.147C>T	c.(145-147)CAC>CAT	p.H49H	TNFAIP1_uc002hay.2_Silent_p.H49H|TNFAIP1_uc010waf.1_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1	49	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGACCCGCCACGACACCATGC	0.632000												
TLCD1	116238	broad.mit.edu	37	17	27052964	27052964	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27052964G>C	uc002hco.2	-	1	267	c.152C>G	c.(151-153)TCC>TGC	p.S51C	TLCD1_uc010waw.1_Intron|NEK8_uc002hcp.2_5'Flank	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	51	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					GTGAGCGAAGGAGACGAGCAG	0.697000												
TLCD1	116238	broad.mit.edu	37	17	27053070	27053070	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27053070T>C	uc002hco.2	-	1	161	c.46A>G	c.(46-48)ACG>GCG	p.T16A	TLCD1_uc010waw.1_Intron|NEK8_uc002hcp.2_5'Flank	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	16						integral to membrane					0	Lung NSC(42;0.00431)					AAGGTCAGCGTGGCGCCCAGG	0.746000												
MYO18A	399687	broad.mit.edu	37	17	27446421	27446421	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27446421C>T	uc002hdt.1	-	8	1919	c.1761G>A	c.(1759-1761)CGG>CGA	p.R587R	MYO18A_uc010wbc.1_Silent_p.R129R|MYO18A_uc002hds.2_Silent_p.R129R|MYO18A_uc010csa.1_Silent_p.R587R|MYO18A_uc002hdu.1_Silent_p.R587R|MYO18A_uc010wbd.1_Silent_p.R256R	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	587	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)			TGGCTGGGCGCCGAGCCACAC	0.562000												
ZNF207	7756	broad.mit.edu	37	17	30687715	30687715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:30687715C>T	uc002hhh.3	+	4	554	c.406C>T	c.(406-408)CAA>TAA	p.Q136*	ZNF207_uc002hhj.3_Nonsense_Mutation_p.Q136*|ZNF207_uc002hhi.3_Nonsense_Mutation_p.Q136*|ZNF207_uc010csz.2_Nonsense_Mutation_p.Q139*|ZNF207_uc002hhk.1_Nonsense_Mutation_p.Q136*|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	136						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAACCTCAGCAAGGTTATAT	0.448000												
GAS2L2	246176	broad.mit.edu	37	17	34074249	34074249	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:34074249G>T	uc002hjv.1	-	5	899	c.871C>A	c.(871-873)CCA>ACA	p.P291T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	291					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGCACTGGTGGGGCCGGG	0.602000												
GAS2L2	246176	broad.mit.edu	37	17	34079505	34079505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:34079505C>T	uc002hjv.1	-	1	393	c.365G>A	c.(364-366)CGA>CAA	p.R122Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	122	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCTCCTTTCGACACCACTG	0.572000												
PCGF2	7703	broad.mit.edu	37	17	36891730	36891730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36891730C>T	uc002hqp.1	-	11	1024	c.781G>A	c.(781-783)GAC>AAC	p.D261N	CISD3_uc010wds.1_3'UTR|PCGF2_uc002hqn.1_3'UTR|PCGF2_uc002hqo.1_3'UTR|PCGF2_uc010cvo.1_Missense_Mutation_p.D136N|PCGF2_uc002hqq.1_3'UTR	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	261	Pro/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GGAGCCTTGTCGCTGACTGAC	0.701000											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
STARD3	10948	broad.mit.edu	37	17	37809936	37809936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:37809936G>A	uc002hsd.2	+	2	276	c.152G>A	c.(151-153)CGC>CAC	p.R51H	STARD3_uc010weg.1_Missense_Mutation_p.R51H|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.R51H|STARD3_uc010wei.1_Missense_Mutation_p.R51H|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	51	Cytoplasmic (Potential).|MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GATGTCCGCCGCACCTTCTGT	0.632000											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MED24	9862	broad.mit.edu	37	17	38175815	38175815	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38175815G>A	uc002htt.2	-	26	3250	c.2937C>T	c.(2935-2937)CGC>CGT	p.R979R	MED24_uc010weq.1_Silent_p.R101R|MED24_uc002htr.2_Silent_p.R91R|MED24_uc010wer.1_Silent_p.R357R|MED24_uc010wes.1_Silent_p.R839R|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.R1004R|MED24_uc002htu.2_Silent_p.R966R|MED24_uc010cwn.2_Silent_p.R966R|MED24_uc010weu.1_Silent_p.R889R	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	979					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)					CAGCCACCTGGCGGCCCAGGG	0.667000												
MED24	9862	broad.mit.edu	37	17	38176148	38176148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38176148G>A	uc002htt.2	-	25	3056	c.2743C>T	c.(2743-2745)CGC>TGC	p.R915C	MED24_uc010weq.1_Missense_Mutation_p.R37C|MED24_uc002htr.2_Missense_Mutation_p.R27C|MED24_uc010wer.1_Missense_Mutation_p.R293C|MED24_uc010wes.1_Missense_Mutation_p.R775C|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.R940C|MED24_uc002htu.2_Missense_Mutation_p.R902C|MED24_uc010cwn.2_Missense_Mutation_p.R902C|MED24_uc010weu.1_Missense_Mutation_p.R825C	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	915					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)					CCAGCGGTGCGAGACCCCAGG	0.622000												
KRT27	342574	broad.mit.edu	37	17	38936017	38936017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38936017G>A	uc002hvg.2	-	4	822	c.781C>T	c.(781-783)CGA>TGA	p.R261*		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	261	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TACTCAGCTCGCATATTGTTC	0.607000												
KRT39	390792	broad.mit.edu	37	17	39115014	39115014	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:39115014A>C	uc002hvo.1	-	7	1351	c.1315T>G	c.(1315-1317)TCA>GCA	p.S439A	KRT39_uc010wfm.1_Missense_Mutation_p.S172A	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	439	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				CAGGGGGATGAGGATGTGCAA	0.547000												
KRT16	3868	broad.mit.edu	37	17	39767948	39767948	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:39767948G>A	uc002hxg.3	-	2	696	c.557C>T	c.(556-558)GCG>GTG	p.A186V	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	186	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				AATGGGCTGCGCATTCTCAAT	0.582000												
DHX8	1659	broad.mit.edu	37	17	41577385	41577385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:41577385G>A	uc002idu.1	+	11	1533	c.1460G>A	c.(1459-1461)CGG>CAG	p.R487Q	DHX8_uc010wif.1_Missense_Mutation_p.R396Q|DHX8_uc010wig.1_Missense_Mutation_p.R487Q	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	487						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAAGAAAGGCGGGAACTCAAA	0.517000												
GRN	2896	broad.mit.edu	37	17	42430031	42430031	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:42430031C>T	uc002igp.1	+	13	1866	c.1647C>T	c.(1645-1647)GGC>GGT	p.G549G	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	549					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)		CCATCCAGGGCGTCTGTTGTG	0.687000												
CRHR1	1394	broad.mit.edu	37	17	43911993	43911993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:43911993C>T	uc010dap.2	+	14	1463	c.1198C>T	c.(1198-1200)CGT>TGT	p.R400C	CRHR1_uc010wjx.1_Missense_Mutation_p.R196C|CRHR1_uc002ijp.2_Silent_p.S224S|CRHR1_uc002ijm.2_Missense_Mutation_p.R371C|CRHR1_uc002ijn.2_Missense_Mutation_p.R331C|CRHR1_uc010dar.2_Missense_Mutation_p.R357C|CRHR1_uc010dao.2_Missense_Mutation_p.R270C|CRHR1_uc010daq.2_Missense_Mutation_p.R196C	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	400	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCACAGGTCCGTTCTGCCAT	0.672000												
MAPT	4137	broad.mit.edu	37	17	44073996	44073996	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:44073996C>A	uc002ijr.3	+	10	2059	c.1739C>A	c.(1738-1740)ACT>AAT	p.T580N	MAPT_uc010dau.2_Missense_Mutation_p.T598N|MAPT_uc002ijs.3_Missense_Mutation_p.T263N|MAPT_uc002ijx.3_Missense_Mutation_p.T234N|MAPT_uc002ijt.3_Missense_Mutation_p.T205N|MAPT_uc002iju.3_Missense_Mutation_p.T205N|MAPT_uc002ijv.3_Missense_Mutation_p.T212N|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	580	Tau/MAP 1.				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)				ATCGGCTCCACTGAGAACCTG	0.662000												
ITGB3	3690	broad.mit.edu	37	17	45369787	45369787	+	Missense_Mutation	SNP	C	C	T	rs150138754		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:45369787C>T	uc002ilj.2	+	10	1563	c.1543C>T	c.(1543-1545)CGG>TGG	p.R515W	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	515	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	ATGCAGCCCCCGGGAGGGTCA	0.627000												
HOXB1	3211	broad.mit.edu	37	17	46608130	46608130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:46608130C>T	uc002ink.1	-	1	143	c.137G>A	c.(136-138)GGC>GAC	p.G46D		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	46						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACCGTAGCGGCCCTCGCTTGC	0.687000												
COL1A1	1277	broad.mit.edu	37	17	48275526	48275526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:48275526G>A	uc002iqm.2	-	7	710	c.584C>T	c.(583-585)GCA>GTA	p.A195V		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	195	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	ACTCACAGGTGCACCAGGGGG	0.557000			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPATA20	64847	broad.mit.edu	37	17	48632978	48632978	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:48632978G>A	uc002irf.2	+	16	2457	c.2316G>A	c.(2314-2316)GTG>GTA	p.V772V	SPATA20_uc002irc.2_Silent_p.V439V|SPATA20_uc002ire.2_Silent_p.V728V|SPATA20_uc002ird.2_Silent_p.V788V|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	772					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGCTCAGTGCCCATCACTG	0.562000												
SEPT4	5414	broad.mit.edu	37	17	56604333	56604333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56604333G>A	uc002iwm.1	-	2	195	c.67C>T	c.(67-69)CGT>TGT	p.R23C	SEPT4_uc002iwk.1_5'UTR|SEPT4_uc010wnw.1_5'UTR|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Missense_Mutation_p.R4C|SEPT4_uc002iwp.1_Missense_Mutation_p.R4C|SEPT4_uc010wnx.1_Missense_Mutation_p.R38C|SEPT4_uc010wny.1_Missense_Mutation_p.R15C|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1	23					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGGAAACGCTTGATCTGG	0.413000												
TMEM49	81671	broad.mit.edu	37	17	57808851	57808851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:57808851T>C	uc002ixu.3	+	2	317	c.44T>C	c.(43-45)ATG>ACG	p.M15T	TMEM49_uc010wog.1_5'UTR|TMEM49_uc010woh.1_Missense_Mutation_p.M15T|TMEM49_uc010woi.1_5'UTR|TMEM49_uc010woj.1_5'UTR	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	15	Cytoplasmic (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)			CGTGTAGCAATGAACAAGGAA	0.348000												
TUBD1	51174	broad.mit.edu	37	17	57944024	57944024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:57944024A>G	uc002ixw.1	-	7	1299	c.1021T>C	c.(1021-1023)TCC>CCC	p.S341P	TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.S306P|TUBD1_uc010ddh.1_Missense_Mutation_p.S167P|TUBD1_uc010wok.1_Missense_Mutation_p.S341P|TUBD1_uc002ixx.1_Missense_Mutation_p.S286P|TUBD1_uc010wol.1_Missense_Mutation_p.S125P|TUBD1_uc010ddi.1_Missense_Mutation_p.S87P	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	341					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)			TTAGCAATGGAAGTGTTAAAA	0.383000												
MRC2	9902	broad.mit.edu	37	17	60767425	60767425	+	Splice_Site	SNP	T	T	C	rs112230969		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:60767425T>C	uc002jad.2	+	25	4144	c.3742_splice	c.e25+2	p.G1248_splice	MRC2_uc002jae.2_Splice_Site_p.G319_splice|MRC2_uc002jaf.2_Splice_Site_p.G114_splice	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTAGCAGTGGTGAGTGCCCAC	0.677000												
MARCH10	162333	broad.mit.edu	37	17	60813653	60813653	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:60813653C>T	uc010ddr.2	-	6	1814	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K	MARCH10_uc002jag.3_Missense_Mutation_p.E526K|MARCH10_uc010dds.2_Missense_Mutation_p.E564K|MARCH10_uc002jah.2_Missense_Mutation_p.E525K|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	526							ligase activity|zinc ion binding				0						TTATGGTTTTCGGCACTGGCA	0.458000												
ACE	1636	broad.mit.edu	37	17	61570796	61570796	+	Splice_Site	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61570796G>A	uc002jau.1	+	20	2935	c.2913_splice	c.e20-1	p.R971_splice	ACE_uc002jav.1_Splice_Site_p.R397_splice|ACE_uc010ddv.1_Splice_Site_p.R198_splice|ACE_uc010wpj.1_Splice_Site_p.R397_splice|ACE_uc002jaw.1_Splice_Site|ACE_uc010wpk.1_Splice_Site_p.R217_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1						arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTATTCCTAGGATCAAGCAG	0.562000												
SMARCD2	6603	broad.mit.edu	37	17	61912828	61912828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61912828C>T	uc010deb.1	-	5	984	c.667G>A	c.(667-669)GCA>ACA	p.A223T	SMARCD2_uc010wpt.1_Missense_Mutation_p.A175T|SMARCD2_uc010dea.1_Missense_Mutation_p.A148T|SMARCD2_uc010dec.1_Missense_Mutation_p.A202T	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	223					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						TTGTCCCCTGCTGGGGTTCCC	0.577000												
TEX2	55852	broad.mit.edu	37	17	62291159	62291159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:62291159G>A	uc002jec.2	-	2	592	c.419C>T	c.(418-420)TCG>TTG	p.S140L	TEX2_uc002jed.2_Missense_Mutation_p.S140L|TEX2_uc002jee.2_Missense_Mutation_p.S140L	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	140	Poly-Ser.				signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGCCCCGACGAAGACGACCC	0.532000												
AXIN2	8313	broad.mit.edu	37	17	63545650	63545650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:63545650G>A	uc002jfi.2	-	3	1233	c.944C>T	c.(943-945)ACG>ATG	p.T315M	AXIN2_uc010den.1_Missense_Mutation_p.T315M|AXIN2_uc002jfh.2_Missense_Mutation_p.T315M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	315					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|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|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						ACTGCTGTCCGTCATGGACAT	0.547000									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
CACNG5	27091	broad.mit.edu	37	17	64880684	64880684	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:64880684A>C	uc010wqi.1	+	5	713	c.476A>C	c.(475-477)GAG>GCG	p.E159A	CACNG5_uc002jfr.2_Missense_Mutation_p.E159A|CACNG5_uc010wqj.1_Missense_Mutation_p.E159A	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	159					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATCAACGATGAGATGCTCAAC	0.562000												
NOL11	25926	broad.mit.edu	37	17	65720242	65720242	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:65720242C>T	uc002jgd.1	+	6	600	c.597C>T	c.(595-597)GAC>GAT	p.D199D	NOL11_uc010wql.1_Silent_p.D17D|NOL11_uc010deu.1_Translation_Start_Site	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	199						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGGACAAGACGAAAACTCTG	0.303000												
CD300C	10871	broad.mit.edu	37	17	72540750	72540750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:72540750G>A	uc002jky.1	-	2	759	c.398C>T	c.(397-399)CCG>CTG	p.P133L		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	133	Pro-rich.|Extracellular (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						GGGCTCACCCGGGAACACGGA	0.592000												
GGA3	23163	broad.mit.edu	37	17	73235069	73235069	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73235069C>G	uc002jni.1	-	15	1885	c.1876G>C	c.(1876-1878)GTG>CTG	p.V626L	GGA3_uc002jnj.1_Missense_Mutation_p.V593L|GGA3_uc010wrw.1_Missense_Mutation_p.V504L|GGA3_uc002jnk.1_Missense_Mutation_p.V554L|GGA3_uc010wrx.1_Missense_Mutation_p.V504L|GGA3_uc010wry.1_Missense_Mutation_p.V554L	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	626	Poly-Val.|GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACCACCACCACCAGCACGTCA	0.582000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GGA3	23163	broad.mit.edu	37	17	73236985	73236985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73236985C>T	uc002jni.1	-	11	1109	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	GGA3_uc002jnj.1_Missense_Mutation_p.R334Q|GGA3_uc010wrw.1_Missense_Mutation_p.R245Q|GGA3_uc002jnk.1_Missense_Mutation_p.R295Q|GGA3_uc010wrx.1_Missense_Mutation_p.R245Q|GGA3_uc010wry.1_Missense_Mutation_p.R295Q	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	367	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGAGCGGCTCCGTGGAGGTCC	0.667000											OREG0024730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA0195	9772	broad.mit.edu	37	17	73495057	73495057	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73495057G>A	uc002jnz.3	+	31	4167	c.3892G>A	c.(3892-3894)GTC>ATC	p.V1298I	KIAA0195_uc010wsa.1_Missense_Mutation_p.V1308I|KIAA0195_uc010wsb.1_Missense_Mutation_p.V938I|KIAA0195_uc002job.3_Missense_Mutation_p.V336I	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1298					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	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)			GGACAGCCACGTCCACTTTGG	0.632000												
LLGL2	3993	broad.mit.edu	37	17	73564738	73564738	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73564738C>A	uc002joh.2	+	11	1372	c.1218C>A	c.(1216-1218)GCC>GCA	p.A406A	LLGL2_uc002joi.2_Silent_p.A406A|LLGL2_uc010dgg.1_Silent_p.A406A|LLGL2_uc002joj.2_Silent_p.A395A|LLGL2_uc010wsd.1_Silent_p.A33A	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	406	WD 8.				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)			GGATCATTGCCGCCGGCAGCC	0.637000												
FBF1	85302	broad.mit.edu	37	17	73922166	73922166	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:73922166C>T	uc002jqc.2	-	11	1045	c.771G>A	c.(769-771)CCG>CCA	p.P257P	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.P247P|FBF1_uc002jqd.1_Silent_p.P257P	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	257											0						CCCCGGTGCCCGGGCGGGCCA	0.677000												
EXOC7	23265	broad.mit.edu	37	17	74084972	74084972	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74084972C>A	uc002jqs.2	-	10	1328	c.1233G>T	c.(1231-1233)GAG>GAT	p.E411D	EXOC7_uc010dgv.1_Missense_Mutation_p.E307D|EXOC7_uc002jqq.2_Missense_Mutation_p.E360D|EXOC7_uc010wsw.1_Missense_Mutation_p.E383D|EXOC7_uc010wsx.1_Missense_Mutation_p.E352D|EXOC7_uc002jqr.2_Missense_Mutation_p.E329D|EXOC7_uc010wsv.1_Missense_Mutation_p.E319D	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	411					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			ACACGATGTTCTCCCCTTCAA	0.622000												
FOXJ1	2302	broad.mit.edu	37	17	74134113	74134113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74134113C>T	uc002jqw.2	-	2	677	c.587G>A	c.(586-588)CGC>CAC	p.R196H	FOXJ1_uc002jqx.2_Missense_Mutation_p.R196H|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	196	Fork-head.				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGTCAATGCGCCAGAAGCC	0.627000												
MGAT5B	146664	broad.mit.edu	37	17	74902116	74902116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74902116G>A	uc002jti.2	+	7	1008	c.905G>A	c.(904-906)GGC>GAC	p.G302D	MGAT5B_uc002jth.2_Missense_Mutation_p.G291D	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	291	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						GTCCACATCGGCTTCCTGACG	0.682000												
MGAT5B	146664	broad.mit.edu	37	17	74942514	74942514	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:74942514C>T	uc002jti.2	+	14	2035	c.1932C>T	c.(1930-1932)CAC>CAT	p.H644H	MGAT5B_uc002jth.2_Silent_p.H633H|MGAT5B_uc002jtj.2_Silent_p.H40H	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	635	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGCGGATCCACGCCTACATCC	0.642000												
TMC6	11322	broad.mit.edu	37	17	76117721	76117721	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76117721C>T	uc002juj.1	-	10	1425	c.1299G>A	c.(1297-1299)GTG>GTA	p.V433V	TMC6_uc002jui.1_Silent_p.V72V|TMC6_uc010dhf.1_Silent_p.V266V|TMC6_uc002juk.2_Silent_p.V433V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.V433V|TMC6_uc002jum.3_Silent_p.V224V|TMC6_uc002jun.3_Silent_p.V433V|TMC6_uc002juo.2_Silent_p.V206V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	433	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAAGCCCCAGCACAGCCGCCT	0.721000									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
USP36	57602	broad.mit.edu	37	17	76825015	76825015	+	Missense_Mutation	SNP	C	C	T	rs139783752	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76825015C>T	uc002jvz.1	-	5	875	c.550G>A	c.(550-552)GCC>ACC	p.A184T	USP36_uc002jwa.1_Missense_Mutation_p.A184T|USP36_uc002jwd.1_Missense_Mutation_p.A184T	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	184					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGCTTGATGGCGTTGCCGCTG	0.438000												
RNF213	57674	broad.mit.edu	37	17	78320825	78320825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:78320825G>A	uc002jyh.1	+	4	3132	c.2909G>A	c.(2908-2910)GGC>GAC	p.G970D		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)			ATGAACCGGGGCATTTTTGTG	0.592000												
RNF213	57674	broad.mit.edu	37	17	78346918	78346918	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:78346918G>A	uc002jyh.1	+	24	7337	c.7114G>A	c.(7114-7116)GGC>AGC	p.G2372S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G754S	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)			CTCCAAGCCCGGCCGCCCGCA	0.582000												
RAB40B	10966	broad.mit.edu	37	17	80616484	80616484	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:80616484C>T	uc002kft.2	-	5	574	c.448G>A	c.(448-450)GTG>ATG	p.V150M	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	150					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)			AAGAAGGTCACGCCCAGGCGC	0.652000												
TBCD	6904	broad.mit.edu	37	17	80885144	80885144	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:80885144C>A	uc002kfz.2	+	29	2684	c.2554C>A	c.(2554-2556)CTG>ATG	p.L852M	TBCD_uc002kfy.1_Missense_Mutation_p.L852M|TBCD_uc002kgb.1_Missense_Mutation_p.L177M|TBCD_uc002kgc.2_Translation_Start_Site|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	852					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTACTGTGCGCTGCTGGGCTG	0.542000												
TMEM200C	645369	broad.mit.edu	37	18	5891837	5891837	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:5891837G>T	uc002kmx.1	-	1	267	c.226C>A	c.(226-228)CCC>ACC	p.P76T		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	76						integral to membrane					0						GTGGCCTTGGGCCAGTAGCCC	0.662000												
LAMA1	284217	broad.mit.edu	37	18	7037643	7037643	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:7037643G>A	uc002knm.2	-	12	1765	c.1671C>T	c.(1669-1671)ACC>ACT	p.T557T	LAMA1_uc010wzj.1_Silent_p.T33T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	557	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCATGACCGCGGTGTTGTTGA	0.587000												
RNMT	8731	broad.mit.edu	37	18	13731813	13731813	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:13731813A>C	uc002ksk.1	+	2	364	c.297A>C	c.(295-297)GAA>GAC	p.E99D	RNMT_uc002ksl.1_Missense_Mutation_p.E99D|RNMT_uc002ksm.1_Missense_Mutation_p.E99D|RNMT_uc010dlk.2_Missense_Mutation_p.E99D|RNMT_uc010xae.1_Intron	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	99					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GTGATGCTGAAGGCAATTCAA	0.373000												
ZNF519	162655	broad.mit.edu	37	18	14105975	14105975	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:14105975T>C	uc002kst.1	-	3	717	c.564A>G	c.(562-564)AAA>AAG	p.K188K	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	188	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTAAAATACTTTTTCACATT	0.274000												
CTAGE1	64693	broad.mit.edu	37	18	19995559	19995559	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:19995559A>G	uc002ktv.1	-	1	2320	c.2216T>C	c.(2215-2217)TTC>TCC	p.F739S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	739	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTGGGGGGAAAAATGCAGG	0.502000												
IMPACT	55364	broad.mit.edu	37	18	22008870	22008870	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:22008870C>A	uc002kvh.3	+	3	315	c.203C>A	c.(202-204)CCT>CAT	p.P68H	IMPACT_uc002kvg.3_Missense_Mutation_p.P50H	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	68	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ACAGCTCCACCTATCTACCAG	0.338000												
ZNF521	25925	broad.mit.edu	37	18	22804319	22804319	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:22804319T>C	uc002kvk.2	-	4	3810	c.3563A>G	c.(3562-3564)CAG>CGG	p.Q1188R	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Q1188R|ZNF521_uc002kvl.2_Missense_Mutation_p.Q968R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1188					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)					CTCATCCGACTGGGAGGGACT	0.463000			T	PAX5	ALL							
KLHL14	57565	broad.mit.edu	37	18	30257165	30257165	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:30257165A>G	uc002kxm.1	-	8	2105	c.1717T>C	c.(1717-1719)TAC>CAC	p.Y573H	KLHL14_uc010dmd.1_Missense_Mutation_p.Y122H	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	573	Kelch 6.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCCACAAGGTAAATGCTGTCA	0.463000												
SLC39A6	25800	broad.mit.edu	37	18	33694127	33694127	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:33694127G>A	uc010dmy.2	-	7	2066	c.1776C>T	c.(1774-1776)GTC>GTT	p.V592V	SLC39A6_uc002kzj.2_Silent_p.V317V	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	592	Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						CCAGAGTGGCGACGCCGGCAT	0.318000												
FHOD3	80206	broad.mit.edu	37	18	34349297	34349297	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:34349297T>A	uc002kzt.1	+	23	4191	c.4094T>A	c.(4093-4095)ATC>AAC	p.I1365N	FHOD3_uc002kzs.1_Missense_Mutation_p.I1382N|FHOD3_uc010dmz.1_Missense_Mutation_p.I1097N|FHOD3_uc010dnb.1_Missense_Mutation_p.S303T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1365	DAD.				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)				GCTGATGAGATCATGGACCGC	0.527000												
PIK3C3	5289	broad.mit.edu	37	18	39637886	39637886	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:39637886G>A	uc002lap.2	+	22	2361	c.2303G>A	c.(2302-2304)CGG>CAG	p.R768Q	PIK3C3_uc010xcl.1_Missense_Mutation_p.R705Q|PIK3C3_uc002laq.2_Missense_Mutation_p.R253Q	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	768	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						ATTTTGGGTCGGGATCCAAAG	0.428000										TSP Lung(28;0.18)		
SLC14A2	8170	broad.mit.edu	37	18	43207012	43207012	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:43207012A>G	uc010dnj.2	+	5	742	c.421A>G	c.(421-423)ATC>GTC	p.I141V	SLC14A2_uc002lbb.2_Missense_Mutation_p.I141V|SLC14A2_uc002lbe.2_Missense_Mutation_p.I141V	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	141						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CGGCCTCATCATCTTCATAGG	0.557000												
CCDC11	220136	broad.mit.edu	37	18	47777861	47777861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:47777861G>A	uc002lee.2	-	4	858	c.767C>T	c.(766-768)GCA>GTA	p.A256V		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	256	Potential.									ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CACAAGGCGTGCCTCCTCTTC	0.532000												
NEDD4L	23327	broad.mit.edu	37	18	56008369	56008369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:56008369C>T	uc002lgy.2	+	14	1499	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	NEDD4L_uc002lgz.2_Intron|NEDD4L_uc002lgx.2_Nonsense_Mutation_p.R389*|NEDD4L_uc010xee.1_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhc.2_Nonsense_Mutation_p.R401*|NEDD4L_uc002lhd.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhb.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhe.2_Nonsense_Mutation_p.R381*|NEDD4L_uc002lhf.2_Nonsense_Mutation_p.R268*|NEDD4L_uc002lhg.2_Nonsense_Mutation_p.R288*|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	409	WW 2.				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						TCATAACAATCGAACCACAAC	0.488000												
CDH20	28316	broad.mit.edu	37	18	59158026	59158026	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:59158026C>T	uc010dps.1	+	1	252	c.240C>T	c.(238-240)GTC>GTT	p.V80V	CDH20_uc002lif.2_Silent_p.V74V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CTTTGTATGTCGGCAAGGTAA	0.448000												
RNF152	220441	broad.mit.edu	37	18	59483784	59483784	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:59483784G>T	uc002lih.1	-	2	325	c.-87C>A	c.(-89--85)ACCTG>ACATG			NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152						apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				TTGCAGTGCAGGTAATGGCAA	0.493000												
RTTN	25914	broad.mit.edu	37	18	67684875	67684875	+	Silent	SNP	C	C	T	rs77798966	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:67684875C>T	uc002lkp.2	-	46	6257	c.6189G>A	c.(6187-6189)TTG>TTA	p.L2063L	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L1151L|RTTN_uc002lkn.2_Silent_p.L53L|RTTN_uc010dqp.2_Silent_p.L315L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2063							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CTCCTTTTGGCAATGCTAGAG	0.343000												
RTTN	25914	broad.mit.edu	37	18	67869182	67869182	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:67869182A>G	uc002lkp.2	-	4	503	c.435T>C	c.(433-435)TTT>TTC	p.F145F	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.F145F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	145							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TGTCTTGGGGAAAATATCCTG	0.373000												
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:70417577G>A	uc002lkw.2	-	9	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	421	Cytoplasmic (Potential).				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)		GATGACCTCCGCAGTTTATGG	0.458000												
CNDP2	55748	broad.mit.edu	37	18	72185805	72185805	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:72185805C>T	uc002llm.1	+	10	1302	c.1140C>T	c.(1138-1140)CAC>CAT	p.H380H	CNDP2_uc002lln.1_Silent_p.H296H|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	380						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACATGGGCCACGGTGGGAAGC	0.512000												
SALL3	27164	broad.mit.edu	37	18	76753717	76753717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:76753717G>A	uc002lmt.2	+	2	1726	c.1726G>A	c.(1726-1728)GGC>AGC	p.G576S	SALL3_uc010dra.2_Missense_Mutation_p.G183S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGTGGAGTCCGGCGTGTCGGC	0.746000												
ATP9B	374868	broad.mit.edu	37	18	77090075	77090075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:77090075G>A	uc002lmx.2	+	17	2013	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ATP9B_uc002lmw.1_Missense_Mutation_p.V667M|ATP9B_uc002lmz.1_Missense_Mutation_p.V361M	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	667	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCTCCTATCGTGCAGTATAA	0.463000												
ADNP2	22850	broad.mit.edu	37	18	77895658	77895658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:77895658C>T	uc002lnw.2	+	4	2817	c.2362C>T	c.(2362-2364)CAC>TAC	p.H788Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	788	C2H2-type 3.				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)		TCTTTCAGAGCACAGCAGGAA	0.473000												
C19orf21	126353	broad.mit.edu	37	19	761663	761663	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:761663G>T	uc002lpo.2	+	4	2033	c.1950G>T	c.(1948-1950)GAG>GAT	p.E650D		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	650										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TCAACTCAGAGGTGAGTATGC	0.607000												
PTBP1	5725	broad.mit.edu	37	19	807901	807901	+	Silent	SNP	C	C	T	rs138165723		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:807901C>T	uc002lpr.2	+	10	1180	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	PTBP1_uc002lpp.2_Silent_p.F384F|PTBP1_uc002lpq.2_Silent_p.F377F|PTBP1_uc002lps.2_Silent_p.F24F|PTBP1_uc002lpt.2_Intron|PTBP1_uc002lpu.1_Silent_p.F354F	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	358	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		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)		TTATTCTTTTCGGTATGTTAT	0.468000												
WDR18	57418	broad.mit.edu	37	19	990308	990308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:990308G>A	uc002lqm.1	+	4	567	c.541G>A	c.(541-543)GGC>AGC	p.G181S	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.G144S|WDR18_uc010dry.1_Missense_Mutation_p.G181S	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	181	WD 4.									skin(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)		CCTGCACTGCGGCTTTGGGGG	0.726000												
ABCA7	10347	broad.mit.edu	37	19	1056183	1056183	+	Missense_Mutation	SNP	C	C	T	rs144562001	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1056183C>T	uc002lqw.3	+	32	4588	c.4357C>T	c.(4357-4359)CGT>TGT	p.R1453C	ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1453	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)		GGCCCTCGACCGTGTCCTGAA	0.677000												
MIDN	90007	broad.mit.edu	37	19	1257111	1257111	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1257111A>G	uc002lrp.2	+	8	1762	c.1247A>G	c.(1246-1248)TAC>TGC	p.Y416C		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	416						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGGGGTCCGTACCACTGGTCA	0.706000												
EFNA2	1943	broad.mit.edu	37	19	1299833	1299833	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1299833G>A	uc002lry.1	+	4	531	c.531G>A	c.(529-531)CTG>CTA	p.L177L		NM_001405	NP_001396	O43921	EFNA2_HUMAN	ephrin-A2 precursor	177					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ACGAGACCCTGTACGAGGCTC	0.687000												
MBD3	53615	broad.mit.edu	37	19	1581146	1581146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1581146G>A	uc002ltl.1	-	5	644	c.622C>T	c.(622-624)CTC>TTC	p.L208F	MBD3_uc002ltj.2_Missense_Mutation_p.L208F|MBD3_uc002ltk.2_Missense_Mutation_p.L176F	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	208					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)		GTGGTGTTGAGCCATACGCCG	0.642000												
ATP8B3	148229	broad.mit.edu	37	19	1796734	1796734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1796734G>A	uc002ltw.2	-	16	1963	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	ATP8B3_uc002ltv.2_Missense_Mutation_p.R530W|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	577	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				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)		GGGCTCTCCCGCACCATCACC	0.721000												
C19orf36	113177	broad.mit.edu	37	19	2099002	2099002	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:2099002T>C	uc002luw.1	+	9	659	c.582T>C	c.(580-582)CCT>CCC	p.P194P	C19orf36_uc002lux.1_Intron|C19orf36_uc010xgw.1_3'UTR	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	hypothetical protein LOC113177 isoform 3	194						extracellular region					0		Ovarian(11;1.78e-06)|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)		TCTCCTGGCCTGGGACACACA	0.622000												
MATK	4145	broad.mit.edu	37	19	3779589	3779589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3779589C>T	uc002lyt.2	-	10	1269	c.869G>A	c.(868-870)CGT>CAT	p.R290H	MATK_uc002lyv.2_Missense_Mutation_p.R291H|MATK_uc002lyu.2_Missense_Mutation_p.R249H|MATK_uc010dtq.2_Missense_Mutation_p.R290H	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	290	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAGGAGACGCACCAGGTT	0.721000												
TMIGD2	126259	broad.mit.edu	37	19	4298063	4298063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4298063G>A	uc002lzx.1	-	2	372	c.326C>T	c.(325-327)GCG>GTG	p.A109V	TMIGD2_uc010dtv.1_Missense_Mutation_p.A109V	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	109	Extracellular (Potential).|Ig-like.					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACACGTACGCCCCGCTGTG	0.662000												
DPP9	91039	broad.mit.edu	37	19	4703929	4703929	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4703929G>A	uc002mba.2	-	7	996	c.738C>T	c.(736-738)GGC>GGT	p.G246G	DPP9_uc002mbb.2_Silent_p.G246G|DPP9_uc002mbc.2_Silent_p.G246G	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	217					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)		GCCGCTCCTCGCCTGTCTCGA	0.642000												
UHRF1	29128	broad.mit.edu	37	19	4932935	4932935	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:4932935C>A	uc002mbo.2	+	5	920	c.752C>A	c.(751-753)ACG>AAG	p.T251K	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.T264K	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	251					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGACCAGGACGGCGCGGGAA	0.677000												
KDM4B	23030	broad.mit.edu	37	19	5144107	5144107	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5144107G>A	uc002mbq.3	+	19	2906	c.2680G>A	c.(2680-2682)GAC>AAC	p.D894N	KDM4B_uc010xim.1_Missense_Mutation_p.D928N|KDM4B_uc002mbr.3_Missense_Mutation_p.D652N	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	894	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						GGAGCCGGACGACTGGCCCTA	0.667000												
KDM4B	23030	broad.mit.edu	37	19	5144277	5144277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5144277G>A	uc002mbq.3	+	20	2981	c.2755G>A	c.(2755-2757)GTG>ATG	p.V919M	KDM4B_uc010xim.1_Missense_Mutation_p.V953M|KDM4B_uc002mbr.3_Missense_Mutation_p.V677M	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	919	Tudor 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCTGAGGGCCGTGTCCCTAGG	0.687000												
PTPRS	5802	broad.mit.edu	37	19	5222849	5222849	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5222849G>A	uc002mbv.2	-	18	3188	c.2954C>T	c.(2953-2955)GCA>GTA	p.A985V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.A963V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	985	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTCAGCCGCTGCCGGCAGCTC	0.736000												
PTPRS	5802	broad.mit.edu	37	19	5244269	5244269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5244269C>T	uc002mbv.2	-	11	1447	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I	PTPRS_uc002mbu.1_Missense_Mutation_p.V392I|PTPRS_uc010xin.1_Missense_Mutation_p.V392I|PTPRS_uc002mbw.2_Missense_Mutation_p.V392I|PTPRS_uc002mbx.2_Missense_Mutation_p.V396I|PTPRS_uc002mby.2_Missense_Mutation_p.V392I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	405	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGGAGTTGACGGCCGACACC	0.667000												
ZNRF4	148066	broad.mit.edu	37	19	5456563	5456563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:5456563C>T	uc002mca.3	+	1	1138	c.1061C>T	c.(1060-1062)TCG>TTG	p.S354L		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	354	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGCAAACAGTCGGTGGCCGCC	0.632000												
SLC25A41	284427	broad.mit.edu	37	19	6427487	6427487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:6427487C>T	uc010dus.2	-	5	736	c.650G>A	c.(649-651)CGT>CAT	p.R217H	KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Missense_Mutation_p.R79H	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	217	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GCCCGTCCGACGCAAGGTCAA	0.493000												
DENND1C	79958	broad.mit.edu	37	19	6468083	6468083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:6468083G>A	uc002mfe.2	-	23	1930	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	DENND1C_uc002mfb.2_Missense_Mutation_p.P163L|DENND1C_uc002mfc.2_Missense_Mutation_p.P163L|DENND1C_uc002mfd.2_Missense_Mutation_p.P163L|DENND1C_uc010xje.1_Missense_Mutation_p.P569L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	613						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CTGGGGCTCCGGCTCTGGTAG	0.547000												
ARHGEF18	23370	broad.mit.edu	37	19	7527040	7527040	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:7527040C>T	uc002mgi.2	+	11	2144	c.1891C>T	c.(1891-1893)CGG>TGG	p.R631W	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R473W|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R473W|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R274W	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	631					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CTCTGCAGAGCGGTTGAGCAT	0.617000												
ELAVL1	1994	broad.mit.edu	37	19	8046031	8046031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8046031G>A	uc002mjb.2	-	3	379	c.212C>T	c.(211-213)GCG>GTG	p.A71V		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	71	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TGCATCCTTCGCGGTCACGTA	0.527000												
FBN3	84467	broad.mit.edu	37	19	8171112	8171112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8171112C>T	uc002mjf.2	-	37	4714	c.4693G>A	c.(4693-4695)GAC>AAC	p.D1565N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1565	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TGGCACTCGTCGATGTCTGTC	0.582000												
ADAMTS10	81794	broad.mit.edu	37	19	8656952	8656952	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:8656952C>T	uc002mkj.1	-	14	1897	c.1623G>A	c.(1621-1623)TCG>TCA	p.S541S	ADAMTS10_uc002mki.1_Missense_Mutation_p.R32H|ADAMTS10_uc002mkk.1_Silent_p.S173S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	541	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCTCTGGGCGCGACCCAAAGG	0.687000												
MUC16	94025	broad.mit.edu	37	19	9069345	9069345	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:9069345T>C	uc002mkp.2	-	3	18305	c.18101A>G	c.(18100-18102)CAG>CGG	p.Q6034R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6036	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						TCCGGATGGCTGGGAGTGGAT	0.438000												
COL5A3	50509	broad.mit.edu	37	19	10077289	10077289	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:10077289C>T	uc002mmq.1	-	63	4678	c.4592G>A	c.(4591-4593)CGG>CAG	p.R1531Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1531	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GGGAGGACGCCGCAGCTGCTC	0.726000												
CDC37	11140	broad.mit.edu	37	19	10504054	10504054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:10504054G>A	uc002mof.1	-	6	906	c.790C>T	c.(790-792)CGG>TGG	p.R264W	CDC37_uc002moe.1_Missense_Mutation_p.R219W|CDC37_uc010dxf.1_Missense_Mutation_p.R101W|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R264W	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	264					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GCACGGCCCCGCACACGCTCC	0.657000												
SMARCA4	6597	broad.mit.edu	37	19	11169473	11169473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11169473C>T	uc002mqf.3	+	32	4827	c.4543C>T	c.(4543-4545)CGC>TGC	p.R1515C	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1515C|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1547C|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1482C|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1481C|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1485C|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1484C|SMARCA4_uc002mqh.3_Missense_Mutation_p.R605C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1515	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGCGCATTCGCAACCACAA	0.647000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LDLR	3949	broad.mit.edu	37	19	11213391	11213391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11213391G>A	uc002mqk.3	+	3	410	c.242G>A	c.(241-243)CGC>CAC	p.R81H	LDLR_uc010xlk.1_Missense_Mutation_p.R81H|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Missense_Mutation_p.R81H|LDLR_uc010xlo.1_Missense_Mutation_p.R81H	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	81	Extracellular (Potential).|LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGTGTCAACCGCTGCATTCCT	0.552000												
RAB3D	9545	broad.mit.edu	37	19	11447929	11447929	+	Silent	SNP	G	G	A	rs151261006		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11447929G>A	uc002mqy.2	-	2	385	c.147C>T	c.(145-147)CCC>CCT	p.P49P		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	49					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						TGACGAAGGCGGGAGTGAAGG	0.527000												
CNN1	1264	broad.mit.edu	37	19	11660584	11660584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11660584G>A	uc002msc.1	+	7	1032	c.868G>A	c.(868-870)GCA>ACA	p.A290T	CNN1_uc010xmb.1_Missense_Mutation_p.A240T|CNN1_uc010xmc.1_Missense_Mutation_p.A240T	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	290					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0						CAACCACCACGCACACAACTA	0.632000												
FBXW9	84261	broad.mit.edu	37	19	12805508	12805508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:12805508C>T	uc010dyx.2	-	3	548	c.548G>A	c.(547-549)CGA>CAA	p.R183Q	FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R193Q|FBXW9_uc002mun.1_Missense_Mutation_p.R30Q	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	193	WD 1.						protein binding			ovary(1)	1						GTTGCGATCTCGGGAGCCCGA	0.612000												
HOOK2	29911	broad.mit.edu	37	19	12882099	12882099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:12882099G>A	uc002muy.2	-	9	806	c.635C>T	c.(634-636)GCG>GTG	p.A212V	HOOK2_uc002muz.2_Missense_Mutation_p.A212V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	212	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						ATTCTCTTGCGCCAGGCTCTG	0.637000												
CACNA1A	773	broad.mit.edu	37	19	13368350	13368350	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13368350C>T	uc010dze.2	-	28	4643	c.4407G>A	c.(4405-4407)TCG>TCA	p.S1469S	CACNA1A_uc010xnd.1_Silent_p.S174S|CACNA1A_uc002mwx.3_Silent_p.S174S|CACNA1A_uc010dzc.2_Silent_p.S994S|CACNA1A_uc002mwy.3_Silent_p.S1468S|CACNA1A_uc010xne.1_Silent_p.S997S|CACNA1A_uc002mwv.3_5'UTR	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1469	III.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCGTCCACCGAATGCTTGA	0.338000												
CACNA1A	773	broad.mit.edu	37	19	13565925	13565925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13565925C>T	uc010dze.2	-	2	631	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	CACNA1A_uc002mwy.3_Missense_Mutation_p.R132Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	132	Extracellular (Potential).|I.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTCACCAGCCGTTCAGACAT	0.502000												
ZSWIM4	65249	broad.mit.edu	37	19	13941742	13941742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13941742C>T	uc002mxh.1	+	13	3037	c.2848C>T	c.(2848-2850)CGG>TGG	p.R950W	ZSWIM4_uc010xng.1_Missense_Mutation_p.R873W	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	950							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCAAGGCCCGGGAGACCTT	0.592000												
C19orf57	79173	broad.mit.edu	37	19	14000612	14000612	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14000612C>T	uc002mxl.1	-	6	1116	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	C19orf57_uc002mxk.1_Missense_Mutation_p.A235T|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	353					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCTCCAGAGCCCTCTCTTCC	0.642000												
LPHN1	22859	broad.mit.edu	37	19	14269241	14269241	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14269241A>C	uc010xnn.1	-	13	2584	c.2288T>G	c.(2287-2289)GTG>GGG	p.V763G	LPHN1_uc010xno.1_Missense_Mutation_p.V758G|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	763	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						CTGTGAGTTCACCACTAGAGA	0.617000												
CD97	976	broad.mit.edu	37	19	14507207	14507207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14507207G>A	uc002myl.2	+	5	523	c.400G>A	c.(400-402)GTC>ATC	p.V134I	CD97_uc002mym.2_Missense_Mutation_p.V134I|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	134	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						CGGCACCTGCGTCAACACCCT	0.572000												
OR7C1	26664	broad.mit.edu	37	19	14910543	14910543	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:14910543T>C	uc010xnz.1	-	1	406	c.406A>G	c.(406-408)ATG>GTG	p.M136V		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	136	Cytoplasmic (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TGGGGGTTCATGATGACCGTA	0.532000												
CYP4F22	126410	broad.mit.edu	37	19	15636167	15636167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15636167G>A	uc002nbh.3	+	3	187	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	7						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R7H(1)		ovary(1)|pancreas(1)	2						ATCACAGACCGCCTGCTGCAC	0.612000												
CYP4F11	57834	broad.mit.edu	37	19	16045144	16045144	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16045144A>G	uc002nbu.2	-	2	111	c.75T>C	c.(73-75)GTT>GTC	p.V25V	CYP4F11_uc010eab.1_Silent_p.V25V|CYP4F11_uc002nbt.2_Silent_p.V25V	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	25	Helical; (Potential).				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AGGAGCCTCCAACCAGCAGCA	0.657000												
USHBP1	83878	broad.mit.edu	37	19	17373608	17373608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17373608G>A	uc002nfs.1	-	4	508	c.395C>T	c.(394-396)GCG>GTG	p.A132V	USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.A68V|USHBP1_uc010eam.1_Missense_Mutation_p.A60V	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	132							PDZ domain binding			ovary(1)	1						GGCTGCAGCCGCTGCCTCCAG	0.647000												
SLC27A1	376497	broad.mit.edu	37	19	17612144	17612144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17612144G>A	uc002ngu.1	+	11	1749	c.1699G>A	c.(1699-1701)GCG>ACG	p.A567T	SLC27A1_uc010xpp.1_Missense_Mutation_p.A388T|SLC27A1_uc002ngv.1_Missense_Mutation_p.A169T	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	567	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GGACCCCAACGCGATATACCA	0.672000												
UNC13A	23025	broad.mit.edu	37	19	17743609	17743609	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17743609C>T	uc002nhd.2	-	28	3674	c.3674G>A	c.(3673-3675)CGC>CAC	p.R1225H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1137	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CTCAGGCACGCGGTCCTTGAA	0.478000												
MAP1S	55201	broad.mit.edu	37	19	17845108	17845108	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:17845108G>A	uc002nhe.1	+	7	3060	c.3051G>A	c.(3049-3051)TCG>TCA	p.S1017S	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.S265S|MAP1S_uc010xpv.1_Silent_p.S991S	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1017	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CTTTCGACTCGGTGGCCATGC	0.662000												
PDE4C	5143	broad.mit.edu	37	19	18327613	18327613	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:18327613C>A	uc010xqc.1	-	12	1903	c.1423G>T	c.(1423-1425)GAT>TAT	p.D475Y	PDE4C_uc002nik.3_Missense_Mutation_p.D475Y|PDE4C_uc002nil.3_Missense_Mutation_p.D475Y|PDE4C_uc002nif.3_Missense_Mutation_p.D244Y|PDE4C_uc002nig.3_Missense_Mutation_p.D190Y|PDE4C_uc002nih.3_Missense_Mutation_p.D245Y|PDE4C_uc010ebk.2_Missense_Mutation_p.D369Y|PDE4C_uc002nii.3_Missense_Mutation_p.D443Y|PDE4C_uc010ebl.2_Missense_Mutation_p.D189Y|PDE4C_uc010xqd.1_Missense_Mutation_p.D244Y	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602000												
CRLF1	9244	broad.mit.edu	37	19	18709685	18709685	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:18709685T>C	uc010ebt.1	-	3	618	c.424A>G	c.(424-426)AGC>GGC	p.S142G		NM_004750	NP_004741	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1 precursor	142	Fibronectin type-III 1.				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						GACCAGCAGCTGATGTTGACG	0.617000												
TM6SF2	53345	broad.mit.edu	37	19	19381886	19381886	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19381886G>A	uc002nmd.1	-	2	194	c.144C>T	c.(142-144)TTC>TTT	p.F48F	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	48	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			AGACCGCCACGAAAAGCAGAC	0.602000												
PBX4	80714	broad.mit.edu	37	19	19675819	19675819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19675819G>A	uc002nmy.2	-	6	849	c.848C>T	c.(847-849)ACG>ATG	p.T283M	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.T118M	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	283			T -> M (in a colorectal cancer sample; somatic mutation).				sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T283M(1)		large_intestine(1)|ovary(1)	2						CGTTTTACCCGTGTAAATGGT	0.537000												
GMIP	51291	broad.mit.edu	37	19	19749285	19749285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:19749285C>T	uc002nnd.2	-	8	661	c.544G>A	c.(544-546)GCC>ACC	p.A182T	GMIP_uc010xrb.1_Missense_Mutation_p.A182T|GMIP_uc010xrc.1_Missense_Mutation_p.A182T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	182					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						CGTTTGGCGGCGAGGGGCTGG	0.592000												
ZNF708	7562	broad.mit.edu	37	19	21493361	21493361	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:21493361T>C	uc002npq.1	-	2	270	c.72A>G	c.(70-72)GCA>GCG	p.A24A	ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AATTCTGCTGTGCTGTGTCCA	0.353000												
ZNF507	22847	broad.mit.edu	37	19	32845552	32845552	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:32845552G>A	uc002nte.2	+	3	2088	c.1816G>A	c.(1816-1818)GAC>AAC	p.D606N	ZNF507_uc002ntc.2_Missense_Mutation_p.D606N|ZNF507_uc010xrn.1_Missense_Mutation_p.D606N|ZNF507_uc002ntd.2_Missense_Mutation_p.D606N	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	606					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)					TTCAGACGATGACATTTTGAA	0.468000												
RHPN2	85415	broad.mit.edu	37	19	33482773	33482773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:33482773C>T	uc002nuf.2	-	13	1666	c.1600G>A	c.(1600-1602)GCC>ACC	p.A534T	RHPN2_uc010xro.1_Missense_Mutation_p.A383T|RHPN2_uc002nue.2_Missense_Mutation_p.A264T	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	534	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TGAACGGGGGCGTTCCCTCTC	0.522000												
CHST8	64377	broad.mit.edu	37	19	34263827	34263827	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:34263827G>A	uc002nus.3	+	5	1639	c.1134G>A	c.(1132-1134)TCG>TCA	p.S378S	CHST8_uc002nut.3_Silent_p.S378S|CHST8_uc002nuu.2_Silent_p.S378S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	378	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ACCGGCACTCGCAGGAGGCGC	0.617000												
PDCD2L	84306	broad.mit.edu	37	19	34916951	34916951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:34916951C>T	uc002nvj.2	+	7	1036	c.1003C>T	c.(1003-1005)CCC>TCC	p.P335S	UBA2_uc010xrx.1_5'Flank|UBA2_uc002nvk.2_5'Flank|UBA2_uc002nvl.2_5'Flank	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	335						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTTGCTGGCCCCCAAATCA	0.343000												
FAM187B	148109	broad.mit.edu	37	19	35719208	35719208	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:35719208T>G	uc002nyk.1	-	1	421	c.376A>C	c.(376-378)AGG>CGG	p.R126R		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	126	Extracellular (Potential).					integral to membrane				ovary(2)	2						TGCAGGGGCCTCTGACCCAGG	0.557000												
MAG	4099	broad.mit.edu	37	19	35801066	35801066	+	Splice_Site	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:35801066T>C	uc002nyy.1	+	8	1668	c.1519_splice	c.e8+2	p.H507_splice	MAG_uc002nyx.1_Splice_Site_p.H507_splice|MAG_uc010eds.1_Splice_Site_p.H482_splice|MAG_uc002nyz.1_Splice_Site_p.H507_splice	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a						blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGAGCCCGTGAGTGGCGTG	0.672000												
RBM42	79171	broad.mit.edu	37	19	36128120	36128120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36128120G>A	uc002oan.2	+	9	1272	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	RBM42_uc010eef.2_Missense_Mutation_p.R345H|RBM42_uc002oao.2_Missense_Mutation_p.R377H|RBM42_uc002oap.2_Missense_Mutation_p.R369H|RBM42_uc002oaq.2_Missense_Mutation_p.R370H|RBM42_uc010eeg.2_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	399	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCTTGGCACGCGCCTTCAGC	0.572000												
WDR62	284403	broad.mit.edu	37	19	36558217	36558217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36558217G>A	uc002odc.2	+	6	662	c.571G>A	c.(571-573)GTA>ATA	p.V191I	WDR62_uc002odd.2_Missense_Mutation_p.V191I|WDR62_uc002odb.2_Missense_Mutation_p.V191I	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	191	WD 2.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAAGACATCGTAGTGGCCTC	0.512000												
ZNF607	84775	broad.mit.edu	37	19	38200708	38200708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38200708C>T	uc002ohc.1	-	3	621	c.25G>A	c.(25-27)GGG>AGG	p.G9R	ZNF607_uc002ohb.1_Missense_Mutation_p.G9R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GCCACATCCCCGAATGTTATT	0.383000												
ZNF573	126231	broad.mit.edu	37	19	38230302	38230302	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38230302A>G	uc002ohe.2	-	4	1111	c.1089T>C	c.(1087-1089)TGT>TGC	p.C363C	ZNF573_uc010efs.2_Silent_p.C276C|ZNF573_uc002ohd.2_Silent_p.C361C|ZNF573_uc002ohf.2_Silent_p.C305C|ZNF573_uc002ohg.2_Silent_p.C275C	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	343	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGGTTTTCTTACACTCCTTAC	0.368000												
SIPA1L3	23094	broad.mit.edu	37	19	38572684	38572684	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38572684G>A	uc002ohk.2	+	3	988	c.479G>A	c.(478-480)GGC>GAC	p.G160D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	160					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)			CGGTCCCCCGGCAGGGCCTTC	0.706000												
ACTN4	81	broad.mit.edu	37	19	39218595	39218595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39218595G>A	uc002oja.1	+	19	2406	c.2347G>A	c.(2347-2349)GGG>AGG	p.G783R	ACTN4_uc002ojb.1_Missense_Mutation_p.G105R	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	783	1 (Potential).|EF-hand 1.				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)			GGATCATGGCGGGGCGCTGGG	0.692000												
PLEKHG2	64857	broad.mit.edu	37	19	39914556	39914556	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39914556C>T	uc010xuz.1	+	19	3108	c.2783C>T	c.(2782-2784)CCG>CTG	p.P928L	PLEKHG2_uc010xuy.1_Missense_Mutation_p.P869L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P706L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	928					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	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAGACCTTCCGGGCATCCAC	0.582000												
PLEKHG2	64857	broad.mit.edu	37	19	39914847	39914847	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39914847A>C	uc010xuz.1	+	19	3399	c.3074A>C	c.(3073-3075)GAG>GCG	p.E1025A	PLEKHG2_uc010xuy.1_Missense_Mutation_p.E966A|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E803A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1025					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	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGCCCAAGGAGATTTGTTCT	0.522000												
SUPT5H	6829	broad.mit.edu	37	19	39955492	39955492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39955492G>A	uc002olo.3	+	11	858	c.679G>A	c.(679-681)GTG>ATG	p.V227M	SUPT5H_uc002olp.3_Missense_Mutation_p.V227M|SUPT5H_uc002olq.3_Missense_Mutation_p.V223M|SUPT5H_uc002oln.3_Missense_Mutation_p.V227M|SUPT5H_uc002olr.3_Missense_Mutation_p.V227M|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	227	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATCTACGTGGAGGCCTA	0.587000												
TIMM50	92609	broad.mit.edu	37	19	39971319	39971319	+	Silent	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39971319G>C	uc002olu.1	+	1	268	c.135G>C	c.(133-135)GGG>GGC	p.G45G	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	21					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCCCCAGGGTCAGCCAGGA	0.647000												
DLL3	10683	broad.mit.edu	37	19	39998592	39998592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39998592G>A	uc002olx.2	+	8	1854	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	599	Cytoplasmic (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACACTGGGCGCGCTGGGCAG	0.532000												
HIPK4	147746	broad.mit.edu	37	19	40889761	40889761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:40889761G>A	uc002onp.2	-	2	1036	c.751C>T	c.(751-753)CGC>TGC	p.R251C		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGGGGTTGCGCTTGAAGAAG	0.617000												
SPTBN4	57731	broad.mit.edu	37	19	40993659	40993659	+	Silent	SNP	C	C	T	rs148022541	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:40993659C>T	uc002ony.2	+	3	311	c.225C>T	c.(223-225)CTC>CTT	p.L75L	SPTBN4_uc002onx.2_Silent_p.L75L|SPTBN4_uc002onz.2_Silent_p.L75L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	75	CH 1.|Actin-binding.				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)			ACTCGCACCTCGCCCGCGTGG	0.642000												
HNRNPUL1	11100	broad.mit.edu	37	19	41811718	41811718	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41811718G>A	uc002oqb.3	+	14	2689	c.2400G>A	c.(2398-2400)CCG>CCA	p.P800P	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P700P|HNRNPUL1_uc002oqa.3_Silent_p.P710P|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Silent_p.P696P|HNRNPUL1_uc002oqe.3_Silent_p.P109P|HNRNPUL1_uc002oqd.3_Silent_p.P700P|HNRNPUL1_uc010ehn.2_Silent_p.P710P|HNRNPUL1_uc010eho.2_Silent_p.P700P|HNRNPUL1_uc010xvy.1_Silent_p.P700P|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc002oqf.3_Silent_p.P334P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	800	Tyr-rich.|Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.P800P(1)		central_nervous_system(1)|skin(1)	2						ATACCCCACCGCCACCCCCCA	0.627000												
HNRNPUL1	11100	broad.mit.edu	37	19	41812469	41812469	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41812469A>G	uc002oqb.3	+	15	2859	c.2570A>G	c.(2569-2571)TAG>TGG	p.*857W	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Nonstop_Mutation_p.*757W|HNRNPUL1_uc002oqa.3_Nonstop_Mutation_p.*767W|HNRNPUL1_uc010ehm.2_Nonstop_Mutation_p.*805W|HNRNPUL1_uc002oqc.3_Nonstop_Mutation_p.*753W|HNRNPUL1_uc002oqe.3_Nonstop_Mutation_p.*166W|HNRNPUL1_uc002oqd.3_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010ehn.2_Nonstop_Mutation_p.*767W|HNRNPUL1_uc010eho.2_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010xvy.1_Nonstop_Mutation_p.*757W|HNRNPUL1_uc010ehp.2_Nonstop_Mutation_p.*649W|HNRNPUL1_uc002oqf.3_Nonstop_Mutation_p.*391W	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	857					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						AGTACACAGTAGCCAGTGTGA	0.652000												
BCKDHA	593	broad.mit.edu	37	19	41920016	41920016	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:41920016C>T	uc002oqq.2	+	4	467	c.438C>T	c.(436-438)GCC>GCT	p.A146A	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.A180A|BCKDHA_uc002oqp.1_Silent_p.A38A|BCKDHA_uc002oqr.2_Silent_p.A146A|BCKDHA_uc010xvz.1_Silent_p.A124A	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	146					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						GGAGTGCCGCCGCCCTGGACA	0.607000												
TMEM145	284339	broad.mit.edu	37	19	42828932	42828932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42828932G>A	uc002otk.1	+	15	1497	c.1445G>A	c.(1444-1446)CGT>CAT	p.R482H	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	482						integral to membrane					0		Prostate(69;0.00682)				CCGCTGTTCCGTGACCTCCGG	0.726000												
LIPE	3991	broad.mit.edu	37	19	42914870	42914870	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42914870G>A	uc002otr.2	-	2	1285	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.G81G	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	336					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CGGCAAAAACGCCTGACAGCC	0.662000												
ZNF404	342908	broad.mit.edu	37	19	44377220	44377220	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:44377220T>C	uc002oxs.3	-	2	1146	c.1137A>G	c.(1135-1137)CCA>CCG	p.P379P		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	zinc finger protein 404	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TACATTCATGTGGCTTCTCAC	0.353000												
ZNF224	7767	broad.mit.edu	37	19	44611764	44611764	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:44611764T>C	uc002oyh.1	+	6	1753	c.1451T>C	c.(1450-1452)TTC>TCC	p.F484S	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	484	C2H2-type 12.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				GAAAAACCATTCCAATGTGAA	0.413000												
TOMM40	10452	broad.mit.edu	37	19	45406424	45406424	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45406424T>C	uc002ozx.3	+	10	1185	c.1084T>C	c.(1084-1086)TGA>CGA	p.*362R	TOMM40_uc002ozy.3_Nonstop_Mutation_p.*362R|TOMM40_uc002paa.3_Nonstop_Mutation_p.*362R|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	362					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CACCATCGGCTGAGCCCTCCT	0.652000												
MARK4	57787	broad.mit.edu	37	19	45762390	45762390	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45762390T>C	uc002pbb.1	+	2	200	c.195T>C	c.(193-195)ATT>ATC	p.I65I	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.I65I			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	65	ATP (By similarity).|Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGAGGACCATTGGGAAGGGCA	0.657000												
GIPR	2696	broad.mit.edu	37	19	46180362	46180362	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46180362C>A	uc002pcu.1	+	8	888	c.789C>A	c.(787-789)GGC>GGA	p.G263G	GIPR_uc002pct.1_Silent_p.G263G|GIPR_uc010xxp.1_Silent_p.G227G|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	263	Helical; Name=4; (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGCTCCTCGGCTGGGGTGAGC	0.687000												
FBXO46	23403	broad.mit.edu	37	19	46215278	46215278	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46215278C>T	uc002pcy.2	-	2	1601	c.1476G>A	c.(1474-1476)GCG>GCA	p.A492A	FBXO46_uc002pcz.2_Silent_p.A492A	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	492	F-box.						protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCGGCCAGCGCGCGCGTGG	0.652000												
SYMPK	8189	broad.mit.edu	37	19	46330880	46330880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:46330880C>T	uc002pdn.2	-	16	2314	c.2069G>A	c.(2068-2070)AGT>AAT	p.S690N	SYMPK_uc002pdo.1_Missense_Mutation_p.S690N|SYMPK_uc002pdp.1_Missense_Mutation_p.S690N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	690					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATAGGTGCGACTCTGCAGCAA	0.587000												
CCDC9	26093	broad.mit.edu	37	19	47768157	47768157	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:47768157G>C	uc010xym.1	+	7	881	c.674G>C	c.(673-675)GGC>GCC	p.G225A		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	225											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)		AACTGGGGGGGCCCCGACTTC	0.721000												
DHX34	9704	broad.mit.edu	37	19	47880430	47880430	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:47880430C>T	uc010xyn.1	+	13	3014	c.2673C>T	c.(2671-2673)TAC>TAT	p.Y891Y	DHX34_uc010xyo.1_Silent_p.Y20Y	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	891						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACAAGCCGTACCTGGTGAACT	0.627000												
ELSPBP1	64100	broad.mit.edu	37	19	48519210	48519210	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48519210C>A	uc002pht.2	+	4	424	c.269C>A	c.(268-270)TCC>TAC	p.S90Y		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	90	Fibronectin type-II 2.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGCTGCATCTCCCAGGGCAGC	0.478000												
LIG1	3978	broad.mit.edu	37	19	48660365	48660365	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48660365C>T	uc002pia.1	-	5	396	c.276G>A	c.(274-276)CCG>CCA	p.P92P	LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.P92P|LIG1_uc010xzg.1_Silent_p.P62P|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	92					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CAGGACGGGGCGGGGAGACCT	0.562000								NER				
HRC	3270	broad.mit.edu	37	19	49656780	49656780	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49656780T>C	uc002pmv.2	-	1	1902	c.1715A>G	c.(1714-1716)GAG>GGG	p.E572G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	572					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ctcctcctcctcctcttcctc	0.378000												
SLC17A7	57030	broad.mit.edu	37	19	49938077	49938077	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49938077C>T	uc002pnp.2	-	4	669	c.497G>A	c.(496-498)CGC>CAC	p.R166H	SLC17A7_uc002pnq.1_Missense_Mutation_p.R99H|SLC17A7_uc002pno.2_5'Flank	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	166	Extracellular (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)		ATAGTGGACGCGGGCAGCTGA	0.542000												
BCL2L12	83596	broad.mit.edu	37	19	50173481	50173481	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50173481G>A	uc002ppa.2	+	6	1372	c.690G>A	c.(688-690)TCG>TCA	p.S230S	BCL2L12_uc002ppb.2_Silent_p.S229S	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	BCL2-like 12 isoform 1	230					apoptosis					central_nervous_system(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		AGCTGGCCTCGGACCCCGCCC	0.697000												
TSKS	60385	broad.mit.edu	37	19	50266482	50266482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50266482G>A	uc002ppm.2	-	1	34	c.23C>T	c.(22-24)ACG>ATG	p.T8M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	8							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCAGATCGTCTTCACCAC	0.642000												
SIGLEC10	89790	broad.mit.edu	37	19	51918574	51918574	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:51918574C>A	uc002pwo.2	-	7	1807	c.1191G>T	c.(1189-1191)CAG>CAT	p.Q397H	SIGLEC10_uc002pwp.2_Missense_Mutation_p.Q339H|SIGLEC10_uc002pwq.2_Missense_Mutation_p.Q339H|SIGLEC10_uc002pwr.2_Missense_Mutation_p.Q397H|SIGLEC10_uc010ycy.1_Missense_Mutation_p.Q307H|SIGLEC10_uc010ycz.1_Missense_Mutation_p.Q349H|SIGLEC10_uc010eow.2_Missense_Mutation_p.Q209H|SIGLEC10_uc002pws.1_Missense_Mutation_p.Q233H	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	397	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCTCAGAACCTGTCCCCTCT	0.662000												
ZNF350	59348	broad.mit.edu	37	19	52468751	52468751	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:52468751T>C	uc002pyd.2	-	5	1183	c.955A>G	c.(955-957)ATA>GTA	p.I319V	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	319	C2H2-type 5.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCATTGCATATATAAGGTTTC	0.423000												
ZNF610	162963	broad.mit.edu	37	19	52869533	52869533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:52869533C>T	uc002pyx.3	+	6	1308	c.902C>T	c.(901-903)TCG>TTG	p.S301L	ZNF610_uc002pyy.3_Missense_Mutation_p.S301L|ZNF610_uc002pyz.3_Missense_Mutation_p.S258L|ZNF610_uc002pza.2_Missense_Mutation_p.S301L	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	301	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAGAGTGTTCGGGACTTACT	0.393000												
ZNF347	84671	broad.mit.edu	37	19	53644231	53644231	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53644231C>A	uc002qbb.1	-	5	1919	c.1850G>T	c.(1849-1851)CGA>CTA	p.R617L	ZNF347_uc010eql.1_Missense_Mutation_p.R618L|ZNF347_uc002qbc.1_Missense_Mutation_p.R618L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	617	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCGCTGATGCCT	0.393000												
ZNF765	91661	broad.mit.edu	37	19	53911306	53911306	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53911306G>A	uc010ydx.1	+	6	825	c.498G>A	c.(496-498)AAG>AAA	p.K166K	ZNF765_uc002qbm.2_Silent_p.K166K|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AAGTTGTGAAGTCTATCCACG	0.378000												
NLRP12	91662	broad.mit.edu	37	19	54299272	54299272	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54299272C>A	uc002qch.3	-	9	3159	c.2939G>T	c.(2938-2940)TGT>TTT	p.C980F	NLRP12_uc010eqw.2_Missense_Mutation_p.C206F|NLRP12_uc002qci.3_Missense_Mutation_p.C923F|NLRP12_uc002qcj.3_Missense_Mutation_p.C981F|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	980	LRR 6.				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)		TGTGAGGCCACAGCTATCCAG	0.423000												
NLRP12	91662	broad.mit.edu	37	19	54313572	54313572	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54313572C>T	uc002qch.3	-	3	1561	c.1341G>A	c.(1339-1341)CCG>CCA	p.P447P	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.P447P|NLRP12_uc002qcj.3_Silent_p.P447P|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.P447P	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	447	NACHT.				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)		GCGGGGCCCCCGGCTTGGGTT	0.617000												
PRKCG	5582	broad.mit.edu	37	19	54394937	54394937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54394937C>T	uc002qcq.1	+	6	821	c.539C>T	c.(538-540)GCC>GTC	p.A180V	PRKCG_uc010eqz.1_Missense_Mutation_p.A180V|PRKCG_uc010yef.1_Missense_Mutation_p.A180V|PRKCG_uc010yeg.1_Missense_Mutation_p.A180V|PRKCG_uc010yeh.1_Missense_Mutation_p.A67V	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	180	C2.				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)		GTTGGCGAGGCCCGTAACCTA	0.542000												
PRKCG	5582	broad.mit.edu	37	19	54401306	54401306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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	0.493000												
TMC4	147798	broad.mit.edu	37	19	54667579	54667579	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54667579C>A	uc010erf.2	-	8	1304	c.1172G>T	c.(1171-1173)GGG>GTG	p.G391V	TMC4_uc002qdn.2_Missense_Mutation_p.W81C|TMC4_uc002qdo.2_Missense_Mutation_p.G385V	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	391	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTAATTCACCCCAAGCTTCAG	0.577000											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
RDH13	112724	broad.mit.edu	37	19	55556595	55556595	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55556595C>T	uc002qio.3	-	7	1028	c.843G>A	c.(841-843)GCG>GCA	p.A281A	RDH13_uc002qip.2_Silent_p.A210A|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	281							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CGGAAACATCCGCCAGTTCCT	0.647000												
BRSK1	84446	broad.mit.edu	37	19	55812995	55812995	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55812995T>C	uc002qkg.2	+	8	1071	c.794T>C	c.(793-795)ATG>ACG	p.M265T	BRSK1_uc002qkf.2_Missense_Mutation_p.M281T|BRSK1_uc002qkh.2_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	265	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTGAGGGGAATGATCGAAGTG	0.587000												
TMEM190	147744	broad.mit.edu	37	19	55889366	55889366	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55889366T>C	uc002qkt.1	+	5	347	c.329T>C	c.(328-330)CTG>CCG	p.L110P		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	110	Cytoplasmic (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGGGACGTGCTGCATATGCCC	0.711000												
ISOC2	79763	broad.mit.edu	37	19	55966406	55966406	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:55966406C>A	uc002qlb.2	-	5	661	c.487G>T	c.(487-489)GGG>TGG	p.G163W	ISOC2_uc002qla.2_Missense_Mutation_p.G179W|ISOC2_uc002qlc.2_Missense_Mutation_p.G93W	NM_001136201	NP_001129673	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 1	163					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGAATGAGCCCTTCGCTGGTG	0.642000											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FIZ1	84922	broad.mit.edu	37	19	56103953	56103953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56103953G>A	uc002qli.3	-	3	1444	c.1354C>T	c.(1354-1356)CGC>TGC	p.R452C	FIZ1_uc002qlj.3_Missense_Mutation_p.R452C	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	452	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACTCGTGGCGGAAGAACTTG	0.657000												
ZNF581	51545	broad.mit.edu	37	19	56156448	56156448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56156448C>T	uc002qln.2	+	2	1227	c.511C>T	c.(511-513)CGC>TGC	p.R171C	ZNF581_uc002qlq.2_Missense_Mutation_p.R171C|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCTGGGGAACGCCCGTTTCA	0.692000												
NLRP9	338321	broad.mit.edu	37	19	56235376	56235376	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:56235376T>C	uc002qly.2	-	4	2157	c.2129A>G	c.(2128-2130)AAA>AGA	p.K710R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	710						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATTGGATGTTTCAGCGTCTC	0.468000												
ZNF71	58491	broad.mit.edu	37	19	57133862	57133862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57133862G>A	uc002qnm.3	+	3	1445	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACCAGATCGTGCACACCGG	0.642000												
ZNF543	125919	broad.mit.edu	37	19	57838089	57838089	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57838089C>A	uc002qoi.1	+	3	579	c.234C>A	c.(232-234)TCC>TCA	p.S78S		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		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;0.0257)		CCCAAAGCTCCTATCCAGGTA	0.493000												
ZNF772	400720	broad.mit.edu	37	19	57984642	57984642	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:57984642C>A	uc002qot.2	-	5	1731	c.1470G>T	c.(1468-1470)TAG>TAT	p.*490Y	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Nonstop_Mutation_p.*449Y|ZNF772_uc010ygz.1_Nonstop_Mutation_p.*378Y|ZNF772_uc010yha.1_Nonstop_Mutation_p.*436Y|ZNF772_uc002qou.2_Nonstop_Mutation_p.*378Y	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ATCTCCCATCCTAAGGCCTTT	0.478000												
ZNF132	7691	broad.mit.edu	37	19	58945229	58945229	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:58945229A>G	uc002qst.3	-	3	1983	c.1582T>C	c.(1582-1584)TCC>CCC	p.S528P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	528	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ATCAGGCTGGAGCTGCGGCTG	0.498000												
MZF1	7593	broad.mit.edu	37	19	59073500	59073500	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:59073500C>T	uc002qto.2	-	6	2705	c.2144G>A	c.(2143-2145)GGC>GAC	p.G715D	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.G715D	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	715	C2H2-type 13.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GAAGCGGCGGCCACAGTCCTG	0.642000												
SOX11	6664	broad.mit.edu	37	2	5833132	5833132	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:5833132C>T	uc002qyj.2	+	1	334	c.279C>T	c.(277-279)AGC>AGT	p.S93S		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	93	HMG box.				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)		TGAAGGACAGCGAGAAGATCC	0.592000												
GREB1	9687	broad.mit.edu	37	2	11777871	11777871	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:11777871G>A	uc002rbk.1	+	31	5676	c.5376G>A	c.(5374-5376)CCG>CCA	p.P1792P	GREB1_uc002rbp.1_Silent_p.P790P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1792						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGTCGTGCCGGCCCAGTACA	0.657000												
LPIN1	23175	broad.mit.edu	37	2	11944581	11944581	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:11944581C>T	uc010yjn.1	+	16	2212	c.1938C>T	c.(1936-1938)GAC>GAT	p.D646D	LPIN1_uc010yjm.1_Silent_p.D731D|LPIN1_uc002rbt.2_Silent_p.D646D|LPIN1_uc010yjo.1_Silent_p.D147D	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	646	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCCCAACGACGTGGTTTTCA	0.463000												
NT5C1B	93034	broad.mit.edu	37	2	18765871	18765871	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:18765871T>C	uc002rcz.2	-	5	916	c.812A>G	c.(811-813)CAG>CGG	p.Q271R	NT5C1B_uc002rcy.2_Missense_Mutation_p.Q271R|NT5C1B_uc010exr.2_Missense_Mutation_p.Q213R|NT5C1B_uc010yju.1_Missense_Mutation_p.Q211R|NT5C1B_uc002rda.2_Missense_Mutation_p.Q211R|NT5C1B_uc010yjv.1_Missense_Mutation_p.Q288R|NT5C1B_uc010yjw.1_Missense_Mutation_p.Q254R|NT5C1B_uc010exs.2_Missense_Mutation_p.Q273R|NT5C1B_uc002rdb.1_Missense_Mutation_p.Q63R	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	271	Poly-Gln.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTCCTCCCGCTGCTGCTGCTG	0.667000												
GDF7	151449	broad.mit.edu	37	2	20870956	20870956	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:20870956C>T	uc002rdz.1	+	2	1700	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	375					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACTACGAGGCGTACCACTGC	0.577000												
APOB	338	broad.mit.edu	37	2	21228488	21228488	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:21228488A>G	uc002red.2	-	26	11380	c.11252T>C	c.(11251-11253)GTC>GCC	p.V3751A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3751					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTAAATGGGACATGGAACGT	0.383000												
SLC5A6	8884	broad.mit.edu	37	2	27430333	27430333	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:27430333C>T	uc002rjd.2	-	3	577	c.186G>A	c.(184-186)GCG>GCA	p.A62A	SLC5A6_uc010eyv.1_Silent_p.A62A|SLC5A6_uc002rje.1_Silent_p.A62A	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	62					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)	TTTTGCGGTCCGCCATCAGCA	0.602000												
PLB1	151056	broad.mit.edu	37	2	28855889	28855889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:28855889G>A	uc002rmb.1	+	56	4081	c.4081G>A	c.(4081-4083)GCA>ACA	p.A1361T	PLB1_uc010ezj.1_Missense_Mutation_p.A1350T|PLB1_uc002rme.1_Missense_Mutation_p.A326T|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1361	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				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)					GATGGCCATCGCACTCTGGAA	0.552000												
BIRC6	57448	broad.mit.edu	37	2	32695244	32695244	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:32695244T>C	uc010ezu.2	+	31	6490	c.6356T>C	c.(6355-6357)ATG>ACG	p.M2119T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2119					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGGTCTTCATGTTACTTTCC	0.284000												
SIX2	10736	broad.mit.edu	37	2	45236072	45236072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:45236072G>A	uc002ruo.2	-	1	471	c.178C>T	c.(178-180)CGC>TGC	p.R60C	SIX2_uc002rup.2_Missense_Mutation_p.R60C	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	60						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGTTGCCGCGGTGGAAGGCC	0.627000												
PRKCE	5581	broad.mit.edu	37	2	46203633	46203633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:46203633G>A	uc002rut.2	+	3	675	c.478G>A	c.(478-480)GTC>ATC	p.V160I		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	160					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)			GCAGGGGGCCGTCAGGCGCAG	0.587000												
KLRAQ1	129285	broad.mit.edu	37	2	48722901	48722901	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:48722901T>C	uc002rwm.2	+	16	1868	c.1683T>C	c.(1681-1683)CTT>CTC	p.L561L	KLRAQ1_uc002rwj.2_Silent_p.L561L|KLRAQ1_uc002rwl.2_Silent_p.L515L|KLRAQ1_uc002rwk.2_Silent_p.L561L|KLRAQ1_uc010yok.1_Intron	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	561	Potential.									ovary(1)	1						GAGAAGGCCTTGCACAGCAAG	0.413000												
NRXN1	9378	broad.mit.edu	37	2	50280724	50280724	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:50280724A>G	uc010fbp.2	-	4	1425	c.618T>C	c.(616-618)CGT>CGC	p.R206R	NRXN1_uc002rxb.3_Silent_p.R943R|NRXN1_uc010fbq.2_Silent_p.R1311R|NRXN1_uc002rxe.3_Silent_p.R1241R	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	206	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTGAGCTGACGCCCTGTAA	0.413000												
NRXN1	9378	broad.mit.edu	37	2	51255184	51255184	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:51255184G>A	uc010fbq.2	-	2	1705	c.228C>T	c.(226-228)TGC>TGT	p.C76C	NRXN1_uc002rxe.3_Silent_p.C76C|NRXN1_uc002rxd.1_Silent_p.C76C	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCAGGAAGTCGCAGAAGCCCT	0.652000												
SPTBN1	6711	broad.mit.edu	37	2	54876770	54876770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:54876770C>T	uc002rxu.2	+	26	5470	c.5221C>T	c.(5221-5223)CGG>TGG	p.R1741W	SPTBN1_uc002rxx.2_Missense_Mutation_p.R1728W|SPTBN1_uc002rxy.2_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1741	Interaction with ANK2.|Spectrin 14.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGAACGATTCCGGGAGTTTGC	0.507000												
REL	5966	broad.mit.edu	37	2	61148969	61148969	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61148969T>C	uc002sam.1	+	11	1383	c.1159T>C	c.(1159-1161)TAC>CAC	p.Y387H	REL_uc002san.1_Missense_Mutation_p.Y355H	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	387					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGCAGAATCCTACTATCCCTC	0.478000			A		Hodgkin Lymphoma							
USP34	9736	broad.mit.edu	37	2	61575065	61575065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61575065C>T	uc002sbe.2	-	15	2247	c.2225G>A	c.(2224-2226)CGA>CAA	p.R742Q		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	742					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)			AATAAATTGTCGACAATTAAA	0.318000												
XPO1	7514	broad.mit.edu	37	2	61711237	61711237	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:61711237A>C	uc002sbj.2	-	21	3240	c.2512T>G	c.(2512-2514)TTT>GTT	p.F838V	XPO1_uc010fcl.2_Missense_Mutation_p.F834V|XPO1_uc010ypn.1_Missense_Mutation_p.F834V|XPO1_uc002sbk.2_Missense_Mutation_p.F399V|XPO1_uc002sbg.2_Missense_Mutation_p.F35V|XPO1_uc002sbh.2_Missense_Mutation_p.F485V	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	838					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TATTCTTCAAAGTCCTAAAAA	0.368000												
AFTPH	54812	broad.mit.edu	37	2	64779393	64779393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:64779393G>A	uc002sdc.2	+	1	817	c.785G>A	c.(784-786)CGG>CAG	p.R262Q	AFTPH_uc002scz.2_Missense_Mutation_p.R262Q|AFTPH_uc002sda.2_Missense_Mutation_p.R262Q|AFTPH_uc002sdb.2_Missense_Mutation_p.R262Q	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	262					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						CTAACCATTCGGGAAAACAAT	0.348000												
CEP68	23177	broad.mit.edu	37	2	65298713	65298713	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:65298713C>A	uc002sdl.3	+	3	697	c.483C>A	c.(481-483)CCC>CCA	p.P161P	CEP68_uc002sdj.2_Silent_p.P161P|CEP68_uc010yqb.1_Silent_p.P161P|CEP68_uc002sdk.3_Silent_p.P161P|CEP68_uc010yqc.1_Silent_p.P161P|CEP68_uc010yqd.1_Silent_p.P161P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	161					centrosome organization	centrosome				skin(1)	1						CAGATTTGCCCCAGGCACTGG	0.562000												
ADD2	119	broad.mit.edu	37	2	70890788	70890788	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:70890788G>A	uc002sgz.2	-	16	2415	c.1950C>T	c.(1948-1950)AAC>AAT	p.N650N	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Silent_p.N344N|ADD2_uc002sgx.2_3'UTR	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	650					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CCTCCCTCCCGTTGACCACCA	0.517000												
DYSF	8291	broad.mit.edu	37	2	71825778	71825778	+	Missense_Mutation	SNP	C	C	T	rs140684741	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71825778C>T	uc002sie.2	+	33	3981	c.3605C>T	c.(3604-3606)ACG>ATG	p.T1202M	DYSF_uc010feg.2_Missense_Mutation_p.T1233M|DYSF_uc010feh.2_Missense_Mutation_p.T1188M|DYSF_uc002sig.3_Missense_Mutation_p.T1188M|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T1202M|DYSF_uc010fef.2_Missense_Mutation_p.T1219M|DYSF_uc010fei.2_Missense_Mutation_p.T1219M|DYSF_uc010fek.2_Missense_Mutation_p.T1220M|DYSF_uc010fej.2_Missense_Mutation_p.T1189M|DYSF_uc010fel.2_Missense_Mutation_p.T1189M|DYSF_uc010feo.2_Missense_Mutation_p.T1234M|DYSF_uc010fem.2_Missense_Mutation_p.T1203M|DYSF_uc010fen.2_Missense_Mutation_p.T1220M|DYSF_uc002sif.2_Missense_Mutation_p.T1203M|DYSF_uc010yqy.1_Missense_Mutation_p.T83M	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1202	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TGGGACCAGACGCTCATCTTC	0.572000												
DYSF	8291	broad.mit.edu	37	2	71908139	71908139	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71908139G>T	uc002sie.2	+	53	6331	c.5955G>T	c.(5953-5955)CTG>CTT	p.L1985L	DYSF_uc010feg.2_Silent_p.L2016L|DYSF_uc010feh.2_Silent_p.L1992L|DYSF_uc002sig.3_Silent_p.L1971L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L2006L|DYSF_uc010fef.2_Silent_p.L2023L|DYSF_uc010fei.2_Silent_p.L2002L|DYSF_uc010fek.2_Silent_p.L2003L|DYSF_uc010fej.2_Silent_p.L1993L|DYSF_uc010fel.2_Silent_p.L1972L|DYSF_uc010feo.2_Silent_p.L2017L|DYSF_uc010fem.2_Silent_p.L2007L|DYSF_uc010fen.2_Silent_p.L2024L|DYSF_uc002sif.2_Silent_p.L1986L|DYSF_uc010yqy.1_Silent_p.L866L|DYSF_uc010yqz.1_Silent_p.L746L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1985	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGGGCAAGCTGGAAATGACCT	0.567000												
FBXO41	150726	broad.mit.edu	37	2	73491114	73491114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:73491114C>T	uc002sjb.1	-	7	2057	c.2057G>A	c.(2056-2058)CGG>CAG	p.R686Q		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	625						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						TCCCCGCTGCCGGGGCTTCAA	0.622000												
ALMS1	7840	broad.mit.edu	37	2	73677596	73677596	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:73677596A>G	uc002sje.1	+	10	4056	c.3945A>G	c.(3943-3945)TCA>TCG	p.S1315S	ALMS1_uc002sjf.1_Silent_p.S1271S|ALMS1_uc002sjg.2_Silent_p.S701S|ALMS1_uc002sjh.1_Silent_p.S701S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1313	17.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGAATGTTTCAGCGGTTCCTG	0.443000												
TACR1	6869	broad.mit.edu	37	2	75347720	75347720	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:75347720C>T	uc002sng.2	-	2	1149	c.564G>A	c.(562-564)CCG>CCA	p.P188P	TACR1_uc002snh.2_Silent_p.P188P	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	188	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AAATCTTGTTCGGATGCTCTG	0.537000												
TGOLN2	10618	broad.mit.edu	37	2	85554669	85554669	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:85554669A>G	uc010fgd.1	-	2	475	c.186T>C	c.(184-186)ACT>ACC	p.T62T	TGOLN2_uc002soz.2_Silent_p.T62T|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Silent_p.T62T|TGOLN2_uc002spc.1_Silent_p.T62T	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	62	Extracellular (Potential).|14 X 14 AA tandem repeats.|1.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						TGTCTTTTGGAGTCTGCGGCT	0.602000												
POLR1A	25885	broad.mit.edu	37	2	86258589	86258589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:86258589G>A	uc002sqs.2	-	30	4821	c.4442C>T	c.(4441-4443)ACG>ATG	p.T1481M	POLR1A_uc010ytb.1_Missense_Mutation_p.T847M	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1481					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						CCGGGGCTGCGTCAGGAGGGC	0.637000												
POLR1A	25885	broad.mit.edu	37	2	86327260	86327260	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:86327260T>C	uc002sqs.2	-	2	492	c.113A>G	c.(112-114)TAC>TGC	p.Y38C	POLR1A_uc002sqv.2_Missense_Mutation_p.Y38C	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	38					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						GCTGTCCAGGTATCGAGGGTT	0.483000												
GPAT2	150763	broad.mit.edu	37	2	96691753	96691753	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:96691753A>G	uc002svf.2	-	12	1386	c.1163T>C	c.(1162-1164)ATC>ACC	p.I388T	GPAT2_uc002svd.2_Missense_Mutation_p.I201T|GPAT2_uc002sve.2_Missense_Mutation_p.I190T|GPAT2_uc002svg.2_Missense_Mutation_p.I261T|GPAT2_uc010yuh.1_Missense_Mutation_p.I317T|GPAT2_uc002svh.2_Missense_Mutation_p.I388T	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	388					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0						GGCACTGACGATGTATTCCTG	0.612000												
ARID5A	10865	broad.mit.edu	37	2	97217956	97217956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:97217956G>A	uc002swe.2	+	7	1791	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	ARID5A_uc010yuq.1_Missense_Mutation_p.R512H|ARID5A_uc002swf.2_Missense_Mutation_p.R400H|ARID5A_uc002swg.2_Missense_Mutation_p.R512H	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	564					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						AGTGCCCTCCGCCACAGACTT	0.662000												
SEMA4C	54910	broad.mit.edu	37	2	97530066	97530066	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:97530066C>T	uc002sxh.3	-	10	1176	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	SEMA4C_uc002sxf.3_5'Flank|SEMA4C_uc002sxe.2_5'Flank|SEMA4C_uc002sxg.3_Missense_Mutation_p.R392Q	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	339	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						CTCAAACACCCGCTGGATCTC	0.592000												
ZAP70	7535	broad.mit.edu	37	2	98340512	98340512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:98340512G>A	uc002syd.1	+	3	220	c.13G>A	c.(13-15)GCG>ACG	p.A5T	ZAP70_uc010yvf.1_Missense_Mutation_p.A5T|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	5					immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GCCAGACCCCGCGGCGCACCT	0.687000												
VWA3B	200403	broad.mit.edu	37	2	98737906	98737906	+	Silent	SNP	C	C	T	rs151050857	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:98737906C>T	uc002syo.2	+	5	951	c.687C>T	c.(685-687)GCC>GCT	p.A229A	VWA3B_uc010yvh.1_Silent_p.A79A|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.A229A|VWA3B_uc002syn.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	229										ovary(3)|large_intestine(2)|skin(1)	6						TGCTGGAAGCCGGGAGAGACA	0.562000												
INPP4A	3631	broad.mit.edu	37	2	99155399	99155399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:99155399C>T	uc002syy.2	+	9	1018	c.625C>T	c.(625-627)CGA>TGA	p.R209*	INPP4A_uc010yvj.1_Nonsense_Mutation_p.R209*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.R209*|INPP4A_uc002syx.2_Nonsense_Mutation_p.R209*|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	209					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						GTTAGGAATCCGATCCAAATA	0.448000												
AFF3	3899	broad.mit.edu	37	2	100170848	100170848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:100170848C>T	uc002tag.2	-	23	3720	c.3484G>A	c.(3484-3486)GTC>ATC	p.V1162I	AFF3_uc002taf.2_Missense_Mutation_p.V1187I	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1162					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						GTGATGCTGACGTGGTTGGCC	0.642000												
NPAS2	4862	broad.mit.edu	37	2	101607279	101607279	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:101607279G>A	uc002tap.1	+	19	2342	c.2056G>A	c.(2056-2058)GGG>AGG	p.G686R	NPAS2_uc010yvt.1_Missense_Mutation_p.G751R|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	686					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						CATGATGCCCGGGTCCTGTGA	0.607000												
ST6GAL2	84620	broad.mit.edu	37	2	107459775	107459775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:107459775C>T	uc002tdq.2	-	2	778	c.659G>A	c.(658-660)CGC>CAC	p.R220H	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R220H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R220H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	220	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CTTCTGCAGGCGCGGGTTCAG	0.647000												
ANKRD57	65124	broad.mit.edu	37	2	110373095	110373095	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:110373095C>T	uc002tfb.2	+	1	1185	c.1029C>T	c.(1027-1029)ACC>ACT	p.T343T	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	343	ANK 2.										0						GGGGTTACACCGCCCTGCACT	0.622000												
ANAPC1	64682	broad.mit.edu	37	2	112620029	112620029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:112620029G>A	uc002thi.2	-	10	1446	c.1199C>T	c.(1198-1200)ACG>ATG	p.T400M		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	400					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						AATTGGCTCCGTTTCTGGTGC	0.328000												
MERTK	10461	broad.mit.edu	37	2	112686911	112686911	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:112686911G>A	uc002thk.1	+	2	398	c.276G>A	c.(274-276)CCG>CCA	p.P92P	MERTK_uc002thl.1_Intron	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	92	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						AGCCCCTACCGCCTCTTGCCT	0.453000												
POLR1B	84172	broad.mit.edu	37	2	113306901	113306901	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:113306901A>G	uc002thw.2	+	4	1130	c.550A>G	c.(550-552)ATG>GTG	p.M184V	POLR1B_uc010fkn.2_Missense_Mutation_p.M128V|POLR1B_uc002thx.2_Missense_Mutation_p.M45V|POLR1B_uc010fko.2_Missense_Mutation_p.M184V|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.M222V|POLR1B_uc002thy.2_Missense_Mutation_p.M45V|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	184					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						AATGTTGATTATGCCTCGGAG	0.363000												
INSIG2	51141	broad.mit.edu	37	2	118860856	118860856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:118860856C>T	uc002tlk.2	+	3	534	c.328C>T	c.(328-330)CGG>TGG	p.R110W	INSIG2_uc010yye.1_Missense_Mutation_p.R2W|INSIG2_uc002tll.2_Missense_Mutation_p.R2W	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	110					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						CAGTGTAATGCGGTGTGTAGC	0.393000												
PCDP1	200373	broad.mit.edu	37	2	120366155	120366155	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:120366155C>T	uc002tmb.2	+	13	1445	c.353C>T	c.(352-354)GCC>GTC	p.A118V	PCDP1_uc010yyq.1_Missense_Mutation_p.A248V	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	404						cilium	calmodulin binding				0	Colorectal(110;0.196)					AAAGCATGTGCCAAATATAAG	0.373000												
INHBB	3625	broad.mit.edu	37	2	121107211	121107211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:121107211G>A	uc002tmn.2	+	2	1031	c.985G>A	c.(985-987)GGG>AGG	p.G329R		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	329					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CGGCTACTACGGGAACTACTG	0.622000												
CLASP1	23332	broad.mit.edu	37	2	122144775	122144775	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:122144775C>T	uc002tnc.2	-	31	3687	c.3297G>A	c.(3295-3297)ACG>ACA	p.T1099T	CLASP1_uc010yyv.1_Silent_p.T184T|CLASP1_uc002tmz.2_Silent_p.T184T|CLASP1_uc002tna.2_Silent_p.T184T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Silent_p.T1079T|CLASP1_uc010yza.1_Silent_p.T1071T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_Silent_p.T40T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1099					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)					GTCGGGAGGGCGTCCGGCCAA	0.522000												
NCKAP5	344148	broad.mit.edu	37	2	133542088	133542088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:133542088G>A	uc002ttp.2	-	14	2670	c.2296C>T	c.(2296-2298)CAA>TAA	p.Q766*	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	766							protein binding				0						TGAGGATTTTGTGTCACTGTC	0.423000												
MGAT5	4249	broad.mit.edu	37	2	135095925	135095925	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:135095925C>T	uc002ttv.1	+	6	886	c.741C>T	c.(739-741)GAC>GAT	p.D247D		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	247	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAATGGCTGACGCATGGATCC	0.428000												
RAB3GAP1	22930	broad.mit.edu	37	2	135870727	135870727	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:135870727G>A	uc002tuj.2	+	6	394	c.369G>A	c.(367-369)GGG>GGA	p.G123G	RAB3GAP1_uc010fnf.2_Silent_p.G123G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	123						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TAAGGTATGGGCTACGTGAGT	0.403000												
LCT	3938	broad.mit.edu	37	2	136567501	136567501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:136567501C>T	uc002tuu.1	-	8	2427	c.2416G>A	c.(2416-2418)GAA>AAA	p.E806K		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	806	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGGGCCTTCGAAGCCATCA	0.448000												
EPC2	26122	broad.mit.edu	37	2	149511608	149511608	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:149511608T>C	uc010zbt.1	+	4	599	c.572T>C	c.(571-573)ATT>ACT	p.I191T		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	191					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CCATCCCTCATTCCTCAGATA	0.408000												
EPC2	26122	broad.mit.edu	37	2	149542480	149542480	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:149542480C>T	uc010zbt.1	+	13	2288	c.2261C>T	c.(2260-2262)TCG>TTG	p.S754L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	754					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAGCACCATCGCCAACAGCC	0.483000												
NEB	4703	broad.mit.edu	37	2	152500522	152500522	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:152500522T>C	uc010fnx.2	-	57	7957	c.7766A>G	c.(7765-7767)TAC>TGC	p.Y2589C		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2589	Nebulin 69.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCCTTCTTGTACTCCCTGTC	0.552000												
PRPF40A	55660	broad.mit.edu	37	2	153551074	153551074	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:153551074G>A	uc002tyi.2	-	3	373	c.360C>T	c.(358-360)TCC>TCT	p.S120S	PRPF40A_uc002tyh.3_Silent_p.S93S|PRPF40A_uc010zcd.1_Silent_p.S93S|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.S120S	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	120					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CAGGCTGCATGGAAGCCTGAG	0.333000												
PRPF40A	55660	broad.mit.edu	37	2	153573824	153573824	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:153573824C>T	uc002tyi.2	-	1	98	c.85G>A	c.(85-87)GGG>AGG	p.G29R	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Missense_Mutation_p.G29R	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	29					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						CTCCGCTCCCCGTCCCCAGGA	0.657000												
WDSUB1	151525	broad.mit.edu	37	2	160104952	160104952	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:160104952A>G	uc002uaj.3	-	10	1353	c.1204T>C	c.(1204-1206)TCA>CCA	p.S402P	WDSUB1_uc002uak.3_Missense_Mutation_p.S402P|WDSUB1_uc002ual.3_Missense_Mutation_p.S402P|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.S310P	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	402						ubiquitin ligase complex	ubiquitin-protein ligase activity				0						GGAATTCCTGAAGAAAGGGAT	0.403000												
ITGB6	3694	broad.mit.edu	37	2	161052047	161052047	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:161052047G>A	uc002ubh.2	-	4	442	c.426C>T	c.(424-426)TCC>TCT	p.S142S	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.S142S|ITGB6_uc010zcq.1_Silent_p.S100S|ITGB6_uc010fov.1_Silent_p.S142S	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	142	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						CCATGGAGGCGGAGAGGTCCA	0.522000												
SCN3A	6328	broad.mit.edu	37	2	165972001	165972001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165972001C>T	uc002ucx.2	-	19	3970	c.3478G>A	c.(3478-3480)GAA>AAA	p.E1160K	SCN3A_uc002ucy.2_Missense_Mutation_p.E1111K|SCN3A_uc002ucz.2_Missense_Mutation_p.E1111K|SCN3A_uc002uda.1_Missense_Mutation_p.E980K|SCN3A_uc002udb.1_Missense_Mutation_p.E980K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1160						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	AGGTCTTCTTCGGGTTCAGTT	0.418000												
SCN2A	6326	broad.mit.edu	37	2	166237172	166237172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166237172G>A	uc002udc.2	+	24	4669	c.4379G>A	c.(4378-4380)GGT>GAT	p.G1460D	SCN2A_uc002udd.2_Missense_Mutation_p.G1460D|SCN2A_uc002ude.2_Missense_Mutation_p.G1460D	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1460	Helical; Name=S6 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)	ATTATTTTTGGTTCATTCTTT	0.289000												
TTC21B	79809	broad.mit.edu	37	2	166755270	166755270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166755270G>A	uc002udk.2	-	22	3009	c.2876C>T	c.(2875-2877)GCT>GTT	p.A959V		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	959	TPR 15.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CATGAGATCAGCCATCATCTA	0.308000												
TTC21B	79809	broad.mit.edu	37	2	166756333	166756333	+	Missense_Mutation	SNP	G	G	A	rs151227843	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:166756333G>A	uc002udk.2	-	21	2948	c.2815C>T	c.(2815-2817)CGG>TGG	p.R939W		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	939	TPR 14.		R -> W (functionally null mutation in vitro).|R -> Q (hypomorphic variant in vitro).			cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GCACACTGCCGCAGGCAGGAA	0.443000												
XIRP2	129446	broad.mit.edu	37	2	168107104	168107104	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:168107104G>A	uc002udx.2	+	8	9220	c.9202G>A	c.(9202-9204)GAA>AAA	p.E3068K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2893K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2846K|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2893					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TAAAAATAGTGAACAGAAAGA	0.378000												
XIRP2	129446	broad.mit.edu	37	2	168107330	168107330	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:168107330A>G	uc002udx.2	+	8	9446	c.9428A>G	c.(9427-9429)CAG>CGG	p.Q3143R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2968R|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2921R|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2968					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAGCTTTCTCAGTCCCCTAAA	0.473000												
MYO3B	140469	broad.mit.edu	37	2	171399449	171399449	+	Silent	SNP	C	C	T	rs141570535	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:171399449C>T	uc002ufy.2	+	31	3752	c.3609C>T	c.(3607-3609)TGC>TGT	p.C1203C	MYO3B_uc010fqb.1_Missense_Mutation_p.A1231V|MYO3B_uc002ufz.2_Silent_p.C1176C|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1203					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CAAAAGGGTGCGATATCTTCG	0.358000												
EVX2	344191	broad.mit.edu	37	2	176948462	176948462	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:176948462C>A	uc010zeu.1	-	1	229	c.43G>T	c.(43-45)GGG>TGG	p.G15W		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CTGTGCAGCCCTCTCTCCATC	0.522000												
TTN	7273	broad.mit.edu	37	2	179396160	179396160	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179396160G>A	uc010zfg.1	-	307	97702	c.97478C>T	c.(97477-97479)GCG>GTG	p.A32493V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26188V|TTN_uc010zfi.1_Missense_Mutation_p.A26121V|TTN_uc010zfj.1_Missense_Mutation_p.A25996V|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33420							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)			AACAGCATACGCCTCTGTTCT	0.478000												
TTN	7273	broad.mit.edu	37	2	179401713	179401713	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179401713T>C	uc010zfg.1	-	305	92643	c.92419A>G	c.(92419-92421)AGT>GGT	p.S30807G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24502G|TTN_uc010zfi.1_Missense_Mutation_p.S24435G|TTN_uc010zfj.1_Missense_Mutation_p.S24310G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31734							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)			AGAGGGTCACTGATGCCGAAA	0.433000												
TTN	7273	broad.mit.edu	37	2	179402412	179402412	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179402412T>C	uc010zfg.1	-	304	92042	c.91818A>G	c.(91816-91818)ATA>ATG	p.I30606M	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I24301M|TTN_uc010zfi.1_Missense_Mutation_p.I24234M|TTN_uc010zfj.1_Missense_Mutation_p.I24109M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31533							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)			CATTGGTGGCTATGCAGGTAT	0.433000												
TTN	7273	broad.mit.edu	37	2	179443562	179443562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179443562G>A	uc010zfg.1	-	269	60715	c.60491C>T	c.(60490-60492)TCG>TTG	p.S20164L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S13859L|TTN_uc010zfi.1_Missense_Mutation_p.S13792L|TTN_uc010zfj.1_Missense_Mutation_p.S13667L|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21091							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)			AATTGGCTCCGATTTCAGGCC	0.418000												
TTN	7273	broad.mit.edu	37	2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179477175C>T	uc010zfg.1	-	215	42597	c.42373G>A	c.(42373-42375)GTC>ATC	p.V14125I	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7820I|TTN_uc010zfi.1_Missense_Mutation_p.V7753I|TTN_uc010zfj.1_Missense_Mutation_p.V7628I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15052							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)			TTTCGCCTGACGTCTCTCTTT	0.463000												
TTN	7273	broad.mit.edu	37	2	179544075	179544075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:179544075G>A	uc010zfg.1	-	139	30225	c.30001C>T	c.(30001-30003)CCA>TCA	p.P10001S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6662S|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10928							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)			CCTTTTGCTGGCGGAGGCTTC	0.408000												
GULP1	51454	broad.mit.edu	37	2	189449083	189449083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:189449083G>A	uc010fru.2	+	10	1162	c.701G>A	c.(700-702)CGC>CAC	p.R234H	GULP1_uc002uqd.2_Missense_Mutation_p.R234H|GULP1_uc010zfw.1_Missense_Mutation_p.R131H|GULP1_uc002uqf.2_Missense_Mutation_p.R234H|GULP1_uc002uqg.2_Missense_Mutation_p.R234H|GULP1_uc002uqh.1_Missense_Mutation_p.R54H	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	234					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATGCCTACTCGCAATGGCACA	0.413000												
SDPR	8436	broad.mit.edu	37	2	192711451	192711451	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:192711451G>A	uc002utb.2	-	1	531	c.201C>T	c.(199-201)AAC>AAT	p.N67N		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	67	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CGTCTAGCATGTTCACCAGCT	0.577000												
SPATS2L	26010	broad.mit.edu	37	2	201342603	201342603	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:201342603G>T	uc002uvn.3	+	13	1878	c.1526G>T	c.(1525-1527)CGG>CTG	p.R509L	SPATS2L_uc010fst.2_Missense_Mutation_p.R509L|SPATS2L_uc002uvo.3_Missense_Mutation_p.R449L|SPATS2L_uc002uvp.3_Missense_Mutation_p.R509L|SPATS2L_uc002uvq.3_Missense_Mutation_p.R440L|SPATS2L_uc002uvr.3_Missense_Mutation_p.R509L|SPATS2L_uc010zhc.1_Missense_Mutation_p.R539L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	SPATS2-like protein isoform a	509						cytoplasm|nucleolus				ovary(2)|pancreas(1)	3						GAAAAGCCCCGGCGAAGGCAG	0.597000												
FAM126B	285172	broad.mit.edu	37	2	201857061	201857061	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:201857061T>G	uc002uws.3	-	10	962	c.774A>C	c.(772-774)GAA>GAC	p.E258D	FAM126B_uc002uwu.2_Missense_Mutation_p.E176D|FAM126B_uc002uwv.2_Missense_Mutation_p.E258D	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	258						intracellular				ovary(1)	1						CATCAAGAACTTCCTGGCCAA	0.338000												
ICOS	29851	broad.mit.edu	37	2	204820440	204820440	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:204820440T>C	uc002vam.2	+	2	207	c.140T>C	c.(139-141)ATT>ACT	p.I47T	ICOS_uc010zip.1_Missense_Mutation_p.I47T|ICOS_uc010fua.2_Missense_Mutation_p.I47T	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	47	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	extracellular region					0						TATCCTGACATTGTCCAGCAA	0.373000												
KLF7	8609	broad.mit.edu	37	2	207988869	207988869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:207988869C>T	uc002vbz.1	-	2	684	c.362G>A	c.(361-363)AGC>AAC	p.S121N	KLF7_uc002vca.1_Missense_Mutation_p.S121N|KLF7_uc010zix.1_Missense_Mutation_p.S93N	NM_003709	NP_003700	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	121					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			central_nervous_system(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GGCTGTGTAGCTGTCTAGAGA	0.572000												
C2orf67	151050	broad.mit.edu	37	2	210887719	210887719	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:210887719T>A	uc002vds.2	-	15	3126	c.2918A>T	c.(2917-2919)TAC>TTC	p.Y973F	C2orf67_uc002vdt.2_Missense_Mutation_p.Y931F	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	973										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)		AAAGGTTTTGTATTCTTCCAT	0.388000												
FN1	2335	broad.mit.edu	37	2	216245649	216245649	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:216245649A>G	uc002vfa.2	-	33	5585	c.5319T>C	c.(5317-5319)GGT>GGC	p.G1773G	FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Silent_p.G1773G|FN1_uc002vfe.2_Silent_p.G1682G|FN1_uc002vff.2_Silent_p.G1682G|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Silent_p.G1773G|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Silent_p.G135G|FN1_uc010fvd.1_Intron	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1773	Heparin-binding 2.|Fibronectin type-III 13.				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)	TGTCTTCTTCACCATCAGGTG	0.542000												
WNT6	7475	broad.mit.edu	37	2	219736388	219736388	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:219736388G>A	uc002vjc.1	+	3	698	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	161					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cgggcTCCCCGGAAGGCAGCG	0.443000												
CCDC108	255101	broad.mit.edu	37	2	219878239	219878239	+	Splice_Site	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:219878239A>G	uc002vjl.1	-	23	3930	c.3846_splice	c.e23+1	p.L1282_splice		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1							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)		CTGGGGCCTCACCAGGATCTC	0.597000												
ACCN4	55515	broad.mit.edu	37	2	220379756	220379756	+	Missense_Mutation	SNP	G	G	A	rs115934162	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220379756G>A	uc002vma.2	+	1	705	c.691G>A	c.(691-693)GCT>ACT	p.A231T	ACCN4_uc010fwi.1_Missense_Mutation_p.A231T|ACCN4_uc010fwj.1_Missense_Mutation_p.A231T|ACCN4_uc002vly.1_Missense_Mutation_p.A231T|ACCN4_uc002vlz.2_Missense_Mutation_p.A231T|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	231	Extracellular (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		AATGGACCCCGCTGCCCCAGC	0.682000												
OBSL1	23363	broad.mit.edu	37	2	220421318	220421318	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220421318G>A	uc010fwk.2	-	13	4251	c.4194C>T	c.(4192-4194)GTC>GTT	p.V1398V	OBSL1_uc002vmh.1_Silent_p.V297V|OBSL1_uc010zli.1_Silent_p.V205V|OBSL1_uc010fwl.1_Silent_p.V873V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1398	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGAGTGACGACGGCCCCAT	0.617000												
STK11IP	114790	broad.mit.edu	37	2	220471013	220471013	+	Splice_Site	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220471013G>A	uc002vml.2	+	10	1021	c.978_splice	c.e10+1	p.G326_splice	STK11IP_uc010zlk.1_Missense_Mutation_p.V316M|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Splice_Site_p.G315_splice	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein						protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTACTGGCGTGAGTGATCG	0.627000											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SLC4A3	6508	broad.mit.edu	37	2	220505562	220505562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:220505562G>A	uc002vmp.3	+	22	3768	c.3499G>A	c.(3499-3501)GCA>ACA	p.A1167T	SLC4A3_uc002vmo.3_Missense_Mutation_p.A1194T|SLC4A3_uc010fwm.2_Missense_Mutation_p.A717T	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1167	Membrane (anion exchange).|Helical; (Potential).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCATCGCACTGCTCTG	0.652000												
FAM124B	79843	broad.mit.edu	37	2	225266244	225266244	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:225266244C>A	uc002vnx.2	-	1	468	c.242G>T	c.(241-243)AGG>ATG	p.R81M	FAM124B_uc002vnw.2_Missense_Mutation_p.R81M	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	81							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GCGAAATAGCCTATCCTCTCC	0.562000												
TRIP12	9320	broad.mit.edu	37	2	230655844	230655844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:230655844C>T	uc002vpw.1	-	29	4423	c.4314G>A	c.(4312-4314)TGG>TGA	p.W1438*	TRIP12_uc002vpx.1_Nonsense_Mutation_p.W1486*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.W1168*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1438					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)		TCTTACCGTGCCATAACTCAT	0.373000												
TRPM8	79054	broad.mit.edu	37	2	234835263	234835263	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:234835263C>T	uc002vvh.2	+	2	121	c.81C>T	c.(79-81)AGC>AGT	p.S27S	TRPM8_uc010fyj.2_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	27	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTACTCCAGCGCGTCTCGGA	0.507000												
AGAP1	116987	broad.mit.edu	37	2	237029036	237029036	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:237029036C>T	uc002vvs.2	+	17	2910	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V	AGAP1_uc002vvt.2_Missense_Mutation_p.A719V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	772	ANK 1.				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						GGCCGCACGGCGCTGCATCTG	0.711000												
COL6A3	1293	broad.mit.edu	37	2	238277416	238277416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:238277416G>A	uc002vwl.2	-	10	4975	c.4690C>T	c.(4690-4692)CGT>TGT	p.R1564C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1358C|COL6A3_uc010znj.1_Missense_Mutation_p.R957C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1564	VWFA 8.|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)		CCCGAGGAACGGATCACCTGG	0.587000												
ILKAP	80895	broad.mit.edu	37	2	239082212	239082212	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:239082212G>A	uc002vxv.2	-	10	1049	c.919C>T	c.(919-921)CCC>TCC	p.P307S	ILKAP_uc010zns.1_Missense_Mutation_p.P239S|ILKAP_uc002vxw.2_Missense_Mutation_p.P187S	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	307	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGATGTCGGGCACAGAGGTG	0.542000												
PER2	8864	broad.mit.edu	37	2	239162216	239162216	+	Silent	SNP	G	G	A	rs146565410		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:239162216G>A	uc002vyc.2	-	19	2685	c.2448C>T	c.(2446-2448)CCC>CCT	p.P816P	PER2_uc010znv.1_Silent_p.P816P	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	816					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)		GGGCGGACACGGGCCCCCCAG	0.602000												
RNPEPL1	57140	broad.mit.edu	37	2	241516125	241516125	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:241516125A>G	uc002vzi.2	+	9	1584	c.991A>G	c.(991-993)ACC>GCC	p.T331A	RNPEPL1_uc010fzf.2_Missense_Mutation_p.T237A|RNPEPL1_uc002vzj.2_5'UTR	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	331					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAAGTGGAGGACCTTCCAGAC	0.682000												
CAPN10	11132	broad.mit.edu	37	2	241536099	241536099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:241536099G>A	uc002vzk.1	+	9	1667	c.1483G>A	c.(1483-1485)GCC>ACC	p.A495T	CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.A367T|CAPN10_uc002vzo.1_Intron|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_Intron|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	495					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTTGGCAGCGCCATCAGGGC	0.652000												
ANO7	50636	broad.mit.edu	37	2	242128129	242128129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242128129G>A	uc002wax.2	+	1	206	c.103G>A	c.(103-105)GCT>ACT	p.A35T	ANO7_uc002waw.2_Missense_Mutation_p.A35T	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	35	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CCAGGCTCACGCTGAGAGGTG	0.677000												
HDLBP	3069	broad.mit.edu	37	2	242179175	242179175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242179175G>A	uc002waz.2	-	19	2680	c.2452C>T	c.(2452-2454)CGC>TGC	p.R818C	HDLBP_uc002wba.2_Missense_Mutation_p.R818C|HDLBP_uc002wbb.2_Missense_Mutation_p.R770C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	818	KH 10.				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)		TGGCCTCTGCGGATGACGAAG	0.567000												
GAL3ST2	64090	broad.mit.edu	37	2	242741376	242741376	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:242741376G>A	uc002wcj.1	+	3	431	c.300G>A	c.(298-300)GCG>GCA	p.A100A		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	100	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCTTCCTGGCGCGCTACGTGG	0.662000												
NRSN2	80023	broad.mit.edu	37	20	334250	334250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:334250C>T	uc002wdi.3	+	4	1124	c.586C>T	c.(586-588)CAG>TAG	p.Q196*	NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	neurensin 2	196						integral to membrane|plasma membrane|transport vesicle					0		all_cancers(10;0.0834)				ATCTTCTGTGCAGACTATCCA	0.587000												
C20orf54	113278	broad.mit.edu	37	20	746209	746209	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:746209G>A	uc002wed.3	-	2	549	c.210C>T	c.(208-210)TCC>TCT	p.S70S	C20orf54_uc002wee.2_Silent_p.S70S	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	70					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						TGGGCACTTCGGAAAGGCAGC	0.622000												
SIRPA	140885	broad.mit.edu	37	20	1918079	1918079	+	Silent	SNP	G	G	A	rs143207818	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:1918079G>A	uc002wfq.2	+	9	1740	c.1380G>A	c.(1378-1380)CCG>CCA	p.P460P	SIRPA_uc010zps.1_Silent_p.P440P|SIRPA_uc002wfr.2_Silent_p.P460P|SIRPA_uc002wfs.2_Silent_p.P460P|SIRPA_uc002wft.2_Silent_p.P464P	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	460	Cytoplasmic (Potential).		P -> L.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGACCAGCCCGCAGCCCGCGT	0.637000												
VPS16	64601	broad.mit.edu	37	20	2843946	2843946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:2843946C>T	uc002whe.2	+	15	1426	c.1378C>T	c.(1378-1380)CGG>TGG	p.R460W	VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.R316W|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R146W|VPS16_uc002whi.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	460					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)|skin(1)	4						GCTCGTGTTGCGGAGACTTTA	0.597000												
SLC4A11	83959	broad.mit.edu	37	20	3215452	3215452	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3215452G>A	uc002wig.2	-	2	273	c.225C>T	c.(223-225)ATC>ATT	p.I75I	SLC4A11_uc010zqe.1_Silent_p.I102I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.I59I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	75	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						CGCCAGACACGATGGAGGAGT	0.567000												
C20orf194	25943	broad.mit.edu	37	20	3354734	3354734	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3354734C>A	uc002wii.2	-	6	624	c.573G>T	c.(571-573)GAG>GAT	p.E191D	C20orf194_uc002wik.2_Translation_Start_Site|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	191											0						CTCCAATGCCCTCAAGTGCAA	0.393000												
SIGLEC1	6614	broad.mit.edu	37	20	3673238	3673238	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3673238G>A	uc002wja.2	-	15	3960	c.3960C>T	c.(3958-3960)GGC>GGT	p.G1320G	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Silent_p.G1320G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1320	Ig-like C2-type 13.|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						AAGAGTAGGCGCCTGCATGAG	0.652000												
HSPA12B	116835	broad.mit.edu	37	20	3719363	3719363	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3719363C>T	uc002wjd.2	+	2	145	c.42C>T	c.(40-42)ATC>ATT	p.I14I	HSPA12B_uc010zqi.1_Silent_p.I14I|HSPA12B_uc002wje.2_5'UTR|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	14							ATP binding				0						GGCTGTACATCGGTAAGAACC	0.572000												
PROKR2	128674	broad.mit.edu	37	20	5282772	5282772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:5282772G>A	uc010zqw.1	-	2	1069	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	PROKR2_uc010zqx.1_Missense_Mutation_p.R357W|PROKR2_uc010zqy.1_Missense_Mutation_p.R357W	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTGCTCCCCCGCTGGGAGGGA	0.557000										HNSCC(71;0.22)		
JAG1	182	broad.mit.edu	37	20	10653395	10653395	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:10653395C>T	uc002wnw.2	-	2	857	c.341G>A	c.(340-342)GGC>GAC	p.G114D		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	114	Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GCGGTCGTTGCCGCGGCTGGC	0.687000									Alagille_Syndrome			
MACROD2	140733	broad.mit.edu	37	20	14665540	14665540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:14665540G>A	uc002wou.2	+	5	617	c.353G>A	c.(352-354)CGT>CAT	p.R118H	MACROD2_uc002wot.2_Missense_Mutation_p.R118H|MACROD2_uc002wox.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	118	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCTGAATGTCGTAACCTGAAT	0.413000												
KIF16B	55614	broad.mit.edu	37	20	16488710	16488710	+	Missense_Mutation	SNP	C	C	T	rs144734414	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:16488710C>T	uc002wpg.1	-	7	750	c.592G>A	c.(592-594)GTA>ATA	p.V198I	KIF16B_uc010gch.1_Missense_Mutation_p.V198I|KIF16B_uc010gci.1_Missense_Mutation_p.V198I|KIF16B_uc010gcj.1_Missense_Mutation_p.V198I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	198	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						AGTTCTTCTACGTCACCATAA	0.413000												
BFSP1	631	broad.mit.edu	37	20	17479597	17479597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:17479597C>T	uc002wpo.2	-	6	863	c.824G>A	c.(823-825)CGC>CAC	p.R275H	BFSP1_uc002wpp.2_Missense_Mutation_p.R150H|BFSP1_uc010zrn.1_Missense_Mutation_p.R136H|BFSP1_uc010zro.1_Missense_Mutation_p.R136H	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	275	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						AATCTCCTTGCGCAGTGTCTC	0.522000												
SEC23B	10483	broad.mit.edu	37	20	18523027	18523027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:18523027G>A	uc002wqz.1	+	13	1935	c.1492G>A	c.(1492-1494)GTG>ATG	p.V498M	SEC23B_uc002wra.1_Missense_Mutation_p.V498M|SEC23B_uc002wrb.1_Missense_Mutation_p.V498M|SEC23B_uc010zsb.1_Missense_Mutation_p.V480M|SEC23B_uc002wrc.1_Missense_Mutation_p.V498M	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	498					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						ACGCATCCGCGTGACCACCAT	0.502000												
ACSS1	84532	broad.mit.edu	37	20	25038592	25038592	+	Silent	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:25038592T>A	uc002wub.2	-	1	1025	c.147A>T	c.(145-147)GCA>GCT	p.A49A	ACSS1_uc002wuc.2_Silent_p.A49A|ACSS1_uc010gdc.2_Silent_p.A49A	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	49	Poly-Ala.				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCTGCTGCTGCAACTGCGG	0.771000												
REM1	28954	broad.mit.edu	37	20	30070226	30070226	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30070226A>G	uc002wwa.2	+	4	844	c.560A>G	c.(559-561)CAT>CGT	p.H187R		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	187					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGCAGACCATGTGCCCATC	0.602000												
C20orf160	140706	broad.mit.edu	37	20	30602874	30602874	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30602874G>T	uc002wxf.2	+	2	211	c.198G>T	c.(196-198)AAG>AAT	p.K66N		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	66										central_nervous_system(3)|ovary(1)	4						AAGAGGTCAAGGTGCGTGCAG	0.577000												
SPAG4	6676	broad.mit.edu	37	20	34205465	34205465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34205465G>A	uc002xdb.1	+	3	550	c.433G>A	c.(433-435)GTG>ATG	p.V145M	SPAG4_uc010zvi.1_Missense_Mutation_p.V68M	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	145	Helical; (Potential).				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGGGCTGAGCGTGTTGTTATC	0.662000												
PHF20	51230	broad.mit.edu	37	20	34505541	34505541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34505541G>A	uc002xek.1	+	13	2072	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	654	PHD-type.				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)					GAGGTGGTCCGCTGCATCTGT	0.507000												
C20orf117	140710	broad.mit.edu	37	20	35444513	35444513	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:35444513G>A	uc002xgd.1	-	5	945	c.618C>T	c.(616-618)ACC>ACT	p.T206T	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	206											0		Myeloproliferative disorder(115;0.00874)				CCTTCAGCTCGGTCTCCCGCG	0.662000												
RBL1	5933	broad.mit.edu	37	20	35635937	35635937	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:35635937A>G	uc002xgi.2	-	20	2827	c.2748T>C	c.(2746-2748)CCT>CCC	p.P916P	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.P916P	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	916	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TGGAACAGTCAGGTGTTTTTG	0.284000												
MAFB	9935	broad.mit.edu	37	20	39316588	39316588	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:39316588G>A	uc002xji.2	-	1	1289	c.903C>T	c.(901-903)CTC>CTT	p.L301L		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	301					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CGGAGTTGGCGAGTTTCTCGC	0.542000			T	IGH@	MM							
ELMO2	63916	broad.mit.edu	37	20	45000493	45000493	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:45000493C>T	uc002xrt.1	-	17	1742	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H	ELMO2_uc010zxq.1_Missense_Mutation_p.R243H|ELMO2_uc002xrs.1_Missense_Mutation_p.R258H|ELMO2_uc002xru.1_Missense_Mutation_p.R511H|ELMO2_uc010zxr.1_Missense_Mutation_p.R523H|ELMO2_uc010zxs.1_Missense_Mutation_p.R328H|ELMO2_uc002xrv.1_Missense_Mutation_p.R230H	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	511					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTCAGACTGGCGCAGTCGTAG	0.542000												
FAM65C	140876	broad.mit.edu	37	20	49218795	49218795	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:49218795G>A	uc002xvm.2	-	13	1779	c.1461C>T	c.(1459-1461)AGC>AGT	p.S487S	FAM65C_uc010zyt.1_Silent_p.S491S|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.S487S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	487										ovary(2)	2						AGGCTGTGCCGCTGTGGAACA	0.682000												
KCNG1	3755	broad.mit.edu	37	20	49626482	49626482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:49626482G>A	uc002xwa.3	-	2	689	c.394C>T	c.(394-396)CGC>TGC	p.R132C	KCNG1_uc002xwb.2_Missense_Mutation_p.R132C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	132	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGCCCGCGCGCAGGAAGGTC	0.647000												
ZFP64	55734	broad.mit.edu	37	20	50701514	50701514	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:50701514G>A	uc002xwk.2	-	9	1869	c.1520C>T	c.(1519-1521)GCG>GTG	p.A507V	ZFP64_uc002xwj.2_Missense_Mutation_p.A288V	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGGGCGGCCGCGCTGGAGCA	0.667000												
RAE1	8480	broad.mit.edu	37	20	55948793	55948793	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:55948793C>T	uc002xyg.2	+	10	1165	c.824C>T	c.(823-825)GCG>GTG	p.A275V	RAE1_uc010gis.1_Missense_Mutation_p.A228V|RAE1_uc010git.1_Missense_Mutation_p.A275V|RAE1_uc002xyh.2_Missense_Mutation_p.A275V|RAE1_uc002xyi.2_Missense_Mutation_p.A275V	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	275	WD 4.				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GACATTTATGCGGTACGTTTT	0.423000												
CTCFL	140690	broad.mit.edu	37	20	56099047	56099047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:56099047G>A	uc010gix.1	-	1	877	c.215C>T	c.(214-216)TCG>TTG	p.S72L	CTCFL_uc010giw.1_Missense_Mutation_p.S72L|CTCFL_uc002xym.2_Missense_Mutation_p.S72L|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S72L|CTCFL_uc010gjb.1_Missense_Mutation_p.S72L|CTCFL_uc010gjc.1_Missense_Mutation_p.S72L|CTCFL_uc010gjd.1_Missense_Mutation_p.S72L|CTCFL_uc010gje.2_Missense_Mutation_p.S72L|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S72L|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.S72L|CTCFL_uc010gjk.1_Missense_Mutation_p.S72L|CTCFL_uc010gjl.1_Missense_Mutation_p.S72L	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	72					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCTCTCCTCCGAGGGGGCCAG	0.582000												
PCK1	5105	broad.mit.edu	37	20	56138664	56138664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:56138664C>T	uc002xyn.3	+	6	1005	c.842C>T	c.(841-843)GCG>GTG	p.A281V	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	281					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGTACCTGGCGGCCGCATTT	0.557000												
ZNF831	128611	broad.mit.edu	37	20	57766302	57766302	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:57766302G>A	uc002yan.2	+	1	228	c.228G>A	c.(226-228)CCG>CCA	p.P76P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	76	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCCGCGCCCCGCTAGTGACGG	0.716000												
OGFR	11054	broad.mit.edu	37	20	61444236	61444236	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:61444236C>T	uc002ydj.2	+	7	1304	c.1269C>T	c.(1267-1269)AGC>AGT	p.S423S	OGFR_uc002ydk.2_Silent_p.S406S|OGFR_uc002ydl.2_Silent_p.S371S|uc011aam.1_3'UTR	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	423					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					GCCAGGGCAGCCTCAGGACGG	0.692000												
BHLHE23	128408	broad.mit.edu	37	20	61637536	61637536	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:61637536C>T	uc002yeb.2	-	1	852	c.543G>A	c.(541-543)GCG>GCA	p.A181A		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	181					transcription, DNA-dependent	nucleus	DNA binding				0						GCGTCAAGGGCGCGGCGTTTA	0.711000												
PRIC285	85441	broad.mit.edu	37	20	62195762	62195762	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62195762G>A	uc002yfm.2	-	9	5305	c.4413C>T	c.(4411-4413)GCC>GCT	p.A1471A	PRIC285_uc002yfl.1_Silent_p.A902A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1471					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCTCACGGCCGGCACCCGGGT	0.711000												
RTEL1	51750	broad.mit.edu	37	20	62326158	62326158	+	Silent	SNP	C	C	T	rs146247083		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62326158C>T	uc002yfu.1	+	32	3517	c.3174C>T	c.(3172-3174)CAC>CAT	p.H1058H	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.H1058H|RTEL1_uc011abd.1_Silent_p.H1082H|RTEL1_uc011abe.1_Silent_p.H835H|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.H303H|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	1058					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGGCCAGCACGCCGTGAGCG	0.667000												
PCMTD2	55251	broad.mit.edu	37	20	62904614	62904614	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:62904614C>T	uc002yil.3	+	6	947	c.747C>T	c.(745-747)ATC>ATT	p.I249I	PCMTD2_uc002yim.3_Silent_p.I222I	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	249						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGGCTCGCATCGCCATCCGGG	0.512000												
TMPRSS15	5651	broad.mit.edu	37	21	19713805	19713805	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:19713805G>T	uc002ykw.2	-	13	1520	c.1489C>A	c.(1489-1491)CTA>ATA	p.L497I		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	497	Extracellular (Potential).|MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CCATATGTTAGGCTAATGTCA	0.388000												
NCAM2	4685	broad.mit.edu	37	21	22804468	22804468	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:22804468G>A	uc002yld.1	+	12	1770	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	NCAM2_uc011acb.1_Silent_p.L365L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	507	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATAGAGCTGTCGCAGACCA	0.448000												
NCAM2	4685	broad.mit.edu	37	21	22804561	22804561	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:22804561G>A	uc002yld.1	+	12	1863	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	NCAM2_uc011acb.1_Silent_p.A396A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	538	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGAAGTAGCGTCAGAAATCT	0.433000												
ADAMTS5	11096	broad.mit.edu	37	21	28296840	28296840	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28296840T>C	uc002ymg.2	-	8	3054	c.2325A>G	c.(2323-2325)TTA>TTG	p.L775L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	775	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TTTTCAGGGCTAAATAGGCAG	0.418000												
ADAMTS5	11096	broad.mit.edu	37	21	28327159	28327159	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28327159A>G	uc002ymg.2	-	2	1865	c.1136T>C	c.(1135-1137)CTG>CCG	p.L379P		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	379	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TGCCATTCCCAGGGTGTCACA	0.498000												
ADAMTS5	11096	broad.mit.edu	37	21	28338050	28338050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:28338050G>A	uc002ymg.2	-	1	1390	c.661C>T	c.(661-663)CAT>TAT	p.H221Y		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	221					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCCGGAGCATGCTCGTGGGCC	0.716000												
RNF160	26046	broad.mit.edu	37	21	30302779	30302779	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:30302779C>T	uc002ymr.2	-	30	5443	c.5430G>A	c.(5428-5430)ACG>ACA	p.T1810T		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1764							ligase activity|zinc ion binding				0						CTCAGAAAAACGTCTCACGAC	0.383000												
CLDN17	26285	broad.mit.edu	37	21	31538698	31538698	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:31538698C>A	uc011acv.1	-	1	238	c.238G>T	c.(238-240)GCC>TCC	p.A80S		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	80	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						AGGGCCCGGGCTGTTTCCAGG	0.572000												
PDE9A	5152	broad.mit.edu	37	21	44182195	44182195	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:44182195A>G	uc002zbm.2	+	14	1151	c.1088A>G	c.(1087-1089)TAC>TGC	p.Y363C	PDE9A_uc002zbn.2_Missense_Mutation_p.Y236C|PDE9A_uc002zbo.2_Missense_Mutation_p.Y310C|PDE9A_uc002zbp.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbq.2_Missense_Mutation_p.Y261C|PDE9A_uc002zbs.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbr.2_Missense_Mutation_p.Y156C|PDE9A_uc002zbt.2_Missense_Mutation_p.Y235C|PDE9A_uc002zbu.2_Missense_Mutation_p.Y229C|PDE9A_uc002zbv.2_Missense_Mutation_p.Y203C|PDE9A_uc002zbw.2_Missense_Mutation_p.Y146C|PDE9A_uc002zbx.2_Missense_Mutation_p.Y303C|PDE9A_uc002zby.2_Missense_Mutation_p.Y146C|PDE9A_uc002zbz.2_Missense_Mutation_p.Y255C|PDE9A_uc002zca.2_Missense_Mutation_p.Y322C|PDE9A_uc002zcb.2_Missense_Mutation_p.Y337C|PDE9A_uc002zcc.2_Missense_Mutation_p.Y262C|PDE9A_uc002zcd.2_Missense_Mutation_p.Y277C|PDE9A_uc002zce.2_Missense_Mutation_p.Y296C|PDE9A_uc002zcf.2_Missense_Mutation_p.Y156C|PDE9A_uc002zcg.2_Missense_Mutation_p.Y156C|PDE9A_uc002zch.2_Missense_Mutation_p.Y146C|PDE9A_uc010gpf.1_Missense_Mutation_p.Y156C	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	363	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						CCTCCCAGGTACCAGATCAAT	0.617000												
PKNOX1	5316	broad.mit.edu	37	21	44438315	44438315	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:44438315G>A	uc002zcq.1	+	7	883	c.695G>A	c.(694-696)GGG>GAG	p.G232E	PKNOX1_uc002zcp.1_Missense_Mutation_p.G232E|PKNOX1_uc011aex.1_Missense_Mutation_p.G115E	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	232							sequence-specific DNA binding			large_intestine(2)	2						TTGTCGCCTGGGACAATTAGG	0.542000												
KRTAP12-2	353323	broad.mit.edu	37	21	46086770	46086770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46086770G>A	uc002zfu.2	-	1	75	c.34C>T	c.(34-36)CCA>TCA	p.P12S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	12	1.|23 X 5 AA approximate repeats.					keratin filament					0						CAGCAGGCTGGCTGGCAGCCC	0.677000												
POFUT2	23275	broad.mit.edu	37	21	46705828	46705828	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46705828G>A	uc002zhc.2	-	2	172	c.147C>T	c.(145-147)GAC>GAT	p.D49D	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D49D|POFUT2_uc011afp.1_Silent_p.D49D|POFUT2_uc011afq.1_Silent_p.D49D|LOC642852_uc002zhf.2_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	49					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		GGGGGTTGACGTCATACAGAA	0.557000												
COL18A1	80781	broad.mit.edu	37	21	46924392	46924392	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46924392C>T	uc011afs.1	+	33	4056	c.4035C>T	c.(4033-4035)GGC>GGT	p.G1345G	COL18A1_uc002zhg.2_Silent_p.G930G|COL18A1_uc002zhi.2_Silent_p.G1110G|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1345	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGGGGGCGGCGGTTTCTTCG	0.517000												
PCNT	5116	broad.mit.edu	37	21	47831338	47831338	+	Missense_Mutation	SNP	G	G	A	rs139624079		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:47831338G>A	uc002zji.3	+	28	5458	c.5351G>A	c.(5350-5352)CGT>CAT	p.R1784H	PCNT_uc002zjj.2_Missense_Mutation_p.R1666H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1784	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGGGGCCCTCGTGGGCAGGCC	0.701000												
CECR6	27439	broad.mit.edu	37	22	17600895	17600895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:17600895C>T	uc002zmb.2	-	1	1319	c.1123G>A	c.(1123-1125)GCG>ACG	p.A375T	CECR6_uc002zma.2_Missense_Mutation_p.A20T|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	375											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCCGGGGGCGCGCCCGCCTCG	0.721000												
PEX26	55670	broad.mit.edu	37	22	18566233	18566233	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:18566233T>C	uc002znp.3	+	4	611	c.402T>C	c.(400-402)CCT>CCC	p.P134P	TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.P134P|PEX26_uc002znt.2_Silent_p.P134P	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	peroxisome biogenesis factor 26	134	Cytoplasmic (Potential).				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			skin(1)	1						TGCAAGAGCCTGGAGCTGTGC	0.493000												
GNB1L	54584	broad.mit.edu	37	22	19776447	19776447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:19776447C>T	uc002zqe.1	-	7	1163	c.769G>A	c.(769-771)GCC>ACC	p.A257T	GNB1L_uc002zqd.1_Missense_Mutation_p.A113T|GNB1L_uc002zqf.1_Missense_Mutation_p.A257T	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	257	WD 5.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					GTGACCTCGGCGATCCCGGGA	0.637000												
DGCR8	54487	broad.mit.edu	37	22	20073923	20073923	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:20073923C>T	uc002zri.2	+	2	787	c.437C>T	c.(436-438)GCG>GTG	p.A146V	DGCR8_uc010grz.2_Missense_Mutation_p.A146V|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	146	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GACGTGCGGGCGGAGTGCGGT	0.577000												
MED15	51586	broad.mit.edu	37	22	20918929	20918930	+	Missense_Mutation	DNP	AG	AG	TC			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:20918929_20918930AG>TC	uc002zsp.2	+	6	724_725	c.644_645AG>TC	c.(643-645)CAG>CTC	p.Q215L	MED15_uc002zsn.1_Missense_Mutation_p.Q134L|MED15_uc002zso.2_Missense_Mutation_p.Q144L|MED15_uc002zsq.2_Missense_Mutation_p.Q215L|MED15_uc010gso.2_Missense_Mutation_p.Q215L|MED15_uc002zsr.2_Missense_Mutation_p.Q189L|MED15_uc011ahs.1_Missense_Mutation_p.Q189L|MED15_uc011aht.1_Missense_Mutation_p.Q189L|MED15_uc002zss.2_Missense_Mutation_p.Q134L|MED15_uc011ahu.1_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	215	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			cagcagcagcagcagcagcagc	0.233000											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LZTR1	8216	broad.mit.edu	37	22	21346541	21346541	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:21346541C>T	uc002zto.2	+	10	1135	c.1032C>T	c.(1030-1032)TCC>TCT	p.S344S	LZTR1_uc002ztn.2_Silent_p.S303S|LZTR1_uc011ahy.1_Silent_p.S325S|LZTR1_uc010gsr.1_Silent_p.S215S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	344					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)			CCTGTGCTTCCGAGGAGGTGC	0.612000												
HIC2	23119	broad.mit.edu	37	22	21800988	21800988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:21800988C>T	uc002zur.3	+	3	2034	c.1804C>T	c.(1804-1806)CGC>TGC	p.R602C	HIC2_uc002zus.3_Missense_Mutation_p.R602C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	602	C2H2-type 5.				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)				CACCCAGCAGCGCAACCTCAT	0.652000												
YPEL1	29799	broad.mit.edu	37	22	22064942	22064942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:22064942G>A	uc002zvl.2	-	2	424	c.92C>T	c.(91-93)GCC>GTC	p.A31V	YPEL1_uc002zvm.2_RNA	NM_013313	NP_037445	O60688	YPEL1_HUMAN	yippee-like 1	31						nucleus					0	Colorectal(54;0.105)					GTCATGATTGGCCAGGTGTGC	0.453000												
ZNF280A	129025	broad.mit.edu	37	22	22869135	22869135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:22869135C>T	uc002zwe.2	-	2	1073	c.820G>A	c.(820-822)GTG>ATG	p.V274M	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	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)		CTAAGTAACACGATGGGATTT	0.443000												
AP1B1	162	broad.mit.edu	37	22	29727444	29727444	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:29727444T>C	uc003afj.2	-	19	2702	c.2518A>G	c.(2518-2520)AAG>GAG	p.K840E	AP1B1_uc003afi.2_Missense_Mutation_p.K833E|AP1B1_uc003afk.2_Missense_Mutation_p.K833E|AP1B1_uc003afl.2_Missense_Mutation_p.K813E|AP1B1_uc003afh.2_Missense_Mutation_p.K37E|AP1B1_uc011ako.1_Missense_Mutation_p.K393E	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	840					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCACCCATCTTCCCGTCCTCC	0.577000												
DEPDC5	9681	broad.mit.edu	37	22	32242937	32242937	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:32242937A>G	uc003als.2	+	31	3254	c.3112A>G	c.(3112-3114)ATG>GTG	p.M1038V	DEPDC5_uc011als.1_Missense_Mutation_p.M969V|DEPDC5_uc011alu.1_Missense_Mutation_p.M1047V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.M1038V|DEPDC5_uc003alu.2_Missense_Mutation_p.M487V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.M368V|DEPDC5_uc003alw.2_Missense_Mutation_p.M336V|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.M42V	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1038					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCTGTTGGAGATGGAGGCCAG	0.562000												
MYH9	4627	broad.mit.edu	37	22	36681986	36681986	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:36681986G>A	uc003apg.2	-	36	5306	c.5075C>T	c.(5074-5076)GCG>GTG	p.A1692V		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1692	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCACGCTCCGCGGCTGCCAG	0.647000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
CSF2RB	1439	broad.mit.edu	37	22	37329915	37329915	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37329915C>T	uc003aqa.3	+	10	1411	c.1194C>T	c.(1192-1194)GCC>GCT	p.A398A	CSF2RB_uc003aqc.3_Silent_p.A404A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	398	Extracellular (Potential).|Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	ACAGCATGGCCCTGCCAGCCC	0.677000												
TRIOBP	11078	broad.mit.edu	37	22	38154108	38154108	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38154108G>T	uc003atr.2	+	16	6447	c.6176G>T	c.(6175-6177)GGG>GTG	p.G2059V	TRIOBP_uc003atu.2_Missense_Mutation_p.G1887V|TRIOBP_uc003atv.2_Missense_Mutation_p.G346V|TRIOBP_uc003atw.2_Missense_Mutation_p.G346V|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2059					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GAGCGCCGAGGGCCCCCAAGT	0.662000												
GCAT	23464	broad.mit.edu	37	22	38208895	38208895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38208895G>A	uc003atz.2	+	3	349	c.329G>A	c.(328-330)AGC>AAC	p.S110N	GCAT_uc003aua.1_Missense_Mutation_p.S136N	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	110					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTCTTCAGAGCATCCACAAG	0.542000												
MICALL1	85377	broad.mit.edu	37	22	38323740	38323740	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:38323740C>A	uc003aui.2	+	9	1872	c.1788C>A	c.(1786-1788)CCC>CCA	p.P596P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	596	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CAGCCAAGCCCTGCAGTGGCG	0.642000												
NPTXR	23467	broad.mit.edu	37	22	39222642	39222642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39222642C>T	uc003awk.2	-	3	1115	c.961G>A	c.(961-963)GCC>ACC	p.A321T		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	321	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CACATGCAGGCGGTGAATGCG	0.622000												
APOBEC3D	140564	broad.mit.edu	37	22	39427960	39427960	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39427960A>G	uc011aoe.1	+	6	1078	c.1024A>G	c.(1024-1026)AAG>GAG	p.K342E	APOBEC3D_uc011aof.1_Missense_Mutation_p.K158E|APOBEC3D_uc003awu.3_Missense_Mutation_p.K158E|APOBEC3D_uc003awt.3_Missense_Mutation_p.K342E|APOBEC3D_uc010gxu.2_Missense_Mutation_p.K138E	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	342					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)					GGCCTCCGTGAAGATCATGGG	0.622000												
TAB1	10454	broad.mit.edu	37	22	39817856	39817856	+	Silent	SNP	C	C	T	rs145765457		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39817856C>T	uc003axt.2	+	8	850	c.801C>T	c.(799-801)ATC>ATT	p.I267I	TAB1_uc003axr.2_Silent_p.I343I|TAB1_uc011aok.1_Silent_p.I101I|TAB1_uc003axu.1_Silent_p.I267I	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	267	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						AACCAATCATCGCAGAGCCAG	0.587000												
CACNA1I	8911	broad.mit.edu	37	22	40056439	40056439	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:40056439G>A	uc003ayc.2	+	15	2695	c.2695G>A	c.(2695-2697)GGA>AGA	p.G899R	CACNA1I_uc003ayd.2_Missense_Mutation_p.G864R|CACNA1I_uc003aye.2_Missense_Mutation_p.G814R|CACNA1I_uc003ayf.2_Missense_Mutation_p.G779R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	899	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACAGCAGCGGAGGTAAACA	0.587000												
DNAJB7	150353	broad.mit.edu	37	22	41257619	41257619	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:41257619T>C	uc003azj.2	-	1	512	c.380A>G	c.(379-381)TAT>TGT	p.Y127C	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	127					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						TCTGTTTCCATAGGAGCTTCC	0.358000												
A4GALT	53947	broad.mit.edu	37	22	43089138	43089138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:43089138G>A	uc003bdb.2	-	3	1081	c.820C>T	c.(820-822)CGC>TGC	p.R274C	A4GALT_uc010gzd.2_Missense_Mutation_p.R274C	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274	Lumenal (Potential).				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			central_nervous_system(2)	2						GTGACGCCGCGGCAGGCGCGG	0.662000												
NUP50	10762	broad.mit.edu	37	22	45580379	45580379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:45580379C>T	uc003bfr.2	+	8	1712	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	NUP50_uc003bfs.2_Missense_Mutation_p.T389M|NUP50_uc011aqn.1_Missense_Mutation_p.T167M|NUP50_uc003bft.2_Missense_Mutation_p.T389M|NUP50_uc011aqo.1_3'UTR	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	417	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGCCATGTACGCGAACAGGG	0.418000												
CELSR1	9620	broad.mit.edu	37	22	46765689	46765689	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:46765689C>T	uc003bhw.1	-	26	7772	c.7772G>A	c.(7771-7773)GGC>GAC	p.G2591D	CELSR1_uc011arc.1_Silent_p.R1056R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2591	Helical; Name=4; (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGTCCAGGCCGACCGCCAG	0.637000												
BRD1	23774	broad.mit.edu	37	22	50169703	50169703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:50169703C>T	uc003biv.2	-	10	3320	c.2833G>A	c.(2833-2835)GCA>ACA	p.A945T	BRD1_uc011arf.1_Missense_Mutation_p.A671T|BRD1_uc011arg.1_Missense_Mutation_p.A994T|BRD1_uc011arh.1_Missense_Mutation_p.A945T|BRD1_uc003biu.3_Missense_Mutation_p.A1076T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	945	PWWP.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCACCAGTGCCGGGTAGGAG	0.692000												
MOV10L1	54456	broad.mit.edu	37	22	50582604	50582604	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:50582604C>T	uc003bjj.2	+	18	2520	c.2437C>T	c.(2437-2439)CTG>TTG	p.L813L	MOV10L1_uc003bjk.3_Silent_p.L813L|MOV10L1_uc011arp.1_Silent_p.L793L|MOV10L1_uc003bjl.2_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	813					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTCTGCGGCTGCACGAGAG	0.602000												
MAPK8IP2	23542	broad.mit.edu	37	22	51043393	51043393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:51043393G>A	uc003bmx.2	+	6	1783	c.1666G>A	c.(1666-1668)GGC>AGC	p.G556S	MAPK8IP2_uc003bmy.2_Missense_Mutation_p.G529S|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	556					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		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)		GCTGCTAGGCGGCGGTCAGGT	0.677000												
CNTN4	152330	broad.mit.edu	37	3	3078979	3078979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:3078979C>T	uc003bpc.2	+	17	2280	c.2059C>T	c.(2059-2061)CGC>TGC	p.R687C	CNTN4_uc003bpb.1_Missense_Mutation_p.R358C|CNTN4_uc003bpd.1_Missense_Mutation_p.R687C|CNTN4_uc003bpe.2_Missense_Mutation_p.R359C|CNTN4_uc003bpf.2_Missense_Mutation_p.R358C|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	687	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAGCCCAGCCGCCCCTCAGA	0.522000												
CRBN	51185	broad.mit.edu	37	3	3221317	3221317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:3221317G>A	uc003bpq.2	-	1	74	c.55C>T	c.(55-57)CCG>TCG	p.P19S	CRBN_uc003bpr.2_Missense_Mutation_p.P19S|CRBN_uc010hbw.2_Missense_Mutation_p.P19S|CRBN_uc011aso.1_5'UTR	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	19					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)		GGCAGGAGCGGCAGGTGGTTG	0.677000												
GRM7	2917	broad.mit.edu	37	3	6903155	6903155	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:6903155C>T	uc003bqm.2	+	1	354	c.80C>T	c.(79-81)GCG>GTG	p.A27V	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A27V|GRM7_uc003bql.2_Missense_Mutation_p.A27V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	27					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CTCCTGTGCGCGCTGGCGGCG	0.692000												
SLC6A1	6529	broad.mit.edu	37	3	11059528	11059528	+	Splice_Site	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:11059528G>T	uc010hdq.2	+	4	650	c.239_splice	c.e4-1	p.G80_splice		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTTACCTGCAGGAGCCTTCCT	0.577000												
CAND2	23066	broad.mit.edu	37	3	12856666	12856666	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:12856666G>A	uc003bxk.2	+	8	1082	c.1033G>A	c.(1033-1035)GAT>AAT	p.D345N	CAND2_uc003bxj.2_Missense_Mutation_p.D252N	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	345	Poly-Asp.|HEAT 8.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CAGCGATGACGATGACATGAG	0.617000												
IQSEC1	9922	broad.mit.edu	37	3	12977371	12977371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:12977371G>A	uc003bxt.2	-	3	1196	c.1187C>T	c.(1186-1188)TCG>TTG	p.S396L	IQSEC1_uc003bxu.3_Missense_Mutation_p.S274L|IQSEC1_uc011auw.1_Missense_Mutation_p.S382L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	396					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CCCCCGCTCCGAGCGGTCACT	0.687000												
NUP210	23225	broad.mit.edu	37	3	13363299	13363299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:13363299G>A	uc003bxv.1	-	36	5035	c.4952C>T	c.(4951-4953)ACG>ATG	p.T1651M		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1651	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)					CTGCTTGTCCGTCAGCCTGTG	0.557000												
FGD5	152273	broad.mit.edu	37	3	14964562	14964562	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:14964562C>T	uc003bzc.2	+	16	3927	c.3817C>T	c.(3817-3819)CGG>TGG	p.R1273W	FGD5_uc011avk.1_Missense_Mutation_p.R1273W|FGD5_uc003bzd.2_Missense_Mutation_p.R351W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1273	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GATCGTGTGCCGGAACTGTTC	0.622000												
PDCD6IP	10015	broad.mit.edu	37	3	33877563	33877563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:33877563G>A	uc003cfx.2	+	8	1017	c.862G>A	c.(862-864)GCA>ACA	p.A288T	PDCD6IP_uc003cfy.2_Missense_Mutation_p.A293T|PDCD6IP_uc011axw.1_Missense_Mutation_p.A69T	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	288	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						TAAAACAGTGGCATCTCGCTA	0.353000												
VILL	50853	broad.mit.edu	37	3	38039070	38039070	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38039070A>G	uc003chj.2	+	7	944	c.658A>G	c.(658-660)ATG>GTG	p.M220V	VILL_uc003chk.1_Missense_Mutation_p.M220V|VILL_uc003chl.2_Missense_Mutation_p.M220V|VILL_uc010hgu.2_Missense_Mutation_p.M50V	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	220					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCGGACCTCATGCAGATCAT	0.632000												
DLEC1	9940	broad.mit.edu	37	3	38159370	38159370	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38159370T>C	uc003cho.1	+	33	4580	c.4559T>C	c.(4558-4560)CTT>CCT	p.L1520P	DLEC1_uc003chp.1_Missense_Mutation_p.L1520P|DLEC1_uc010hgv.1_Missense_Mutation_p.L1523P|DLEC1_uc003chr.1_Missense_Mutation_p.L591P|DLEC1_uc003chs.1_Missense_Mutation_p.L77P	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1520					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TACTTCCGGCTTATGGTCTCC	0.607000											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCN5A	6331	broad.mit.edu	37	3	38592496	38592496	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38592496G>A	uc003cio.2	-	28	5561	c.5367C>T	c.(5365-5367)GAC>GAT	p.D1789D	SCN5A_uc003cin.2_Silent_p.D1788D|SCN5A_uc003cil.3_Silent_p.D1789D|SCN5A_uc010hhi.2_Silent_p.D1771D|SCN5A_uc010hhk.2_Silent_p.D1756D|SCN5A_uc011ayr.1_Silent_p.D1735D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1789					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TATCGAAGTCGTCCTCACTCA	0.512000												
SCN5A	6331	broad.mit.edu	37	3	38640419	38640419	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38640419G>A	uc003cio.2	-	13	2207	c.2013C>T	c.(2011-2013)AGC>AGT	p.S671S	SCN5A_uc003cin.2_Silent_p.S671S|SCN5A_uc003cil.3_Silent_p.S671S|SCN5A_uc010hhi.2_Silent_p.S671S|SCN5A_uc010hhk.2_Silent_p.S671S|SCN5A_uc011ayr.1_Silent_p.S671S|SCN5A_uc010hhj.1_Silent_p.S282S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	671					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCAGTGCGCTGGTGAGGA	0.637000												
SCN10A	6336	broad.mit.edu	37	3	38770179	38770179	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:38770179T>C	uc003ciq.2	-	15	2494	c.2494A>G	c.(2494-2496)ATG>GTG	p.M832V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	832	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)	AAGTCGTGCATGTGCCAGCGG	0.507000												
MYRIP	25924	broad.mit.edu	37	3	40293447	40293447	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40293447C>A	uc003cka.2	+	16	2639	c.2504C>A	c.(2503-2505)ACA>AAA	p.T835K	MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.T770K|MYRIP_uc010hhw.2_Missense_Mutation_p.T746K|MYRIP_uc011ayz.1_Missense_Mutation_p.T648K|uc003ckb.2_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	835	Actin-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)		GGCTCCTCAACAAACAGGACT	0.378000												
ZNF197	10168	broad.mit.edu	37	3	44670856	44670856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:44670856G>A	uc003cnm.2	+	2	416	c.210G>A	c.(208-210)TGG>TGA	p.W70*	ZNF197_uc003cnn.2_Nonsense_Mutation_p.W70*|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Nonsense_Mutation_p.W70*	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	70	SCAN box.				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)		GTCGCCGGTGGCTGAGACCAG	0.582000												
CLEC3B	7123	broad.mit.edu	37	3	45077264	45077264	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:45077264G>A	uc003cok.3	+	3	553	c.457G>A	c.(457-459)GCC>ACC	p.A153T	CLEC3B_uc003col.2_Missense_Mutation_p.A111T	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	153	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCCCGCATCGCCTACAAGAA	0.667000												
FYCO1	79443	broad.mit.edu	37	3	46011206	46011206	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46011206G>T	uc003cpb.3	-	7	797	c.591C>A	c.(589-591)CGC>CGA	p.R197R	FYCO1_uc011bal.1_Silent_p.R197R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	197					transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCTGGAGCTGCGGCTAGGGG	0.542000												
FYCO1	79443	broad.mit.edu	37	3	46014624	46014624	+	Silent	SNP	C	C	T	rs139730012		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46014624C>T	uc003cpb.3	-	6	701	c.495G>A	c.(493-495)GCG>GCA	p.A165A	FYCO1_uc011bal.1_Silent_p.A165A	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	165	RUN.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCCCCTCGACGCCAGGTCAA	0.488000												
NME6	10201	broad.mit.edu	37	3	48336260	48336260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48336260G>A	uc003csp.3	-	6	479	c.428C>T	c.(427-429)GCC>GTC	p.A143V	NME6_uc003cso.2_Missense_Mutation_p.A151V|NME6_uc011bbh.1_Missense_Mutation_p.P130S|NME6_uc010hju.2_Missense_Mutation_p.A45V|NME6_uc011bbi.1_Missense_Mutation_p.A76V	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	143					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGGGAAGAAGGCTGCAATCTC	0.532000												
PLXNB1	5364	broad.mit.edu	37	3	48451704	48451704	+	Splice_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48451704C>T	uc003csw.2	-	31	5875	c.5605_splice	c.e31+1	p.R1869_splice	PLXNB1_uc003cst.2_Splice_Site_p.R319_splice|PLXNB1_uc003csu.2_Splice_Site_p.R1686_splice|PLXNB1_uc003csx.2_Splice_Site_p.R1869_splice	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCGGTACTCACGCTCTCCAGG	0.622000												
CELSR3	1951	broad.mit.edu	37	3	48696997	48696997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48696997C>T	uc003cul.2	-	1	3352	c.3071G>A	c.(3070-3072)CGG>CAG	p.R1024Q	CELSR3_uc003cuf.1_Missense_Mutation_p.R1094Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1024	Extracellular (Potential).|Cadherin 7.				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)		CCGGTCTAGCCGCCTTACTGT	0.547000												
CELSR3	1951	broad.mit.edu	37	3	48698761	48698761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48698761G>A	uc003cul.2	-	1	1588	c.1307C>T	c.(1306-1308)GCG>GTG	p.A436V	CELSR3_uc003cuf.1_Missense_Mutation_p.A506V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	436	Extracellular (Potential).|Cadherin 2.				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)		CCGGTACTGCGCTTGCTCAAA	0.682000												
DALRD3	55152	broad.mit.edu	37	3	49053507	49053507	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49053507A>G	uc003cvk.1	-	10	1362	c.1342T>C	c.(1342-1344)TTG>CTG	p.L448L	DALRD3_uc003cvl.1_Intron|DALRD3_uc003cvm.1_Silent_p.L281L|DALRD3_uc010hko.1_Silent_p.L281L|DALRD3_uc011bca.1_Silent_p.C471C	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	448					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGAAGAGCAACAACCACTCA	0.587000												
QRICH1	54870	broad.mit.edu	37	3	49094758	49094758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49094758G>A	uc010hkq.2	-	4	1171	c.875C>T	c.(874-876)GCC>GTC	p.A292V	QRICH1_uc003cvu.2_Missense_Mutation_p.A292V|QRICH1_uc003cvv.2_Missense_Mutation_p.A292V	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	292	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)		GTACAGGTGGGCACTGTCTAC	0.597000												
CCDC36	339834	broad.mit.edu	37	3	49294662	49294662	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:49294662A>G	uc003cwk.2	+	10	2119	c.1732A>G	c.(1732-1734)AAG>GAG	p.K578E	CCDC36_uc011bck.1_Missense_Mutation_p.K578E	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	578										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GGAGGCAGGAAAGAATTTGCT	0.483000												
RBM5	10181	broad.mit.edu	37	3	50129595	50129595	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:50129595G>A	uc003cyg.2	+	3	285	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA|RBM5_uc003cyf.2_Missense_Mutation_p.R46Q|RBM5_uc011bdj.1_Missense_Mutation_p.G24R|RBM5_uc011bdk.1_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	46					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGATGATCGGAGGGGTGAT	0.488000												
DOCK3	1795	broad.mit.edu	37	3	51263127	51263127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:51263127G>A	uc011bds.1	+	15	1323	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	434	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGGGGATTTCGAGAGAGGAGG	0.463000												
STAB1	23166	broad.mit.edu	37	3	52539758	52539758	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:52539758C>A	uc003dej.2	+	15	1730	c.1656C>A	c.(1654-1656)GAC>GAA	p.D552E	STAB1_uc003dei.1_Missense_Mutation_p.D552E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	552	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)		AGGCTGTGGACAGCTTGCGTG	0.642000												
ITIH3	3699	broad.mit.edu	37	3	52839838	52839838	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:52839838C>A	uc003dfv.2	+	16	1924	c.1888C>A	c.(1888-1890)CCC>ACC	p.P630T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	630					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCGGTGAGCCCCGCCATGTC	0.632000												
IL17RB	55540	broad.mit.edu	37	3	53894187	53894187	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:53894187T>G	uc003dha.2	+	10	917	c.878T>G	c.(877-879)CTC>CGC	p.L293R		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	293	Helical; (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGCTGCCTCTCCTCCTGCTG	0.448000												
WNT5A	7474	broad.mit.edu	37	3	55513442	55513442	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:55513442C>T	uc003dhn.2	-	3	609	c.291G>A	c.(289-291)GCG>GCA	p.A97A	WNT5A_uc003dhm.2_Silent_p.A82A|WNT5A_uc010hmw.2_Silent_p.A82A|WNT5A_uc010hmx.2_Silent_p.A8A	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	97					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGCCTGTCTTCGCGCCTTCTC	0.507000												
ARHGEF3	50650	broad.mit.edu	37	3	56789047	56789047	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:56789047T>C	uc003dig.2	-	3	506	c.337A>G	c.(337-339)AAT>GAT	p.N113D	ARHGEF3_uc011bew.1_Missense_Mutation_p.N113D|ARHGEF3_uc003dih.2_Missense_Mutation_p.N145D|ARHGEF3_uc011bev.1_Missense_Mutation_p.N84D|ARHGEF3_uc003dif.2_Missense_Mutation_p.N119D|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.N113D	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	113					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)		AGCATCTGATTGACGCACACA	0.572000												
ADAMTS9	56999	broad.mit.edu	37	3	64607966	64607966	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:64607966C>T	uc003dmg.2	-	18	2626	c.2594G>A	c.(2593-2595)CGC>CAC	p.R865H	ADAMTS9_uc011bfo.1_Missense_Mutation_p.R837H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R694H|ADAMTS9_uc003dmk.1_Missense_Mutation_p.R865H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	865	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAAAGAATAGCGTACATCGGG	0.443000												
MITF	4286	broad.mit.edu	37	3	69998213	69998213	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:69998213G>A	uc003dnz.2	+	6	890	c.774G>A	c.(772-774)TCG>TCA	p.S258S	MITF_uc011bgb.1_Silent_p.S206S|MITF_uc003doa.2_Silent_p.S257S|MITF_uc003dob.2_Silent_p.S242S|MITF_uc003dod.2_Silent_p.S233S|MITF_uc003doe.2_Silent_p.S151S|MITF_uc003dof.2_Silent_p.S151S	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	258	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TGCCTGTCTCGGGAAACTTGA	0.428000			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
FOXP1	27086	broad.mit.edu	37	3	71247446	71247446	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:71247446G>A	uc003dol.2	-	2	410	c.87C>T	c.(85-87)TGC>TGT	p.C29C	FOXP1_uc003dom.2_Silent_p.C29C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.C29C|FOXP1_uc003dop.2_Silent_p.C29C|FOXP1_uc003doq.1_Silent_p.C29C|FOXP1_uc003dos.2_Silent_p.C29C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	29					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)		GAAGACCGCCGCACTCTAGTA	0.602000			T	PAX5	ALL							
VGLL3	389136	broad.mit.edu	37	3	87027688	87027688	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:87027688G>T	uc003dqn.2	-	2	755	c.391C>A	c.(391-393)CCC>ACC	p.P131T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGCCATAGGGGGGTTAGCCCC	0.507000												
EPHA6	285220	broad.mit.edu	37	3	96533512	96533512	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:96533512G>A	uc010how.1	+	1	88	c.45G>A	c.(43-45)CCG>CCA	p.P15P	EPHA6_uc003drp.1_Silent_p.P15P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						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						CCCCGGCGCCGCAGGCAGCGT	0.711000												
MINA	84864	broad.mit.edu	37	3	97686167	97686167	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:97686167T>C	uc003drz.1	-	2	777	c.271A>G	c.(271-273)AGC>GGC	p.S91G	MINA_uc003dsa.1_Missense_Mutation_p.S91G|MINA_uc003dsb.1_Missense_Mutation_p.S91G|MINA_uc003dsc.1_Missense_Mutation_p.S91G|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	91					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						ATCCCCCGGCTGCACAGACTC	0.478000												
NIT2	56954	broad.mit.edu	37	3	100074044	100074044	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:100074044C>T	uc003dtv.2	+	10	837	c.763C>T	c.(763-765)CGC>TGC	p.R255C		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	255	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						GGCTGAAATACGCCAGCAAAT	0.418000												
ABI3BP	25890	broad.mit.edu	37	3	100621530	100621530	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:100621530T>C	uc003dun.2	-	3	366	c.281A>G	c.(280-282)GAT>GGT	p.D94G	ABI3BP_uc003duo.2_Missense_Mutation_p.D87G|ABI3BP_uc003dup.3_Missense_Mutation_p.D87G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	94						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						CGGCTCTGCATCTGGAAGCAA	0.433000												
CEP97	79598	broad.mit.edu	37	3	101477207	101477207	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:101477207A>G	uc003dvk.1	+	9	1784	c.1757A>G	c.(1756-1758)TAC>TGC	p.Y586C	CEP97_uc010hpm.1_Missense_Mutation_p.Y552C|CEP97_uc011bhf.1_Missense_Mutation_p.Y527C|CEP97_uc003dvl.1_Missense_Mutation_p.Y282C|CEP97_uc003dvm.1_Missense_Mutation_p.Y424C	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	586	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						GATGTGCGTTACGAAATCCGG	0.463000												
ZPLD1	131368	broad.mit.edu	37	3	102196407	102196407	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:102196407G>T	uc003dvs.1	+	18	2075	c.1193G>T	c.(1192-1194)AGG>ATG	p.R398M	ZPLD1_uc003dvt.1_Missense_Mutation_p.R414M|ZPLD1_uc011bhg.1_Missense_Mutation_p.R398M	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	398	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(2)|central_nervous_system(1)	5						CTTCTGCACAGGAAGGGACCC	0.478000												
MYH15	22989	broad.mit.edu	37	3	108159966	108159966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:108159966G>A	uc003dxa.1	-	24	2914	c.2857C>T	c.(2857-2859)CGG>TGG	p.R953W		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	953	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TCGAGTTTCCGCCCCCTGGCA	0.473000												
DZIP3	9666	broad.mit.edu	37	3	108363342	108363342	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:108363342G>A	uc003dxd.2	+	14	1895	c.1473G>A	c.(1471-1473)CCG>CCA	p.P491P	DZIP3_uc003dxf.1_Silent_p.P491P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P491P|DZIP3_uc003dxg.1_Silent_p.P214P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	491					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATATGGAACCGCCATCTTCTG	0.413000												
SLC9A10	285335	broad.mit.edu	37	3	111983101	111983101	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:111983101T>C	uc003dyu.2	-	9	1190	c.968A>G	c.(967-969)GAA>GGA	p.E323G	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Intron	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	323					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ATCAACAAATTCTATATACAA	0.264000												
BOC	91653	broad.mit.edu	37	3	112992173	112992173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:112992173C>T	uc003dzx.2	+	8	1840	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	BOC_uc003dzy.2_Missense_Mutation_p.R407W|BOC_uc003dzz.2_Missense_Mutation_p.R407W|BOC_uc003eab.2_Missense_Mutation_p.R108W	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	407	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			AGTCCAGCTGCGGACCTCCAG	0.502000												
BOC	91653	broad.mit.edu	37	3	113003371	113003371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:113003371C>T	uc003dzx.2	+	17	3464	c.2843C>T	c.(2842-2844)CCG>CTG	p.P948L	BOC_uc003dzy.2_Missense_Mutation_p.P948L|BOC_uc003dzz.2_Missense_Mutation_p.P949L|BOC_uc003eab.2_Missense_Mutation_p.P649L|BOC_uc003eac.2_Missense_Mutation_p.P263L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	948	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GTGGGCTACCCGGGCATGAAG	0.647000												
IGSF11	152404	broad.mit.edu	37	3	118621453	118621453	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:118621453A>G	uc003ebw.2	-	7	1457	c.1210T>C	c.(1210-1212)TAC>CAC	p.Y404H	IGSF11_uc011biv.1_Missense_Mutation_p.Y376H|IGSF11_uc003ebx.2_Missense_Mutation_p.Y380H|IGSF11_uc003eby.2_Missense_Mutation_p.Y403H|IGSF11_uc003ebz.2_Missense_Mutation_p.Y379H|IGSF11_uc010hqs.2_Missense_Mutation_p.Y403H	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	404	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						CTGATGGTGTAGGAATGAGTG	0.552000												
KTELC1	56983	broad.mit.edu	37	3	119198988	119198988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:119198988C>T	uc003ecm.2	+	5	631	c.547C>T	c.(547-549)CGG>TGG	p.R183W	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R24W	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	183						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		AGGTCTTGGACGGTGGGACCT	0.408000												
GOLGB1	2804	broad.mit.edu	37	3	121395743	121395743	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:121395743G>A	uc003eei.3	-	17	9285	c.9159C>T	c.(9157-9159)AGC>AGT	p.S3053S	GOLGB1_uc010hrc.2_Silent_p.S3058S|GOLGB1_uc003eej.3_Silent_p.S3019S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3053	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)		CACTTACGTTGCTGTTCAGTT	0.403000												
DTX3L	151636	broad.mit.edu	37	3	122289345	122289345	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122289345G>A	uc003efk.2	+	4	2068	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	DTX3L_uc010hrj.2_Missense_Mutation_p.R148Q	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	660					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		GGAATACAGCGAACTGCATAC	0.418000												
PARP14	54625	broad.mit.edu	37	3	122399864	122399864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122399864G>A	uc003efq.3	+	1	193	c.134G>A	c.(133-135)CGC>CAC	p.R45H		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	45					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)		TGTGAGGTCCGCCAGGATCCC	0.672000												
SEMA5B	54437	broad.mit.edu	37	3	122634315	122634315	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122634315G>T	uc003efz.1	-	14	2264	c.1960C>A	c.(1960-1962)CCA>ACA	p.P654T	SEMA5B_uc011bju.1_Missense_Mutation_p.P596T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.P654T|SEMA5B_uc010hro.1_Missense_Mutation_p.P596T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	654	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGGATGGCTGGCCCCAGGCAG	0.607000												
HEG1	57493	broad.mit.edu	37	3	124731472	124731472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:124731472G>A	uc003ehs.3	-	6	3019	c.2951C>T	c.(2950-2952)GCC>GTC	p.A984V	HEG1_uc011bke.1_Missense_Mutation_p.A1084V	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	984	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						TTTACCTGAGGCTGAAGAGGA	0.498000												
PLXND1	23129	broad.mit.edu	37	3	129305017	129305017	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:129305017C>T	uc003emx.2	-	4	1819	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	573	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGCCTCACCGCGTCTCCAGGG	0.692000												
CPNE4	131034	broad.mit.edu	37	3	131388544	131388544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:131388544C>T	uc003eok.2	-	7	1091	c.656G>A	c.(655-657)AGC>AAC	p.S219N	CPNE4_uc011blq.1_Missense_Mutation_p.S237N|CPNE4_uc003eol.2_Missense_Mutation_p.S237N|CPNE4_uc003eom.2_Missense_Mutation_p.S219N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	219	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TGGGTCTCCGCTGCATAGAGA	0.388000												
DZIP1L	199221	broad.mit.edu	37	3	137822384	137822384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137822384G>A	uc003erq.2	-	2	793	c.430C>T	c.(430-432)CGC>TGC	p.R144C	DZIP1L_uc003err.1_Missense_Mutation_p.R144C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	144						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CGACGCCGGCGGCTCTCCTCC	0.657000												
DZIP1L	199221	broad.mit.edu	37	3	137822423	137822423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137822423G>A	uc003erq.2	-	2	754	c.391C>T	c.(391-393)CGC>TGC	p.R131C	DZIP1L_uc003err.1_Missense_Mutation_p.R131C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	131						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCAGCCTGGCGTCCCAGCTCC	0.662000												
ARMC8	25852	broad.mit.edu	37	3	137953909	137953909	+	Missense_Mutation	SNP	G	G	T	rs139253596		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137953909G>T	uc003esa.1	+	8	887	c.520G>T	c.(520-522)GGT>TGT	p.G174C	ARMC8_uc003erw.2_Missense_Mutation_p.G174C|ARMC8_uc003erx.2_Missense_Mutation_p.G174C|ARMC8_uc003ery.2_Missense_Mutation_p.G146C|ARMC8_uc003erz.2_Missense_Mutation_p.G146C|ARMC8_uc011bmf.1_Missense_Mutation_p.G157C|ARMC8_uc011bmg.1_Missense_Mutation_p.G188C|ARMC8_uc011bmh.1_Missense_Mutation_p.G115C|ARMC8_uc003esb.1_Missense_Mutation_p.G146C|ARMC8_uc003esc.1_5'Flank	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	188	ARM 4.						binding				0						ATTTAACCACGGTGCAGTTCA	0.333000												
CLSTN2	64084	broad.mit.edu	37	3	140282887	140282887	+	Missense_Mutation	SNP	G	G	A	rs140778211		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:140282887G>A	uc003etn.2	+	16	2757	c.2567G>A	c.(2566-2568)CGG>CAG	p.R856Q		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	856	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TACCGGGTCCGGATCGCCCAC	0.547000										HNSCC(16;0.037)		
CHST2	9435	broad.mit.edu	37	3	142840396	142840396	+	Silent	SNP	G	G	A	rs150194588		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:142840396G>A	uc003evm.2	+	2	1627	c.738G>A	c.(736-738)ACG>ACA	p.T246T		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	246	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						ACCTCACCACGCTGGGCATCT	0.667000												
ZIC4	84107	broad.mit.edu	37	3	147113965	147113965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:147113965C>T	uc003ewd.1	-	3	635	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ZIC4_uc003ewc.1_Missense_Mutation_p.R51H|ZIC4_uc011bno.1_Missense_Mutation_p.R171H	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	121						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GATGGGCTGGCGCATGTAGCG	0.657000												
ZIC1	7545	broad.mit.edu	37	3	147128745	147128745	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:147128745C>A	uc003ewe.2	+	1	1565	c.846C>A	c.(844-846)CCC>CCA	p.P282P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	282	C2H2-type 2; atypical.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGGGCAAGCCCTTCAAAGCCA	0.602000												
CPB1	1360	broad.mit.edu	37	3	148545657	148545657	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:148545657A>G	uc003ewl.2	+	1	70	c.47A>G	c.(46-48)CAT>CGT	p.H16R		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	16				H -> A (in Ref. 1; AA sequence).	proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCATCTGCTCATCATGGTGGT	0.473000												
HLTF	6596	broad.mit.edu	37	3	148789134	148789134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:148789134G>A	uc003ewq.1	-	7	1017	c.799C>T	c.(799-801)CGA>TGA	p.R267*	HLTF_uc003ewr.1_Nonsense_Mutation_p.R267*|HLTF_uc003ews.1_Nonsense_Mutation_p.R267*|HLTF_uc010hve.1_Nonsense_Mutation_p.R267*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	267					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGTCATTTCGCTGTTCCCAG	0.393000												
FAM194A	131831	broad.mit.edu	37	3	150421356	150421356	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:150421356G>A	uc003eyg.2	-	1	387	c.330C>T	c.(328-330)TTC>TTT	p.F110F	FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	110										skin(2)|ovary(1)	3						GGCTGGGCACGAACGTAGAGG	0.642000												
MED12L	116931	broad.mit.edu	37	3	151112591	151112591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:151112591A>G	uc003eyp.2	+	37	5689	c.5651A>G	c.(5650-5652)AAG>AGG	p.K1884R	MED12L_uc011bnz.1_Missense_Mutation_p.K1744R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1884	Gln-rich.				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)			ATACAGATGAAGCTTCTGCAG	0.537000												
ZBBX	79740	broad.mit.edu	37	3	167035316	167035316	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:167035316A>G	uc003fep.2	-	13	1376	c.1053T>C	c.(1051-1053)GAT>GAC	p.D351D	ZBBX_uc011bpc.1_Silent_p.D351D|ZBBX_uc003feq.2_Silent_p.D322D	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	351						intracellular	zinc ion binding			ovary(2)	2						AACACTGTGCATCACCAGTGG	0.333000												
YEATS2	55689	broad.mit.edu	37	3	183503960	183503960	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183503960C>A	uc003fly.2	+	20	2979	c.2784C>A	c.(2782-2784)ACC>ACA	p.T928T	YEATS2_uc003flz.2_Silent_p.T7T	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	928					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)			CCGATAGCACCTTGAAGACTG	0.502000												
DVL3	1857	broad.mit.edu	37	3	183884401	183884401	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183884401A>G	uc003fms.2	+	10	1128	c.988A>G	c.(988-990)ACC>GCC	p.T330A	DVL3_uc011bqw.1_Missense_Mutation_p.T330A|DVL3_uc003fmt.2_Intron|DVL3_uc003fmu.2_Missense_Mutation_p.T162A	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	330					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)			CAGGCCCATCACCCTGACTGT	0.557000												
ABCF3	55324	broad.mit.edu	37	3	183906039	183906039	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183906039G>C	uc003fmz.2	+	7	813	c.680G>C	c.(679-681)AGT>ACT	p.S227T	ABCF3_uc003fna.2_Missense_Mutation_p.S221T|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	227	ABC transporter 1.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCACCCGGAGTCTGCGGGTT	0.612000												
CAMK2N2	94032	broad.mit.edu	37	3	183978963	183978963	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:183978963G>A	uc003fnj.1	-	1	289	c.111C>T	c.(109-111)TTC>TTT	p.F37F	ECE2_uc003fni.3_Intron	NM_033259	NP_150284	Q96S95	CK2N2_HUMAN	CaM-KII inhibitory protein	37						cytosol|nucleus	protein kinase inhibitor activity				0	all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			GGTTGCCCGCGAAGAAGGAGT	0.692000												
FETUB	26998	broad.mit.edu	37	3	186360342	186360342	+	Missense_Mutation	SNP	G	G	A	rs141401279		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:186360342G>A	uc010hyq.2	+	4	680	c.419G>A	c.(418-420)CGC>CAC	p.R140H	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.R140H|FETUB_uc003fqo.2_Missense_Mutation_p.R35H|FETUB_uc010hyr.2_Missense_Mutation_p.R103H|FETUB_uc010hys.2_Intron|FETUB_uc003fqp.3_Intron	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	140						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGTACTCTTCGCCCAGGTAAG	0.353000												
BCL6	604	broad.mit.edu	37	3	187446201	187446201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:187446201G>A	uc003frp.3	-	6	1944	c.1487C>T	c.(1486-1488)ACG>ATG	p.T496M	BCL6_uc011bsf.1_Missense_Mutation_p.T496M|BCL6_uc010hza.2_Missense_Mutation_p.T394M|BCL6_uc003frq.1_Missense_Mutation_p.T496M	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	496					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCAGGGAACGTGGGGCCAGC	0.602000			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
LPP	4026	broad.mit.edu	37	3	188123973	188123973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:188123973G>A	uc003frs.1	+	3	311	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	LPP_uc011bsg.1_Missense_Mutation_p.R22Q|LPP_uc011bsi.1_Missense_Mutation_p.R22Q|LPP_uc003frt.2_Missense_Mutation_p.R22Q	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	22					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGCCTGCACGGATGGAGACC	0.502000			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
GP5	2814	broad.mit.edu	37	3	194118562	194118562	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194118562C>A	uc003ftv.1	-	2	481	c.450G>T	c.(448-450)GAG>GAT	p.E150D		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	150	LRR 4.|Extracellular (Potential).				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)		TCAGAGCGAGCTCCTGCAGGT	0.483000												
ATP13A3	79572	broad.mit.edu	37	3	194150868	194150868	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194150868C>T	uc003fty.3	-	25	3112	c.2710G>A	c.(2710-2712)GAA>AAA	p.E904K	ATP13A3_uc003ftz.1_Missense_Mutation_p.E610K	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	904					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACTGAAGCTTCGAGCTCCGAT	0.383000												
ACAP2	23527	broad.mit.edu	37	3	195027343	195027343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:195027343C>T	uc003fun.3	-	13	1254	c.1013G>A	c.(1012-1014)AGT>AAT	p.S338N		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	338	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GAGCATGCAACTTCTAAAAGG	0.368000												
WDR53	348793	broad.mit.edu	37	3	196281462	196281462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:196281462G>A	uc003fwt.2	-	4	1168	c.697C>T	c.(697-699)CAG>TAG	p.Q233*		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	233	WD 4.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CCCAGTTCCTGTTCACACTTA	0.468000												
MFSD7	84179	broad.mit.edu	37	4	677076	677076	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:677076G>A	uc003gay.2	-	8	1134	c.1077C>T	c.(1075-1077)CCC>CCT	p.P359P	MFSD7_uc003gaw.2_Silent_p.P101P|MFSD7_uc003gax.2_Silent_p.P358P|MFSD7_uc003gaz.2_Silent_p.P240P|MFSD7_uc003gba.2_Silent_p.P262P|MFSD7_uc003gbb.1_Silent_p.P294P	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	359	Helical; (Potential).				transmembrane transport	integral to membrane					0						CCATGGCCACGGGGCCCACCG	0.667000												
CPLX1	10815	broad.mit.edu	37	4	780365	780365	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:780365T>A	uc003gbi.2	-	4	520	c.329A>T	c.(328-330)GAG>GTG	p.E110V	CPLX1_uc003gbj.2_Missense_Mutation_p.E89V	NM_006651	NP_006642	O14810	CPLX1_HUMAN	complexin 1	110					glutamate secretion	cytosol					0				Colorectal(103;0.187)		GTCCTCCTCCTCCACCTCGTC	0.711000												
LETM1	3954	broad.mit.edu	37	4	1834632	1834632	+	Missense_Mutation	SNP	G	G	A	rs144099418		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:1834632G>A	uc003gdv.2	-	6	1216	c.919C>T	c.(919-921)CGT>TGT	p.R307C		NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	307	Mitochondrial matrix (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGGAAAAACGCATGATTTCC	0.602000												
ZFYVE28	57732	broad.mit.edu	37	4	2306441	2306441	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:2306441G>A	uc003gex.1	-	8	1945	c.1626C>T	c.(1624-1626)GCC>GCT	p.A542A	ZFYVE28_uc011bvk.1_Silent_p.A472A|ZFYVE28_uc011bvl.1_Silent_p.A512A|ZFYVE28_uc003gew.1_Silent_p.A428A	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	542					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						CCATCCCCTCGGCCACGGGCT	0.667000												
SH3BP2	6452	broad.mit.edu	37	4	2831861	2831861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:2831861C>T	uc003gfi.3	+	8	1348	c.1228C>T	c.(1228-1230)CTC>TTC	p.L410F	SH3BP2_uc011bvp.1_Missense_Mutation_p.L438F|SH3BP2_uc003gfj.3_Missense_Mutation_p.L467F|SH3BP2_uc003gfk.3_Missense_Mutation_p.L410F|SH3BP2_uc003gfl.3_Missense_Mutation_p.L343F|SH3BP2_uc003gfm.3_Missense_Mutation_p.L385F	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	410					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAAGCCGCAGCTCCCGCACCT	0.706000									Cherubism			
C4orf6	10141	broad.mit.edu	37	4	5528018	5528018	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:5528018T>C	uc003gii.2	+	2	417	c.242T>C	c.(241-243)GTG>GCG	p.V81A		NM_005750	NP_005741	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	81					nervous system development						0						AACCCCAGTGTGACTGTCTCC	0.468000												
PPP2R2C	5522	broad.mit.edu	37	4	6325117	6325117	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:6325117G>T	uc003gjc.2	-	9	1626	c.1256C>A	c.(1255-1257)GCC>GAC	p.A419D	PPP2R2C_uc003gjb.2_Missense_Mutation_p.A402D|PPP2R2C_uc011bwd.1_Missense_Mutation_p.A412D|PPP2R2C_uc011bwe.1_Missense_Mutation_p.A412D|PPP2R2C_uc003gja.2_Missense_Mutation_p.A419D	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	419	WD 7.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CGGGTGCCAGGCCGTGTGCAG	0.577000												
MAN2B2	23324	broad.mit.edu	37	4	6611012	6611012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:6611012C>T	uc003gjf.1	+	12	2029	c.1993C>T	c.(1993-1995)CAG>TAG	p.Q665*	MAN2B2_uc003gje.1_Nonsense_Mutation_p.Q665*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.Q614*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	665					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGAGATCCGGCAGTACTTCTA	0.602000												
ACOX3	8310	broad.mit.edu	37	4	8401309	8401309	+	Missense_Mutation	SNP	C	C	T	rs142830697		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:8401309C>T	uc010idk.2	-	8	992	c.847G>A	c.(847-849)GAG>AAG	p.E283K	ACOX3_uc003glc.3_Missense_Mutation_p.E283K|ACOX3_uc003gld.3_Missense_Mutation_p.E283K|ACOX3_uc003gle.1_Missense_Mutation_p.E188K	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	283					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						TAGGTGCCCTCGGGGGTGACG	0.607000												
NCAPG	64151	broad.mit.edu	37	4	17838908	17838908	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:17838908G>A	uc003gpp.2	+	15	2412	c.2236G>A	c.(2236-2238)GTT>ATT	p.V746I	NCAPG_uc011bxj.1_Missense_Mutation_p.V255I	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	746					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		TGAAGAGGATGTTCAACTTCG	0.423000												
SLIT2	9353	broad.mit.edu	37	4	20597434	20597434	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:20597434G>A	uc003gpr.1	+	31	3501	c.3297G>A	c.(3295-3297)ACG>ACA	p.T1099T	SLIT2_uc003gps.1_Silent_p.T1091T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1099	EGF-like 5; calcium-binding (Potential).				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						ACGGCTATACGTGCATATGCC	0.333000												
RBPJ	3516	broad.mit.edu	37	4	26431567	26431567	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:26431567C>T	uc003grx.1	+	10	1211	c.975C>T	c.(973-975)GGC>GGT	p.G325G	RBPJ_uc003gry.1_Silent_p.G310G|RBPJ_uc003grz.1_Silent_p.G325G|RBPJ_uc011bxt.1_Silent_p.G325G|RBPJ_uc003gsa.1_Silent_p.G311G|RBPJ_uc003gsb.1_Silent_p.G312G|RBPJ_uc003gsc.1_Silent_p.G311G	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	325					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)				TAAATGATGGCGCTTCCTGGA	0.403000												
PCDH7	5099	broad.mit.edu	37	4	30723161	30723161	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:30723161C>T	uc003gsk.1	+	1	1125	c.117C>T	c.(115-117)GCC>GCT	p.A39A	PCDH7_uc011bxw.1_Silent_p.A39A|PCDH7_uc011bxx.1_Silent_p.A39A	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	39	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						ACCGGCTGGCCGAGGAGGGCC	0.716000												
ARAP2	116984	broad.mit.edu	37	4	36081868	36081868	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:36081868C>T	uc003gsq.1	-	31	4916	c.4578G>A	c.(4576-4578)ACG>ACA	p.T1526T		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1526	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TCATCCACTCCGTCTGAGTTC	0.383000												
DCAF4L1	285429	broad.mit.edu	37	4	41984375	41984375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:41984375C>T	uc003gwk.2	+	1	663	c.566C>T	c.(565-567)GCG>GTG	p.A189V		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	189										skin(1)	1						TGGTCCTGTGCGTGGTCCCTC	0.572000												
GSX2	170825	broad.mit.edu	37	4	54966575	54966575	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:54966575C>G	uc010igp.1	+	1	328	c.64C>G	c.(64-66)CTG>GTG	p.L22V	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	22						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TGCGCCCTCGCTGCCTGAACC	0.667000												
PAICS	10606	broad.mit.edu	37	4	57318172	57318172	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:57318172G>A	uc003hbs.1	+	8	1137	c.906G>A	c.(904-906)GCG>GCA	p.A302A	PAICS_uc011cac.1_Silent_p.A302A|PAICS_uc003hbt.1_Silent_p.A309A|PAICS_uc003hbu.1_Silent_p.A302A|PAICS_uc010ihd.1_Silent_p.A303A	NM_006452	NP_006443	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase,	302	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TAACATCTGCGCATAAAGGAC	0.383000												
LPHN3	23284	broad.mit.edu	37	4	62845386	62845386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:62845386C>T	uc010ihh.2	+	15	2880	c.2707C>T	c.(2707-2709)CGG>TGG	p.R903W	LPHN3_uc003hcq.3_Missense_Mutation_p.R903W|LPHN3_uc003hct.2_Missense_Mutation_p.R296W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	890	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TTGCTTTTTCCGGGGGCTCCA	0.493000												
SCARB2	950	broad.mit.edu	37	4	77095433	77095433	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:77095433A>G	uc003hju.1	-	7	1197	c.858T>C	c.(856-858)AGT>AGC	p.S286S	SCARB2_uc011cbu.1_Silent_p.S143S	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	286	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			GTCCCTGTACACTCTCATAGT	0.443000												
THAP9	79725	broad.mit.edu	37	4	83838125	83838125	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:83838125G>T	uc003hnt.2	+	5	879	c.760G>T	c.(760-762)GGT>TGT	p.G254C	THAP9_uc003hns.1_Missense_Mutation_p.G110C|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Translation_Start_Site	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	254							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				ACCCAGTCCAGGTTTCAACAG	0.348000												
LIN54	132660	broad.mit.edu	37	4	83905920	83905920	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:83905920A>G	uc003hnx.3	-	2	456	c.78T>C	c.(76-78)GAT>GAC	p.D26D	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Silent_p.D26D|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	lin-54 homolog isoform a	26					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)				CAATACTATCATCATCCACTA	0.433000												
NKX6-1	4825	broad.mit.edu	37	4	85414577	85414577	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85414577G>T	uc003hpa.1	-	3	975	c.969C>A	c.(967-969)GAC>GAA	p.D323E		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	323	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612000												
FAM13A	10144	broad.mit.edu	37	4	89653284	89653284	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:89653284G>A	uc003hse.1	-	22	2920	c.2712C>T	c.(2710-2712)ACC>ACT	p.T904T	FAM13A_uc011cdp.1_Silent_p.T6T|FAM13A_uc003hsa.1_Silent_p.T347T|FAM13A_uc003hsb.1_Silent_p.T578T|FAM13A_uc003hsd.1_Silent_p.T550T|FAM13A_uc003hsc.1_Silent_p.T564T|FAM13A_uc011cdq.1_Silent_p.T550T|FAM13A_uc003hsf.1_Silent_p.T490T|FAM13A_uc003hsg.1_Silent_p.T347T	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	904					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CACTGAAATCGGTTTTCAGAG	0.443000												
UNC5C	8633	broad.mit.edu	37	4	96140171	96140171	+	Missense_Mutation	SNP	C	C	T	rs148691835		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:96140171C>T	uc003htp.1	-	9	1748	c.1594G>A	c.(1594-1596)GCA>ACA	p.A532T	UNC5C_uc010ilc.1_Missense_Mutation_p.A551T|UNC5C_uc003htq.2_Missense_Mutation_p.A551T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	532	Cytoplasmic (Potential).|ZU5.				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)		CTGCCAAATGCGGTACAGGAT	0.478000												
DDIT4L	115265	broad.mit.edu	37	4	101108887	101108887	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:101108887C>A	uc003hvq.2	-	3	732	c.529G>T	c.(529-531)GTT>TTT	p.V177F		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	177					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTTTTCTTAACAAGTCGAAAT	0.383000												
ENPEP	2028	broad.mit.edu	37	4	111474510	111474510	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:111474510T>G	uc003iab.3	+	18	2883	c.2541T>G	c.(2539-2541)ACT>ACG	p.T847T		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	847	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTATTAAAACTCAGGATGTGT	0.368000												
ARSJ	79642	broad.mit.edu	37	4	114824717	114824717	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:114824717C>T	uc003ibq.1	-	2	1401	c.513G>A	c.(511-513)ACG>ACA	p.T171T	ARSJ_uc010imu.1_Silent_p.T171T|ARSJ_uc010imv.1_5'UTR	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	171						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGACCATATGCGTTGAATATC	0.453000												
KIAA1109	84162	broad.mit.edu	37	4	123193562	123193562	+	Splice_Site	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:123193562T>C	uc003ieh.2	+	46	8491	c.8446_splice	c.e46+2	p.D2816_splice	KIAA1109_uc003iel.1_Splice_Site_p.D751_splice|KIAA1109_uc003iek.2_Splice_Site_p.D1435_splice	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						AAATGAAAGGTATGAATGATT	0.363000												
FAT4	79633	broad.mit.edu	37	4	126372724	126372724	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:126372724T>C	uc003ifj.3	+	9	10553	c.10553T>C	c.(10552-10554)ATG>ACG	p.M3518T	FAT4_uc011cgp.1_Missense_Mutation_p.M1816T|FAT4_uc003ifi.1_Missense_Mutation_p.M996T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3518	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGAGAAGTCATGGAAAACAAA	0.488000												
PCDH10	57575	broad.mit.edu	37	4	134073510	134073510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:134073510C>T	uc003iha.2	+	1	3041	c.2215C>T	c.(2215-2217)CGT>TGT	p.R739C	PCDH10_uc003igz.2_Missense_Mutation_p.R739C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	739	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTGGCCGTGCGTTGCCAAAA	0.592000												
INPP4B	8821	broad.mit.edu	37	4	143045801	143045801	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:143045801C>T	uc003iix.3	-	20	2428	c.1833G>A	c.(1831-1833)GCG>GCA	p.A611A	INPP4B_uc003iiw.3_Silent_p.A611A|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.A426A|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.A482A	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	611					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCAAGCTGTACGCAAGTTCCT	0.502000												
HHIP	64399	broad.mit.edu	37	4	145629318	145629318	+	Splice_Site	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:145629318A>G	uc003ijs.1	+	7	1813	c.1158_splice	c.e7-2	p.S386_splice		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor							cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCAATTTCTCAGTGATTTCAC	0.413000												
ZNF827	152485	broad.mit.edu	37	4	146791492	146791492	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:146791492G>T	uc003ikn.2	-	5	1934	c.1886C>A	c.(1885-1887)TCT>TAT	p.S629Y	ZNF827_uc003ikm.2_Missense_Mutation_p.S629Y|ZNF827_uc010iox.2_Missense_Mutation_p.S279Y	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGCGTCCTCAGAGACGCCTGG	0.547000												
LRBA	987	broad.mit.edu	37	4	151388891	151388891	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:151388891G>A	uc010ipj.2	-	45	7221	c.6747C>T	c.(6745-6747)GTC>GTT	p.V2249V	LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Silent_p.V139V|LRBA_uc003ilt.3_Silent_p.V897V|LRBA_uc003ilu.3_Silent_p.V2238V	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2249	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AATTAGTGATGACCCAAGGAA	0.328000												
LRBA	987	broad.mit.edu	37	4	151749605	151749605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:151749605C>T	uc010ipj.2	-	30	5372	c.4898G>A	c.(4897-4899)GGC>GAC	p.G1633D	LRBA_uc003ilt.3_Missense_Mutation_p.G292D|LRBA_uc003ilu.3_Missense_Mutation_p.G1633D	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1633						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGCATCTGGGCCTGCACTGAC	0.488000												
KIAA0922	23240	broad.mit.edu	37	4	154519885	154519885	+	Splice_Site	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:154519885G>A	uc003inm.3	+	21	2315	c.2263_splice	c.e21+1	p.Q755_splice	KIAA0922_uc010ipp.2_Splice_Site_p.Q756_splice|KIAA0922_uc010ipq.2_Splice_Site_p.Q524_splice	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2							integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TGCCGTAGACGTGAGTTCATA	0.423000												
FSTL5	56884	broad.mit.edu	37	4	162402271	162402271	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:162402271C>A	uc003iqh.2	-	13	1945	c.1509G>T	c.(1507-1509)TGG>TGT	p.W503C	FSTL5_uc003iqi.2_Missense_Mutation_p.W502C|FSTL5_uc010iqv.2_Missense_Mutation_p.W493C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	503						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCTGATGCCCACACACACC	0.388000												
FSTL5	56884	broad.mit.edu	37	4	163032431	163032431	+	Nonsense_Mutation	SNP	G	G	A	rs141917472	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:163032431G>A	uc003iqh.2	-	2	554	c.118C>T	c.(118-120)CGA>TGA	p.R40*	FSTL5_uc003iqi.2_Nonsense_Mutation_p.R40*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.R40*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	40						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCTTATGTCGCAATCTCATT	0.393000												
NPY5R	4889	broad.mit.edu	37	4	164272058	164272058	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:164272058T>C	uc003iqn.2	+	4	815	c.633T>C	c.(631-633)TTT>TTC	p.F211F		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	211	Helical; Name=5; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GAATTGCCTTTACTATCTCTT	0.388000												
ANXA10	11199	broad.mit.edu	37	4	169105789	169105789	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:169105789G>A	uc003irm.2	+	11	1008	c.863G>A	c.(862-864)CGA>CAA	p.R288Q	ANXA10_uc003irn.2_Missense_Mutation_p.R160Q	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	annexin A10	288	Annexin 4.						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)		ATAAGGAAACGATACAAAGAG	0.363000												
SH3RF1	57630	broad.mit.edu	37	4	170077617	170077617	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:170077617C>A	uc003isa.1	-	3	942	c.607G>T	c.(607-609)GCA>TCA	p.A203S	SH3RF1_uc010irc.1_5'UTR	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	203	SH3 2.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCATAAAGTGCTTTGCACTGA	0.433000												
GLRA3	8001	broad.mit.edu	37	4	175749958	175749958	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:175749958G>T	uc003ity.1	-	1	508	c.5C>A	c.(4-6)GCC>GAC	p.A2D	GLRA3_uc003itz.1_Missense_Mutation_p.A2D|uc003iua.1_5'Flank|uc003iub.1_5'Flank	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	2					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TCTCACGTGGGCCATGATACG	0.453000												
VEGFC	7424	broad.mit.edu	37	4	177650714	177650714	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:177650714C>A	uc003ius.1	-	2	764	c.334G>T	c.(334-336)GCA>TCA	p.A112S		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	112					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTATAATGTGCTGCAGCAAAT	0.378000												
ODZ3	55714	broad.mit.edu	37	4	183651421	183651421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:183651421C>T	uc003ivd.1	+	14	2691	c.2654C>T	c.(2653-2655)TCG>TTG	p.S885L	ODZ3_uc003ive.1_Missense_Mutation_p.S291L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	885	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)		GTAAATGTCTCGTTTTTCCAT	0.408000												
AHRR	57491	broad.mit.edu	37	5	424011	424011	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:424011G>A	uc003jav.2	+	7	683	c.639G>A	c.(637-639)ACG>ACA	p.T213T	AHRR_uc003jaw.2_Silent_p.T209T|AHRR_uc010isy.2_Silent_p.T59T|AHRR_uc010isz.2_Silent_p.T209T|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Silent_p.T69T	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACAGGCACGCCCACCGAGT	0.667000												
CEP72	55722	broad.mit.edu	37	5	640665	640665	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:640665C>T	uc003jbf.2	+	9	1557	c.1485C>T	c.(1483-1485)CAC>CAT	p.H495H		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	495	Potential.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGCAGCAGCACGCCCGGGAGA	0.637000												
TRIP13	9319	broad.mit.edu	37	5	896840	896840	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:896840C>A	uc003jbr.2	+	3	429	c.319C>A	c.(319-321)CCC>ACC	p.P107T	TRIP13_uc010ite.1_Missense_Mutation_p.P107T	NM_004237	NP_004228	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	107					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGAAGATGGCCCCAGCAGTGA	0.463000												
IRX2	153572	broad.mit.edu	37	5	2749519	2749519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:2749519G>A	uc003jda.2	-	2	874	c.632C>T	c.(631-633)ACG>ATG	p.T211M	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.T211M	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGAGGTCTCCGTGCCCTCCTG	0.667000												
ADAMTS16	170690	broad.mit.edu	37	5	5306750	5306750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:5306750G>A	uc003jdl.2	+	21	3458	c.3320G>A	c.(3319-3321)CGT>CAT	p.R1107H		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1107	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GAGCTGGAACGTGCCTGCGCC	0.577000												
CTNND2	1501	broad.mit.edu	37	5	11384885	11384885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:11384885C>T	uc003jfa.1	-	7	1214	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	CTNND2_uc010itt.2_Missense_Mutation_p.A266T|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	357					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GACAGGGTGGCGTACGTGCCG	0.697000												
DNAH5	1767	broad.mit.edu	37	5	13729644	13729644	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:13729644A>G	uc003jfd.2	-	69	11829	c.11787T>C	c.(11785-11787)GCT>GCC	p.A3929A	DNAH5_uc003jfc.2_Silent_p.A97A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3929					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)					TTGGAGGACAAGCTTTAAGGT	0.338000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13809285	13809285	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:13809285C>T	uc003jfd.2	-	46	7662	c.7620G>A	c.(7618-7620)ACG>ACA	p.T2540T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2540					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)					TGTTCCAGTGCGTCCATGTAC	0.448000									Kartagener_syndrome			
CDH10	1008	broad.mit.edu	37	5	24511519	24511519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:24511519G>A	uc003jgr.1	-	6	1251	c.919C>T	c.(919-921)CGA>TGA	p.R307*	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	307	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCAATAATTCGGTATTCTACT	0.438000										HNSCC(23;0.051)		
CDH9	1007	broad.mit.edu	37	5	26902626	26902626	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:26902626C>A	uc003jgs.1	-	7	1381	c.1212G>T	c.(1210-1212)CAG>CAT	p.Q404H		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	404	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ATGCTGTAACCTGTCCAATGA	0.323000												
RNASEN	29102	broad.mit.edu	37	5	31526816	31526816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:31526816C>T	uc003jhg.2	-	4	583	c.224G>A	c.(223-225)CGA>CAA	p.R75Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R75Q|RNASEN_uc003jhi.2_Missense_Mutation_p.R75Q|RNASEN_uc010iui.1_Missense_Mutation_p.R66Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	75	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AAAGTCTGGTCGTGGAGGGAG	0.582000												
PDZD2	23037	broad.mit.edu	37	5	32072392	32072392	+	Silent	SNP	G	G	A	rs112339948	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:32072392G>A	uc003jhl.2	+	17	3082	c.2694G>A	c.(2692-2694)TCG>TCA	p.S898S	PDZD2_uc003jhm.2_Silent_p.S898S|PDZD2_uc011cnx.1_Silent_p.S724S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	898					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCAGCACGTCGGAGGAGGGCA	0.627000												
RAD1	5810	broad.mit.edu	37	5	34915031	34915031	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:34915031C>A	uc003jix.2	-	2	296	c.-33G>T	c.(-35--31)CAGGA>CATGA		RAD1_uc003jiw.2_Translation_Start_Site|RAD1_uc003jiy.2_Translation_Start_Site|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog						DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGGGATGCTCCTGGGGCCAAC	0.592000								Other_conserved_DNA_damage_response_genes				
OXCT1	5019	broad.mit.edu	37	5	41850186	41850186	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:41850186C>T	uc003jmn.2	-	5	841	c.510G>A	c.(508-510)TCG>TCA	p.S170S		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	170					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	ATTTGATGGGCGATCCTCCTT	0.512000												
OXCT1	5019	broad.mit.edu	37	5	41853524	41853524	+	Silent	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:41853524T>A	uc003jmn.2	-	4	742	c.411A>T	c.(409-411)CCA>CCT	p.P137P		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	137					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	TTCTCACCTGTGGTGTCAGCT	0.368000												
DEPDC1B	55789	broad.mit.edu	37	5	59940657	59940657	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:59940657G>A	uc003jsh.2	-	5	697	c.624C>T	c.(622-624)GAC>GAT	p.D208D	DEPDC1B_uc011cqm.1_Silent_p.D208D|DEPDC1B_uc011cqn.1_Silent_p.D181D	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	208	Rho-GAP.				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)				CAAGTTTGACGTCTAAAACTT	0.299000												
ADAMTS6	11174	broad.mit.edu	37	5	64595832	64595832	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:64595832G>A	uc003jtp.2	-	10	2164	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Silent_p.D71D	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGGTGATGTAGTCTCGACTGC	0.433000												
MARVELD2	153562	broad.mit.edu	37	5	68715652	68715652	+	Missense_Mutation	SNP	G	G	A	rs143318841		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:68715652G>A	uc003jwq.2	+	2	499	c.440G>A	c.(439-441)CGG>CAG	p.R147Q	MARVELD2_uc010ixf.2_Missense_Mutation_p.R147Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R147Q|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	147	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TTTAGTTCCCGGAAAGAGGCT	0.532000												
MAP1B	4131	broad.mit.edu	37	5	71490660	71490660	+	Missense_Mutation	SNP	G	G	A	rs140205740		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:71490660G>A	uc003kbw.3	+	5	1719	c.1478G>A	c.(1477-1479)AGC>AAC	p.S493N	MAP1B_uc010iyw.1_Missense_Mutation_p.S510N|MAP1B_uc010iyx.1_Missense_Mutation_p.S367N|MAP1B_uc010iyy.1_Missense_Mutation_p.S367N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	493						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)		CCTGGGAACAGCACCCAGTAC	0.502000												
POC5	134359	broad.mit.edu	37	5	74981154	74981154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:74981154C>T	uc003keh.3	-	10	1482	c.1285G>A	c.(1285-1287)GCG>ACG	p.A429T	POC5_uc010izu.2_Missense_Mutation_p.A312T|POC5_uc003keg.3_Missense_Mutation_p.A404T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	proteome of centriole 5 isoform 1	429					cell cycle	centriole				lung(1)	1						ACGGCAGTCGCGCTGGCTCCT	0.572000												
CMYA5	202333	broad.mit.edu	37	5	79028654	79028654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:79028654G>A	uc003kgc.2	+	2	4138	c.4066G>A	c.(4066-4068)GCA>ACA	p.A1356T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1356						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)		AACAACTACAGCATCTGTAAC	0.383000												
GPR98	84059	broad.mit.edu	37	5	89979908	89979908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:89979908C>T	uc003kju.2	+	28	6266	c.6170C>T	c.(6169-6171)ACA>ATA	p.T2057I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2057	Calx-beta 14.|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)		AGTGAGGCAACAATAGCTATT	0.403000												
ST8SIA4	7903	broad.mit.edu	37	5	100238558	100238558	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:100238558C>T	uc003knk.2	-	1	430	c.102G>A	c.(100-102)ACG>ACA	p.T34T	ST8SIA4_uc003knl.2_Silent_p.T34T	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	34	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CGATGAGTTGCGTCTCCTGGT	0.413000												
PAM	5066	broad.mit.edu	37	5	102237087	102237087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:102237087C>T	uc003knw.2	+	3	611	c.238C>T	c.(238-240)CGA>TGA	p.R80*	PAM_uc003kns.2_Nonsense_Mutation_p.R80*|PAM_uc003knt.2_Nonsense_Mutation_p.R80*|PAM_uc003knu.2_Nonsense_Mutation_p.R80*|PAM_uc003knv.2_Nonsense_Mutation_p.R80*|PAM_uc011cuz.1_Intron	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	80	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATGTCTATGCGAATACCAGT	0.348000												
MCC	4163	broad.mit.edu	37	5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:112824048T>C	uc003kql.3	-	1	480	c.64A>G	c.(64-66)AGC>GGC	p.S22G		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.388000												
KCNN2	3781	broad.mit.edu	37	5	113698754	113698754	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:113698754C>T	uc003kqo.2	+	1	739	c.282C>T	c.(280-282)GGC>GGT	p.G94G		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	94	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		gaggaggcggcggcggtggcg	0.383000												
SNX24	28966	broad.mit.edu	37	5	122272504	122272504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:122272504C>T	uc011cwo.1	+	2	305	c.136C>T	c.(136-138)CAC>TAC	p.H46Y	SNX24_uc003ktf.2_Missense_Mutation_p.H46Y|SNX24_uc010jcy.2_Missense_Mutation_p.H46Y	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	SBBI31 protein	46	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TCATGCTTTGCACAAAAAGGT	0.313000												
CHSY3	337876	broad.mit.edu	37	5	129521085	129521085	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:129521085T>C	uc003kvd.2	+	3	2250	c.2250T>C	c.(2248-2250)TAT>TAC	p.Y750Y		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	750	Lumenal (Potential).					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)		TTAGCCAGTATGACCCAAAGG	0.408000												
NEUROG1	4762	broad.mit.edu	37	5	134871112	134871112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:134871112C>T	uc003lax.2	-	1	528	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	90					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGGCTCCTGCGCAGCGAGTG	0.731000												
LOC153328	153328	broad.mit.edu	37	5	135186132	135186132	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:135186132G>A	uc003laz.1	+	3	281	c.109G>A	c.(109-111)GTT>ATT	p.V37I	LOC153328_uc003lba.2_Missense_Mutation_p.V37I			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	37	Solcar 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGGCTGGCGTTGGCTACGG	0.627000												
SPOCK1	6695	broad.mit.edu	37	5	136834173	136834173	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:136834173G>A	uc003lbo.2	-	1	266	c.75C>T	c.(73-75)GAC>GAT	p.D25D	SPOCK1_uc003lbp.2_Silent_p.D25D	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	25					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGAGCGCGTCCAGGTGCC	0.697000												
MYOT	9499	broad.mit.edu	37	5	137221839	137221839	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137221839C>A	uc011cye.1	+	8	1144	c.1127C>A	c.(1126-1128)CCT>CAT	p.P376H	MYOT_uc003lbv.2_Missense_Mutation_p.P376H|MYOT_uc011cyg.1_Missense_Mutation_p.P192H|MYOT_uc011cyh.1_Missense_Mutation_p.P261H	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	376	Necessary for interaction with ACTA1.|Ig-like C2-type 2.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCGGCTATACCTCCACCAAAG	0.343000												
FAM13B	51306	broad.mit.edu	37	5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137288332G>A	uc003lbz.2	-	16	2383	c.1849C>T	c.(1849-1851)CGG>TGG	p.R617W	FAM13B_uc003lcb.2_Missense_Mutation_p.R521W|FAM13B_uc003lca.2_Missense_Mutation_p.R617W	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	617					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ATTTGCTTCCGCAGTTTTGTA	0.313000												
EGR1	1958	broad.mit.edu	37	5	137802757	137802757	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:137802757C>T	uc003ldb.1	+	2	889	c.619C>T	c.(619-621)CCC>TCC	p.P207S	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	207					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCAGCGGCACCCACCTTCCC	0.657000												
C5orf32	84418	broad.mit.edu	37	5	139574029	139574029	+	Splice_Site	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:139574029A>C	uc003lfd.2	+	2	219	c.-19_splice	c.e2-2		C5orf32_uc010jfi.2_Intron	NM_032412	NP_115788	Q9H1C7	CE032_HUMAN	hypothetical protein LOC84418												0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTCTCTTAGGTGCACTTT	0.428000												
PCDHA1	56147	broad.mit.edu	37	5	140167456	140167456	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140167456G>A	uc003lhb.2	+	1	1581	c.1581G>A	c.(1579-1581)GAG>GAA	p.E527E	PCDHA1_uc003lha.2_Silent_p.E527E|PCDHA1_uc003lgz.2_Silent_p.E527E	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	527	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGAGGAGCTGGAGCTGC	0.677000												
PCDHA10	56139	broad.mit.edu	37	5	140237453	140237453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140237453C>T	uc003lhx.2	+	1	1820	c.1820C>T	c.(1819-1821)TCG>TTG	p.S607L	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_uc011dad.1_Missense_Mutation_p.S607L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	607	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCGTATGAATTG	0.632000												
PCDHA10	56139	broad.mit.edu	37	5	140237811	140237811	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140237811C>T	uc003lhx.2	+	1	2178	c.2178C>T	c.(2176-2178)ACC>ACT	p.T726T	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_uc011dad.1_Silent_p.T726T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCCCACCGAGGGCGCAT	0.652000												
PCDHA11	56138	broad.mit.edu	37	5	140250710	140250710	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140250710G>A	uc003lia.2	+	1	2880	c.2022G>A	c.(2020-2022)GCG>GCA	p.A674A	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_uc011dae.1_Silent_p.A674A	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	674	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGACAGGCGCCAAAGGCCT	0.662000												
PCDHA12	56137	broad.mit.edu	37	5	140256956	140256956	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140256956G>A	uc003lic.2	+	1	2026	c.1899G>A	c.(1897-1899)ACG>ACA	p.T633T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.T633T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGCATCC	0.677000												
PCDHA13	56136	broad.mit.edu	37	5	140261916	140261916	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140261916C>T	uc003lif.2	+	1	63	c.63C>T	c.(61-63)CTC>CTT	p.L21L	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_Silent_p.L21L|PCDHA13_uc003lid.2_Silent_p.L21L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATCCTCGCAGCCTGGG	0.592000												
PCDHA13	56136	broad.mit.edu	37	5	140263419	140263419	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140263419G>A	uc003lif.2	+	1	1566	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	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_Silent_p.P522P|PCDHA13_uc003lid.2_Silent_p.P522P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	522	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682000												
PCDHAC1	56135	broad.mit.edu	37	5	140307012	140307012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140307012G>A	uc003lih.2	+	1	711	c.535G>A	c.(535-537)GGC>AGC	p.G179S	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.G179S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	179	Cadherin 2.|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)			GCGGGTTGACGGCAGCGAATA	0.607000												
PCDHAC2	56134	broad.mit.edu	37	5	140348078	140348078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140348078C>T	uc003lii.2	+	1	1967	c.1727C>T	c.(1726-1728)GCC>GTC	p.A576V	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_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A576V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	576	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACCATGCCCCTCACATT	0.557000												
PCDHAC2	56134	broad.mit.edu	37	5	140348558	140348558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140348558C>T	uc003lii.2	+	1	2447	c.2207C>T	c.(2206-2208)GCG>GTG	p.A736V	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_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A736V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	736	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTACACTGCGTATGGCACT	0.418000												
PCDHB3	56132	broad.mit.edu	37	5	140482079	140482079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140482079G>A	uc003lio.2	+	1	1846	c.1846G>A	c.(1846-1848)GGC>AGC	p.G616S	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	616	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCTGTTCGGCGTGTGGGC	0.687000												
PCDHB12	56124	broad.mit.edu	37	5	140590138	140590138	+	Silent	SNP	C	C	T	rs139693592		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140590138C>T	uc003liz.2	+	1	1848	c.1659C>T	c.(1657-1659)GAC>GAT	p.D553D	PCDHB12_uc011dak.1_Silent_p.D216D	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	553	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.706000												
PCDHGA5	56110	broad.mit.edu	37	5	140745565	140745565	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140745565C>T	uc003lju.1	+	1	1668	c.1668C>T	c.(1666-1668)AAC>AAT	p.N556N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.N556N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	556	Extracellular (Potential).|Cadherin 5.				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)			TGGACCAGAACGACAATACGC	0.612000												
PCDHGB6	56100	broad.mit.edu	37	5	140787998	140787998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140787998G>A	uc003lkj.1	+	1	229	c.229G>A	c.(229-231)GTA>ATA	p.V77I	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_uc003lki.1_Missense_Mutation_p.V77I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	77	Extracellular (Potential).|Cadherin 1.				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)			GCACTTCAGCGTAGACGCGGA	0.552000												
PCDHGA10	56106	broad.mit.edu	37	5	140795118	140795118	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140795118C>T	uc003lkl.1	+	1	2376	c.2376C>T	c.(2374-2376)AAC>AAT	p.N792N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.N792N|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	792	Cytoplasmic (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)			GTGAGAAAAACGATCCTTTGT	0.433000												
DIAPH1	1729	broad.mit.edu	37	5	140953109	140953109	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140953109T>G	uc003llb.3	-	16	2449	c.2308A>C	c.(2308-2310)AAA>CAA	p.K770Q	DIAPH1_uc003llc.3_Missense_Mutation_p.K761Q|DIAPH1_uc010jgc.1_Missense_Mutation_p.K209Q	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	770	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGCTTTTTGGGGGTTAAT	0.478000												
DIAPH1	1729	broad.mit.edu	37	5	140958108	140958108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:140958108G>A	uc003llb.3	-	10	1159	c.1018C>T	c.(1018-1020)CGT>TGT	p.R340C	DIAPH1_uc003llc.3_Missense_Mutation_p.R331C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	340	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCCAAACGCATCAGTTCA	0.448000												
ARAP3	64411	broad.mit.edu	37	5	141044603	141044603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:141044603C>T	uc003llm.2	-	19	2764	c.2686G>A	c.(2686-2688)GCA>ACA	p.A896T	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.A558T|ARAP3_uc003lln.2_Missense_Mutation_p.A798T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	896					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						CCAATGGCTGCGTTCCATGCC	0.642000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CSF1R	1436	broad.mit.edu	37	5	149449476	149449476	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:149449476G>A	uc003lrl.2	-	9	1665	c.1470C>T	c.(1468-1470)AGC>AGT	p.S490S	CSF1R_uc011dcd.1_Silent_p.S342S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S490S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	490	Ig-like C2-type 5.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACTCCCCACGCTGTTGTGGG	0.448000												
FAT2	2196	broad.mit.edu	37	5	150911530	150911530	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:150911530G>A	uc003lue.3	-	13	9442	c.9429C>T	c.(9427-9429)GGC>GGT	p.G3143G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3143	Extracellular (Potential).|Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCATTGGCGCCTGGCAGGG	0.652000												
GRIA1	2890	broad.mit.edu	37	5	152873616	152873616	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:152873616A>G	uc003lva.3	+	2	576	c.211A>G	c.(211-213)ACC>GCC	p.T71A	GRIA1_uc003luy.3_Missense_Mutation_p.T71A|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.T71A|GRIA1_uc011dcx.1_Missense_Mutation_p.T2A|GRIA1_uc011dcy.1_Missense_Mutation_p.T81A|GRIA1_uc011dcz.1_Missense_Mutation_p.T81A|GRIA1_uc010jia.1_Missense_Mutation_p.T51A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	71	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTTGAGATGACCTATAGATG	0.463000												
GALNT10	55568	broad.mit.edu	37	5	153760175	153760175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:153760175C>T	uc003lvh.2	+	6	1054	c.922C>T	c.(922-924)CCC>TCC	p.P308S	GALNT10_uc003lvg.1_Missense_Mutation_p.P308S|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.P149S	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	308	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAAAGCTGACCCCAGCGACCC	0.577000												
KIF4B	285643	broad.mit.edu	37	5	154394713	154394713	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154394713G>A	uc010jih.1	+	1	1454	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	432	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAACTGAACGCCAAGCTAGA	0.448000												
KIF4B	285643	broad.mit.edu	37	5	154396039	154396039	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154396039C>T	uc010jih.1	+	1	2780	c.2620C>T	c.(2620-2622)CTG>TTG	p.L874L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	874	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATTGGAGAGCTGGTCTCCTC	0.458000												
SOX30	11063	broad.mit.edu	37	5	157078494	157078494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:157078494C>T	uc003lxb.1	-	1	935	c.593G>A	c.(592-594)GGC>GAC	p.G198D	SOX30_uc003lxc.1_Missense_Mutation_p.G198D|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	198					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTGCCCCGCCTTGCATCGA	0.662000												
ODZ2	57451	broad.mit.edu	37	5	167674064	167674064	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:167674064C>T	uc010jjd.2	+	27	6093	c.6093C>T	c.(6091-6093)TTC>TTT	p.F2031F	ODZ2_uc003lzr.3_Silent_p.F1801F|ODZ2_uc003lzt.3_Silent_p.F1404F|ODZ2_uc010jje.2_Silent_p.F1295F	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)		CCGTCACCTTCGGGTATGACG	0.537000												
RARS	5917	broad.mit.edu	37	5	167929052	167929052	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:167929052A>G	uc003lzx.2	+	9	1040	c.999A>G	c.(997-999)AGA>AGG	p.R333R	RARS_uc011deo.1_Silent_p.R127R	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	333					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TAATAGAGAGAGGGGAATCCT	0.274000												
GPRIN1	114787	broad.mit.edu	37	5	176025652	176025652	+	Missense_Mutation	SNP	G	G	A	rs146734819		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:176025652G>A	uc003meo.1	-	2	1359	c.1184C>T	c.(1183-1185)ACG>ATG	p.T395M		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	395						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|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)			TGCTGAAGCCGTAGTATCCGT	0.537000												
RMND5B	64777	broad.mit.edu	37	5	177574760	177574760	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:177574760T>C	uc003mim.2	+	10	1174	c.994T>C	c.(994-996)TAC>CAC	p.Y332H	RMND5B_uc003min.2_Missense_Mutation_p.Y332H|RMND5B_uc003mio.2_Missense_Mutation_p.Y319H|RMND5B_uc003mip.2_Missense_Mutation_p.Y332H|RMND5B_uc011dgf.1_Missense_Mutation_p.Y373H|RMND5B_uc003miq.2_Missense_Mutation_p.Y272H	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	332										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GAAGTGCTGGTACCACTCCGT	0.562000												
TBC1D9B	23061	broad.mit.edu	37	5	179318408	179318408	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:179318408C>T	uc003mlh.2	-	6	1052	c.1015G>A	c.(1015-1017)GCT>ACT	p.A339T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A339T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A339T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	339	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGGCAAGCGTCCTCCTCC	0.592000												
FLT4	2324	broad.mit.edu	37	5	180048658	180048658	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180048658G>A	uc003mma.3	-	13	1983	c.1904C>T	c.(1903-1905)ACG>ATG	p.T635M	FLT4_uc003mlz.3_Missense_Mutation_p.T635M|FLT4_uc003mmb.1_Missense_Mutation_p.T168M|FLT4_uc011dgy.1_Missense_Mutation_p.T635M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	635	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGCTGAGCGTGGCGTGGCG	0.667000									Congenital_Hereditary_Lymphedema			
TRIM7	81786	broad.mit.edu	37	5	180622403	180622403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180622403C>T	uc003mmz.1	-	7	1366	c.1299G>A	c.(1297-1299)TGG>TGA	p.W433*	TRIM7_uc003mmv.1_Nonsense_Mutation_p.W251*|TRIM7_uc003mmw.1_Nonsense_Mutation_p.W225*|TRIM7_uc003mmx.1_Nonsense_Mutation_p.W225*|TRIM7_uc003mmy.1_Nonsense_Mutation_p.W225*	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	433	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCTGCAGGGCCCAGACGCCCT	0.731000												
FOXQ1	94234	broad.mit.edu	37	6	1313402	1313402	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:1313402T>C	uc003mtl.3	+	1	728	c.463T>C	c.(463-465)TTT>CTT	p.F155L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	155	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		CAAGTTCCCCTTTTTCCGCGG	0.652000												
NRN1	51299	broad.mit.edu	37	6	6002702	6002702	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:6002702C>T	uc003mwu.2	-	2	735	c.84G>A	c.(82-84)GCG>GCA	p.A28A	NRN1_uc003mwt.2_Silent_p.A54A	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	28						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGCACTTGCCCGCTGCTCTCA	0.652000												
RREB1	6239	broad.mit.edu	37	6	7229265	7229265	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7229265C>T	uc003mxc.2	+	10	1323	c.933C>T	c.(931-933)AGC>AGT	p.S311S	RREB1_uc003mxb.2_Silent_p.S311S|RREB1_uc010jnx.2_Silent_p.S311S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	311					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)				GGTGCATCAGCGAGCAACACC	0.522000												
BMP6	654	broad.mit.edu	37	6	7727469	7727469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7727469G>A	uc003mxu.3	+	1	459	c.281G>A	c.(280-282)CGG>CAG	p.R94Q		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	94					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CACCGGCCCCGGCCCCTGCAC	0.612000												
BMP6	654	broad.mit.edu	37	6	7727519	7727519	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:7727519G>C	uc003mxu.3	+	1	509	c.331G>C	c.(331-333)GAG>CAG	p.E111Q		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	111					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CCGgcagcaggaggagcagca	0.597000												
HIVEP1	3096	broad.mit.edu	37	6	12122840	12122840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:12122840A>G	uc003nac.2	+	4	2991	c.2812A>G	c.(2812-2814)AAG>GAG	p.K938E	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	938					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)				AGTGAGGAGCAAGGCACTGGC	0.473000												
GMPR	2766	broad.mit.edu	37	6	16290717	16290717	+	Missense_Mutation	SNP	T	T	C	rs143277148	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:16290717T>C	uc003nbs.2	+	8	836	c.722T>C	c.(721-723)CTG>CCG	p.L241P		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	241					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TTTGTCATGCTGGGAGGAATG	0.517000												
KAAG1	353219	broad.mit.edu	37	6	24358032	24358032	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:24358032G>A	uc003ndz.1	+	1	902	c.165G>A	c.(163-165)CCG>CCA	p.P55P	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	55					immune response						0						AGGCACCTCCGCTGTCCCAGC	0.672000												
LRRC16A	55604	broad.mit.edu	37	6	25600967	25600967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:25600967C>T	uc011djw.1	+	33	3921	c.3545C>T	c.(3544-3546)GCG>GTG	p.A1182V	LRRC16A_uc010jpx.2_Intron|LRRC16A_uc010jpy.2_Missense_Mutation_p.A1182V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1182					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GCTGCGTGTGCGCAGAAGGTA	0.373000												
SLC17A3	10786	broad.mit.edu	37	6	25851024	25851024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:25851024G>T	uc003nfi.3	-	6	670	c.560C>A	c.(559-561)TCA>TAA	p.S187*	SLC17A3_uc003nfk.3_Nonsense_Mutation_p.S265*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.S265*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.S187*	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	187					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						TTCTTTTTCTGAGGTGCTTAT	0.413000												
HIST1H1T	3010	broad.mit.edu	37	6	26108175	26108175	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:26108175G>A	uc003ngj.2	-	1	190	c.147C>T	c.(145-147)ACC>ACT	p.T49T		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	49	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						AAAGGGCCTCGGTGATCAACT	0.527000												
HIST1H2BC	8347	broad.mit.edu	37	6	26124113	26124113	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:26124113G>A	uc003ngk.3	-	1	42	c.20C>T	c.(19-21)TCT>TTT	p.S7F	HIST1H2BC_uc003ngl.2_Missense_Mutation_p.S7F|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						GGCGGGAGCAGACTTGGCTGG	0.507000												
ZSCAN16	80345	broad.mit.edu	37	6	28097417	28097417	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:28097417A>G	uc003nkm.2	+	4	836	c.736A>G	c.(736-738)AGT>GGT	p.S246G	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	246	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GAAAAGTTTCAGTCATAGCTC	0.418000												
OR12D3	81797	broad.mit.edu	37	6	29342456	29342456	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29342456G>A	uc003nme.2	-	1	613	c.609C>T	c.(607-609)AGC>AGT	p.S203S		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						CCATGGATATGCTGCCTGTGA	0.438000												
OR12D3	81797	broad.mit.edu	37	6	29342488	29342488	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29342488T>C	uc003nme.2	-	1	581	c.577A>G	c.(577-579)AAT>GAT	p.N193D		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3						AGCCATTGATTGAGTAATGTG	0.433000												
GABBR1	2550	broad.mit.edu	37	6	29574229	29574229	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29574229A>G	uc003nmt.3	-	19	2586	c.2250T>C	c.(2248-2250)ATT>ATC	p.I750I	GABBR1_uc003nmp.3_Silent_p.I633I|GABBR1_uc003nms.3_Silent_p.I633I|GABBR1_uc003nmu.3_Silent_p.I688I|GABBR1_uc011dlr.1_Silent_p.I573I	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	750	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TAGAGACGTCAATATCTTCCT	0.522000												
HLA-F	3134	broad.mit.edu	37	6	29691261	29691261	+	Silent	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29691261C>G	uc010jrl.2	+	1	145	c.21C>G	c.(19-21)CTC>CTG	p.L7L	HLA-F_uc003nnm.3_Silent_p.L7L|HLA-F_uc003nno.3_Silent_p.L7L|HLA-F_uc011dlx.1_Silent_p.L7L|HLA-F_uc011dly.1_5'Flank	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	7					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						GAAGCCTCCTCCTGCTGCTCT	0.667000												
HLA-F	3134	broad.mit.edu	37	6	29692211	29692211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29692211C>T	uc010jrl.2	+	3	720	c.596C>T	c.(595-597)ACG>ATG	p.T199M	HLA-F_uc003nnm.3_Missense_Mutation_p.T199M|HLA-F_uc003nno.3_Missense_Mutation_p.T199M|HLA-F_uc011dlx.1_Missense_Mutation_p.T199M|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	199	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						GGGAAGGAGACGCTACAGCGC	0.577000												
HLA-E	3133	broad.mit.edu	37	6	30459139	30459139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:30459139C>T	uc003nqg.2	+	4	874	c.836C>T	c.(835-837)ACG>ATG	p.T279M	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.T320M	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Ig-like C1-type.|Alpha-3.|Extracellular (Potential).				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			central_nervous_system(4)|ovary(1)	5						CAGAGATACACGTGCCATGTG	0.617000												
HLA-C	3107	broad.mit.edu	37	6	31239468	31239468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31239468C>T	uc003nsy.2	-	2	258	c.251G>A	c.(250-252)TGG>TAG	p.W84*	HLA-C_uc011dnj.1_Nonsense_Mutation_p.W56*|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Nonsense_Mutation_p.W84*|HLA-C_uc010jsl.2_Nonsense_Mutation_p.W84*|HLA-C_uc003nta.2_Nonsense_Mutation_p.W84*|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	84	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						CTCCCGGTCCCAATACTCCGG	0.667000												
HLA-B	3106	broad.mit.edu	37	6	31323266	31323266	+	Nonsense_Mutation	SNP	C	C	T	rs41553818		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31323266C>T	uc003nth.2	-	4	777	c.723G>A	c.(721-723)TGG>TGA	p.W241*	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.W120*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	241	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				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						CATCCCGCTGCCAGGTCAGTG	0.602000									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
MICB	4277	broad.mit.edu	37	6	31474138	31474138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31474138G>A	uc003ntn.3	+	3	660	c.544G>A	c.(544-546)GCT>ACT	p.A182T	MICB_uc011dnm.1_Missense_Mutation_p.A150T|MICB_uc003nto.3_Missense_Mutation_p.A139T	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	182	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						ACACTATCGCGCTATGCAGGC	0.537000												
NEU1	4758	broad.mit.edu	37	6	31829063	31829063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31829063A>G	uc003nxq.3	-	3	673	c.517T>C	c.(517-519)TGG>CGG	p.W173R	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.W4R|NEU1_uc003nxs.3_Missense_Mutation_p.W173R	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	173	BNR 2.					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCCTTGCTCCATACCAACATG	0.537000												
SLC44A4	80736	broad.mit.edu	37	6	31831489	31831489	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31831489C>A	uc010jti.2	-	21	2114	c.2048G>T	c.(2047-2049)CGG>CTG	p.R683L	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	683	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GTAGTAGGGCCGGTCCAGGGA	0.557000												
TNXB	7148	broad.mit.edu	37	6	32015672	32015672	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32015672T>C	uc003nzl.2	-	30	10359	c.10157A>G	c.(10156-10158)CAG>CGG	p.Q3386R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3433	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ATCCTTGTACTGGACCACGAA	0.632000												
FKBPL	63943	broad.mit.edu	37	6	32097454	32097454	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32097454A>C	uc003nzr.2	-	2	374	c.104T>G	c.(103-105)ATT>AGT	p.I35S	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	35					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						CTGCTGCCTAATCTGAATAAC	0.498000												
COL11A2	1302	broad.mit.edu	37	6	33132135	33132135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:33132135C>T	uc003ocx.1	-	65	5207	c.4979G>A	c.(4978-4980)CGT>CAT	p.R1660H	COL11A2_uc010jul.1_Missense_Mutation_p.R230H|COL11A2_uc003ocy.1_Missense_Mutation_p.R1574H|COL11A2_uc003ocz.1_Missense_Mutation_p.R1553H	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1660	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGGACCGTCACGGGCTGCTCC	0.627000												
SLC39A7	7922	broad.mit.edu	37	6	33170084	33170084	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:33170084A>G	uc003odf.2	+	5	796	c.679A>G	c.(679-681)ATT>GTT	p.I227V	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.I227V|SLC39A7_uc011dqv.1_Missense_Mutation_p.I102V|SLC39A7_uc003odh.2_5'UTR|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	227	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						TCTCAGTGGAATTGTTGCCTT	0.512000												
SCUBE3	222663	broad.mit.edu	37	6	35216468	35216468	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:35216468A>G	uc003okf.1	+	22	2974	c.2968A>G	c.(2968-2970)AGG>GGG	p.R990G	SCUBE3_uc003okg.1_Missense_Mutation_p.R989G|SCUBE3_uc003okh.1_Missense_Mutation_p.R877G	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	990					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						CAGCTTCCTGAGGCCCTACAA	0.522000												
BRPF3	27154	broad.mit.edu	37	6	36177640	36177640	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:36177640T>C	uc003olv.3	+	5	2038	c.1814T>C	c.(1813-1815)CTG>CCG	p.L605P	BRPF3_uc010jwb.2_Missense_Mutation_p.L605P|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.L605P	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	605					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CTGGACCTGCTGCAGGAGAAG	0.512000												
DNAH8	1769	broad.mit.edu	37	6	38897349	38897349	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:38897349A>G	uc003ooe.1	+	73	11130	c.10530A>G	c.(10528-10530)CGA>CGG	p.R3510R	DNAH8_uc003oog.1_5'UTR|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						CCTTGGGCCGACCCCTTCTCA	0.413000												
UNC5CL	222643	broad.mit.edu	37	6	41002503	41002503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:41002503G>A	uc003opi.2	-	2	400	c.311C>T	c.(310-312)TCG>TTG	p.S104L	UNC5CL_uc010jxe.1_Missense_Mutation_p.S104L	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	104	ZU5.|Cytoplasmic (Potential).				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCTCGAGCCGAAAACACCAA	0.562000												
TRERF1	55809	broad.mit.edu	37	6	42231247	42231247	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:42231247C>T	uc003osd.2	-	8	2258	c.1695G>A	c.(1693-1695)CCG>CCA	p.P565P	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.P565P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	565	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gcggcggaggcggaggcggag	0.383000												
ABCC10	89845	broad.mit.edu	37	6	43401046	43401046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:43401046G>A	uc003ouy.1	+	3	1543	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H	ABCC10_uc003ouz.1_Missense_Mutation_p.R400H|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	443	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ATTGCCACCCGCATCATGGCC	0.587000												
MEP1A	4224	broad.mit.edu	37	6	46797282	46797282	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:46797282A>C	uc010jzh.1	+	10	1160	c.1118A>C	c.(1117-1119)AAG>ACG	p.K373T	MEP1A_uc011dwg.1_Missense_Mutation_p.K95T|MEP1A_uc011dwh.1_Missense_Mutation_p.K401T|MEP1A_uc011dwi.1_Missense_Mutation_p.K273T	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	373	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)			AATGTTCGCAAGTTGGTGAAG	0.413000												
GPR110	266977	broad.mit.edu	37	6	46976905	46976905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:46976905C>T	uc003oyt.2	-	11	2465	c.2266G>A	c.(2266-2268)GCT>ACT	p.A756T	GPR110_uc011dwl.1_Missense_Mutation_p.A444T	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	756	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						AAGTTCACAGCCACAATAGCC	0.507000												
PKHD1	5314	broad.mit.edu	37	6	51889477	51889477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:51889477C>T	uc003pah.1	-	32	5407	c.5131G>A	c.(5131-5133)GCC>ACC	p.A1711T	PKHD1_uc003pai.2_Missense_Mutation_p.A1711T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1711	IPT/TIG 12; atypical.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACTCCCCGGCCGGAAGGGAA	0.527000												
PKHD1	5314	broad.mit.edu	37	6	51934317	51934317	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:51934317A>C	uc003pah.1	-	11	992	c.716T>G	c.(715-717)GTC>GGC	p.V239G	PKHD1_uc003pai.2_Missense_Mutation_p.V239G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	239	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTTCTTGTGGACCATTGACCT	0.433000												
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:55128600C>T	uc003pcl.2	+	4	1057	c.742C>T	c.(742-744)CGC>TGC	p.R248C	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	248	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)			GCAAATATTTCGCAAACTCTG	0.373000												
DST	667	broad.mit.edu	37	6	56328498	56328498	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:56328498A>G	uc003pdf.2	-	94	16423	c.16395T>C	c.(16393-16395)GGT>GGC	p.G5465G	DST_uc003pcz.3_Silent_p.G5287G|DST_uc011dxj.1_Silent_p.G5316G|DST_uc011dxk.1_Silent_p.G5327G|DST_uc003pcy.3_Silent_p.G4961G|DST_uc003pcv.3_Silent_p.G83G|DST_uc003pcw.3_Silent_p.G44G|DST_uc003pcx.3_Silent_p.G44G	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7397					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGCAGCCATACCCTGGCTGG	0.542000												
KHDRBS2	202559	broad.mit.edu	37	6	62442601	62442601	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:62442601C>T	uc003peg.2	-	7	1126	c.879G>A	c.(877-879)GCG>GCA	p.A293A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGTTTGGGTCGCATAGCTGT	0.378000												
KHDRBS2	202559	broad.mit.edu	37	6	62757868	62757868	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:62757868C>A	uc003peg.2	-	3	498	c.251G>T	c.(250-252)AGA>ATA	p.R84I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	84	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAGTTTCCTCTTGGTCCAAG	0.368000												
EYS	346007	broad.mit.edu	37	6	66115078	66115078	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:66115078T>C	uc011dxu.1	-	6	1583	c.1045A>G	c.(1045-1047)AAA>GAA	p.K349E	EYS_uc003peq.2_Missense_Mutation_p.K349E|EYS_uc003per.1_Missense_Mutation_p.K349E	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	349	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TTTGATATTTTGATGCAGTCA	0.303000												
B3GAT2	135152	broad.mit.edu	37	6	71603915	71603915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:71603915C>T	uc003pfv.2	-	2	1308	c.652G>A	c.(652-654)GAA>AAA	p.E218K	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.E218K	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	218	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGCGGACGTTCGTAGCGCCGC	0.557000												
B3GAT2	135152	broad.mit.edu	37	6	71603921	71603921	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:71603921G>A	uc003pfv.2	-	2	1302	c.646C>T	c.(646-648)CGC>TGC	p.R216C	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R216C	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	216	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CGTTCGTAGCGCCGCCCACCA	0.542000												
RIMS1	22999	broad.mit.edu	37	6	72892050	72892050	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:72892050C>T	uc003pga.2	+	6	953	c.876C>T	c.(874-876)CGC>CGT	p.R292R	RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	292					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCGGAAACGCGTGCCAAAGA	0.562000												
CD109	135228	broad.mit.edu	37	6	74476679	74476679	+	Silent	SNP	G	G	A	rs147947606	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:74476679G>A	uc003php.2	+	13	1868	c.1443G>A	c.(1441-1443)TCG>TCA	p.S481S	CD109_uc010kaz.2_Silent_p.S481S|CD109_uc003phq.2_Silent_p.S481S|CD109_uc010kba.2_Silent_p.S404S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	481						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						AGGTGGGATCGCCTTTTGAGT	0.303000												
PHIP	55023	broad.mit.edu	37	6	79700597	79700597	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:79700597G>T	uc003pir.2	-	20	2533	c.2307C>A	c.(2305-2307)CCC>CCA	p.P769P	PHIP_uc011dyp.1_Silent_p.P768P	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	769					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)		TTGAGACAGTGGGTATTTTAT	0.303000												
TTK	7272	broad.mit.edu	37	6	80724229	80724229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:80724229G>A	uc003pjc.2	+	10	1108	c.1034G>A	c.(1033-1035)AGT>AAT	p.S345N	TTK_uc003pjb.3_Missense_Mutation_p.S345N	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	345					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATGAAAAGAGTTCTGAACTT	0.308000												
DOPEY1	23033	broad.mit.edu	37	6	83841932	83841932	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:83841932G>T	uc003pjs.1	+	18	2914	c.2654G>T	c.(2653-2655)GGG>GTG	p.G885V	DOPEY1_uc011dyy.1_Missense_Mutation_p.G876V|DOPEY1_uc010kbl.1_Missense_Mutation_p.G876V	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	885					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)		TTGGGAGATGGGACACCTCAG	0.358000												
ME1	4199	broad.mit.edu	37	6	83921763	83921763	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:83921763C>T	uc003pjy.2	-	14	1705	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	ME1_uc011dzb.1_Silent_p.P458P|ME1_uc011dzc.1_Silent_p.P367P	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	533					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)	CTTTGTTTTGCGGTTCAGGAT	0.343000												
SNAP91	9892	broad.mit.edu	37	6	84368775	84368775	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:84368775C>G	uc011dze.1	-	6	806	c.489G>C	c.(487-489)AAG>AAC	p.K163N	SNAP91_uc003pkb.2_Missense_Mutation_p.K128N|SNAP91_uc003pkc.2_Missense_Mutation_p.K163N|SNAP91_uc003pkd.2_Missense_Mutation_p.K163N|SNAP91_uc003pka.2_Missense_Mutation_p.K163N|SNAP91_uc011dzf.1_Missense_Mutation_p.K44N	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	163					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTTAGCAGCTTTTCGGGAG	0.353000												
ZNF292	23036	broad.mit.edu	37	6	87955302	87955302	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:87955302T>C	uc003plm.3	+	7	1001	c.960T>C	c.(958-960)CTT>CTC	p.L320L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCGTCAACTTTCTTTGTTAA	0.289000												
C6orf162	57150	broad.mit.edu	37	6	88049878	88049878	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:88049878C>T	uc003plp.1	+	4	269	c.180C>T	c.(178-180)TGC>TGT	p.C60C	C6orf164_uc003plr.2_Intron|C6orf162_uc003plq.1_Silent_p.C60C	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	60	Helical; (Potential).					integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		TTTCACTTTGCGTGGCATATA	0.358000												
MDN1	23195	broad.mit.edu	37	6	90428705	90428705	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:90428705C>T	uc003pnn.1	-	42	6218	c.6102G>A	c.(6100-6102)CCG>CCA	p.P2034P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2034					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)		GATGGCGGGACGGGTGAGGAA	0.562000												
MANEA	79694	broad.mit.edu	37	6	96034417	96034417	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:96034417T>C	uc003poo.1	+	2	242	c.102T>C	c.(100-102)GCT>GCC	p.A34A	MANEA_uc003pon.2_Silent_p.A34A	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	34	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAAATACAGCTACTTTTGGAG	0.363000												
CCNC	892	broad.mit.edu	37	6	100009286	100009286	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:100009286A>G	uc003pqe.2	-	4	538	c.251T>C	c.(250-252)GTA>GCA	p.V84A	uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.V84A|CCNC_uc011eah.1_5'UTR|CCNC_uc003pqf.2_Missense_Mutation_p.V84A	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	84	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		AGCCATTAATACAGGATCTAT	0.299000												
SIM1	6492	broad.mit.edu	37	6	100896393	100896393	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:100896393G>A	uc003pqj.3	-	6	912	c.705C>T	c.(703-705)CGC>CGT	p.R235R	SIM1_uc010kcu.2_Silent_p.R235R	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	235	PAS 2.				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)		CCAGGCTGGCGCGGAACATAA	0.617000												
HACE1	57531	broad.mit.edu	37	6	105233031	105233031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:105233031G>T	uc003pqu.1	-	12	1515	c.1238C>A	c.(1237-1239)CCT>CAT	p.P413H	HACE1_uc010kcy.1_Translation_Start_Site|HACE1_uc010kcz.1_Missense_Mutation_p.P413H|HACE1_uc010kcx.1_Translation_Start_Site|HACE1_uc003pqt.1_Missense_Mutation_p.P66H	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	413					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATAGCTCCCAGGTCCTGGAGG	0.433000												
SCML4	256380	broad.mit.edu	37	6	108067996	108067996	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:108067996C>T	uc010kdf.2	-	4	635	c.384G>A	c.(382-384)TCG>TCA	p.S128S	SCML4_uc003prz.3_Silent_p.S70S|SCML4_uc011eam.1_Silent_p.S128S|SCML4_uc003psa.3_Silent_p.S99S	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	128					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)		GCAGCACCGCCGATGGCCGCT	0.622000												
FOXO3	2309	broad.mit.edu	37	6	108985055	108985055	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:108985055A>G	uc003psk.2	+	3	1335	c.1019A>G	c.(1018-1020)GAT>GGT	p.D340G	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.D340G|FOXO3_uc011ean.1_Missense_Mutation_p.D120G|FOXO3_uc010kdj.1_Missense_Mutation_p.D120G	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	340					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CAGGACGATGATGCGCCTCTC	0.582000												
AMD1	262	broad.mit.edu	37	6	111213388	111213388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:111213388G>A	uc003puk.1	+	5	774	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMD1_uc011eay.1_Missense_Mutation_p.R82H|AMD1_uc011eaz.1_Missense_Mutation_p.R122H|AMD1_uc011eba.1_Intron|AMD1_uc003pul.1_Missense_Mutation_p.R3H	NM_001634	NP_001625	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	151					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			upper_aerodigestive_tract(1)	1		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TGTATGGGACGTATGAATTCT	0.333000												
FAM162B	221303	broad.mit.edu	37	6	117086374	117086374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:117086374C>T	uc003pxi.2	-	2	364	c.217G>A	c.(217-219)GAC>AAC	p.D73N		NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN	hypothetical protein LOC221303	73						integral to membrane					0						ATTTTCTTGTCGAACTGCGAA	0.617000												
NKAIN2	154215	broad.mit.edu	37	6	124676492	124676492	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:124676492A>G	uc003pzo.2	+	3	549	c.272A>G	c.(271-273)AAG>AGG	p.K91R	NKAIN2_uc003pzn.1_Missense_Mutation_p.K91R|NKAIN2_uc003pzp.2_Missense_Mutation_p.K90R|NKAIN2_uc010keq.2_Missense_Mutation_p.K91R|NKAIN2_uc010ker.2_5'UTR	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	91		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GACCTCTCAAAGGTAATTTAC	0.448000												
C6orf174	387104	broad.mit.edu	37	6	127837736	127837736	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:127837736G>A	uc003qbd.2	-	2	889	c.24C>T	c.(22-24)GGC>GGT	p.G8G		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	8						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CAGGGGCAGCGCCCCCGATTG	0.612000												
C6orf191	253582	broad.mit.edu	37	6	130164743	130164743	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:130164743T>C	uc003qbs.2	-	3	208	c.125A>G	c.(124-126)CAT>CGT	p.H42R		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	42						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		ATTCAACTCATGCACCCTAAA	0.323000												
ALDH8A1	64577	broad.mit.edu	37	6	135239672	135239672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:135239672G>A	uc003qew.2	-	7	1398	c.1345C>T	c.(1345-1347)CTC>TTC	p.L449F	ALDH8A1_uc003qex.2_Missense_Mutation_p.L395F|ALDH8A1_uc010kgh.2_Missense_Mutation_p.L227F|ALDH8A1_uc011ecx.1_Missense_Mutation_p.L399F	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	449					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TCCCTGATGAGCCAGCAGTTG	0.557000												
SLC35D3	340146	broad.mit.edu	37	6	137243721	137243721	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:137243721C>T	uc003qhe.2	+	1	320	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	52	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGCTCCACCGCGGCGCTGAGC	0.682000												
OLIG3	167826	broad.mit.edu	37	6	137815334	137815334	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:137815334G>A	uc003qhp.1	-	1	198	c.-26C>T	c.(-28--24)CACGG>CATGG			NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CGGCCCTACCGTGGGGAGGCT	0.468000												
FBXO30	84085	broad.mit.edu	37	6	146121412	146121412	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:146121412T>C	uc003qla.2	-	3	2267	c.2068A>G	c.(2068-2070)AAT>GAT	p.N690D	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	690							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTCCATTCATTAACAGAACAA	0.373000												
GRM1	2911	broad.mit.edu	37	6	146720412	146720412	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:146720412G>A	uc010khw.1	+	8	2707	c.2237G>A	c.(2236-2238)TGC>TAC	p.C746Y	GRM1_uc010khv.1_Missense_Mutation_p.C746Y|GRM1_uc003qll.2_Missense_Mutation_p.C746Y|GRM1_uc011edz.1_Missense_Mutation_p.C746Y|GRM1_uc011eea.1_Missense_Mutation_p.C746Y	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	746	Extracellular (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)	TACCTTATCTGCAATACCAGC	0.522000												
C6orf97	80129	broad.mit.edu	37	6	151859310	151859310	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:151859310A>G	uc003qol.2	+	3	406	c.317A>G	c.(316-318)CAG>CGG	p.Q106R		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	106	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GACAGAGTTCAGGAACTAGAA	0.403000												
RSPH3	83861	broad.mit.edu	37	6	159403612	159403612	+	Missense_Mutation	SNP	G	G	A	rs142857859		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:159403612G>A	uc003qrx.2	-	5	1217	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W	RSPH3_uc010kju.2_Missense_Mutation_p.R247W|RSPH3_uc003qry.1_Missense_Mutation_p.R343W	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	343	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGACTGGCCCGCAGGTTAGCC	0.448000												
FAM120B	84498	broad.mit.edu	37	6	170627293	170627293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:170627293C>T	uc003qxp.2	+	2	923	c.815C>T	c.(814-816)TCG>TTG	p.S272L	FAM120B_uc003qxo.1_Missense_Mutation_p.S272L|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	272					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GACCATATATCGAAAGTTCTT	0.333000												
UNCX	340260	broad.mit.edu	37	7	1273302	1273302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:1273302C>T	uc011jvw.1	+	2	421	c.421C>T	c.(421-423)CGC>TGC	p.R141C		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	141	Homeobox.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTGGCGCTGCGCCTAGACCT	0.667000												
INTS1	26173	broad.mit.edu	37	7	1535865	1535865	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:1535865G>A	uc003skn.2	-	12	1739	c.1638C>T	c.(1636-1638)GCC>GCT	p.A546A	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	546					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCATGGACACGGCCAGGACGT	0.637000												
NUDT1	4521	broad.mit.edu	37	7	2289590	2289590	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:2289590A>G	uc003slp.1	+	4	422	c.320A>G	c.(319-321)CAT>CGT	p.H107R	NUDT1_uc003slq.1_Missense_Mutation_p.H84R|NUDT1_uc003slr.1_Missense_Mutation_p.H84R|NUDT1_uc003sls.1_Missense_Mutation_p.H107R|NUDT1_uc003slt.1_Missense_Mutation_p.H84R|NUDT1_uc003slu.1_Missense_Mutation_p.H107R|NUDT1_uc003slv.1_Missense_Mutation_p.H84R	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	125	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		ATGGACGTGCATGTCTTCTGC	0.637000								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
CHST12	55501	broad.mit.edu	37	7	2473447	2473447	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:2473447G>A	uc003smc.2	+	2	1308	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q	CHST12_uc003smd.2_Silent_p.Q391Q	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	391	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)		GGAGGCAGCAGCTGTATAAAC	0.607000												
SLC29A4	222962	broad.mit.edu	37	7	5336805	5336805	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:5336805C>T	uc003sod.2	+	7	1019	c.858C>T	c.(856-858)GAC>GAT	p.D286D	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.D286D|SLC29A4_uc003soe.2_Silent_p.D272D|SLC29A4_uc010ksw.2_5'Flank	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	286	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCACCACGACGTTGTCGCCG	0.567000												
FSCN1	6624	broad.mit.edu	37	7	5644943	5644943	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:5644943G>A	uc003sou.2	+	5	1434	c.1320G>A	c.(1318-1320)GCG>GCA	p.A440A	FSCN1_uc003sov.2_Silent_p.A162A|FSCN1_uc003sow.2_3'UTR	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	440				A -> V (in Ref. 8; AAH06304).	actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTGACTCCGCGGTCACCAGCA	0.622000												
AIMP2	7965	broad.mit.edu	37	7	6063222	6063222	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:6063222T>G	uc003spo.2	+	4	976	c.863T>G	c.(862-864)ATC>AGC	p.I288S	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	288	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CTCCAGCAGATCGGAGGCTGC	0.547000												
THSD7A	221981	broad.mit.edu	37	7	11464332	11464332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:11464332C>T	uc003ssf.3	-	15	3626	c.3374G>A	c.(3373-3375)CGA>CAA	p.R1125Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1125	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCACTTTTCGGGTTTGCAC	0.483000										HNSCC(18;0.044)		
TMEM106B	54664	broad.mit.edu	37	7	12263867	12263867	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:12263867G>T	uc011jxk.1	+	5	697	c.297G>T	c.(295-297)ATG>ATT	p.M99I	TMEM106B_uc003ssh.2_Missense_Mutation_p.M99I	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	99	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TGTATGTGATGGCTTCTGTGT	0.388000												
ITGB8	3696	broad.mit.edu	37	7	20449502	20449502	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:20449502A>G	uc003suu.2	+	14	2897	c.2192A>G	c.(2191-2193)AAG>AGG	p.K731R	ITGB8_uc011jyh.1_Missense_Mutation_p.K596R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	731	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						ATTAAGGATAAGTTGATTCTG	0.333000												
DNAH11	8701	broad.mit.edu	37	7	21583118	21583118	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21583118C>T	uc003svc.2	+	1	286	c.255C>T	c.(253-255)GAC>GAT	p.D85D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	85	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AAAGCGAGGACAACCGGCAGG	0.627000									Kartagener_syndrome			
GARS	2617	broad.mit.edu	37	7	30638425	30638425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:30638425G>A	uc003tbm.2	+	2	593	c.236G>A	c.(235-237)CGA>CAA	p.R79Q		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	79	WHEP-TRS.				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	GATCTTGTGCGAAAACTCAAA	0.423000												
ELMO1	9844	broad.mit.edu	37	7	37298811	37298811	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:37298811T>G	uc003tfk.1	-	6	695	c.388A>C	c.(388-390)ACG>CCG	p.T130P	ELMO1_uc011kbc.1_Missense_Mutation_p.T34P|ELMO1_uc010kxg.1_Missense_Mutation_p.T130P	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	130					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						ACCATCTGCGTGAGGAGAGAG	0.517000												
INHBA	3624	broad.mit.edu	37	7	41739849	41739849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:41739849C>T	uc003thq.2	-	1	359	c.124G>A	c.(124-126)GCC>ACC	p.A42T	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A42T|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	42					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TTTGGGAGGGCGGCCAGCGCA	0.572000										TSP Lung(11;0.080)		
GLI3	2737	broad.mit.edu	37	7	42004496	42004496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:42004496C>T	uc011kbh.1	-	15	4266	c.4175G>A	c.(4174-4176)AGC>AAC	p.S1392N	GLI3_uc011kbg.1_Missense_Mutation_p.S1333N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1392					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						CTGGCGCCTGCTGCCCCCAAA	0.622000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
C7orf25	79020	broad.mit.edu	37	7	42949407	42949407	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:42949407C>T	uc003thw.2	-	2	1557	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R	C7orf25_uc010kxq.2_Missense_Mutation_p.G365R|C7orf25_uc003thx.3_Missense_Mutation_p.G423R|C7orf25_uc010kxr.2_Missense_Mutation_p.G423R	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	365										skin(1)	1						AGGGTGTCTCCCGTCCCAAAA	0.438000												
DBNL	28988	broad.mit.edu	37	7	44091460	44091460	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:44091460C>T	uc003tjp.3	+	3	269	c.171C>T	c.(169-171)CTC>CTT	p.L57L	DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.3_Silent_p.L57L|DBNL_uc003tjr.3_Intron|DBNL_uc003tjq.3_Silent_p.L57L|DBNL_uc011kbm.1_Silent_p.L57L|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_Intron|DBNL_uc011kbp.1_Silent_p.L57L|DBNL_uc011kbq.1_Intron|DBNL_uc011kbr.1_Silent_p.L5L|DBNL_uc011kbs.1_5'Flank	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	57	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						TGGAGGAGCTCAACAGCGGGA	0.577000												
NPC1L1	29881	broad.mit.edu	37	7	44579933	44579933	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:44579933A>G	uc003tlb.2	-	2	119	c.63T>C	c.(61-63)AGT>AGC	p.S21S	NPC1L1_uc003tlc.2_Silent_p.S21S|NPC1L1_uc011kbw.1_Silent_p.S21S|NPC1L1_uc003tld.2_Silent_p.S21S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	21					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGTAAGGCTCACTCTGGGCCT	0.597000												
CCM2	83605	broad.mit.edu	37	7	45115439	45115439	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:45115439G>A	uc003tmo.2	+	10	1264	c.1118G>A	c.(1117-1119)GGC>GAC	p.G373D	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.G315D|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.G282D|CCM2_uc003tms.2_Missense_Mutation_p.G394D	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	373					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGACCATTGGCGTGAAGGAT	0.602000									Familial_Cerebral_Cavernous_Angioma			
ADCY1	107	broad.mit.edu	37	7	45743274	45743274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:45743274G>A	uc003tne.3	+	16	2665	c.2647G>A	c.(2647-2649)GAG>AAG	p.E883K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	883	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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTCTACATCGAGCTGGACGG	0.567000												
CRCP	27297	broad.mit.edu	37	7	65610438	65610438	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:65610438A>G	uc003tus.2	+	5	393	c.248A>G	c.(247-249)AAG>AGG	p.K83R	CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Missense_Mutation_p.K76R|CRCP_uc003tut.2_Missense_Mutation_p.K50R|CRCP_uc003tuu.2_Missense_Mutation_p.K6R	NM_014478	NP_055293	O75575	RPC9_HUMAN	calcitonin gene-related peptide-receptor	83					acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding				0						AGAGCTGAGAAGCTCCAGCTG	0.547000												
ELN	2006	broad.mit.edu	37	7	73462849	73462849	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:73462849A>G	uc003tzw.2	+	15	853	c.762A>G	c.(760-762)GCA>GCG	p.A254A	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.A223A|ELN_uc003tzn.2_Silent_p.A254A|ELN_uc003tzz.2_Silent_p.A218A|ELN_uc003tzo.2_Silent_p.A240A|ELN_uc003tzp.2_Silent_p.A210A|ELN_uc003tzq.2_Silent_p.A137A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.A254A|ELN_uc003tzt.2_Silent_p.A259A|ELN_uc003tzu.2_Silent_p.A259A|ELN_uc003tzv.2_Silent_p.A244A|ELN_uc003tzx.2_Silent_p.A244A|ELN_uc011kff.1_Silent_p.A254A|ELN_uc003tzy.2_Silent_p.A249A	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	254	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCCCCCAGgcagcagcagcag	0.517000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
CLIP2	7461	broad.mit.edu	37	7	73790832	73790832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:73790832C>T	uc003uam.2	+	10	2428	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	CLIP2_uc003uan.2_Missense_Mutation_p.R666W|CLIP2_uc003uao.2_Missense_Mutation_p.R95W	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	701	Potential.					microtubule associated complex				skin(3)	3						TGGGCTGCAGCGGCACTGGCG	0.697000												
SPDYE5	442590	broad.mit.edu	37	7	75130956	75130956	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:75130956C>T	uc011kfy.1	+	6	967	c.831C>T	c.(829-831)GGC>GGT	p.G277G		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	277	Arg-rich.										0						TCCAGTTAGGCCGTTCCATGA	0.577000												
PCLO	27445	broad.mit.edu	37	7	82476473	82476473	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:82476473G>C	uc003uhx.2	-	11	14034	c.13745C>G	c.(13744-13746)GCA>GGA	p.A4582G	PCLO_uc003uhv.2_Missense_Mutation_p.A4582G|PCLO_uc003uht.1_Missense_Mutation_p.A33G|PCLO_uc003uhu.1_Missense_Mutation_p.Q15E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4470	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACATATTTCTGCTTCCCCACT	0.358000												
ADAM22	53616	broad.mit.edu	37	7	87564383	87564383	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:87564383G>A	uc003ujn.2	+	2	207	c.128G>A	c.(127-129)CGC>CAC	p.R43H	ADAM22_uc003uji.1_Missense_Mutation_p.R42H|ADAM22_uc003ujj.1_Missense_Mutation_p.R43H|ADAM22_uc003ujk.1_Missense_Mutation_p.R43H|ADAM22_uc003ujl.1_Missense_Mutation_p.R43H|ADAM22_uc003ujm.2_Missense_Mutation_p.R43H|ADAM22_uc003ujo.2_Missense_Mutation_p.R43H|ADAM22_uc003ujp.1_Missense_Mutation_p.R95H	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	43					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)			AAGGAAAACCGCTTCGTGGAG	0.612000												
PEX1	5189	broad.mit.edu	37	7	92146640	92146640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:92146640C>T	uc003uly.2	-	5	1285	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T	PEX1_uc011khr.1_Missense_Mutation_p.A189T|PEX1_uc010ley.2_Missense_Mutation_p.A397T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	397					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTTGATGGCATTGTTCAAT	0.348000												
TAC1	6863	broad.mit.edu	37	7	97362035	97362035	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:97362035C>T	uc003uop.3	+	2	357	c.111C>T	c.(109-111)AGC>AGT	p.S37S	TAC1_uc003uoq.3_Silent_p.S37S|TAC1_uc003uor.3_Silent_p.S37S|TAC1_uc003uos.3_Silent_p.S37S	NM_003182	NP_003173	P20366	TKN1_HUMAN	tachykinin 1 isoform beta precursor	37					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space					0	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GGTACGACAGCGACCAGATCA	0.552000												
ZNF498	221785	broad.mit.edu	37	7	99227411	99227411	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99227411G>A	uc003url.1	+	8	1730	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N	ZNF498_uc003urm.1_Missense_Mutation_p.S304N|ZNF498_uc010lge.1_Missense_Mutation_p.S304N|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.S396N|ZNF498_uc003uro.1_Missense_Mutation_p.S252N	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	468	C2H2-type 5.				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)					AAGAGCTTCAGCAGGAATGCC	0.647000												
MEPCE	56257	broad.mit.edu	37	7	100028980	100028980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100028980G>A	uc003uuw.2	+	1	1452	c.1339G>A	c.(1339-1341)GTC>ATC	p.V447I	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	447	Bin3-type SAM.						methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCCGGGACGTCCTAGATCT	0.582000												
ZAN	7455	broad.mit.edu	37	7	100355909	100355909	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100355909T>C	uc003uwj.2	+	16	3559	c.3394T>C	c.(3394-3396)TGT>CGT	p.C1132R	ZAN_uc003uwk.2_Missense_Mutation_p.C1132R|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1132	VWFC 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)			GATCTCTCAGTGTGGGACACA	0.622000												
MUC17	140453	broad.mit.edu	37	7	100675194	100675194	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100675194C>A	uc003uxp.1	+	3	550	c.497C>A	c.(496-498)ACT>AAT	p.T166N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	166	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTGTCAGCACTGCACCTCTT	0.453000												
MUC17	140453	broad.mit.edu	37	7	100680858	100680858	+	Missense_Mutation	SNP	C	C	T	rs140147544	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100680858C>T	uc003uxp.1	+	3	6214	c.6161C>T	c.(6160-6162)ACG>ATG	p.T2054M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2054	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACTACGCTTGTGGTC	0.493000												
TRIM56	81844	broad.mit.edu	37	7	100731710	100731710	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100731710C>G	uc003uxq.2	+	3	1348	c.1117C>G	c.(1117-1119)CAG>GAG	p.Q373E	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	373					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTGAGGAGCAGCAGCCCCA	0.647000												
C7orf52	375607	broad.mit.edu	37	7	100816741	100816741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:100816741G>A	uc003uxy.1	-	3	612	c.373C>T	c.(373-375)CGC>TGC	p.R125C	C7orf52_uc003uxz.1_Missense_Mutation_p.R125C	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	125	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCGCCACGCGCAGCCCCTCC	0.731000												
LRRC17	10234	broad.mit.edu	37	7	102574474	102574474	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:102574474C>T	uc003vau.2	+	2	503	c.114C>T	c.(112-114)GGC>GGT	p.G38G	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.G38G	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	38					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						CGGGTGGAGGCCGGAGAGGCT	0.537000												
RELN	5649	broad.mit.edu	37	7	103183268	103183268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:103183268C>T	uc003vca.2	-	43	6741	c.6581G>A	c.(6580-6582)TGT>TAT	p.C2194Y	RELN_uc010liz.2_Missense_Mutation_p.C2194Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2194					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGGATTCCACACTTTCGAGA	0.383000												
BCAP29	55973	broad.mit.edu	37	7	107253787	107253787	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107253787G>T	uc003vej.2	+	7	939	c.600G>T	c.(598-600)AAG>AAT	p.K200N	BCAP29_uc011kly.1_Missense_Mutation_p.K106N|BCAP29_uc011klz.1_Missense_Mutation_p.K200N|BCAP29_uc011kma.1_Missense_Mutation_p.K200N	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	200	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						CCCTTTCTAAGGCACAAAATG	0.254000												
PNPLA8	50640	broad.mit.edu	37	7	108112874	108112874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:108112874C>T	uc003vff.1	-	12	2727	c.2320G>A	c.(2320-2322)GAA>AAA	p.E774K	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.E774K|PNPLA8_uc003vfi.1_Missense_Mutation_p.E674K|PNPLA8_uc003vfj.1_Missense_Mutation_p.E774K|PNPLA8_uc003vfk.1_Missense_Mutation_p.E674K	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	774					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						GGAAGTCCTTCATACATATCA	0.269000												
DOCK4	9732	broad.mit.edu	37	7	111368509	111368509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111368509G>A	uc003vfx.2	-	52	5991	c.5722C>T	c.(5722-5724)CGG>TGG	p.R1908W	DOCK4_uc011kml.1_Missense_Mutation_p.R789W|DOCK4_uc011kmm.1_Missense_Mutation_p.R777W|DOCK4_uc003vfw.2_Missense_Mutation_p.R1320W|DOCK4_uc003vfy.2_Missense_Mutation_p.R1953W|DOCK4_uc003vfv.2_Missense_Mutation_p.R221W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CGCAGAGTCCGCTCGTAGACG	0.731000												
DOCK4	9732	broad.mit.edu	37	7	111368582	111368582	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111368582G>A	uc003vfx.2	-	52	5918	c.5649C>T	c.(5647-5649)CCC>CCT	p.P1883P	DOCK4_uc011kml.1_Silent_p.P764P|DOCK4_uc011kmm.1_Silent_p.P752P|DOCK4_uc003vfw.2_Silent_p.P1295P|DOCK4_uc003vfy.2_Silent_p.P1928P|DOCK4_uc003vfv.2_Silent_p.P196P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1883	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AGCTCGGCACGGGCACCGGCA	0.657000												
DOCK4	9732	broad.mit.edu	37	7	111409726	111409726	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111409726T>C	uc003vfx.2	-	36	3929	c.3660A>G	c.(3658-3660)GCA>GCG	p.A1220A	DOCK4_uc011kml.1_Silent_p.A101A|DOCK4_uc011kmm.1_Silent_p.A127A|DOCK4_uc003vfw.2_Silent_p.A670A|DOCK4_uc003vfy.2_Silent_p.A1265A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1220	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGAGGGTATATGCAGCTTCTG	0.502000												
ASZ1	136991	broad.mit.edu	37	7	117067503	117067503	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:117067503G>A	uc003vjb.2	-	1	75	c.12C>T	c.(10-12)AGC>AGT	p.S4S	ASZ1_uc011kno.1_Silent_p.S4S|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	4					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCGCAGCGCGCTCGCCGCCA	0.692000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PTPRZ1	5803	broad.mit.edu	37	7	121650445	121650445	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:121650445A>C	uc003vjy.2	+	12	1740	c.1345A>C	c.(1345-1347)AGT>CGT	p.S449R	PTPRZ1_uc003vjz.2_Missense_Mutation_p.S449R|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	449	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						TGGTAGAGACAGTGCTACAAA	0.408000												
SLC13A1	6561	broad.mit.edu	37	7	122809288	122809288	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122809288T>C	uc003vkm.2	-	4	492	c.467A>G	c.(466-468)CAG>CGG	p.Q156R	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	156						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GATGATCTGCTGCACTACAGC	0.517000												
SLC13A1	6561	broad.mit.edu	37	7	122839969	122839969	+	Missense_Mutation	SNP	C	C	T	rs143242073	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122839969C>T	uc003vkm.2	-	1	57	c.32G>A	c.(31-33)CGC>CAC	p.R11H	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	11						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	GAGAAATCGGCGATAAACCAG	0.428000												
FLNC	2318	broad.mit.edu	37	7	128475415	128475415	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:128475415A>G	uc003vnz.3	+	2	597	c.388A>G	c.(388-390)ATC>GTC	p.I130V	FLNC_uc003voa.3_Missense_Mutation_p.I130V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	130	CH 1.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCTGAAGCTGATCCTGGGCCT	0.622000												
SMO	6608	broad.mit.edu	37	7	128843389	128843389	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:128843389T>C	uc003vor.2	+	2	776	c.496T>C	c.(496-498)TTC>CTC	p.F166L		NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	166	FZ.|Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CTGGCCTGACTTCCTGCGCTG	0.657000			Mis		skin basal cell 							
FAM40B	57464	broad.mit.edu	37	7	129091546	129091546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:129091546C>T	uc011koy.1	+	4	407	c.367C>T	c.(367-369)CGG>TGG	p.R123W	FAM40B_uc003vow.2_Missense_Mutation_p.R123W	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	123											0						CAGTAGGGAACGGCGGCTGAA	0.572000												
KLHDC10	23008	broad.mit.edu	37	7	129764312	129764312	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:129764312T>C	uc003vpj.1	+	6	936	c.801T>C	c.(799-801)CAT>CAC	p.H267H	KLHDC10_uc003vpk.1_Silent_p.H238H|KLHDC10_uc010lmb.1_Silent_p.H164H	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	267	Kelch 3.										0						AAATTGCACATGACGGGCAGA	0.289000												
EXOC4	60412	broad.mit.edu	37	7	133314872	133314872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:133314872G>A	uc003vrk.2	+	10	1527	c.1492G>A	c.(1492-1494)GTC>ATC	p.V498I	EXOC4_uc011kpo.1_Missense_Mutation_p.V397I|EXOC4_uc003vrl.2_Missense_Mutation_p.V108I|EXOC4_uc011kpp.1_Missense_Mutation_p.V30I	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	498					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AAACATTACCGTCATATTCCA	0.368000												
AKR1B10	57016	broad.mit.edu	37	7	134222385	134222385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:134222385C>T	uc003vrr.2	+	7	1033	c.713C>T	c.(712-714)GCT>GTT	p.A238V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	238					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						AAGGAGATTGCTGCAAAGCAC	0.453000												
NUP205	23165	broad.mit.edu	37	7	135269638	135269638	+	Silent	SNP	C	C	T	rs144217755	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:135269638C>T	uc003vsw.2	+	8	1132	c.1101C>T	c.(1099-1101)AAC>AAT	p.N367N	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	367					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						TTGCTGACAACGTTTTCCTGT	0.393000												
PTN	5764	broad.mit.edu	37	7	136938212	136938212	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:136938212G>A	uc003vtq.2	-	3	651	c.288C>T	c.(286-288)GGC>GGT	p.G96G	PTN_uc010lmx.2_Silent_p.G96G|PTN_uc003vtr.1_Silent_p.G96G	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	96					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						GAGGCTTACCGCCAAATTGCT	0.433000												
KIAA1549	57670	broad.mit.edu	37	7	138602550	138602550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:138602550G>A	uc011kql.1	-	2	1871	c.1822C>T	c.(1822-1824)CGT>TGT	p.R608C	KIAA1549_uc003vuk.3_Missense_Mutation_p.R558C|KIAA1549_uc011kqj.1_Missense_Mutation_p.R608C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	608	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAACTGGAACGTTCTTGGTCA	0.488000			O	BRAF	pilocytic astrocytoma							
KLRG2	346689	broad.mit.edu	37	7	139168108	139168108	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:139168108G>T	uc003vvb.2	-	1	350	c.281C>A	c.(280-282)CCG>CAG	p.P94Q	KLRG2_uc010lnc.2_Missense_Mutation_p.P94Q	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	94	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GCCCGGTGACGGCGGCTCGGG	0.746000												
EPHB6	2051	broad.mit.edu	37	7	142561866	142561866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:142561866C>T	uc011kst.1	+	7	1095	c.308C>T	c.(307-309)GCG>GTG	p.A103V	EPHB6_uc011ksu.1_Missense_Mutation_p.A103V|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	103	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GCCCAGAGGGCGCACATTCGA	0.647000												
EPHB6	2051	broad.mit.edu	37	7	142566026	142566026	+	Missense_Mutation	SNP	C	C	T	rs143338098	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:142566026C>T	uc011kst.1	+	14	2733	c.1946C>T	c.(1945-1947)TCC>TTC	p.S649F	EPHB6_uc011ksu.1_Missense_Mutation_p.S649F|EPHB6_uc003wbs.2_Missense_Mutation_p.S357F|EPHB6_uc003wbt.2_Missense_Mutation_p.S123F|EPHB6_uc003wbu.2_Missense_Mutation_p.S357F|EPHB6_uc003wbv.2_Missense_Mutation_p.S33F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	649	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					ATCGACCCCTCCACCTACGAG	0.577000												
OR2F2	135948	broad.mit.edu	37	7	143633262	143633262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:143633262T>C	uc011ktv.1	+	1	937	c.937T>C	c.(937-939)TCC>CCC	p.S313P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					TGGGTTAACATCCAAGCTGGG	0.418000												
LRRC61	65999	broad.mit.edu	37	7	150034532	150034532	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150034532C>T	uc003wgv.2	+	3	1256	c.582C>T	c.(580-582)ACC>ACT	p.T194T	LRRC61_uc003wgx.2_Silent_p.T194T|LRRC61_uc003wgw.2_Silent_p.T194T|LRRC61_uc003wgz.3_Silent_p.T194T	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	194											0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAGAGCCACCGAGGCCCAGC	0.667000												
GIMAP8	155038	broad.mit.edu	37	7	150174600	150174600	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150174600A>T	uc003whj.2	+	5	2060	c.1730A>T	c.(1729-1731)GAC>GTC	p.D577V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	577						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AATTTGGAAGACTTCATGAAG	0.493000												
ASB10	136371	broad.mit.edu	37	7	150883953	150883953	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150883953T>C	uc003wjm.1	-	1	526	c.400A>G	c.(400-402)ACC>GCC	p.T134A	ASB10_uc003wjl.1_Missense_Mutation_p.T134A|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	89					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCGCTGGTATCAAAGACG	0.642000												
ABCF2	10061	broad.mit.edu	37	7	150911168	150911168	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150911168T>G	uc003wjp.2	-	15	1955	c.1844A>C	c.(1843-1845)CAG>CCG	p.Q615P	ABCF2_uc003wjo.1_Missense_Mutation_p.Q615P	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	615						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGGTGAGCTGGGGCTCCTC	0.567000												
GALNT11	63917	broad.mit.edu	37	7	151810418	151810418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:151810418G>A	uc010lqg.1	+	8	1398	c.1168G>A	c.(1168-1170)GAA>AAA	p.E390K	GALNT11_uc011kvm.1_Missense_Mutation_p.E309K|GALNT11_uc003wku.2_Missense_Mutation_p.E390K|GALNT11_uc003wkw.1_Missense_Mutation_p.E138K	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	390	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGATCTCCCGAAGGCCAGGA	0.473000												
SHH	6469	broad.mit.edu	37	7	155604760	155604760	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:155604760G>A	uc003wmk.1	-	1	208	c.57C>T	c.(55-57)TGC>TGT	p.C19C	SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	19					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGTCCCGAGCATACCAGCA	0.617000												
DLGAP2	9228	broad.mit.edu	37	8	1514032	1514032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:1514032G>A	uc003wpl.2	+	3	1271	c.1174G>A	c.(1174-1176)GGA>AGA	p.G392R	DLGAP2_uc003wpm.2_Missense_Mutation_p.G392R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	471					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)		GAAGTCCATCGGACAGAGACC	0.577000												
CSMD1	64478	broad.mit.edu	37	8	2813120	2813120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:2813120C>T	uc011kwk.1	-	64	10378	c.9988G>A	c.(9988-9990)GTG>ATG	p.V3330M	CSMD1_uc011kwj.1_Missense_Mutation_p.V2659M|CSMD1_uc010lrg.2_Missense_Mutation_p.V1221M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3330	Sushi 28.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTACACACAGGCGACTTT	0.488000												
CSMD1	64478	broad.mit.edu	37	8	3141814	3141814	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:3141814C>A	uc011kwk.1	-	26	4398	c.4008G>T	c.(4006-4008)TGG>TGT	p.W1336C	CSMD1_uc011kwj.1_Missense_Mutation_p.W728C|CSMD1_uc003wqe.2_Missense_Mutation_p.W492C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1336	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGCCCGTCCCAGACCTTGA	0.572000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XKR6	286046	broad.mit.edu	37	8	10755763	10755763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:10755763G>A	uc003wtk.1	-	3	1652	c.1625C>T	c.(1624-1626)ACG>ATG	p.T542M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	542						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCTGGTGGGCGTAACCTGGGT	0.637000												
AMAC1L2	83650	broad.mit.edu	37	8	11188646	11188646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:11188646C>T	uc003wtp.1	+	1	152	c.31C>T	c.(31-33)CCT>TCT	p.P11S		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	11						integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		CTTCAACCTGCCTGACTCCAC	0.652000												
DLC1	10395	broad.mit.edu	37	8	12957167	12957167	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:12957167G>T	uc003wwm.2	-	9	3123	c.2679C>A	c.(2677-2679)GAC>GAA	p.D893E	DLC1_uc003wwk.1_Missense_Mutation_p.D456E|DLC1_uc003wwl.1_Missense_Mutation_p.D490E|DLC1_uc011kxx.1_Missense_Mutation_p.D382E	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	893					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GATCCGCCAGGTCCCCTGAAC	0.572000												
ASAH1	427	broad.mit.edu	37	8	17924735	17924735	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:17924735G>T	uc003wyl.2	-	5	688	c.376C>A	c.(376-378)CCT>ACT	p.P126T	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.P126T|ASAH1_uc003wyn.2_Missense_Mutation_p.P142T|ASAH1_uc003wyo.2_Missense_Mutation_p.P120T	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	126					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTACCTAAAGGTATATCAGTA	0.343000												
PSD3	23362	broad.mit.edu	37	8	18662050	18662050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:18662050G>A	uc003wza.2	-	6	1995	c.1892C>T	c.(1891-1893)ACG>ATG	p.T631M	PSD3_uc003wyy.2_Missense_Mutation_p.T97M|PSD3_uc003wyz.2_Translation_Start_Site	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	631	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGATCCAGCGTCATTCCTGT	0.358000												
LPL	4023	broad.mit.edu	37	8	19811840	19811840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:19811840G>A	uc003wzk.3	+	5	1121	c.751G>A	c.(751-753)GTG>ATG	p.V251M		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	251					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGCTATCCGCGTGATTGCAGA	0.428000												
REEP4	80346	broad.mit.edu	37	8	21996234	21996234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:21996234C>T	uc003xau.1	-	7	1079	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	REEP4_uc010ltt.1_Missense_Mutation_p.G164R	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	209						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGCTGGCGCCCGGGGGACTGC	0.662000												
BMP1	649	broad.mit.edu	37	8	22069141	22069141	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:22069141T>G	uc003xbg.2	+	20	3105	c.2861T>G	c.(2860-2862)GTC>GGC	p.V954G	BMP1_uc011kzc.1_Missense_Mutation_p.V703G|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	954	CUB 5.				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)		GGAGATTCTGTCCTGGTGAAG	0.567000												
NEFL	4747	broad.mit.edu	37	8	24813205	24813205	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:24813205G>A	uc003xee.2	-	1	927	c.825C>T	c.(823-825)AAC>AAT	p.N275N		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	275	Rod.|Linker 2.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATTCCTCAGCGTTCTGCATGT	0.642000												
DOCK5	80005	broad.mit.edu	37	8	25267621	25267621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:25267621C>T	uc003xeg.2	+	51	5548	c.5411C>T	c.(5410-5412)CCA>CTA	p.P1804L	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1804	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTAGGCTCCCCATCGTTGCAG	0.557000												
EBF2	64641	broad.mit.edu	37	8	25897577	25897577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:25897577C>T	uc003xes.1	-	5	466	c.449G>A	c.(448-450)TGC>TAC	p.C150Y	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.C150Y	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	150	C5-type (Potential).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGAACTCGGCACATTTCCGG	0.592000												
FZD3	7976	broad.mit.edu	37	8	28378245	28378245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:28378245C>T	uc003xgx.2	+	4	758	c.280C>T	c.(280-282)CGT>TGT	p.R94C	FZD3_uc010lvb.2_Missense_Mutation_p.R94C	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	94	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GGAATATGGACGTGTCACACT	0.483000												
WRN	7486	broad.mit.edu	37	8	30969140	30969140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:30969140G>A	uc003xio.3	+	19	2886	c.2098G>A	c.(2098-2100)GTT>ATT	p.V700I	WRN_uc010lvk.2_Missense_Mutation_p.V167I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	700	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GGTTCCAATCGTTGCACTTAC	0.393000			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
NRG1	3084	broad.mit.edu	37	8	31498154	31498154	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:31498154C>T	uc003xip.2	+	1	887	c.654C>T	c.(652-654)CGC>CGT	p.R218R		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCACCAGCCGCGCGCCGGCCG	0.677000												
NRG1	3084	broad.mit.edu	37	8	31498171	31498171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:31498171G>A	uc003xip.2	+	1	904	c.671G>A	c.(670-672)CGA>CAA	p.R224Q		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGCCTTCCGAGCCTCTTTC	0.682000												
UNC5D	137970	broad.mit.edu	37	8	35542123	35542123	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:35542123A>T	uc003xjr.1	+	6	1103	c.775A>T	c.(775-777)ACA>TCA	p.T259S	UNC5D_uc003xjs.1_Missense_Mutation_p.T254S|UNC5D_uc003xjt.1_Missense_Mutation_p.T28S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	259	TSP type-1 1.|Extracellular (Potential).				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)		GTCTTCCTGGACAGAGTGGTC	0.448000												
AGPAT6	137964	broad.mit.edu	37	8	41469749	41469749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:41469749C>T	uc003xnz.2	+	7	1691	c.752C>T	c.(751-753)CCG>CTG	p.P251L		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	251	HXXXXD motif.				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CATACCTCACCGATCGATGTG	0.458000												
IKBKB	3551	broad.mit.edu	37	8	42178300	42178300	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:42178300C>A	uc003xow.1	+	16	1803	c.1626C>A	c.(1624-1626)ACC>ACA	p.T542T	IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.T319T|IKBKB_uc003xox.1_Silent_p.T263T|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.T540T|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.T483T	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	542					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTCTGCAGACCGACATTGTGG	0.567000												
RP1	6101	broad.mit.edu	37	8	55534032	55534032	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:55534032C>T	uc003xsd.1	+	2	654	c.506C>T	c.(505-507)GCG>GTG	p.A169V	RP1_uc011ldy.1_Missense_Mutation_p.A169V	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	169	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGAGGCGTGCGGTTCTTCTG	0.647000												
RP1	6101	broad.mit.edu	37	8	55539129	55539129	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:55539129C>T	uc003xsd.1	+	4	2835	c.2687C>T	c.(2686-2688)GCT>GTT	p.A896V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	896					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTCTTTAGCTTCTTTGAAA	0.328000												
FAM110B	90362	broad.mit.edu	37	8	59059060	59059060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59059060C>T	uc003xtj.1	+	5	1151	c.271C>T	c.(271-273)CGC>TGC	p.R91C		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	91						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCTGCCAAGCGCGCACTGGG	0.642000												
FAM110B	90362	broad.mit.edu	37	8	59059079	59059079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59059079C>T	uc003xtj.1	+	5	1170	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	97						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCAGCCCCACGCTCAAAGTG	0.647000												
CHD7	55636	broad.mit.edu	37	8	61777851	61777851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:61777851G>A	uc003xue.2	+	38	8830	c.8353G>A	c.(8353-8355)GCC>ACC	p.A2785T		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2785					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)			AGCTGCCACCGCCGGAGGCGA	0.617000												
COPS5	10987	broad.mit.edu	37	8	67971573	67971573	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:67971573T>A	uc003xxe.2	-	2	582	c.251A>T	c.(250-252)AAG>ATG	p.K84M	COPS5_uc003xxd.2_Missense_Mutation_p.K20M|COPS5_uc003xxf.2_Missense_Mutation_p.K129M|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.K84M	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	84	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCATCCACCTTTCCTAGCAT	0.468000												
PREX2	80243	broad.mit.edu	37	8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:68989642G>A	uc003xxv.1	+	15	1607	c.1580G>A	c.(1579-1581)CGC>CAC	p.R527H	PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	527	DEP 2.				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						GGAGATTGCCGCACCAGAGAA	0.438000												
PREX2	80243	broad.mit.edu	37	8	69012063	69012063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:69012063A>G	uc003xxv.1	+	23	2727	c.2700A>G	c.(2698-2700)ATA>ATG	p.I900M	PREX2_uc003xxu.1_Missense_Mutation_p.I900M|PREX2_uc011lez.1_Missense_Mutation_p.I835M	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	900					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						GTCAGAGAATATCCAGTTATA	0.289000												
EYA1	2138	broad.mit.edu	37	8	72211944	72211944	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:72211944T>C	uc003xys.3	-	7	855	c.568A>G	c.(568-570)ACA>GCA	p.T190A	EYA1_uc003xyr.3_Missense_Mutation_p.T185A|EYA1_uc003xyt.3_Missense_Mutation_p.T157A|EYA1_uc010lzf.2_Missense_Mutation_p.T117A|EYA1_uc003xyu.2_Missense_Mutation_p.T190A|EYA1_uc011lfe.1_Missense_Mutation_p.T184A|EYA1_uc003xyv.2_Missense_Mutation_p.T68A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	190					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)			GATGATGTTGTAAAACTGCTA	0.328000												
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77776234C>T	uc003yav.2	+	11	10536	c.10149C>T	c.(10147-10149)TTC>TTT	p.F3383F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3379						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)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)		
ZFHX4	79776	broad.mit.edu	37	8	77776768	77776768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77776768C>A	uc003yav.2	+	11	11070	c.10683C>A	c.(10681-10683)TTC>TTA	p.F3561L		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3557						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)			ATGGTAATTTCAATAGCATCC	0.363000										HNSCC(33;0.089)		
CHMP4C	92421	broad.mit.edu	37	8	82670501	82670501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:82670501T>C	uc003ycl.2	+	4	782	c.608T>C	c.(607-609)ATG>ACG	p.M203T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	203	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						AAACCAGGCATGTCGTCCACT	0.463000												
SLC7A13	157724	broad.mit.edu	37	8	87242090	87242090	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87242090C>A	uc003ydq.1	-	1	515	c.417G>T	c.(415-417)TTG>TTT	p.L139F	SLC7A13_uc003ydr.1_Missense_Mutation_p.L139F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	139	Helical; Name=4; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						ACAACATGGCCAATGCCAGAC	0.488000												
RUNX1T1	862	broad.mit.edu	37	8	93003866	93003866	+	Splice_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:93003866C>T	uc003yfd.2	-	6	1075	c.991_splice	c.e6+1	p.G331_splice	RUNX1T1_uc003yfc.1_Splice_Site_p.G304_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.G294_splice|RUNX1T1_uc010mao.2_Splice_Site_p.G304_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.G342_splice|RUNX1T1_uc010man.1_Intron|RUNX1T1_uc003yfb.1_Splice_Site_p.G294_splice	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1						generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCAGTCTTACCCATAGGTCT	0.488000												
GEM	2669	broad.mit.edu	37	8	95272705	95272705	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:95272705G>T	uc003ygj.2	-	2	276	c.27C>A	c.(25-27)CGC>CGA	p.R9R	GEM_uc003ygi.2_Silent_p.R9R	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	9					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CAGTGCCCTGGCGCATGGTGA	0.562000												
C8orf38	137682	broad.mit.edu	37	8	96044275	96044275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:96044275C>T	uc003yhj.2	+	2	266	c.250C>T	c.(250-252)CGA>TGA	p.R84*	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_5'UTR|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Nonsense_Mutation_p.R32*|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_5'UTR	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	84					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					TGCAGAATCCCGAAGCTCTGT	0.413000												
GDF6	392255	broad.mit.edu	37	8	97157603	97157603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:97157603C>T	uc003yhp.2	-	2	656	c.556G>A	c.(556-558)GTG>ATG	p.V186M		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	186					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					AAGAGCTGCACGTGGAGCGGC	0.711000												
TSPYL5	85453	broad.mit.edu	37	8	98289483	98289483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:98289483G>A	uc003yhy.2	-	1	694	c.590C>T	c.(589-591)GCG>GTG	p.A197V		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	197					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GCCTTCCGTCGCTGGGGGCCC	0.617000												
MTDH	92140	broad.mit.edu	37	8	98657012	98657012	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:98657012C>T	uc003yhz.2	+	1	606	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	93	Interaction with BCCIP.|Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGGAggcggcggccgtgccg	0.557000												
EXT1	2131	broad.mit.edu	37	8	118834730	118834730	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:118834730T>A	uc003yok.1	-	5	2164	c.1391A>T	c.(1390-1392)GAT>GTT	p.D464V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	464	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral 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|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTAAGGAAAATCTCCCAGATA	0.383000			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
TRMT12	55039	broad.mit.edu	37	8	125463342	125463342	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125463342G>A	uc003yra.3	+	1	295	c.174G>A	c.(172-174)GCG>GCA	p.A58A		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	58					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTCGGTGGCGCTACCGGTGC	0.577000												
ADCY8	114	broad.mit.edu	37	8	132051844	132051844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:132051844C>T	uc003ytd.3	-	1	992	c.736G>A	c.(736-738)GGC>AGC	p.G246S	ADCY8_uc010mds.2_Missense_Mutation_p.G246S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	246					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)			GTGACCACGCCGCTGTACTGC	0.637000										HNSCC(32;0.087)		
FAM135B	51059	broad.mit.edu	37	8	139153485	139153485	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:139153485G>T	uc003yuy.2	-	17	3917	c.3746C>A	c.(3745-3747)CCT>CAT	p.P1249H	FAM135B_uc003yux.2_Missense_Mutation_p.P1150H|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1249										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)			TCCCAGGTGAGGCCCAGAGAG	0.537000										HNSCC(54;0.14)		
TRAPPC9	83696	broad.mit.edu	37	8	141461467	141461467	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:141461467G>A	uc003yvj.2	-	2	140	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRAPPC9_uc003yvh.2_Silent_p.S100S|TRAPPC9_uc003yvi.1_Silent_p.S2S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	2					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						AGTCAGGGACGCTCATTTTGA	0.547000												
TSNARE1	203062	broad.mit.edu	37	8	143427223	143427223	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143427223A>G	uc003ywk.2	-	3	237	c.119T>C	c.(118-120)ATC>ACC	p.I40T	TSNARE1_uc011lju.1_Missense_Mutation_p.I40T|TSNARE1_uc003ywj.2_Missense_Mutation_p.I40T|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	40					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)					GAAATGGCGGATTCCATACTC	0.617000												
LYNX1	66004	broad.mit.edu	37	8	143856744	143856744	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143856744G>A	uc003yxc.1	-	4	462	c.192C>T	c.(190-192)TGC>TGT	p.C64C	LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Silent_p.C64C|LYNX1_uc003yxe.1_Silent_p.C64C	NM_177476	NP_803429	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform c	64	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCGGGGCACGCAGGACTTAC	0.647000												
CYP11B1	1584	broad.mit.edu	37	8	143958275	143958275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143958275G>A	uc003yxi.2	-	4	629	c.622C>T	c.(622-624)CGG>TGG	p.R208W	CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R208W|CYP11B1_uc010mey.2_Missense_Mutation_p.R279W	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	208					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCCAGCCGCTCTCCAAAA	0.622000									Familial_Hyperaldosteronism_type_I			
NAPRT1	93100	broad.mit.edu	37	8	144658934	144658934	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144658934C>T	uc003yym.3	-	6	788	c.763G>A	c.(763-765)GCC>ACC	p.A255T	NAPRT1_uc003yyn.3_Missense_Mutation_p.A255T|NAPRT1_uc011lkh.1_Missense_Mutation_p.A255T|NAPRT1_uc003yyo.3_Missense_Mutation_p.A255T	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	255					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGTGGGCACACACCTGC	0.677000												
SCRIB	23513	broad.mit.edu	37	8	144874959	144874959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144874959G>A	uc003yzp.1	-	30	4103	c.4096C>T	c.(4096-4098)CGC>TGC	p.R1366C	SCRIB_uc003yzn.1_Missense_Mutation_p.R75C|SCRIB_uc003yzo.1_Missense_Mutation_p.R1366C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1366					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	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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)			TGGGGCACGCGCACCTCCAGC	0.701000												
SCRIB	23513	broad.mit.edu	37	8	144887175	144887175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144887175C>T	uc003yzp.1	-	20	2687	c.2680G>A	c.(2680-2682)GTC>ATC	p.V894I	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.V894I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	894	PDZ 2.|Interaction with ARHGEF7.				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	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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)			ATGCGGGAGACGAAGATGCCC	0.662000												
SCRIB	23513	broad.mit.edu	37	8	144892860	144892860	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144892860T>A	uc003yzp.1	-	12	1407	c.1400A>T	c.(1399-1401)AAG>ATG	p.K467M	SCRIB_uc003yzo.1_Missense_Mutation_p.K467M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	467	Potential.|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	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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)			TCATACCCGCTTCTCAGCTGC	0.652000												
PLEC	5339	broad.mit.edu	37	8	144996946	144996946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:144996946C>T	uc003zaf.1	-	31	7732	c.7562G>A	c.(7561-7563)CGC>CAC	p.R2521H	PLEC_uc003zab.1_Missense_Mutation_p.R2384H|PLEC_uc003zac.1_Missense_Mutation_p.R2388H|PLEC_uc003zad.2_Missense_Mutation_p.R2384H|PLEC_uc003zae.1_Missense_Mutation_p.R2352H|PLEC_uc003zag.1_Missense_Mutation_p.R2362H|PLEC_uc003zah.2_Missense_Mutation_p.R2370H|PLEC_uc003zaj.2_Missense_Mutation_p.R2411H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2521	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CAGCTTGAGGCGCTCAGCCTC	0.701000												
PARP10	84875	broad.mit.edu	37	8	145058891	145058891	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145058891C>T	uc003zal.3	-	5	1387	c.1279G>A	c.(1279-1281)GCA>ACA	p.A427T	PARP10_uc003zak.3_Missense_Mutation_p.A133T|PARP10_uc011lku.1_Missense_Mutation_p.A439T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.A427T|PARP10_uc010mfn.1_Missense_Mutation_p.A342T|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	427						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGCCCTGCCTTCTCCAGA	0.627000												
OPLAH	26873	broad.mit.edu	37	8	145112163	145112163	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145112163G>T	uc003zar.3	-	11	1565	c.1483C>A	c.(1483-1485)CAT>AAT	p.H495N	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	495							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)	GCACATGCATGCTGCCCACCA	0.657000												
DGAT1	8694	broad.mit.edu	37	8	145540281	145540281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145540281G>A	uc003zbv.3	-	17	1671	c.1403C>T	c.(1402-1404)GCC>GTC	p.A468V	DGAT1_uc010mfv.2_Silent_p.S302S	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	468	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase 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;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CATGAGGACGGCTATTGGCTG	0.602000												
ARHGAP39	80728	broad.mit.edu	37	8	145806354	145806354	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145806354C>T	uc003zdt.1	-	4	943	c.388G>A	c.(388-390)GTC>ATC	p.V130I	ARHGAP39_uc011llk.1_Missense_Mutation_p.V130I|ARHGAP39_uc003zds.1_Missense_Mutation_p.V130I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	130					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						TCACGGCTGACGCTGCTGCCG	0.726000												
KANK1	23189	broad.mit.edu	37	9	744580	744580	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:744580C>A	uc003zgl.1	+	15	4636	c.3987C>A	c.(3985-3987)GCC>GCA	p.A1329A	KANK1_uc003zgn.1_Silent_p.A1329A|KANK1_uc003zgs.1_Silent_p.A1171A|KANK1_uc010mgx.1_Silent_p.A307A|KANK1_uc010mgy.1_Silent_p.A241A|KANK1_uc003zgt.1_Silent_p.A241A	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1329	ANK 5.				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)		TTGCAAAAGCCCAGTCTCCGG	0.502000												
SLC1A1	6505	broad.mit.edu	37	9	4585465	4585465	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:4585465C>T	uc003zij.1	+	12	1718	c.1482C>T	c.(1480-1482)AAC>AAT	p.N494N	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	494					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCCTTGACAACGAAGACTCAG	0.468000												
KIAA1797	54914	broad.mit.edu	37	9	20988333	20988333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:20988333G>A	uc003zog.1	+	43	5272	c.4909G>A	c.(4909-4911)GTT>ATT	p.V1637I	KIAA1797_uc003zoh.1_Missense_Mutation_p.V1073I	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1637						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)		CATTTCAGGCGTTTTGAAGAG	0.378000												
UBAP1	51271	broad.mit.edu	37	9	34242049	34242049	+	Silent	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34242049C>A	uc003ztx.2	+	4	1261	c.1026C>A	c.(1024-1026)TCC>TCA	p.S342S	UBAP1_uc010mka.1_Silent_p.S378S|UBAP1_uc003zty.2_Silent_p.S342S|UBAP1_uc011loi.1_Silent_p.S378S|UBAP1_uc011loj.1_Silent_p.S406S|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Silent_p.S342S	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	342						cytoplasm					0			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGATGCCTTCCCTCTCTGTTT	0.512000												
ENHO	375704	broad.mit.edu	37	9	34521676	34521676	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34521676G>T	uc003zun.1	-	2	442	c.18C>A	c.(16-18)TCC>TCA	p.S6S	ENHO_uc003zuo.2_RNA	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	6						extracellular region					0						GGGCCCCCTGGGAGATGGCTG	0.642000												
RUSC2	9853	broad.mit.edu	37	9	35560416	35560416	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35560416C>T	uc003zww.2	+	10	4034	c.3779C>T	c.(3778-3780)GCC>GTC	p.A1260V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A1260V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1260						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGGGCGTGCCAGGTGGGCC	0.488000												
PAX5	5079	broad.mit.edu	37	9	36846850	36846850	+	Silent	SNP	C	C	T	rs143965433		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:36846850C>T	uc003zzo.1	-	9	1537	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	PAX5_uc011lpt.1_Silent_p.P159P|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Silent_p.P263P|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.P320P|PAX5_uc011lqa.1_Silent_p.P255P|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Silent_p.P329P|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.R286Q	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	363					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAAGCAGCCCCGGGTTGGGGA	0.627000			T|Mis|D|F|S	IGH@|ETV6|PML|FOXP1|ZNF521|ELN	NHL|ALL|B-ALL							
FBXO10	26267	broad.mit.edu	37	9	37516069	37516069	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:37516069C>T	uc004aab.2	-	10	2577	c.2528G>A	c.(2527-2529)CGG>CAG	p.R843Q	FBXO10_uc004aac.2_Missense_Mutation_p.R859Q|FBXO10_uc004aad.2_Missense_Mutation_p.R393Q	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	843	PbH1 17.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CGAGTGGATCCGGTTCTTTAT	0.408000												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478000												
APBA1	320	broad.mit.edu	37	9	72131694	72131694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:72131694C>T	uc004ahh.2	-	2	709	c.433G>A	c.(433-435)GCG>ACG	p.A145T		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	145					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TTGGGCAGCGCGCGGCGGTGC	0.687000												
ALDH1A1	216	broad.mit.edu	37	9	75526891	75526891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:75526891G>A	uc004ajd.2	-	10	1236	c.1183C>T	c.(1183-1185)CGC>TGC	p.R395C	ALDH1A1_uc011lsh.1_Missense_Mutation_p.R316C|ALDH1A1_uc011lsg.1_Missense_Mutation_p.R221C	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	395					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGGCAATGCGCATCTCATCT	0.438000												
FOXB2	442425	broad.mit.edu	37	9	79635623	79635623	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:79635623G>A	uc004ako.1	+	1	1053	c.1053G>A	c.(1051-1053)CTG>CTA	p.L351L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	351					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TCAAGTCCCTGTGCCACTCGG	0.592000												
VPS13A	23230	broad.mit.edu	37	9	79836274	79836274	+	Splice_Site	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:79836274T>C	uc004akr.2	+	13	1421	c.1161_splice	c.e13+2	p.E387_splice	VPS13A_uc004akp.3_Splice_Site_p.E387_splice|VPS13A_uc004akq.3_Splice_Site_p.E387_splice|VPS13A_uc004aks.2_Splice_Site_p.E387_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						TCTTTGGAGGTTAGCATTTAA	0.328000												
DAPK1	1612	broad.mit.edu	37	9	90313686	90313686	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:90313686G>A	uc004apc.2	+	23	2865	c.2727G>A	c.(2725-2727)TCG>TCA	p.S909S	DAPK1_uc004apd.2_Silent_p.S909S|DAPK1_uc011ltg.1_Silent_p.S843S|DAPK1_uc011lth.1_Silent_p.S646S	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	909					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AAGACACATCGTTGCTGAAAG	0.527000									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
S1PR3	1903	broad.mit.edu	37	9	91617139	91617139	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:91617139A>G	uc004aqe.2	+	2	1420	c.1024A>G	c.(1024-1026)AGC>GGC	p.S342G		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	342	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						ATCAAGCAGCAGCAACAATAG	0.592000												
SHC3	53358	broad.mit.edu	37	9	91661763	91661763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:91661763G>A	uc004aqg.2	-	8	1416	c.1109C>T	c.(1108-1110)GCC>GTC	p.A370V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	370	CH1.				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						ACTTACCTGGGCTGTGTCAGG	0.428000												
SEMA4D	10507	broad.mit.edu	37	9	92017805	92017805	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:92017805A>G	uc004aqo.1	-	6	805	c.233T>C	c.(232-234)ATC>ACC	p.I78T	SEMA4D_uc011ltm.1_Missense_Mutation_p.I78T|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.I76T	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	78	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CTTCTCGGAGATGTTGAGTGC	0.607000												
SYK	6850	broad.mit.edu	37	9	93624564	93624564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:93624564G>A	uc004aqz.2	+	4	860	c.655G>A	c.(655-657)GAC>AAC	p.D219N	SYK_uc004aqy.2_Missense_Mutation_p.D219N|SYK_uc004ara.2_Missense_Mutation_p.D219N|SYK_uc004arb.2_Missense_Mutation_p.D219N|SYK_uc004arc.2_Missense_Mutation_p.D219N|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	219	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CTATCGCATCGACAAAGACAA	0.572000			T	ETV6|ITK	MDS|peripheral T-cell lymphoma							
TEX10	54881	broad.mit.edu	37	9	103090222	103090222	+	Missense_Mutation	SNP	G	G	T	rs147616848		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:103090222G>T	uc004bas.2	-	8	1863	c.1648C>A	c.(1648-1650)CGT>AGT	p.R550S	TEX10_uc011lvf.1_Missense_Mutation_p.R389S|TEX10_uc011lvg.1_Missense_Mutation_p.R553S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	550						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)		GCCAGCCAACGGGATAACACT	0.373000												
ABCA1	19	broad.mit.edu	37	9	107546689	107546689	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:107546689T>C	uc004bcl.2	-	50	7006	c.6693A>G	c.(6691-6693)AAA>AAG	p.K2231K	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2231					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGAGAGGTCTTTTAAGTGGT	0.373000												
SVEP1	79987	broad.mit.edu	37	9	113243565	113243565	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:113243565G>A	uc010mtz.2	-	12	2659	c.2322C>T	c.(2320-2322)GGC>GGT	p.G774G	SVEP1_uc010mua.1_Silent_p.G774G|SVEP1_uc004beu.2_Silent_p.G774G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	774	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GTTTCCAGACGCCATCTTCAT	0.383000												
SVEP1	79987	broad.mit.edu	37	9	113341676	113341676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:113341676G>A	uc010mtz.2	-	1	485	c.148C>T	c.(148-150)CCC>TCC	p.P50S	SVEP1_uc010mua.1_Missense_Mutation_p.P50S|SVEP1_uc004beu.2_Missense_Mutation_p.P50S|uc004bew.1_RNA	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	50					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCAGGAGCGGGCGGCGCGGGG	0.741000												
OR2K2	26248	broad.mit.edu	37	9	114090466	114090466	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:114090466A>G	uc011lwp.1	-	1	248	c.248T>C	c.(247-249)GTG>GCG	p.V83A		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	112	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGCAAGTTCACCAGCAAAGT	0.458000												
KIAA1958	158405	broad.mit.edu	37	9	115421607	115421607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115421607G>A	uc004bgf.1	+	4	1584	c.1409G>A	c.(1408-1410)GGC>GAC	p.G470D	KIAA1958_uc011lwx.1_Missense_Mutation_p.G498D	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	470										skin(1)	1						AAGAGCGACGGCTCGGACTTC	0.542000												
KIAA1958	158405	broad.mit.edu	37	9	115421907	115421907	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115421907G>T	uc004bgf.1	+	4	1884	c.1709G>T	c.(1708-1710)CGG>CTG	p.R570L	KIAA1958_uc011lwx.1_Missense_Mutation_p.R598L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	570										skin(1)	1						CTGAACATGCGGACGCTGCAG	0.582000												
SLC46A2	57864	broad.mit.edu	37	9	115652493	115652493	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:115652493T>C	uc004bgk.2	-	1	701	c.469A>G	c.(469-471)ATG>GTG	p.M157V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	157	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						CCCAGCGCCATGACCCCGGAC	0.687000												
COL27A1	85301	broad.mit.edu	37	9	117050984	117050984	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117050984C>T	uc011lxl.1	+	43	4047	c.4047C>T	c.(4045-4047)GGC>GGT	p.G1349G	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1349	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCATTCAGGGCCCTGTGGGTG	0.622000												
COL27A1	85301	broad.mit.edu	37	9	117071541	117071541	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117071541T>C	uc011lxl.1	+	60	5219	c.5219T>C	c.(5218-5220)GTC>GCC	p.V1740A	COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Missense_Mutation_p.V55A	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1740	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTATAGGTCGAGTTTGCC	0.602000												
DFNB31	25861	broad.mit.edu	37	9	117266881	117266881	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:117266881C>T	uc004biz.3	-	1	850	c.201G>A	c.(199-201)GCG>GCA	p.A67A	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.A67A|DFNB31_uc004bjb.2_Silent_p.A67A	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	67					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CGTTGCGGCGCGCGTGGTAAG	0.677000												
MEGF9	1955	broad.mit.edu	37	9	123367553	123367553	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:123367553G>A	uc004bkj.1	-	8	1835	c.1835C>T	c.(1834-1836)TCG>TTG	p.S612L	MEGF9_uc011lyb.1_Missense_Mutation_p.S567L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	575	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0						CAACAATCCCGAAACATCTGC	0.478000												
PTGS1	5742	broad.mit.edu	37	9	125145862	125145862	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:125145862G>A	uc004bmg.1	+	8	972	c.837G>A	c.(835-837)CCG>CCA	p.P279P	PTGS1_uc011lys.1_Silent_p.P254P|PTGS1_uc010mwb.1_Silent_p.P170P|PTGS1_uc004bmf.1_Silent_p.P279P|PTGS1_uc004bmh.1_Silent_p.P170P|PTGS1_uc011lyt.1_Silent_p.P170P	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	279					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)	GAGGCATCCCGCCCCAGAGCC	0.627000												
LHX2	9355	broad.mit.edu	37	9	126783458	126783458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:126783458C>T	uc004boe.1	+	4	1547	c.808C>T	c.(808-810)CGC>TGC	p.R270C	LHX2_uc010mwi.1_Missense_Mutation_p.R278C	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	270	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGCGCATGCGCACGTCCTT	0.572000												
GAPVD1	26130	broad.mit.edu	37	9	128088865	128088865	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:128088865G>A	uc010mwx.2	+	12	2355	c.2029G>A	c.(2029-2031)GCA>ACA	p.A677T	GAPVD1_uc011lzs.1_Missense_Mutation_p.A677T|GAPVD1_uc004bpp.2_Missense_Mutation_p.A677T|GAPVD1_uc004bpq.2_Missense_Mutation_p.A677T|GAPVD1_uc004bpr.2_Missense_Mutation_p.A656T|GAPVD1_uc004bps.2_Missense_Mutation_p.A677T|GAPVD1_uc010mwy.1_Missense_Mutation_p.A536T	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	677					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			ovary(2)|central_nervous_system(1)|skin(1)	4						GCAAGAAATTGCAGGTAACTG	0.428000												
FAM129B	64855	broad.mit.edu	37	9	130289474	130289474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:130289474G>A	uc004brh.2	-	3	516	c.314C>T	c.(313-315)GCG>GTG	p.A105V	FAM129B_uc004bri.2_Missense_Mutation_p.A92V|FAM129B_uc004brj.3_Missense_Mutation_p.A105V	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	105	PH.						protein binding				0						AGGCCTCACCGCTTTGTTTTC	0.632000												
DOLPP1	57171	broad.mit.edu	37	9	131851261	131851261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:131851261G>A	uc004bxc.2	+	8	720	c.692G>A	c.(691-693)CGC>CAC	p.R231H	DOLPP1_uc004bxd.2_Missense_Mutation_p.R188H|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_Missense_Mutation_p.R110H	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	231					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						AACAGACAACGCAAGCTGGGG	0.577000												
ABL1	25	broad.mit.edu	37	9	133760422	133760422	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:133760422G>A	uc004bzw.2	+	11	2748	c.2745G>A	c.(2743-2745)TCG>TCA	p.S915S	ABL1_uc004bzv.2_Silent_p.S934S	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	915	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAAGCCCTCGCAGAGCCCGA	0.652000			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
BAT2L1	84726	broad.mit.edu	37	9	134354775	134354775	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:134354775G>A	uc004can.3	+	18	4950	c.4895G>A	c.(4894-4896)AGC>AAC	p.S1632N	BAT2L1_uc004cao.3_Missense_Mutation_p.S990N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1632							protein binding				0						GAGAGCAGCAGCCAGGGTGAG	0.562000												
DBH	1621	broad.mit.edu	37	9	136517397	136517397	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:136517397G>A	uc004cel.2	+	8	1374	c.1365G>A	c.(1363-1365)TCG>TCA	p.S455S		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	455	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGGTCGTGTCGGTCCATCCGG	0.617000												
KIAA0649	9858	broad.mit.edu	37	9	138376419	138376419	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:138376419G>A	uc004cfr.1	+	4	612	c.63G>A	c.(61-63)CCG>CCA	p.P21P		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	21						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CCTTTGGCCCGCCAGGGAGCT	0.632000												
KCNT1	57582	broad.mit.edu	37	9	138670667	138670667	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:138670667C>T	uc011mdq.1	+	23	2802	c.2728C>T	c.(2728-2730)CGG>TGG	p.R910W	KCNT1_uc011mdr.1_Missense_Mutation_p.R737W|KCNT1_uc010nbf.2_Missense_Mutation_p.R865W|KCNT1_uc004cgo.1_Missense_Mutation_p.R659W	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	910						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)		GACCATGTTCCGGTGCGTCCA	0.667000												
LHX3	8022	broad.mit.edu	37	9	139091567	139091567	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:139091567G>A	uc004cha.2	-	3	508	c.411C>T	c.(409-411)AGC>AGT	p.S137S	LHX3_uc004cgz.2_Silent_p.S142S	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	137	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAGCCGGCTGTCCTCCA	0.637000												
NOTCH1	4851	broad.mit.edu	37	9	139391271	139391271	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:139391271T>C	uc004chz.2	-	34	6920	c.6920A>G	c.(6919-6921)CAA>CGA	p.Q2307R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2307	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)		CCACTCGCATTGACCATTCAA	0.662000			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf167	54863	broad.mit.edu	37	9	140174064	140174064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140174064C>T	uc004cmn.2	+	2	1040	c.923C>T	c.(922-924)ACG>ATG	p.T308M	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	308					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)		GCCGAGGTCACGCGCTTCGTG	0.721000												
ZBED1	9189	broad.mit.edu	37	X	2408343	2408343	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:2408343G>T	uc004cqg.2	-	2	619	c.418C>A	c.(418-420)CCA>ACA	p.P140T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.P140T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	140						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGAGGCTGGGTACAGCCCC	0.662000												
ARSE	415	broad.mit.edu	37	X	2867493	2867493	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:2867493G>T	uc004crc.3	-	6	956	c.706C>A	c.(706-708)CTC>ATC	p.L236I	ARSE_uc011mhi.1_Missense_Mutation_p.L182I|ARSE_uc011mhh.1_Missense_Mutation_p.L261I	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	236					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)				GCGAGGAGGAGGACGGCCGAA	0.567000												
NLGN4X	57502	broad.mit.edu	37	X	5947435	5947435	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:5947435A>G	uc010ndh.2	-	3	1012	c.511T>C	c.(511-513)TAT>CAT	p.Y171H	NLGN4X_uc004crp.2_Missense_Mutation_p.Y191H|NLGN4X_uc004crq.2_Missense_Mutation_p.Y171H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Y171H|NLGN4X_uc004crr.2_Missense_Mutation_p.Y171H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Y171H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	171	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCATGGATATAGACCATGACG	0.438000												
KAL1	3730	broad.mit.edu	37	X	8538695	8538695	+	Missense_Mutation	SNP	C	C	T	rs144634904	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:8538695C>T	uc004csf.2	-	7	1057	c.907G>A	c.(907-909)GTC>ATC	p.V303I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	303	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TCACTGTTGACGGTGGAGTTG	0.522000												
KAL1	3730	broad.mit.edu	37	X	8555939	8555939	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:8555939A>T	uc004csf.2	-	5	772	c.622T>A	c.(622-624)TTC>ATC	p.F208I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	208	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GAAATATTGAATTTCGAGGAC	0.463000												
GEMIN8	54960	broad.mit.edu	37	X	14038456	14038456	+	Silent	SNP	C	C	T	rs145346660		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:14038456C>T	uc004cwb.2	-	4	556	c.213G>A	c.(211-213)GCG>GCA	p.A71A	GEMIN8_uc004cwc.2_Silent_p.A71A|GEMIN8_uc004cwd.2_Silent_p.A71A	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	71					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						ACTGAGGATACGCAGCCTCAT	0.493000												
TXLNG	55787	broad.mit.edu	37	X	16838317	16838317	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16838317T>G	uc004cxq.1	+	3	488	c.437T>G	c.(436-438)CTA>CGA	p.L146R	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	146					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						ATGCAAGCCCTAAACACCCTT	0.373000												
TXLNG	55787	broad.mit.edu	37	X	16847735	16847735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16847735C>T	uc004cxq.1	+	5	757	c.706C>T	c.(706-708)CGA>TGA	p.R236*	TXLNG_uc010ney.1_Nonsense_Mutation_p.R104*	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	236	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						GGAAGAAGAACGACGTAAAGA	0.408000												
TXLNG	55787	broad.mit.edu	37	X	16850813	16850813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:16850813C>T	uc004cxq.1	+	6	983	c.932C>T	c.(931-933)ACG>ATG	p.T311M	TXLNG_uc010ney.1_Missense_Mutation_p.T179M|TXLNG_uc004cxr.1_5'Flank	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	311	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						CTGCAGCAAACGACACAACTG	0.388000												
REPS2	9185	broad.mit.edu	37	X	17092244	17092244	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:17092244C>T	uc004cxv.1	+	12	1512	c.1341C>T	c.(1339-1341)CCC>CCT	p.P447P	REPS2_uc004cxw.1_Silent_p.P446P|REPS2_uc011miw.1_Intron	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	447					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CAGCAACTCCCAAGGATTCCA	0.418000												
SMS	6611	broad.mit.edu	37	X	21995317	21995317	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:21995317G>T	uc004dag.2	+	5	569	c.468G>T	c.(466-468)AAG>AAT	p.K156N	SMS_uc011mjq.1_Missense_Mutation_p.K60N|SMS_uc004daf.1_Missense_Mutation_p.K103N|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	156					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	TACACTCGAAGCAGTTTGGAA	0.428000												
MAGEB18	286514	broad.mit.edu	37	X	26157454	26157454	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:26157454T>G	uc004dbq.1	+	2	539	c.352T>G	c.(352-354)TTG>GTG	p.L118V		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	118	MAGE.						protein binding			central_nervous_system(1)	1						GGTGCATTTCTTGCTTCAGAA	0.418000												
DCAF8L1	139425	broad.mit.edu	37	X	27999324	27999324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:27999324G>A	uc004dbx.1	-	1	243	c.128C>T	c.(127-129)GCC>GTC	p.A43V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	43										ovary(3)|skin(1)	4						TGGCTCTGTGGCTGCCATTTC	0.532000												
DMD	1756	broad.mit.edu	37	X	32305784	32305784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:32305784C>T	uc004dda.1	-	43	6396	c.6152G>A	c.(6151-6153)CGG>CAG	p.R2051Q	DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2051	Spectrin 14.				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)				AATGTCAATCCGACCTGAGCT	0.348000												
FAM47B	170062	broad.mit.edu	37	X	34961045	34961045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:34961045C>T	uc004ddi.1	+	1	115	c.97C>T	c.(97-99)CGC>TGC	p.R33C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	33										ovary(3)|breast(1)	4						CTTCGCGAAGCGCAAGCACAG	0.617000												
CYBB	1536	broad.mit.edu	37	X	37664356	37664356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37664356G>A	uc004ddr.2	+	10	1310	c.1249G>A	c.(1249-1251)GCA>ACA	p.A417T	CYBB_uc011mkf.1_Missense_Mutation_p.A385T|CYBB_uc011mkg.1_Missense_Mutation_p.A150T	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	417	Cytoplasmic (Potential).				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CACACCCTTCGCATCCATTCT	0.488000												
USP9X	8239	broad.mit.edu	37	X	41075795	41075795	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:41075795G>A	uc004dfb.2	+	35	6608	c.5975G>A	c.(5974-5976)CGG>CAG	p.R1992Q	USP9X_uc004dfc.2_Missense_Mutation_p.R1992Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1992					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						AGAAGTGTACGGAAACAGAAC	0.368000												
CDK16	5127	broad.mit.edu	37	X	47083076	47083076	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:47083076C>T	uc004dho.2	+	2	516	c.120C>T	c.(118-120)GGC>GGT	p.G40G	CDK16_uc011mli.1_Silent_p.G46G|CDK16_uc011mlj.1_Silent_p.G40G|CDK16_uc011mlk.1_Silent_p.G40G|CDK16_uc011mll.1_Silent_p.G114G	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	40							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GTGGTGGTGGCGGCAGTGACC	0.622000												
SLC38A5	92745	broad.mit.edu	37	X	48325406	48325406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:48325406C>T	uc010nid.2	-	5	366	c.188G>A	c.(187-189)GGC>GAC	p.G63D	SLC38A5_uc004djk.3_Missense_Mutation_p.G12D	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	63	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						GATGCCGCTGCCCATGATGGC	0.617000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PORCN	64840	broad.mit.edu	37	X	48368302	48368302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:48368302C>T	uc010nie.1	+	2	252	c.94C>T	c.(94-96)CTC>TTC	p.L32F	PORCN_uc004djq.1_Missense_Mutation_p.L145F|PORCN_uc004djr.1_Missense_Mutation_p.L32F|PORCN_uc004djs.1_Missense_Mutation_p.L32F|PORCN_uc004djt.1_5'UTR|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.L32F|PORCN_uc004djw.1_Missense_Mutation_p.L32F	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	32	Helical; (Potential).|Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						GATCTGGCTGCTCCTTGCCAT	0.463000												
DGKK	139189	broad.mit.edu	37	X	50213090	50213090	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:50213090C>T	uc010njr.1	-	1	648	c.588G>A	c.(586-588)TCG>TCA	p.S196S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					atggcgatggcgaGGTCTTTA	0.463000												
SSX7	280658	broad.mit.edu	37	X	52682511	52682511	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:52682511G>A	uc004dqx.1	-	2	171	c.12C>T	c.(10-12)GAC>GAT	p.D4D		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CAAAGGCGTCGTCTCCGTTCA	0.547000												
KDM5C	8242	broad.mit.edu	37	X	53241077	53241077	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53241077C>T	uc004drz.2	-	9	1667	c.1134G>A	c.(1132-1134)CGG>CGA	p.R378R	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.R311R|KDM5C_uc004dsa.2_Silent_p.R377R	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	378					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						CTTCTGGGGGCCGCTTACACT	0.512000			N|F|S		clear cell renal carcinoma							
KDM5C	8242	broad.mit.edu	37	X	53246351	53246351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53246351G>A	uc004drz.2	-	5	1164	c.631C>T	c.(631-633)CGG>TGG	p.R211W	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R144W|KDM5C_uc004dsa.2_Missense_Mutation_p.R210W	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	211					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						TTGGCCCGCCGGCCATAGCTG	0.532000			N|F|S		clear cell renal carcinoma							
HUWE1	10075	broad.mit.edu	37	X	53566005	53566005	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:53566005T>C	uc004dsp.2	-	76	12071	c.11669A>G	c.(11668-11670)CAT>CGT	p.H3890R	HUWE1_uc004dsn.2_Missense_Mutation_p.H2698R|HUWE1_uc004dsq.1_Missense_Mutation_p.H190R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3890					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						CTCTGTGGCATGGACCAGAAA	0.542000												
WNK3	65267	broad.mit.edu	37	X	54278032	54278032	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54278032T>C	uc004dtd.1	-	14	2895	c.2456A>G	c.(2455-2457)CAT>CGT	p.H819R	WNK3_uc004dtc.1_Missense_Mutation_p.H819R	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	819					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						AAAGTGGACATGAAGGATCTC	0.418000												
MAGED2	10916	broad.mit.edu	37	X	54836447	54836447	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54836447C>T	uc004dtk.1	+	3	432	c.338C>T	c.(337-339)CCG>CTG	p.P113L	MAGED2_uc004dtl.1_Missense_Mutation_p.P113L|MAGED2_uc004dtm.1_Missense_Mutation_p.P75L|MAGED2_uc010nkc.1_Missense_Mutation_p.P113L|MAGED2_uc004dtn.1_Missense_Mutation_p.P113L|MAGED2_uc004dto.1_Missense_Mutation_p.P87L	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	113										ovary(2)|breast(1)	3						AATGCTGACCCGCAGGCTGTG	0.527000												
ZXDA	7789	broad.mit.edu	37	X	57935671	57935671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:57935671C>T	uc004dve.2	-	1	1397	c.1184G>A	c.(1183-1185)GGC>GAC	p.G395D		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	395	C2H2-type 5.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CTTCTTGCAGCCAGAAAACGC	0.572000												
STARD8	9754	broad.mit.edu	37	X	67941513	67941513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:67941513C>T	uc004dxa.2	+	9	2516	c.2144C>T	c.(2143-2145)GCA>GTA	p.A715V	STARD8_uc004dxb.2_Missense_Mutation_p.A795V|STARD8_uc004dxc.3_Missense_Mutation_p.A715V	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	715	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CAGATGACAGCAGGCAACCTG	0.572000												
ZMYM3	9203	broad.mit.edu	37	X	70468578	70468578	+	Silent	SNP	T	T	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70468578T>G	uc004dzh.1	-	9	1782	c.1695A>C	c.(1693-1695)ACA>ACC	p.T565T	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.T565T|ZMYM3_uc004dzj.1_Silent_p.T565T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	565					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)					ACTGGTAGACTGTGCGGTCAA	0.537000												
TAF1	6872	broad.mit.edu	37	X	70612474	70612474	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70612474A>T	uc004dzu.3	+	19	2885	c.2834A>T	c.(2833-2835)AAG>ATG	p.K945M	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.K966M|TAF1_uc004dzv.3_Missense_Mutation_p.K119M	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	945					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATGAAGGGCAAGTGTCTGCTA	0.502000												
ERCC6L	54821	broad.mit.edu	37	X	71428342	71428342	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:71428342A>G	uc004eaq.1	-	2	372	c.275T>C	c.(274-276)CTG>CCG	p.L92P	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	92					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					TTGGTTGTGCAGTTCTCGATA	0.438000												
RLIM	51132	broad.mit.edu	37	X	73811803	73811803	+	Silent	SNP	A	A	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:73811803A>T	uc004ebu.2	-	5	1637	c.1347T>A	c.(1345-1347)TCT>TCA	p.S449S	RLIM_uc004ebw.2_Silent_p.S449S	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	449	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TACCACCACCAGAACCTCCTC	0.284000												
MAGEE1	57692	broad.mit.edu	37	X	75648366	75648366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:75648366G>A	uc004ecm.1	+	1	250	c.43G>A	c.(43-45)GTT>ATT	p.V15I		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	15						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ccgccgccgcgTTGCAAAGGC	0.572000												
CYSLTR1	10800	broad.mit.edu	37	X	77528566	77528566	+	Silent	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:77528566T>C	uc004edb.2	-	3	1078	c.678A>G	c.(676-678)TCA>TCG	p.S226S	CYSLTR1_uc010nma.2_Silent_p.S226S|CYSLTR1_uc010nmb.2_Silent_p.S226S	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	226	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			ovary(1)	1					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTATGACTTGACAGATTTT	0.323000												
POU3F4	5456	broad.mit.edu	37	X	82763842	82763842	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:82763842G>A	uc004eeg.2	+	1	574	c.510G>A	c.(508-510)CCG>CCA	p.P170P		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	170					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GAGAGCCCCCGGATCACGGCG	0.617000												
ZNF711	7552	broad.mit.edu	37	X	84510755	84510755	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:84510755T>A	uc004eeo.2	+	4	917	c.570T>A	c.(568-570)GAT>GAA	p.D190E	ZNF711_uc004eep.2_Missense_Mutation_p.D190E|ZNF711_uc004eeq.2_Missense_Mutation_p.D190E	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	190					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						AAACCGAAGATGATGATGATG	0.358000												
DACH2	117154	broad.mit.edu	37	X	85906124	85906124	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:85906124C>T	uc004eew.2	+	4	896	c.726C>T	c.(724-726)AGC>AGT	p.S242S	DACH2_uc004eex.2_Silent_p.S229S|DACH2_uc010nmq.2_Silent_p.S108S|DACH2_uc011mra.1_Silent_p.S75S|DACH2_uc010nmr.2_Silent_p.S23S	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						GAAATGGAAGCCAAAATGGGA	0.443000												
DIAPH2	1730	broad.mit.edu	37	X	96212939	96212939	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:96212939C>A	uc004efu.3	+	16	2123	c.1727C>A	c.(1726-1728)CCT>CAT	p.P576H	DIAPH2_uc004eft.3_Missense_Mutation_p.P576H	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	576	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GGAGGAGCTCCTCTTCCTCCT	0.602000												
TSPAN6	7105	broad.mit.edu	37	X	99891687	99891687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:99891687G>A	uc004ega.1	-	1	108	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TSPAN6_uc010nna.1_5'UTR	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	2	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						AGACGGGGACGCCATGACTAG	0.557000												
XKRX	402415	broad.mit.edu	37	X	100169733	100169733	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100169733A>G	uc004egn.2	-	3	1549	c.944T>C	c.(943-945)GTC>GCC	p.V315A	XKRX_uc011mre.1_Missense_Mutation_p.V111A	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	315	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						GAGGATGGTGACTGAAATCAG	0.507000												
BTK	695	broad.mit.edu	37	X	100613619	100613619	+	Silent	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100613619A>G	uc004ehg.2	-	11	1153	c.960T>C	c.(958-960)TTT>TTC	p.F320F	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.F320F|BTK_uc010nno.2_Silent_p.F354F|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.F320F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	320	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TGGATTTAGCAAACACAGACA	0.488000									Agammaglobulinemia_X-linked			
BHLHB9	80823	broad.mit.edu	37	X	102005119	102005119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:102005119G>A	uc010nog.2	+	4	1767	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	BHLHB9_uc011mrq.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrr.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrs.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrt.1_Missense_Mutation_p.R399H|BHLHB9_uc004ejo.2_Missense_Mutation_p.R399H|BHLHB9_uc011mru.1_Missense_Mutation_p.R399H|BHLHB9_uc011mrv.1_Missense_Mutation_p.R399H	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	399						cytoplasm|nucleus	binding			ovary(2)	2						GAAAGACAACGCAAAATTGAA	0.383000												
NRK	203447	broad.mit.edu	37	X	105197095	105197095	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:105197095G>T	uc004emd.2	+	28	4886	c.4583G>T	c.(4582-4584)AGG>ATG	p.R1528M	NRK_uc011msi.1_Missense_Mutation_p.R109M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1528	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						TTGCAATCCAGGGTTCTGGAA	0.453000										HNSCC(51;0.14)		
TEX13B	56156	broad.mit.edu	37	X	107224610	107224610	+	Silent	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:107224610G>T	uc004enn.1	-	3	732	c.639C>A	c.(637-639)GTC>GTA	p.V213V		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	213										ovary(1)	1						GCCCCTGCAAGACCTCTGCGG	0.607000												
PLS3	5358	broad.mit.edu	37	X	114869331	114869331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:114869331G>A	uc004eqd.2	+	7	1111	c.721G>A	c.(721-723)GCT>ACT	p.A241T	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.A219T|PLS3_uc004eqe.2_Missense_Mutation_p.A241T|PLS3_uc011mtg.1_Missense_Mutation_p.A214T|PLS3_uc011mth.1_Missense_Mutation_p.A196T	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	241	Actin-binding 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						CGGTTTGTTCGCTGACATTGA	0.423000												
NKAP	79576	broad.mit.edu	37	X	119068456	119068456	+	Splice_Site	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119068456C>T	uc004esh.2	-	5	904	c.737_splice	c.e5+1	p.S246_splice	NKAP_uc004esg.2_Splice_Site_p.S133_splice	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein						negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						AAAAAACTGACGATCTGTGTT	0.184000												
FAM70A	55026	broad.mit.edu	37	X	119438315	119438315	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119438315G>C	uc004eso.3	-	2	317	c.90C>G	c.(88-90)ATC>ATG	p.I30M	FAM70A_uc004esp.3_Missense_Mutation_p.I30M|FAM70A_uc010nqo.2_Missense_Mutation_p.I30M	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	30	Helical; (Potential).					integral to membrane				lung(1)|breast(1)	2						CGGTGACATAGATGGAGTTTC	0.433000												
FAM70A	55026	broad.mit.edu	37	X	119445132	119445132	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:119445132G>A	uc004eso.3	-	1	260	c.33C>T	c.(31-33)AGC>AGT	p.S11S	FAM70A_uc004esp.3_Silent_p.S11S|FAM70A_uc010nqo.2_Silent_p.S11S	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	11						integral to membrane				lung(1)|breast(1)	2						GGGACATGTCGCTGGACCGCT	0.672000												
GRIA3	2892	broad.mit.edu	37	X	122319770	122319770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:122319770G>A	uc004etq.3	+	3	489	c.196G>A	c.(196-198)GAG>AAG	p.E66K	GRIA3_uc004etr.3_Missense_Mutation_p.E66K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E50K|GRIA3_uc010nqs.1_Missense_Mutation_p.E66K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	66	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	GAACACCACCGAGAAGCCCTT	0.458000												
THOC2	57187	broad.mit.edu	37	X	122765540	122765540	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:122765540G>A	uc004etu.2	-	22	2512	c.2480C>T	c.(2479-2481)TCG>TTG	p.S827L	THOC2_uc011muh.1_Missense_Mutation_p.S752L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	827					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGTACTTACCGAAATATGATG	0.393000												
DCAF12L2	340578	broad.mit.edu	37	X	125298904	125298904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:125298904C>T	uc004euk.1	-	1	1031	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTGGCGCTGGCGCGGATCCAG	0.627000												
ZDHHC9	51114	broad.mit.edu	37	X	128963037	128963037	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:128963037A>G	uc004euv.2	-	3	617	c.248T>C	c.(247-249)CTG>CCG	p.L83P	ZDHHC9_uc004euw.2_Missense_Mutation_p.L83P|ZDHHC9_uc004eux.1_Missense_Mutation_p.L83P|ZDHHC9_uc004euy.1_Missense_Mutation_p.L10P	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	83	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						GGTCCTCAACAGTGTAGCCAT	0.522000												
TFDP3	51270	broad.mit.edu	37	X	132351559	132351559	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132351559G>A	uc004exb.1	-	1	818	c.729C>T	c.(727-729)AGC>AGT	p.S243S		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	243	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GCGGCCGCTGGCTGACCTGCT	0.488000												
GPC4	2239	broad.mit.edu	37	X	132438841	132438841	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132438841A>G	uc004exc.1	-	7	1416	c.1204T>C	c.(1204-1206)TCC>CCC	p.S402P	GPC4_uc011mvg.1_Missense_Mutation_p.S332P	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	402					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					CTCGGAAGGGAGGACCAGAAT	0.423000												
GPC4	2239	broad.mit.edu	37	X	132439828	132439828	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:132439828G>A	uc004exc.1	-	6	1339	c.1127C>T	c.(1126-1128)ACA>ATA	p.T376I	GPC4_uc011mvg.1_Missense_Mutation_p.T306I	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	376					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					GCCAGCTGCTGTGGTTGGGCG	0.517000												
ZIC3	7547	broad.mit.edu	37	X	136651098	136651098	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:136651098C>T	uc004fak.2	+	2	1603	c.1098C>T	c.(1096-1098)GAC>GAT	p.D366D		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	366	C2H2-type 4.				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)					AAGGCTGTGACAGACGCTTTG	0.502000												
FGF13	2258	broad.mit.edu	37	X	137939797	137939797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:137939797G>A	uc004faq.2	-	2	270	c.94C>T	c.(94-96)CGA>TGA	p.R32*	FGF13_uc011mwi.1_Nonsense_Mutation_p.R3*|FGF13_uc004far.2_Nonsense_Mutation_p.R3*|FGF13_uc011mwj.1_Nonsense_Mutation_p.R32*|FGF13_uc011mwk.1_Intron	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	Error:Variant_position_missing_in_Q92913_after_alignment					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)					GAATCTTGTCGTAACATAATG	0.463000												
SPANXC	64663	broad.mit.edu	37	X	140336519	140336519	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:140336519C>T	uc004fbk.2	-	1	128	c.72G>A	c.(70-72)ACG>ACA	p.T24T	SPANXC_uc004fbl.2_Intron	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	sperm protein associated with the nucleus, X	24						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					acaATCTTACCGTCTCATTCA	0.269000												
MAGEC3	139081	broad.mit.edu	37	X	140985151	140985151	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:140985151G>T	uc011mwp.1	+	7	1607	c.1607G>T	c.(1606-1608)AGC>ATC	p.S536I	MAGEC3_uc004fbs.2_Missense_Mutation_p.S238I|MAGEC3_uc010nsj.2_Missense_Mutation_p.S238I	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	536	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TATGAGGGAAGCCTGATTGAT	0.473000												
MAGEC2	51438	broad.mit.edu	37	X	141291102	141291102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:141291102C>T	uc004fbu.1	-	3	1020	c.672G>A	c.(670-672)ATG>ATA	p.M224I		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	224	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCTCGGGCATGCCCTCAT	0.507000										HNSCC(46;0.14)		
CXorf40A	91966	broad.mit.edu	37	X	148627251	148627251	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:148627251G>A	uc004fdb.2	+	4	347	c.75G>A	c.(73-75)ACG>ACA	p.T25T	CXorf40A_uc011mxm.1_Silent_p.T25T|CXorf40A_uc011mxn.1_Silent_p.T25T|CXorf40A_uc004fdd.2_Silent_p.T25T|CXorf40A_uc004fde.1_Silent_p.T25T|CXorf40A_uc011mxo.1_Missense_Mutation_p.A115T|CXorf40A_uc004fdg.2_Silent_p.T25T|CXorf40A_uc004fdf.2_Silent_p.T25T|CXorf40A_uc004fdh.2_Silent_p.T25T|CXorf40A_uc010nsy.2_Silent_p.T25T|CXorf40A_uc004fdi.2_Silent_p.T42T	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	25							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGGAGACGCGCTGGCGTC	0.617000												
MTM1	4534	broad.mit.edu	37	X	149814219	149814219	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:149814219G>A	uc004fef.3	+	9	818	c.742G>A	c.(742-744)GGT>AGT	p.G248S	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.G211S|MTM1_uc011mxz.1_Missense_Mutation_p.G133S|MTM1_uc010nte.2_Missense_Mutation_p.G116S	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	248	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTTGTCGGTATGAGTGG	0.383000												
MTMR1	8776	broad.mit.edu	37	X	149931081	149931081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:149931081C>T	uc004fei.2	+	15	2012	c.1877C>T	c.(1876-1878)GCG>GTG	p.A626V	MTMR1_uc011mya.1_Missense_Mutation_p.A532V|MTMR1_uc004feh.1_Missense_Mutation_p.A634V|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	626						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTCAGGGCGGAGCTGCAG	0.637000												
GPR50	9248	broad.mit.edu	37	X	150348872	150348872	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:150348872A>C	uc010ntg.1	+	2	952	c.817A>C	c.(817-819)AAC>CAC	p.N273H	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	273	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGATCCCCAACTGGCTTTA	0.507000												
GABRA3	2556	broad.mit.edu	37	X	151532939	151532939	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:151532939T>C	uc010ntk.1	-	2	344	c.104A>G	c.(103-105)CAA>CGA	p.Q35R		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	35	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(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCGGGTTCTTGTCGTCTTGA	0.443000												
ATP2B3	492	broad.mit.edu	37	X	152807798	152807798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:152807798G>A	uc004fht.1	+	4	808	c.682G>A	c.(682-684)GAC>AAC	p.D228N	ATP2B3_uc004fhs.1_Missense_Mutation_p.D228N	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	228	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCCAGCCGACGGCGTGCT	0.657000												
DUSP9	1852	broad.mit.edu	37	X	152915736	152915736	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:152915736C>T	uc004fhx.3	+	4	1335	c.1131C>T	c.(1129-1131)GGC>GGT	p.G377G	DUSP9_uc004fhy.3_Silent_p.G377G	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	377	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)					CCAGTGATGGCGCCTTCGAGC	0.736000												
IDH3G	3421	broad.mit.edu	37	X	153052285	153052285	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153052285A>G	uc004fip.2	-	10	1081	c.895T>C	c.(895-897)TAT>CAT	p.Y299H	IDH3G_uc004fio.2_Missense_Mutation_p.Y241H|IDH3G_uc004fiq.2_Missense_Mutation_p.Y299H|IDH3G_uc010num.2_Missense_Mutation_p.Y241H|IDH3G_uc004fir.2_Missense_Mutation_p.Y241H|IDH3G_uc004fit.1_Missense_Mutation_p.Y299H|IDH3G_uc004fis.2_Missense_Mutation_p.Y241H|IDH3G_uc004fiu.2_Missense_Mutation_p.Y75H	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	299					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)	ACATGGCCATAGTTGGCCCCA	0.517000												
TKTL1	8277	broad.mit.edu	37	X	153549180	153549180	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153549180G>A	uc004fkg.2	+	8	1292	c.1106G>A	c.(1105-1107)CGA>CAA	p.R369Q	TKTL1_uc011mzl.1_Missense_Mutation_p.R363Q|TKTL1_uc011mzm.1_Missense_Mutation_p.R165Q|TKTL1_uc004fkh.2_Missense_Mutation_p.R313Q	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	369					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					TTTCTGACTCGAGCATTTGAT	0.517000												
RPL10	6134	broad.mit.edu	37	X	153626868	153626868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153626868G>A	uc004fkm.2	+	2	196	c.8G>A	c.(7-9)CGC>CAC	p.R3H	uc010nuv.1_5'UTR|RPL10_uc004fko.2_Missense_Mutation_p.R3H|RPL10_uc004fkn.1_Missense_Mutation_p.R3H|RPL10_uc004fkp.1_Missense_Mutation_p.R3H|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	3					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)					GCCATGGGCCGCCGCCCCGCC	0.562000												
SLC10A3	8273	broad.mit.edu	37	X	153716404	153716404	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153716404C>T	uc004flq.2	-	3	1140	c.876G>A	c.(874-876)ACG>ACA	p.T292T	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.T263T|SLC10A3_uc004flp.2_Silent_p.T292T	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	292	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCAGCCACCGTAGAGAGGA	0.617000												
SLC10A3	8273	broad.mit.edu	37	X	153716482	153716482	+	Silent	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153716482G>A	uc004flq.2	-	3	1062	c.798C>T	c.(796-798)GGC>GGT	p.G266G	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.G237G|SLC10A3_uc004flp.2_Silent_p.G266G	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	266	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCCCCGCCGCCAGGCGACG	0.607000												
CTAG2	30848	broad.mit.edu	37	X	153880696	153880696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153880696G>A	uc004fmi.1	-	2	532	c.479C>T	c.(478-480)CCG>CTG	p.P160L	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	160						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCCCTCCGGGGAGGCGGA	0.632000												
CTAG2	30848	broad.mit.edu	37	X	153880812	153880812	+	Silent	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153880812C>T	uc004fmi.1	-	2	416	c.363G>A	c.(361-363)GCG>GCA	p.A121A	CTAG2_uc004fmh.1_Silent_p.A121A	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	121						centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTCAGAACCGCCCCTGGTC	0.647000												
GAB3	139716	broad.mit.edu	37	X	153944591	153944591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:153944591C>T	uc004fmj.1	-	2	134	c.86G>A	c.(85-87)CGC>CAC	p.R29H	GAB3_uc004fmk.1_Missense_Mutation_p.R29H|GAB3_uc010nve.1_Missense_Mutation_p.R29H|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	29	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAAACCAGCGCTTGCGCCA	0.542000												
RBM28	55131	broad.mit.edu	37	7	127979377	127979378	+	Splice_Site	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378insA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CTGAGTTTTCTAAAAAATAAGA	0.401												
ENAH	55740	broad.mit.edu	37	1	225742788	225742788	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:225742787_225742787TA>T	uc001hpc.1	-	3	625	c.172_splice	c.e3-1	p.V58_splice	ENAH_uc021pju.1_Splice_Site_p.V45_splice|ENAH_uc001hpd.1_Splice_Site_p.V58_splice	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	58	WH1.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TATCACGACCTAAAAAATAAT	0.363												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
CRYGB	1419	broad.mit.edu	37	2	209010499	209010499	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				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	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
AKD1	221264	broad.mit.edu	37	6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:109980431_109980433CTCT>C	uc003ptn.2	-	7	707	c.630_splice	c.e7+1	p.E210_splice	AKD1_uc003ptr.4_Splice_Site_p.E210_splice|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	210	Glu-rich.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						GAGATATTACCtcttcttcttct	0.350												
NAPEPLD	222236	broad.mit.edu	37	7	102769242	102769242	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338												
RBM28	55131	broad.mit.edu	37	7	127979378	127979379	+	Splice_Site	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378T>TA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	93					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGAGTTTTCTAAAAAATAAGA	0.401												
DPY19L4	286148	broad.mit.edu	37	8	95792646	95792646	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:95792645_95792645TA>T	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+2	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGGAAAGAGGtaaaaaaatta	0.294												
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373												
PSIP1	11168	broad.mit.edu	37	9	15468955	15468955	+	Splice_Site	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:15468954_15468954CT>C	uc003zlv.4	-	13	1536	c.1206_splice	c.e13+1	p.K402_splice	PSIP1_uc003zlw.4_Splice_Site_p.K402_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	402					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)		AAATCACTTACTTTTTTCAGT	0.318												
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Splice_Site	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:18829842_18829842TC>T	uc003zne.4	+	23	4267	c.4115_splice	c.e23-1	p.D1372_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAG	0.567												
CD72	971	broad.mit.edu	37	9	35612993	35612993	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35612992_35612992TA>T	uc003zxb.2	-	6	813	c.689_splice	c.e6-1	p.D230_splice	CD72_uc010mkt.1_Splice_Site_p.D15_splice|CD72_uc010mku.2_Intron	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	230					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGTCTAAAAAGCAGA	0.418												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
SYCE1	93426	broad.mit.edu	37	10	135369214	135369214	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135369213_135369213TG>T	uc001lno.2	-	11	825	c.720_splice	c.e11-1	p.V240_splice	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Splice_Site_p.V112_splice|SYCE1_uc009ybn.2_Splice_Site_p.V240_splice|SYCE1_uc001lnn.2_Splice_Site_p.V204_splice	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	240					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AACAGCTGCCTGGGGGGCCCA	0.642												
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
SCYL1	57410	broad.mit.edu	37	11	65304600	65304601	+	Splice_Site	DEL	GT	GT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65304599_65304600GGT>G	uc001oea.1	+	14	2036	c.1959_splice	c.e14+1	p.E653_splice	SCYL1_uc009yqk.3_Splice_Site_p.E653_splice|SCYL1_uc001oeb.1_Splice_Site_p.E636_splice|SCYL1_uc001oec.1_Splice_Site_p.E653_splice|SCYL1_uc001oee.1_Splice_Site_p.E297_splice	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	653					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAGCCTGGAGGTGTGTGGGGC	0.639												
KIF21A	55605	broad.mit.edu	37	12	39735929	39735929	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333												
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055263	+	Splice_Site	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:64055262_64055262CT>C	uc001srp.1	-	4	632	c.451_splice	c.e4-1	p.G151_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	151					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAA	0.259												
SOS2	6655	broad.mit.edu	37	14	50606661	50606661	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:50606660_50606660CA>C	uc001wxs.4	-	17	2883	c.2785_splice	c.e17+1	p.G929_splice	SOS2_uc010tql.2_Splice_Site_p.G896_splice|SOS2_uc010tqm.1_Splice_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	929	Ras-GEF.				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	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGC	0.343												
DUT	1854	broad.mit.edu	37	15	48633714	48633714	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:48633713_48633713CA>C	uc001zws.3	+	6	724	c.632_splice	c.e6-1	p.V211_splice	DUT_uc001zwt.3_Splice_Site_p.V100_splice|DUT_uc001zww.3_Splice_Site_p.V123_splice	NM_001025248	NP_001020420	P33316	DUT_HUMAN	Homo sapiens deoxyuridine triphosphatase (DUT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TCTTTGAAGTCAAAAAAGGTG	0.318								Modulation of nucleotide pools				
MYO5C	55930	broad.mit.edu	37	15	52564923	52564923	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCAACGGCCTAAAAAAAATA	0.363												
SMPD3	55512	broad.mit.edu	37	16	68397465	68397465	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:68397464_68397464TG>T	uc002ewa.3	-	7	2068	c.1646_splice	c.e7-1	p.G549_splice	SMPD3_uc010cfe.3_Splice_Site_p.G549_splice|SMPD3_uc010vlh.2_Splice_Site_p.G541_splice	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	549					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCAGAGTACCTGGGGGGGACG	0.667												
C16orf7	9605	broad.mit.edu	37	16	89778933	89778934	+	Splice_Site	INS	-	-	G	rs143123169	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
PSTPIP2	9050	broad.mit.edu	37	18	43595906	43595906	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383												
PLA2G4C	8605	broad.mit.edu	37	19	48588317	48588317	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48588316_48588316CA>C	uc010xzd.2	-	10	1211	c.874_splice	c.e10+1	p.A292_splice	PLA2G4C_uc002phw.3_Splice_Site_p.A217_splice|PLA2G4C_uc010elr.3_Splice_Site_p.A282_splice|PLA2G4C_uc002phx.3_Splice_Site_p.A282_splice	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	282	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AAATACTCACCAAAAATAAGG	0.393												
AJAP1	55966	broad.mit.edu	37	1	4829992	4829992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:4829992delA	uc001alm.1	+	3	1290	c.909delA	c.(907-909)TTAfs	p.L303fs	AJAP1_uc001aln.2_Frame_Shift_Del_p.L303fs	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	303	Targeting signals.|Helical; Signal-anchor for type III membrane protein; (Potential).			L->A: Mistargeting to the apical membrane.	cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCTTGTCTTAAAAAATTGGT	0.512												
PADI6	353238	broad.mit.edu	37	1	17721598	17721598	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:17721598delA	uc001bak.1	+	13	1489	c.1489delA	c.(1489-1491)AAAfs	p.K497fs		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	489					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAATGAGGGCAAAAAGGTCTG	0.498												
TMEM57	55219	broad.mit.edu	37	1	25785019	25785019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:25785019delA	uc001bkk.2	+	6	992	c.790delA	c.(790-792)AAAfs	p.K264fs	TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	264						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGATGCCAAAAAACACAA	0.353												
FNDC5	252995	broad.mit.edu	37	1	33330280	33330280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:33330280delC	uc001bwg.2	-	5	608	c.393delG	c.(391-393)GGGfs	p.G131fs	FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Frame_Shift_Del_p.G131fs	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	190	Cytoplasmic (Potential).					integral to membrane|peroxisomal membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCGGAGAAGCCCCCCGCCCT	0.587												
COL8A2	1296	broad.mit.edu	37	1	36564202	36564203	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36564202_36564203insG	uc001bzv.1	-	2	1086_1087	c.1079_1080insC	c.(1078-1080)CCTfs	p.P360fs	COL8A2_uc001bzw.1_Frame_Shift_Ins_p.P295fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	360	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)				CAGGAAGTCCAGGGGGACCCCC	0.708												
OXCT2	64064	broad.mit.edu	37	1	40235958	40235958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:40235958delG	uc001ceb.1	-	1	1063	c.970delC	c.(970-972)CTGfs	p.L324fs	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Frame_Shift_Del_p.L318fs	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	324					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTGGCCAGCAGGGGGATGCCT	0.587											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLIS1	148979	broad.mit.edu	37	1	54060232	54060232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:54060232delC	uc001cvr.1	-	3	911	c.344delG	c.(343-345)GGCfs	p.G115fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	115					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTTGGAAGGGCCCCCCAGATC	0.647												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:68171151delT	uc001dea.1	-	4	394	c.202delA	c.(202-204)ACTfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0						ATGATGCAAGTTTTTTTATCC	0.438												
C1orf173	127254	broad.mit.edu	37	1	75078435	75078436	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75078435_75078436insA	uc001dgg.2	-	9	1277_1278	c.1058_1059insT	c.(1057-1059)TTCfs	p.F353fs	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Frame_Shift_Ins_p.F147fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	353										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCCATTCAGGAAAAAGGTGAG	0.426												
ADAMTSL4	54507	broad.mit.edu	37	1	150526141	150526141	+	Frame_Shift_Del	DEL	C	C	-	rs145240194		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150526141delC	uc001eux.2	+	6	910	c.674delC	c.(673-675)TCCfs	p.S225fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.S225fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.S225fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.S225fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	225					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACACCCCATCCCCCCAAGCA	0.622												
RFX5	5993	broad.mit.edu	37	1	151314788	151314789	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151314788_151314789insT	uc001exv.1	-	11	1938_1939	c.1724_1725insA	c.(1723-1725)AAGfs	p.K575fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.K575fs|RFX5_uc009wmr.1_Frame_Shift_Ins_p.K575fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.K535fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	575						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GAAAAGCCTCCTTTTGGCTTCT	0.490												
RFX5	5993	broad.mit.edu	37	1	151317583	151317583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151317583delT	uc001exv.1	-	5	446	c.232delA	c.(232-234)AGCfs	p.S78fs	RFX5_uc001exw.1_Frame_Shift_Del_p.S78fs|RFX5_uc009wmr.1_Frame_Shift_Del_p.S78fs|RFX5_uc010pcx.1_Frame_Shift_Del_p.R78fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	78	N-terminal domain.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CAAACCTACCTTTTGTCTCCA	0.448												
FLG	2312	broad.mit.edu	37	1	152280785	152280785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:152280785delT	uc001ezu.1	-	3	6613	c.6577delA	c.(6577-6579)ACAfs	p.T2193fs		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2193	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)			TTGTCATATGTTTTTCTGCTT	0.542									Ichthyosis			
OR6N2	81442	broad.mit.edu	37	1	158746767	158746768	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158746767_158746768insT	uc010pir.1	-	1	658_659	c.658_659insA	c.(658-660)AGGfs	p.R220fs		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					CCCAATGATCCTTGCATAAGAA	0.421												
NDUFS2	4720	broad.mit.edu	37	1	161176356	161176358	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:161176356_161176358delAGA	uc001fyv.2	+	4	810_812	c.362_364delAGA	c.(361-366)GAGAAG>GAG	p.K122del	NDUFS2_uc010pki.1_In_Frame_Del_p.K24del|NDUFS2_uc001fyw.2_In_Frame_Del_p.K122del|NDUFS2_uc010pkj.1_In_Frame_Del_p.K71del|NDUFS2_uc001fyx.2_In_Frame_Del_p.K122del|NDUFS2_uc001fyy.1_In_Frame_Del_p.K71del	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CGAGGCACTGAGAAGCTCATTGA	0.562												
RCSD1	92241	broad.mit.edu	37	1	167654711	167654711	+	Frame_Shift_Del	DEL	C	C	-	rs144007158	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:167654711delC	uc001gem.2	+	3	349	c.162delC	c.(160-162)TTCfs	p.F54fs	RCSD1_uc010pli.1_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					TCCCCCTGTTCCCCCCCAAGG	0.557												
LAMC1	3915	broad.mit.edu	37	1	183109589	183109590	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:183109589_183109590delCT	uc001gpy.3	+	27	4781_4782	c.4524_4525delCT	c.(4522-4527)AACTCTfs	p.N1508fs		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1508_1509	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGCCAAAAACTCTGTTACTAG	0.431												
LRRN2	10446	broad.mit.edu	37	1	204587829	204587829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:204587829delG	uc001hbe.1	-	3	1680	c.1292delC	c.(1291-1293)CCAfs	p.P431fs	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.P431fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.P431fs|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	431	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGGAGGCTTGGGGGGAAGCT	0.657												
MPP7	143098	broad.mit.edu	37	10	28343108	28343108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:28343108delA	uc001iua.1	-	19	2021	c.1617delT	c.(1615-1617)TTTfs	p.F539fs	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Frame_Shift_Del_p.F539fs|MPP7_uc009xla.2_Frame_Shift_Del_p.F539fs	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	539	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TAATTTTGTCAAAAAGATGAC	0.323												
KIF5B	3799	broad.mit.edu	37	10	32311825	32311826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32311825_32311826insT	uc001iwe.3	-	16	2334_2335	c.1864_1865insA	c.(1864-1866)ATGfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTTG	0.347												
KIF20B	9585	broad.mit.edu	37	10	91497987	91497987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:91497987delA	uc001kgs.1	+	20	3461	c.3389delA	c.(3388-3390)GAAfs	p.E1130fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.E1090fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.E341fs|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1130					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GAATTGCAAGAAAAAAATGTT	0.338												
ATRNL1	26033	broad.mit.edu	37	10	116887435	116887435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:116887435delT	uc001lcg.2	+	4	956	c.570delT	c.(568-570)CATfs	p.H190fs	ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Frame_Shift_Del_p.H190fs|ATRNL1_uc009xyq.2_Frame_Shift_Del_p.H190fs	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	190	CUB.|Extracellular (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)		CACTGTTACATTTTTTTAGTG	0.313												
APBB1	322	broad.mit.edu	37	11	6424925	6424925	+	Frame_Shift_Del	DEL	G	G	-	rs139929849		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6424925delG	uc001mdb.1	-	3	949	c.849delC	c.(847-849)CCCfs	p.P283fs	APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Frame_Shift_Del_p.P63fs|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Frame_Shift_Del_p.P283fs|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Frame_Shift_Del_p.P48fs|APBB1_uc010raf.1_Frame_Shift_Del_p.P24fs|APBB1_uc009yfa.2_Frame_Shift_Del_p.P24fs|APBB1_uc009yey.2_Frame_Shift_Del_p.P24fs|APBB1_uc010rag.1_Frame_Shift_Del_p.P24fs|APBB1_uc009yfb.2_Frame_Shift_Del_p.P24fs|APBB1_uc001mde.2_Frame_Shift_Del_p.P24fs|APBB1_uc010rah.1_Frame_Shift_Del_p.P24fs	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	283	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCCCGGCCGGGGGGTTCCC	0.652												
OR4D11	219986	broad.mit.edu	37	11	59271133	59271134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:59271133_59271134insT	uc001noa.1	+	1	85_86	c.85_86insT	c.(85-87)CTTfs	p.L29fs		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGTCTTGTTTCTTTTTTTATGT	0.436												
TMEM132A	54972	broad.mit.edu	37	11	60704176	60704176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:60704176delG	uc001nqj.2	+	11	3062	c.2869delG	c.(2869-2871)GGGfs	p.G957fs	TMEM132A_uc001nqi.2_Frame_Shift_Del_p.G958fs|TMEM132A_uc001nqm.2_Frame_Shift_Del_p.G167fs	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	957	Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						AAAGGAGGCTGGGGGGCGGCG	0.687												
SF1	7536	broad.mit.edu	37	11	64535117	64535117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64535117delG	uc001obb.1	-	10	1645	c.1268delC	c.(1267-1269)CCTfs	p.P423fs	SF1_uc010rnm.1_Frame_Shift_Del_p.P115fs|SF1_uc010rnn.1_Frame_Shift_Del_p.P397fs|SF1_uc001oaz.1_Frame_Shift_Del_p.P548fs|SF1_uc001oba.1_Frame_Shift_Del_p.P423fs|SF1_uc001obc.1_Frame_Shift_Del_p.P423fs|SF1_uc001obd.1_Frame_Shift_Del_p.P423fs|SF1_uc001obe.1_Frame_Shift_Del_p.P308fs|SF1_uc010rno.1_Frame_Shift_Del_p.P308fs	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	423	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						CTGCATCCAAGGGGGTGGGGG	0.632											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYEOV	26579	broad.mit.edu	37	11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:69063724delG	uc001oov.2	+	3	1257	c.807delG	c.(805-807)CTGfs	p.L269fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	269											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TTGAGGCCCTGGGGGGGTGGC	0.597												
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:71948748delC	uc001osf.2	+	26	3607	c.3460delC	c.(3460-3462)CCCfs	p.P1154fs	INPPL1_uc001osg.2_Frame_Shift_Del_p.P912fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1154					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GGAGCTGCAGCCCCCCCGGGG	0.697												
RELT	84957	broad.mit.edu	37	11	73101832	73101832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:73101832delC	uc001otv.2	+	4	318	c.153delC	c.(151-153)TGCfs	p.C51fs	RELT_uc001otw.2_Frame_Shift_Del_p.C51fs|RELT_uc009yto.1_5'UTR|RELT_uc001otx.2_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	51	TNFR-Cys.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						GCAGGCCCTGCCCCCCAGGCA	0.667												
TTC12	54970	broad.mit.edu	37	11	113230172	113230172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:113230172delT	uc001pnu.2	+	17	1639	c.1534delT	c.(1534-1536)TTTfs	p.F512fs	TTC12_uc001pnv.2_Frame_Shift_Del_p.F518fs|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Frame_Shift_Del_p.F362fs	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	512							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCAGGCTCCCTTTGTCTCTGA	0.502												
BCL9L	283149	broad.mit.edu	37	11	118773127	118773127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:118773127delC	uc001pug.2	-	6	2290	c.1325delG	c.(1324-1326)GGCfs	p.G442fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.G437fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	442	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCTGGTGGGCCCCCCTCACC	0.667												
AKAP3	10566	broad.mit.edu	37	12	4736154	4736154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4736154delG	uc001qnb.3	-	4	2143	c.1914delC	c.(1912-1914)CCCfs	p.P638fs		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	638					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						CATATAGCCTGGGGGGAGAAG	0.542												
KIF21A	55605	broad.mit.edu	37	12	39745735	39745735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:39745735delT	uc001rly.2	-	11	1663	c.1517delA	c.(1516-1518)AACfs	p.N506fs	KIF21A_uc001rlx.2_Frame_Shift_Del_p.N506fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.N506fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.N506fs|KIF21A_uc001rma.1_Frame_Shift_Del_p.N514fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	506	Potential.				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)				TCTTGTCAAGTTTTTTCGAAG	0.333												
LRRK2	120892	broad.mit.edu	37	12	40699672	40699673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40699672_40699673insG	uc001rmg.3	+	28	3984_3985	c.3863_3864insG	c.(3862-3864)ATGfs	p.M1288fs	LRRK2_uc009zjw.2_Frame_Shift_Ins_p.M126fs|LRRK2_uc001rmi.2_Frame_Shift_Ins_p.M121fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1288	LRR 12.				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)				CCCAATGAAATGGGGAAATTAA	0.356												
HDAC7	51564	broad.mit.edu	37	12	48189044	48189045	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48189044_48189045insG	uc010slo.1	-	11	1401_1402	c.1206_1207insC	c.(1204-1209)CCCAGTfs	p.P402fs	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Frame_Shift_Ins_p.P365fs|HDAC7_uc001rqk.3_Frame_Shift_Ins_p.P385fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	363_364	Transcription repression 2 (By similarity).				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)		GCGGTGGCACTGGGGGGCAGGG	0.658												
WNT1	7471	broad.mit.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49374348delG	uc001rsu.2	+	3	698	c.500delG	c.(499-501)TGGfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.552												
SMARCC2	6601	broad.mit.edu	37	12	56557535	56557535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:56557535delG	uc001skb.2	-	28	3689	c.3583delC	c.(3583-3585)CTGfs	p.L1195fs	SMARCC2_uc001skd.2_Frame_Shift_Del_p.L1133fs|SMARCC2_uc001ska.2_Frame_Shift_Del_p.L1111fs|SMARCC2_uc001skc.2_Frame_Shift_Del_p.L1132fs|SMARCC2_uc010sqf.1_Frame_Shift_Del_p.L1000fs	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1195	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGGAGGCAGGGGGGTGCCT	0.632												
ASCL4	121549	broad.mit.edu	37	12	108169097	108169097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:108169097delC	uc001tmr.2	+	1	936	c.105delC	c.(103-105)GACfs	p.D35fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	34					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						CGCGGAGGGACCCCCTCAGGG	0.741												
ATXN2	6311	broad.mit.edu	37	12	111954046	111954046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:111954046delG	uc001tsj.2	-	10	1929	c.1767delC	c.(1765-1767)CCCfs	p.P589fs	ATXN2_uc001tsh.2_Frame_Shift_Del_p.P324fs|ATXN2_uc001tsi.2_Frame_Shift_Del_p.P300fs|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Frame_Shift_Del_p.P324fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	589	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						ATGGCCGCGAGGGGGGCCTGG	0.617												
MAPKAPK5	8550	broad.mit.edu	37	12	112308145	112308145	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112308145delT	uc001tta.2	+	6	723	c.464delT	c.(463-465)CTTfs	p.L155fs	MAPKAPK5_uc001tsz.2_Frame_Shift_Del_p.L155fs|MAPKAPK5_uc001ttb.2_Frame_Shift_Del_p.L88fs	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	155	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3						GAAAATCTGCTTTTTAAGGAT	0.423												
IQCD	115811	broad.mit.edu	37	12	113645381	113645381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113645381delT	uc001tuv.1	-	2	1013	c.591delA	c.(589-591)AAAfs	p.K197fs	IQCD_uc001tuu.2_Frame_Shift_Del_p.K197fs	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	197										ovary(1)	1						TAGTGAGTAGTTTTTCAAACA	0.443												
C13orf33	84935	broad.mit.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582												
BRCA2	675	broad.mit.edu	37	13	32954272	32954273	+	Frame_Shift_Ins	INS	-	-	A	rs80359190		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32954272_32954273insA	uc001uub.1	+	24	9473_9474	c.9246_9247insA	c.(9244-9249)GTGAAAfs	p.V3082fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3082_3083					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)		TTTCTGTTGTGAAAAAAACAGG	0.351			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)		
TINF2	26277	broad.mit.edu	37	14	24710896	24710897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24710896_24710897insA	uc001woa.3	-	3	725_726	c.383_384insT	c.(382-384)TTGfs	p.L128fs	TINF2_uc010alm.2_5'UTR|TINF2_uc001wob.3_Frame_Shift_Ins_p.L128fs|TINF2_uc010tof.1_Frame_Shift_Ins_p.L93fs|TINF2_uc001woc.3_Frame_Shift_Ins_p.L128fs	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	128					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding				0				GBM - Glioblastoma multiforme(265;0.0185)		GCTTCGAGGCCAAATCCACAGG	0.386									Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis			
FANCM	57697	broad.mit.edu	37	14	45645142	45645142	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:45645142delA	uc001wwd.3	+	14	3284	c.3185delA	c.(3184-3186)GAAfs	p.E1062fs	FANCM_uc010anf.2_Frame_Shift_Del_p.E1036fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.E598fs|FANCM_uc010ang.2_Frame_Shift_Del_p.E276fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1062					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						TATCCATCTGAAAAAAGTTGC	0.299								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:62242911delT	uc001xft.2	+	5	737	c.633delT	c.(631-633)GATfs	p.D211fs		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TAAAGGATGATTTTTTTGACA	0.358												
PLEKHH1	57475	broad.mit.edu	37	14	68053850	68053850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:68053850delC	uc001xjl.1	+	29	4135	c.3993delC	c.(3991-3993)AACfs	p.N1331fs	PLEKHH1_uc010tsw.1_Frame_Shift_Del_p.N899fs|PLEKHH1_uc001xjn.1_Frame_Shift_Del_p.N846fs|PLEKHH1_uc010tsx.1_Frame_Shift_Del_p.P273fs|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Frame_Shift_Del_p.N196fs	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1331	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAACTGTGAACCCCCCCACCA	0.478												
CDC42BPB	9578	broad.mit.edu	37	14	103447236	103447237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:103447236_103447237insT	uc001ymi.1	-	8	1245_1246	c.1013_1014insA	c.(1012-1014)AAGfs	p.K338fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	338	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAAACGCATGCTTTTTGAAATC	0.455												
ZNF770	54989	broad.mit.edu	37	15	35273805	35273807	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:35273805_35273807delAAA	uc001ziw.2	-	3	2140_2142	c.1829_1831delTTT	c.(1828-1833)TTTTGC>TGC	p.F610del		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GAATAACTGCAAAAAGGATTGCT	0.424												
MYO5C	55930	broad.mit.edu	37	15	52504010	52504011	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52504010_52504011insCA	uc010bff.2	-	35	4349_4350	c.4212_4213insTG	c.(4210-4215)GTGCGCfs	p.V1404fs	MYO5C_uc010uga.1_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1404_1405						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)		TCTGCGTAGCGCACACACATGA	0.515												
TCF12	6938	broad.mit.edu	37	15	57489983	57489984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:57489983_57489984insA	uc002aec.2	+	8	823_824	c.539_540insA	c.(538-540)GCAfs	p.A180fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.A232fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.A176fs|TCF12_uc002aea.2_Frame_Shift_Ins_p.A180fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Ins_p.A180fs|TCF12_uc002aed.2_Frame_Shift_Ins_p.A180fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	180					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCTTGCAAGCAAAAAAAGTCA	0.347			T	TEC	extraskeletal myxoid chondrosarcoma							
FAM63B	54629	broad.mit.edu	37	15	59146784	59146784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:59146784delA	uc002afj.2	+	9	2043	c.1841delA	c.(1840-1842)GAAfs	p.E614fs	FAM63B_uc002afi.2_Frame_Shift_Del_p.E613fs|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	614										central_nervous_system(1)	1						AAAGAAAAGGAAAAAAATAGC	0.408												
KIF7	374654	broad.mit.edu	37	15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:90190209delC	uc002bof.2	-	7	1717	c.1640delG	c.(1639-1641)GGCfs	p.G547fs	KIF7_uc010upw.1_Frame_Shift_Del_p.G34fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAHD1	81889	broad.mit.edu	37	16	1877706	1877707	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1877706_1877707insG	uc002cnc.1	+	1	482_483	c.476_477insG	c.(475-477)GAGfs	p.E159fs	HAGH_uc002cmz.2_5'Flank|HAGH_uc002cna.2_5'Flank|HAGH_uc010uvp.1_5'Flank|HAGH_uc002cnb.1_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.2_Frame_Shift_Ins_p.E159fs|FAHD1_uc010brz.2_Frame_Shift_Ins_p.E159fs	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing	159						mitochondrion	hydrolase activity|metal ion binding|protein binding				0						CTCAGACAGGAGGGTGAGACAT	0.520												
THOC6	79228	broad.mit.edu	37	16	3075953	3075954	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3075953_3075954delAA	uc002ctb.2	+	3	480_481	c.184_185delAA	c.(184-186)AAAfs	p.K62fs	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Frame_Shift_Del_p.K62fs|THOC6_uc002ctc.2_Frame_Shift_Del_p.K38fs|THOC6_uc002cta.2_Frame_Shift_Del_p.K38fs	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	62					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CTCAGAAGCCAAAGAGGAAAGT	0.569												
MMP25	64386	broad.mit.edu	37	16	3108634	3108634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3108634delC	uc002cth.2	+	9	1618	c.1381delC	c.(1381-1383)CCCfs	p.P461fs	uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	461	Hemopexin-like 3.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						GGAAGGCGCGCCCCCCTCCCC	0.726												
ZC3H7A	29066	broad.mit.edu	37	16	11864672	11864674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:11864672_11864674delAAG	uc002dbk.2	-	9	1271_1273	c.1073_1075delCTT	c.(1072-1077)TCTTTA>TTA	p.S358del	ZC3H7A_uc002dbl.2_In_Frame_Del_p.S358del|ZC3H7A_uc002dbm.1_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	358						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AATGAATTTAAAGAAGAACAAAA	0.360												
SALL1	6299	broad.mit.edu	37	16	51175930	51175930	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:51175930delT	uc010vgs.1	-	2	234	c.203delA	c.(202-204)AATfs	p.N68fs	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	68					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTAATTGATTTTTAGTACA	0.468												
CTCF	10664	broad.mit.edu	37	16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:67645339delA	uc002etl.2	+	3	894	c.604delA	c.(604-606)AAAfs	p.K202fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	202					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			ovary(1)	1		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)		GCCACCAGCCAAAAAAACAAA	0.478												
KIAA1609	57707	broad.mit.edu	37	16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:84514303delC	uc002fib.2	-	7	1196	c.1089delG	c.(1087-1089)GGGfs	p.G363fs	KIAA1609_uc010vod.1_Frame_Shift_Del_p.G336fs|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	363	TLD.						protein binding			ovary(2)	2						AATTGTGCTGCCCCCCCATAC	0.547												
FAM92B	339145	broad.mit.edu	37	16	85135923	85135924	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:85135923_85135924insA	uc010vok.1	-	6	703_704	c.547_548insT	c.(547-549)TGTfs	p.C183fs		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	183										central_nervous_system(1)	1						TACAAAGTCACAAAAAAATTTC	0.505												
SLC16A11	162515	broad.mit.edu	37	17	6945482	6945482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6945482delC	uc002gei.1	-	3	1357	c.1019delG	c.(1018-1020)GGTfs	p.G340fs		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	340	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						CAGCAGGGGACCCCCCCAGCT	0.731												
C17orf68	80169	broad.mit.edu	37	17	8141829	8141829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8141829delG	uc002gkq.3	-	3	375	c.316delC	c.(316-318)CTGfs	p.L106fs	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	106					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						TCTCGGGGCAGGGGGTTCCCA	0.562												
PFAS	5198	broad.mit.edu	37	17	8172400	8172400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:8172400delG	uc002gkr.2	+	28	3976	c.3835delG	c.(3835-3837)GGGfs	p.G1279fs	PFAS_uc010vuv.1_Frame_Shift_Del_p.G855fs|PFAS_uc002gks.2_3'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1279	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGGTCCCCAGGGGGCGTGGC	0.652												
MYH1	4619	broad.mit.edu	37	17	10408152	10408152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:10408152delT	uc002gmo.2	-	22	2760	c.2666delA	c.(2665-2667)AATfs	p.N889fs	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	889	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTGCAAGTCATTTTTTTCTTG	0.413												
FOXN1	8456	broad.mit.edu	37	17	26854365	26854365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:26854365delC	uc010crm.2	+	4	883	c.685delC	c.(685-687)CCCfs	p.P229fs	FOXN1_uc002hbj.2_Frame_Shift_Del_p.P229fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	229					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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	Lung NSC(42;0.00431)					CTCCTCCCAGCCCCCCTTCCA	0.587												
SLFN13	146857	broad.mit.edu	37	17	33768996	33768996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:33768996delC	uc002hjk.1	-	3	1838	c.1508delG	c.(1507-1509)GGCfs	p.G503fs	SLFN13_uc010wch.1_Frame_Shift_Del_p.G503fs|SLFN13_uc002hjl.2_Frame_Shift_Del_p.G503fs|SLFN13_uc010ctt.2_Frame_Shift_Del_p.G185fs|SLFN13_uc002hjm.2_Frame_Shift_Del_p.G172fs	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	503						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCCGGTGTAGCCCCCCATGTT	0.582												
CALCOCO2	10241	broad.mit.edu	37	17	46933463	46933464	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:46933463_46933464delTT	uc002iof.2	+	10	1001_1002	c.922_923delTT	c.(922-924)TTTfs	p.F308fs	CALCOCO2_uc010wlp.1_Frame_Shift_Del_p.F329fs|CALCOCO2_uc010wlq.1_Frame_Shift_Del_p.F236fs|CALCOCO2_uc010wlr.1_Frame_Shift_Del_p.F332fs|CALCOCO2_uc010wls.1_Frame_Shift_Del_p.F266fs	NM_005831	NP_005822	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	308	Potential.				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			ovary(1)	1						GGATGAAAACTTTGACCTGTCA	0.371												
TBX4	9496	broad.mit.edu	37	17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:59560345delC	uc002izi.2	+	8	1151	c.1106delC	c.(1105-1107)TCCfs	p.S369fs	TBX4_uc010ddo.2_Frame_Shift_Del_p.S370fs|TBX4_uc010woy.1_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TATTTCCGTTCCCCCCCTCCC	0.577												
TMC8	147138	broad.mit.edu	37	17	76134254	76134256	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76134254_76134256delCTT	uc002jup.2	+	12	1900_1902	c.1518_1520delCTT	c.(1516-1521)ACCTTC>ACC	p.F507del	TMC8_uc002juq.2_In_Frame_Del_p.F284del|TMC8_uc010wtr.1_3'UTR|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	507	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCTTCCTCACCTTCTACATCAAG	0.621									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
COLEC12	81035	broad.mit.edu	37	18	331763	331763	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:331763delT	uc002kkm.2	-	8	2183	c.1968delA	c.(1966-1968)AAAfs	p.K656fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	656	Extracellular (Potential).|C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTACCATCTGTTTTTTTATCC	0.423												
SYT4	6860	broad.mit.edu	37	18	40857246	40857246	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:40857246delT	uc002law.2	-	1	370	c.1delA	c.(1-3)ATGfs	p.M1fs	SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Frame_Shift_Del_p.M1fs|SYT4_uc010dnh.2_Intron	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	1	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						ATCGGAGCCATTTTTTACTGC	0.493												
PIAS2	9063	broad.mit.edu	37	18	44470593	44470593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:44470593delT	uc002lck.2	-	2	607	c.449delA	c.(448-450)AATfs	p.N150fs	PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Frame_Shift_Del_p.N150fs|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Frame_Shift_Del_p.N150fs|PIAS2_uc002lcn.1_Frame_Shift_Del_p.N154fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	150	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						AAAGGGCAGATTTTTTAACTG	0.423												
ZBTB7C	201501	broad.mit.edu	37	18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279												
CBLN2	147381	broad.mit.edu	37	18	70205457	70205457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:70205457delC	uc002lku.2	-	4	864	c.629delG	c.(628-630)GGCfs	p.G210fs	CBLN2_uc002lkv.2_Frame_Shift_Del_p.G210fs	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	210	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GTATTTCCAGCCCCCCATGAG	0.537												
C19orf28	126321	broad.mit.edu	37	19	3542859	3542859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3542859delG	uc002lxw.2	-	10	1707	c.1537delC	c.(1537-1539)CTGfs	p.L513fs	C19orf28_uc002lxx.2_Intron|C19orf28_uc010dtl.1_5'Flank|C19orf71_uc010xhm.1_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform a	Error:Variant_position_missing_in_Q6NUT3_after_alignment					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)		CTCCAGGCCAGGGGGGCTTCC	0.557												
LPPR2	64748	broad.mit.edu	37	19	11470601	11470601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:11470601delC	uc002mre.1	+	5	697	c.360delC	c.(358-360)AGCfs	p.S120fs	LPPR2_uc002mrf.1_Frame_Shift_Del_p.S95fs|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	120						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GCCGCTTCAGCCCCCCAGTGC	0.627												
SYDE1	85360	broad.mit.edu	37	19	15224500	15224501	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15224500_15224501insC	uc002nah.1	+	8	1965_1966	c.1934_1935insC	c.(1933-1935)AGCfs	p.S645fs	SYDE1_uc002nai.1_Frame_Shift_Ins_p.S578fs|SYDE1_uc002naj.1_Frame_Shift_Ins_p.S302fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	645					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						GGCCCCGAAAGCCCCCCGAGCA	0.688												
OR10H1	26539	broad.mit.edu	37	19	15918460	15918460	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15918460delG	uc002nbq.2	-	1	477	c.388delC	c.(388-390)CTGfs	p.L130fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGTAGCGCAGGGGGTGGCAG	0.642												
MLL4	9757	broad.mit.edu	37	19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36223002delG	uc010eei.2	+	28	5631	c.5631delG	c.(5629-5631)TTGfs	p.L1877fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1877					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)			GGAGGCCCTTGGGGGGTGTCT	0.672												
HNRNPL	3191	broad.mit.edu	37	19	39330869	39330869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:39330869delG	uc010xul.1	-	8	1111	c.1100delC	c.(1099-1101)CCAfs	p.P367fs	HNRNPL_uc010ege.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojj.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Frame_Shift_Del_p.P23fs|HNRNPL_uc002ojl.2_Frame_Shift_Del_p.P23fs|HNRNPL_uc010xum.1_Frame_Shift_Del_p.P234fs|HNRNPL_uc002ojp.1_Frame_Shift_Del_p.P23fs|HNRNPL_uc010xun.1_Frame_Shift_Del_p.H75fs	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				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)			GGGAGGGGGTGGGGGGTGCCC	0.647												
MEGF8	1954	broad.mit.edu	37	19	42847703	42847703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:42847703delG	uc002otl.3	+	9	2223	c.1588delG	c.(1588-1590)GGGfs	p.G530fs	MEGF8_uc002otm.3_Frame_Shift_Del_p.G71fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	530	Extracellular (Potential).|Kelch 6.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTTGGTGGCTGGGGGGTACAG	0.647												
FOSB	2354	broad.mit.edu	37	19	45976070	45976070	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:45976070delC	uc002pbx.3	+	4	1409	c.817delC	c.(817-819)CCCfs	p.P273fs	ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Frame_Shift_Del_p.P198fs|FOSB_uc002pby.3_Frame_Shift_Del_p.P237fs|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Intron|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Frame_Shift_Del_p.P234fs|FOSB_uc010ekd.1_Intron|FOSB_uc010ekg.2_Frame_Shift_Del_p.P130fs|FOSB_uc002pca.3_Frame_Shift_Del_p.P224fs	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	273					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)		CCAAGACGCACCCCCCAACCT	0.602												
PRR12	57479	broad.mit.edu	37	19	50101104	50101104	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50101104delG	uc002poo.3	+	4	3512	c.3512delG	c.(3511-3513)CGGfs	p.R1171fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	350	A.T hook 1.|Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCGGCCACGGGGGAGGCCC	0.761												
AKT1S1	84335	broad.mit.edu	37	19	50373232	50373233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:50373232_50373233insC	uc002pql.3	-	5	1438_1439	c.712_713insG	c.(712-714)GACfs	p.D238fs	PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqh.2_5'Flank|PNKP_uc002pqi.2_5'Flank|PNKP_uc002pqj.2_5'Flank|PNKP_uc010enm.2_5'Flank|PNKP_uc002pqk.2_5'Flank|AKT1S1_uc002pqn.3_Frame_Shift_Ins_p.D238fs|AKT1S1_uc002pqm.3_Frame_Shift_Ins_p.D238fs	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	238					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding				0		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CCGTGGCAGGTCCCCGAAGACC	0.708												
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328												
PTPN4	5775	broad.mit.edu	37	2	120677766	120677766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:120677766delA	uc002tmf.1	+	12	1721	c.950delA	c.(949-951)CAAfs	p.Q317fs	PTPN4_uc010flj.1_Frame_Shift_Del_p.Q30fs	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	317						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTTCCACCTCAAAAGAATTTT	0.343												
KIAA1715	80856	broad.mit.edu	37	2	176857112	176857112	+	Frame_Shift_Del	DEL	T	T	-	rs77192189		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:176857112delT	uc002ukc.1	-	4	297	c.104delA	c.(103-105)AATfs	p.N35fs	KIAA1715_uc010zer.1_Frame_Shift_Del_p.N35fs|KIAA1715_uc010fqw.1_Frame_Shift_Del_p.N101fs|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	35	Potential.|Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TAATCTCTGATTTTTTTCCCT	0.269												
ABCA12	26154	broad.mit.edu	37	2	215884317	215884317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:215884317delT	uc002vew.2	-	12	1711	c.1491delA	c.(1489-1491)AAAfs	p.K497fs	ABCA12_uc002vev.2_Frame_Shift_Del_p.K179fs|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	497					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)		AATCTCTCACTTTTTTAGATA	0.393												
JAG1	182	broad.mit.edu	37	20	10626634	10626634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:10626634delC	uc002wnw.2	-	15	2500	c.1984delG	c.(1984-1986)GCCfs	p.A662fs	JAG1_uc010gcd.1_Frame_Shift_Del_p.A220fs	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	662	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TCACAGTAGGCCCCCTCCCAG	0.502									Alagille_Syndrome			
ESF1	51575	broad.mit.edu	37	20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:13763492delT	uc002woj.2	-	2	403	c.295delA	c.(295-297)ACCfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|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	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTAGTCTGGGTTTTTTTCTTC	0.323												
C20orf26	26074	broad.mit.edu	37	20	20123534	20123534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:20123534delA	uc002wru.2	+	9	969	c.893delA	c.(892-894)CAAfs	p.Q298fs	C20orf26_uc010gcw.1_Frame_Shift_Del_p.Q252fs|C20orf26_uc010zse.1_Frame_Shift_Del_p.Q298fs|C20orf26_uc010zsf.1_Frame_Shift_Del_p.Q298fs	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	298										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CAAGGTTCCCAAAAAATAGTC	0.458												
GDF5	8200	broad.mit.edu	37	20	34025552	34025552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:34025552delG	uc002xck.1	-	1	476	c.157delC	c.(157-159)CTGfs	p.L53fs	GDF5_uc010gfc.1_Frame_Shift_Del_p.L53fs|GDF5_uc010zvc.1_Frame_Shift_Del_p.L53fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	53					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTCCGGGCCAGGGGGGGCCTC	0.657												
ACOT8	10005	broad.mit.edu	37	20	44472965	44472965	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:44472965delG	uc002xqa.1	-	4	664	c.583delC	c.(583-585)CTGfs	p.L195fs	ACOT8_uc010zxe.1_Frame_Shift_Del_p.L195fs|ACOT8_uc002xqc.1_Frame_Shift_Del_p.L142fs|ACOT8_uc010zxf.1_Frame_Shift_Del_p.L75fs	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	195					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AGCTGGCTCAGGGGGGATGGG	0.552												
RNF160	26046	broad.mit.edu	37	21	30341860	30341860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:30341860delA	uc002ymr.2	-	9	1390	c.1377delT	c.(1375-1377)TTTfs	p.F459fs	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	413				F -> Y (in Ref. 5; BAA91976).			ligase activity|zinc ion binding				0						GTAAGCATTCAAAAAAAGCAG	0.358												
ZNRF3	84133	broad.mit.edu	37	22	29445999	29445999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:29445999delG	uc003aeg.2	+	8	1695	c.1530delG	c.(1528-1530)GCGfs	p.A510fs	ZNRF3_uc003aeh.1_Frame_Shift_Del_p.A510fs	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	610	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CCAGTGAGGCGGGGGGCTCGG	0.716												
LGALS2	3957	broad.mit.edu	37	22	37966414	37966415	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37966414_37966415delTG	uc003ata.2	-	4	366_367	c.254_255delCA	c.(253-255)ACAfs	p.T85fs		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	85	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)					CAAAGGTCACTGTGAACTGTGG	0.589												
CAPN7	23473	broad.mit.edu	37	3	15292713	15292713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:15292713delT	uc003bzn.2	+	21	2658	c.2388delT	c.(2386-2388)CCTfs	p.P796fs	uc003bzo.1_5'Flank	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	796	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1						AAGAAGGACCTTTTTTCTTGG	0.353												
EOMES	8320	broad.mit.edu	37	3	27758575	27758575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:27758575delA	uc003cdx.2	-	6	2047	c.2047delT	c.(2047-2049)TACfs	p.Y683fs	EOMES_uc003cdy.3_Frame_Shift_Del_p.Y702fs|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Frame_Shift_Del_p.Y407fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	683	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						GGAGTTGTGTAAAAAGCATAA	0.378												
GORASP1	64689	broad.mit.edu	37	3	39141846	39141847	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:39141846_39141847insG	uc003ciw.1	-	6	812_813	c.714_715insC	c.(712-717)CCCGAGfs	p.P238fs	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Frame_Shift_Ins_p.P143fs|GORASP1_uc003ciz.1_Frame_Shift_Ins_p.P83fs	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	238_239	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAGAGTCCTCGGGGGTGGGTC	0.589												
ZNF620	253639	broad.mit.edu	37	3	40557432	40557433	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40557432_40557433insG	uc003ckk.2	+	5	496_497	c.347_348insG	c.(346-348)GTGfs	p.V116fs	ZNF620_uc003ckl.2_Frame_Shift_Ins_p.V2fs	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGACTGATGGTGGGGGGCCTGC	0.470												
NBEAL2	23218	broad.mit.edu	37	3	47042822	47042823	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47042822_47042823insG	uc003cqp.2	+	29	4717_4718	c.4538_4539insG	c.(4537-4539)GTGfs	p.V1513fs	NBEAL2_uc010hjm.1_Frame_Shift_Ins_p.V890fs|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1513							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGGCCCCCGTGGGGGTCCTGG	0.604												
PTPN23	25930	broad.mit.edu	37	3	47451532	47451532	+	Frame_Shift_Del	DEL	C	C	-	rs77776224	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47451532delC	uc003crf.1	+	20	2340	c.2244delC	c.(2242-2244)CTCfs	p.L748fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.L713fs|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Frame_Shift_Del_p.L618fs	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	748	Pro-rich.				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)		TGCGCAGCCTCCCCCCTGACA	0.701												
ARIH2	10425	broad.mit.edu	37	3	48965138	48965138	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48965138delG	uc003cvb.2	+	3	459	c.147delG	c.(145-147)CAGfs	p.Q49fs	ARIH2_uc003cvc.2_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cvd.1_Frame_Shift_Del_p.Q49fs|ARIH2_uc003cve.1_Frame_Shift_Del_p.Q49fs	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	49	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGGAGCAGCAGGGGGCTGATG	0.463												
IFRD2	7866	broad.mit.edu	37	3	50327898	50327898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:50327898delC	uc011bdp.1	-	3	505	c.376delG	c.(376-378)GATfs	p.D126fs	IFRD2_uc003czb.2_Frame_Shift_Del_p.D228fs	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	126							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCACGACATCCCCCCCTGCA	0.597												
CCDC80	151887	broad.mit.edu	37	3	112357269	112357269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:112357269delT	uc003dzf.2	-	2	1702	c.1484delA	c.(1483-1485)AAGfs	p.K495fs	CCDC80_uc011bhv.1_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzg.2_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.K495fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	495	Lys-rich.									ovary(2)	2						CTGGGCCTTCTTTTTGGGAGG	0.557												
KALRN	8997	broad.mit.edu	37	3	124438053	124438053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:124438053delC	uc003ehg.2	+	60	8824	c.8697delC	c.(8695-8697)TTCfs	p.F2899fs	KALRN_uc003ehk.2_Frame_Shift_Del_p.F1202fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2898	Protein kinase.				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						ATTTCAGCTTCCCCCATGAAT	0.502												
DBR1	51163	broad.mit.edu	37	3	137892418	137892418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:137892418delC	uc003erv.2	-	2	384	c.248delG	c.(247-249)GGAfs	p.G83fs	DBR1_uc003eru.2_Frame_Shift_Del_p.G32fs	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	83						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTCATGGTTTCCCCCAATGAA	0.413												
ZBTB38	253461	broad.mit.edu	37	3	141162875	141162875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:141162875delA	uc003etw.2	+	8	2627	c.1645delA	c.(1645-1647)AAAfs	p.K549fs	ZBTB38_uc010hun.2_Frame_Shift_Del_p.K546fs|ZBTB38_uc010huo.2_Frame_Shift_Del_p.K549fs|ZBTB38_uc003ety.2_Frame_Shift_Del_p.K549fs|ZBTB38_uc010hup.2_Frame_Shift_Del_p.K550fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	549					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTCCATCAGTAAAAAAACAGC	0.383												
TBL1XR1	79718	broad.mit.edu	37	3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	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			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTTTTCTCCATTTTTTGCAGA	0.418												
BCL6	604	broad.mit.edu	37	3	187446270	187446270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:187446270delG	uc003frp.3	-	6	1875	c.1418delC	c.(1417-1419)CCGfs	p.P473fs	BCL6_uc011bsf.1_Frame_Shift_Del_p.P473fs|BCL6_uc010hza.2_Frame_Shift_Del_p.P371fs|BCL6_uc003frq.1_Frame_Shift_Del_p.P473fs	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	473					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGTGCACTTCGGGGGGTGCAT	0.627			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
ZNF718	255403	broad.mit.edu	37	4	154927	154927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:154927delT	uc003fzt.3	+	8	585	c.452delT	c.(451-453)GTTfs	p.V151fs	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGTCAAAGTTTTTCATAAA	0.279												
PPARGC1A	10891	broad.mit.edu	37	4	23830061	23830061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:23830061delT	uc003gqs.2	-	5	839	c.719delA	c.(718-720)AAGfs	p.K240fs	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	240					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)				GTGGGACTTCTTTTTGGAGGT	0.498												
LRRC66	339977	broad.mit.edu	37	4	52861964	52861965	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:52861964_52861965insT	uc003gzi.2	-	4	1236_1237	c.1223_1224insA	c.(1222-1224)AAGfs	p.K408fs		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	408						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGCTCTGGCACTTTTTTTGCCA	0.554												
BMPR1B	658	broad.mit.edu	37	4	96025646	96025646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:96025646delC	uc003htm.3	+	4	345	c.71delC	c.(70-72)ACCfs	p.T24fs	BMPR1B_uc010ilb.2_Frame_Shift_Del_p.T24fs|BMPR1B_uc003htn.3_Frame_Shift_Del_p.T24fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	24	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ACAGCCCCCACCCCCCGTCCA	0.433												
WWC2	80014	broad.mit.edu	37	4	184187099	184187099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:184187099delA	uc010irx.2	+	14	2384	c.2202delA	c.(2200-2202)TCAfs	p.S734fs	WWC2_uc003ivk.3_Frame_Shift_Del_p.S529fs|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Frame_Shift_Del_p.S416fs|WWC2_uc003ivn.3_Frame_Shift_Del_p.S249fs|WWC2_uc010irz.2_Frame_Shift_Del_p.S51fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	734	C2.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTCATACTTCAAAAGTGTAAG	0.338												
C5orf22	55322	broad.mit.edu	37	5	31541435	31541435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:31541435delT	uc003jhj.3	+	6	1045	c.918delT	c.(916-918)GATfs	p.D306fs	C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_Frame_Shift_Del_p.D41fs	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	306										ovary(2)	2						AATTAGAGGATTTAGAAGCCA	0.348												
KIF2A	3796	broad.mit.edu	37	5	61648515	61648515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:61648515delA	uc003jsy.3	+	5	746	c.435delA	c.(433-435)GCAfs	p.A145fs	KIF2A_uc003jsz.3_Frame_Shift_Del_p.A145fs|KIF2A_uc010iwp.2_Intron|KIF2A_uc003jsx.3_Frame_Shift_Del_p.A125fs|KIF2A_uc010iwq.2_5'UTR	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	145	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)		TTCAAGCTGCAAAAAAGGAAT	0.408												
GEMIN5	25929	broad.mit.edu	37	5	154304058	154304058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154304058delT	uc003lvx.3	-	9	1433	c.1350delA	c.(1348-1350)AAAfs	p.K450fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.K449fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	450	WD 8.				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)			ACAATCCCACTTTTCCATCAT	0.313												
PRR7	80758	broad.mit.edu	37	5	176882272	176882272	+	Frame_Shift_Del	DEL	C	C	-	rs17852209		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:176882272delC	uc003mgu.1	+	3	696	c.204delC	c.(202-204)AGTfs	p.S68fs	PRR7_uc003mgv.1_Frame_Shift_Del_p.S68fs|PRR7_uc003mgw.1_Frame_Shift_Del_p.S68fs	NM_030567	NP_085044	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	68	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane					0	all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGGCCGGGAGCCCCCCGGGCC	0.607												
FOXQ1	94234	broad.mit.edu	37	6	1313297	1313297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:1313297delC	uc003mtl.3	+	1	623	c.358delC	c.(358-360)CCCfs	p.P120fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	120	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCGGCCCAAGCCCCCCTACTC	0.433												
OR5V1	81696	broad.mit.edu	37	6	29323493	29323494	+	Frame_Shift_Del	DEL	TG	TG	-	rs140274749	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29323493_29323494delTG	uc011dlo.1	-	1	561_562	c.479_480delCA	c.(478-480)ACAfs	p.T160fs		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						ATGTCAACACTGTATGCACCAC	0.441												
TCF19	6941	broad.mit.edu	37	6	31127312	31127312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31127312delC	uc003nss.2	+	2	590	c.66delC	c.(64-66)CACfs	p.H22fs	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Frame_Shift_Del_p.H22fs	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	22					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACACCTTCCACCCCCCCGCCG	0.687												
CDKN1A	1026	broad.mit.edu	37	6	36652118	36652118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:36652118delG	uc003omm.3	+	2	362	c.240delG	c.(238-240)ACGfs	p.T80fs	CDKN1A_uc011dtq.1_Frame_Shift_Del_p.T114fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.T80fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.T80fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	80					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						ACCTTCCCACGGGGCCCCGGC	0.657									Multiple_Endocrine_Neoplasia_type_1			
TBX18	9096	broad.mit.edu	37	6	85466490	85466490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:85466490delC	uc003pkl.1	-	4	697	c.697delG	c.(697-699)GAGfs	p.E233fs	TBX18_uc010kbq.1_Frame_Shift_Del_p.E75fs	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	233	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ATCCAAGTCTCCCCCGAGGCA	0.507												
MLLT4	4301	broad.mit.edu	37	6	168325729	168325729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:168325729delA	uc003qwd.2	+	22	3175	c.3033delA	c.(3031-3033)CTAfs	p.L1011fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.L996fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.L1012fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.L321fs	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1012	PDZ.				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)		CTGTGACCCTAAAAAAGCAGA	0.423			T	MLL	AL							
RADIL	55698	broad.mit.edu	37	7	4841484	4841484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:4841484delG	uc003snj.1	-	12	2815	c.2642delC	c.(2641-2643)CCTfs	p.P881fs	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Frame_Shift_Del_p.P386fs|RADIL_uc011jwc.1_Frame_Shift_Del_p.P641fs|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Frame_Shift_Del_p.P177fs	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	881	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTGCCTTCCAGGGGGGGCCTG	0.726												
DNAH11	8701	broad.mit.edu	37	7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21631141delA	uc003svc.2	+	14	2644	c.2613delA	c.(2611-2613)ACAfs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ATTTGTTTACAAAAAAATACA	0.468									Kartagener_syndrome			
CREB5	9586	broad.mit.edu	37	7	28848864	28848864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:28848864delG	uc003szq.2	+	9	1477	c.1087delG	c.(1087-1089)GGGfs	p.G363fs	CREB5_uc003szo.2_Frame_Shift_Del_p.G330fs|CREB5_uc003szr.2_Frame_Shift_Del_p.G356fs|CREB5_uc003szs.2_Frame_Shift_Del_p.G224fs	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	363					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CCAGCCCACAGGGGGGCGCCG	0.627												
POR	5447	broad.mit.edu	37	7	75614451	75614451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:75614451delC	uc003udy.2	+	12	1406	c.1324delC	c.(1324-1326)CCCfs	p.P442fs	POR_uc011kgc.1_Frame_Shift_Del_p.P250fs|POR_uc011kgd.1_Frame_Shift_Del_p.P341fs|POR_uc011kge.1_Frame_Shift_Del_p.P180fs|POR_uc003uea.2_5'Flank	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	439	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)	GTCCCTGCGGCCCCCCATCGA	0.682												
FZD1	8321	broad.mit.edu	37	7	90894984	90894984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:90894984delG	uc003ula.2	+	1	1202	c.789delG	c.(787-789)CCGfs	p.P263fs		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	263	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)			GCGGCTTCCCGGGGGGCGCCG	0.697												
RBM28	55131	broad.mit.edu	37	7	127979377	127979378	+	Splice_Site	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378insA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CTGAGTTTTCTAAAAAATAAGA	0.401												
MGAM	8972	broad.mit.edu	37	7	141800654	141800654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:141800654delG	uc003vwy.2	+	45	5293	c.5239delG	c.(5239-5241)GGGfs	p.G1747fs		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1747	Glucoamylase.|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)	AGGAACTGCTGGGGGCTGGCT	0.498												
NOS3	4846	broad.mit.edu	37	7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:150707211delC	uc003wif.2	+	21	2817	c.2521delC	c.(2521-2523)CCCfs	p.P841fs	NOS3_uc011kuy.1_Frame_Shift_Del_p.P635fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	841	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGTGGCCCTCCCCCCGGCTG	0.652												
SMC2	10592	broad.mit.edu	37	9	106862422	106862422	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:106862422delA	uc004bbv.2	+	6	817	c.529delA	c.(529-531)AAAfs	p.K177fs	SMC2_uc004bbu.1_Frame_Shift_Del_p.K177fs|SMC2_uc004bbw.2_Frame_Shift_Del_p.K177fs|SMC2_uc011lvl.1_Frame_Shift_Del_p.K177fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.K32fs|SMC2_uc010mth.1_Frame_Shift_Del_p.K127fs|SMC2_uc004bbx.2_Frame_Shift_Del_p.K177fs	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	177	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						GTATGAATACAAAAAAATAGC	0.313												
POLE3	54107	broad.mit.edu	37	9	116171195	116171195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:116171195delT	uc011lxg.1	-	4	722	c.340delA	c.(340-342)ACAfs	p.T114fs	POLE3_uc004bhn.2_Frame_Shift_Del_p.T114fs|C9orf43_uc004bho.3_5'Flank|C9orf43_uc004bhp.2_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	DNA-directed DNA polymerase epsilon 3	114	Potential.				DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0						tccgagtctgtttttttgtct	0.199												
DENND1A	57706	broad.mit.edu	37	9	126319868	126319868	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:126319868delT	uc004bnz.1	-	13	1207	c.974delA	c.(973-975)AACfs	p.N325fs	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Frame_Shift_Del_p.N142fs|DENND1A_uc011lzm.1_Frame_Shift_Del_p.N293fs|DENND1A_uc004boa.1_Frame_Shift_Del_p.N325fs|DENND1A_uc004bob.1_Frame_Shift_Del_p.N295fs|DENND1A_uc004boc.2_Frame_Shift_Del_p.N293fs	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	325	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TTTCAGAGCGTTTCGGTAGCT	0.552												
BRD3	8019	broad.mit.edu	37	9	136905314	136905316	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:136905314_136905316delCTT	uc004cew.2	-	9	1671_1673	c.1483_1485delAAG	c.(1483-1485)AAGdel	p.K495del	BRD3_uc004cex.2_In_Frame_Del_p.K495del	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	495	Lys-rich.|Potential.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		tctccttctccttcttctccttc	0.340			T	NUT|C15orf55	lethal midline carcinoma of young people							
DPP7	29952	broad.mit.edu	37	9	140008718	140008718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140008718delC	uc004clh.2	-	3	328	c.298delG	c.(298-300)GCTfs	p.A100fs	DPP7_uc011meq.1_Frame_Shift_Del_p.G123fs	NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	dipeptidyl peptidase 7 preproprotein	100						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		ACCAGTAGAGCCCCCCGCTCG	0.458												
FAM47C	442444	broad.mit.edu	37	X	37027077	37027077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37027077delC	uc004ddl.1	+	1	608	c.594delC	c.(592-594)CTCfs	p.L198fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	198										ovary(3)	3						TGTCCTGTCTCCCCCCGGAGC	0.642												
FGD1	2245	broad.mit.edu	37	X	54472572	54472572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:54472572delG	uc004dtg.2	-	18	3590	c.2856delC	c.(2854-2856)CCCfs	p.P952fs		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	952					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGGGGGATTCGGGGGGTTCAG	0.642												
MTMR8	55613	broad.mit.edu	37	X	63551494	63551494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:63551494delA	uc004dvs.2	-	11	1363	c.1295delT	c.(1294-1296)TTCfs	p.F432fs	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Frame_Shift_Del_p.F432fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	432	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						CTGGCAGGAGAAAACATGGTC	0.438												
FOXO4	4303	broad.mit.edu	37	X	70316610	70316610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70316610delG	uc004dys.1	+	1	585	c.232delG	c.(232-234)GGGfs	p.G78fs	FOXO4_uc010nkz.2_Frame_Shift_Del_p.G78fs|FOXO4_uc004dyt.1_Intron	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	78					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					AGAGCCGGCCGGGGGCCCCCA	0.662												
CXCR3	2833	broad.mit.edu	37	X	70836494	70836495	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70836494_70836495insT	uc004eaf.2	-	2	895_896	c.827_828insA	c.(826-828)CTGfs	p.L276fs	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Frame_Shift_Ins_p.L323fs	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	276	Helical; Name=6; (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					GGATGTCCACCAGCACCACCAG	0.663												
BRWD3	254065	broad.mit.edu	37	X	79978170	79978171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:79978170_79978171insA	uc004edt.2	-	17	2029_2030	c.1766_1767insT	c.(1765-1767)TTGfs	p.L589fs	BRWD3_uc004edo.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edp.2_Frame_Shift_Ins_p.L418fs|BRWD3_uc004edq.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc010nmj.1_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edr.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eds.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edu.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004edv.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edw.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edx.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edy.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edz.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eea.2_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eeb.2_Frame_Shift_Ins_p.L185fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	589										ovary(4)	4						CAACATCCACCAAAAATGGAGG	0.436												
FAM133A	286499	broad.mit.edu	37	X	92964569	92964569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:92964569delA	uc004efr.1	+	4	464	c.151delA	c.(151-153)AAAfs	p.K51fs		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	51	Lys-rich.										0						ATTAGAAAATAAAAAAACAGG	0.348												
GPRASP2	114928	broad.mit.edu	37	X	101971768	101971768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:101971768delT	uc004ejk.2	+	4	3305	c.1971delT	c.(1969-1971)AGTfs	p.S657fs	GPRASP2_uc004ejl.2_Frame_Shift_Del_p.S657fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.S657fs|GPRASP2_uc011mrp.1_5'UTR	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	657						cytoplasm	protein binding			ovary(1)	1						TTAGGACAAGTTTTTTGGAAA	0.378												
EIF4G3	8672	broad.mit.edu	37	1	21226332	21226333	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:21226331_21226332C>CT	uc001bec.3	-	10	1945_1946	c.1689_1690G>AG	c.(1687-1692)aaagtgfs	p.K563fs	EIF4G3_uc010odi.2_Frame_Shift_Ins_p.K167fs|EIF4G3_uc010odj.2_Frame_Shift_Ins_p.K562fs|EIF4G3_uc009vpz.3_Frame_Shift_Ins_p.K283fs|EIF4G3_uc001bef.3_Frame_Shift_Ins_p.K562fs|EIF4G3_uc001bee.3_Frame_Shift_Ins_p.K569fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	563					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGGT	0.436												
ARID1A	8289	broad.mit.edu	37	1	27101268	27101268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27101267_27101267GC>G	uc001bmv.1	+	17	4922	c.4549_4549GC>G	c.(4549-4551)gccfs	p.A1517fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A1516fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A1134fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.A363fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1517					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)		CACGGGCTCTGCCCCCCAGGG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGTGGGGTAACCCCCCCAGT	0.607												
COL8A2	1296	broad.mit.edu	37	1	36564203	36564204	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36564202_36564203A>AG	uc001bzv.2	-	1	1086_1087	c.1079_1080T>CT	c.(1078-1080)cctfs	p.P360fs	COL8A2_uc001bzw.2_Frame_Shift_Ins_p.P295fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	360	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGAAGTCCAGGGGGACCCCC	0.708												
MAP7D1	55700	broad.mit.edu	37	1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:36636763_36636764G>GCC	uc001bzz.3	+	1	454_455	c.238_239G>GCC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653												
GPBP1L1	60313	broad.mit.edu	37	1	46120890	46120891	+	Frame_Shift_Ins	INS	-	-	A	rs146948905		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:46120889_46120890T>TA	uc001coq.3	-	4	1523_1524	c.162_163A>TA	c.(160-165)tttaacfs	p.F54fs		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GGACCATTGTTAAAAAAACCAT	0.475												
SLC5A9	200010	broad.mit.edu	37	1	48698101	48698101	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:48698100_48698100TG>T	uc001crn.2	+	8	1086	c.1034_1034TG>T	c.(1033-1035)ctgfs	p.L345fs	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Frame_Shift_Del_p.L320fs|SLC5A9_uc010omt.1_Frame_Shift_Del_p.L334fs|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	320						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGCTCCGTGCTGGGGGGCTAC	0.587												
PRPF38A	84950	broad.mit.edu	37	1	52874256	52874256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:52874255_52874255TG>T	uc001ctv.4	+	2	508	c.305_305TG>T	c.(304-306)ctgfs	p.L102fs	PRPF38A_uc001ctw.4_Intron	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	102					RNA splicing|mRNA processing	spliceosomal complex		p.L102Q(2)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GTCCGCATGCTGGGGGCACTT	0.448												
C1orf173	127254	broad.mit.edu	37	1	75078436	75078437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:75078435_75078436G>GA	uc001dgg.3	-	8	1277_1278	c.1058_1059C>TC	c.(1057-1059)ttcfs	p.F353fs	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Frame_Shift_Ins_p.F147fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	353										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCATTCAGGAAAAAGGTGAG	0.426												
FUBP1	8880	broad.mit.edu	37	1	78433854	78433854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:78433853_78433853AT>A	uc001dii.3	-	2	335	c.246_246AT>T	c.(244-246)aatfs	p.N82fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.N103fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	82					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTTACAGTCATTTTGAGGAG	0.323			"""F, N"""		oligodendroglioma							
TTLL7	79739	broad.mit.edu	37	1	84335733	84335735	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:84335732_84335734CAAG>C	uc001djc.3	-	20	2971_2973	c.2575_2577CTTG>G	c.(2575-2577)ttg>G	p.L859del	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Intron	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	859					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGGTGTTCTCAAGAAGAATTGG	0.369												
MTF2	22823	broad.mit.edu	37	1	93580632	93580633	+	In_Frame_Ins	INS	-	-	CAA			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:93580631_93580632G>GCAA	uc009wdj.3	+	4	761_762	c.469_470G>GCAA	c.(469-471)gca>GCAAa	p.A157A	MTF2_uc010oth.2_In_Frame_Ins_p.A55A|MTF2_uc009wdk.3_In_Frame_Ins_p.A157A|MTF2_uc010oti.2_In_Frame_Ins_p.A55A|MTF2_uc001dpi.4_5'UTR|MTF2_uc001dpl.4_In_Frame_Ins_p.A55A	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	157						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTGTGTTTTTGCAACAACAACA	0.342												
PIAS3	10401	broad.mit.edu	37	1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTG	0.627												
OTUD7B	56957	broad.mit.edu	37	1	149916627	149916627	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:149916626_149916626GT>G	uc001etn.3	-	11	2018	c.1662_1662AC>C	c.(1660-1662)aacfs	p.N554fs		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	554					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTTCAGTGAGTTTTTCTTCT	0.592												
RPRD2	23248	broad.mit.edu	37	1	150445612	150445612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:150445611_150445611GC>G	uc009wlr.3	+	10	4388	c.4187_4187GC>G	c.(4186-4188)ggcfs	p.G1396fs	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Frame_Shift_Del_p.G1370fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1396	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTG	0.617												
RFX5	5993	broad.mit.edu	37	1	151314789	151314790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:151314788_151314789C>CT	uc001exv.1	-	10	1938_1939	c.1724_1725G>AG	c.(1723-1725)aagfs	p.K575fs	RFX5_uc001exw.1_Frame_Shift_Ins_p.K575fs|RFX5_uc010pcx.1_Frame_Shift_Ins_p.K535fs	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	575						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GAAAAGCCTCCTTTTGGCTTCT	0.490												
LMNA	4000	broad.mit.edu	37	1	156106016	156106017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156106015_156106016T>TC	uc001fni.2	+	6	1417_1418	c.1168_1169T>TC	c.(1168-1170)tccfs	p.S390fs	LMNA_uc001fnf.1_Frame_Shift_Ins_p.S390fs|LMNA_uc001fng.2_Frame_Shift_Ins_p.S390fs|LMNA_uc001fnh.2_Frame_Shift_Ins_p.S390fs|LMNA_uc009wro.1_Frame_Shift_Ins_p.S390fs|LMNA_uc010pgz.1_Frame_Shift_Ins_p.S278fs|LMNA_uc001fnj.2_Frame_Shift_Ins_p.S309fs|LMNA_uc001fnk.2_Frame_Shift_Ins_p.S291fs|LMNA_uc009wrp.3_Frame_Shift_Ins_p.C117fs|LMNA_uc010pha.1_Frame_Shift_Ins_p.S46fs	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	390	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTACGCCTGTCCCCCAGCCCT	0.663									Werner syndrome;Hutchinson-Gilford Progeria Syndrome			
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:156694022_156694023A>AG	uc001fps.1	-	1	1126_1127	c.865_866T>CT	c.(865-867)ctcfs	p.L289fs	ISG20L2_uc001fpt.1_Frame_Shift_Ins_p.L289fs	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559												
OR6N2	81442	broad.mit.edu	37	1	158746768	158746769	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:158746767_158746768C>CT	uc010pir.2	-	0	658_659	c.658_659G>AG	c.(658-660)aggfs	p.R220fs		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCCAATGATCCTTGCATAAGAA	0.421												
GPR161	23432	broad.mit.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:168054868_168054868GC>G	uc010pln.2	-	6	2085	c.1551_1551GC>C	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Del_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Del_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Del_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Del_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Del_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Del_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGA	0.582												
GLT25D2	23127	broad.mit.edu	37	1	183938468	183938468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:183938467_183938467TG>T	uc001gqr.3	-	4	1140	c.768_768CA>A	c.(766-768)ccafs	p.P256fs	GLT25D2_uc010poj.1_Frame_Shift_Del_p.P256fs|GLT25D2_uc001gqs.3_Frame_Shift_Del_p.P136fs	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	256					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						AGTCCTGGTGTGGGGGGTAGA	0.532												
PLA2G4A	5321	broad.mit.edu	37	1	186908213	186908214	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:186908212_186908213G>GA	uc001gsc.3	+	8	973_974	c.768_769G>GA	c.(766-771)atgaaafs	p.M256fs	PLA2G4A_uc010pos.2_Frame_Shift_Ins_p.M196fs	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	256	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AAGAACTAATGAAAAATGTTAG	0.371												
AVPR1B	553	broad.mit.edu	37	1	206224854	206224854	+	Frame_Shift_Del	DEL	C	C	-	rs148831426		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:206224853_206224853AC>A	uc001hds.2	+	0	571	c.413_413AC>A	c.(412-414)cacfs	p.H138fs		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	138					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTCTGTCACCCCCTGCGC	0.627												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
TP53BP2	7159	broad.mit.edu	37	1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-	rs146703239		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378												
ENAH	55740	broad.mit.edu	37	1	225742788	225742788	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:225742787_225742787TA>T	uc001hpc.1	-	3	625	c.172_splice	c.e3-1	p.V58_splice	ENAH_uc021pju.1_Splice_Site_p.V45_splice|ENAH_uc001hpd.1_Splice_Site_p.V58_splice	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	58	WH1.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TATCACGACCTAAAAAATAAT	0.363												
WNT9A	7483	broad.mit.edu	37	1	228111954	228111955	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228111953_228111954G>GC	uc001hri.2	-	2	588_589	c.500_501C>GC	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(2)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629												
OBSCN	84033	broad.mit.edu	37	1	228434288	228434289	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:228434287_228434288A>AG	uc009xez.1	+	12	3860_3861	c.3816_3817A>AG	c.(3814-3819)gcagggfs	p.A1272fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A1272fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1272	Ig-like 13.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.E1271E(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGACTGAGGCAGGGGCCAGTGC	0.584												
WDR64	128025	broad.mit.edu	37	1	241964455	241964455	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr1:241964454_241964454GA>G	uc001hzg.2	+	26	3390	c.3183_3183GA>G	c.(3181-3183)ttgfs	p.L1061fs	WDR64_uc021pli.1_Frame_Shift_Del_p.L614fs	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1061								p.N617fs*>19(1)|p.N1064fs*>19(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGAAGTTTGAAAAAAAATT	0.378												
EHBP1	23301	broad.mit.edu	37	2	63176136	63176137	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:63176135_63176136C>CA	uc002sby.3	+	13	2741_2742	c.2259_2260C>CA	c.(2257-2262)atcaaafs	p.I753fs	EHBP1_uc010fcp.3_Frame_Shift_Ins_p.I718fs|EHBP1_uc002sbz.3_Frame_Shift_Ins_p.I718fs|EHBP1_uc002scb.3_Frame_Shift_Ins_p.I718fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	753						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AATCTCCTATCAAAAAAACAAG	0.371												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HK2	3099	broad.mit.edu	37	2	75107417	75107417	+	Frame_Shift_Del	DEL	G	G	-	rs143068594		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:75107416_75107416CG>C	uc002snd.3	+	9	3216	c.1290_1290CG>C	c.(1288-1290)accfs	p.T430fs		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	430	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TACATAAGACCGTGCGGCGGC	0.597												
EIF5B	9669	broad.mit.edu	37	2	99976805	99976805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:99976804_99976804GA>G	uc002tab.3	+	1	325	c.141_141GA>G	c.(139-141)gagfs	p.E47fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	47	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAAAAAAGAGAAAAAAAAGC	0.343												
SLC9A2	6549	broad.mit.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAAC	0.527												
RANBP2	5903	broad.mit.edu	37	2	109384718	109384718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:109384717_109384717TA>T	uc002tem.4	+	19	7848	c.7722_7722TA>T	c.(7720-7722)cctfs	p.P2574fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2574					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGTGGAACCTAAAAAATGTG	0.368												
IWS1	55677	broad.mit.edu	37	2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:128238675_128238675CT>C	uc002ton.2	-	13	2708	c.2405_2405AG>G	c.(2404-2406)agcfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	802					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGCAGATCTGCTTTTTTTCCT	0.423												
RIF1	55183	broad.mit.edu	37	2	152322592	152322592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:152322591_152322591TA>T	uc002txm.3	+	29	6718	c.6557_6557TA>T	c.(6556-6558)ctafs	p.L2186fs	RIF1_uc002txn.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txl.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txo.3_Frame_Shift_Del_p.L2186fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2186	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAGAGGACTAAAAAGATCC	0.433												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
COBLL1	22837	broad.mit.edu	37	2	165551602	165551602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165551601_165551601CT>C	uc002ucp.3	-	11	2637	c.2415_2415AG>G	c.(2413-2415)aagfs	p.K805fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.K767fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.K872fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.K813fs|COBLL1_uc002ucn.3_Frame_Shift_Del_p.K233fs|COBLL1_uc002uco.3_Frame_Shift_Del_p.K536fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	843										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CATGAGTGTGCTTTTTCCCTA	0.408												
COBLL1	22837	broad.mit.edu	37	2	165578962	165578962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:165578961_165578961GA>G	uc002ucp.3	-	4	955	c.733_733TC>C	c.(733-735)caafs	p.Q245fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.Q245fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.Q311fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.Q291fs|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Frame_Shift_Del_p.Q14fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	283										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTACTGCGTTGAAAAAAACTG	0.269												
NOSTRIN	115677	broad.mit.edu	37	2	169717340	169717340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:169717339_169717339CT>C	uc002ueg.3	+	13	1480	c.1214_1214CT>C	c.(1213-1215)cctfs	p.P405fs	NOSTRIN_uc002uef.3_Frame_Shift_Del_p.P462fs|NOSTRIN_uc002ueh.3_Frame_Shift_Del_p.P327fs|NOSTRIN_uc010fpu.3_Frame_Shift_Del_p.P377fs|NOSTRIN_uc002uek.3_Frame_Shift_Del_p.P89fs	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	405					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ATATCTCGGCCTTTTTTAATG	0.368												
RCAN2	10231	broad.mit.edu	37	2	174081950	174081950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:174081949_174081949CA>C	uc002uhz.3	+	10	1158	c.958_958CA>C	c.(958-960)caafs	p.Q320fs	RCAN2_uc002uhy.3_Frame_Shift_Del_p.Q320fs|RCAN2_uc010zei.2_Frame_Shift_Del_p.Q219fs|MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GATGTGGGAGCAAAAGCTGAC	0.522												
ITGAV	3685	broad.mit.edu	37	2	187521085	187521086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:187521084_187521085A>AG	uc002upq.3	+	16	1951_1952	c.1675_1676A>AG	c.(1675-1677)aggfs	p.R559fs	ITGAV_uc010frs.3_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Ins_p.R513fs	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	559					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431												
CRYGB	1419	broad.mit.edu	37	2	209010499	209010499	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), 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)		TGGCATCTGCACCCCCCCAGT	0.527												
IRS1	3667	broad.mit.edu	37	2	227661217	227661217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:227661216_227661216AG>A	uc021vxn.1	-	0	2239	c.2239_2239CT>T	c.(2239-2241)tccfs	p.S747fs	IRS1_uc002voh.4_Frame_Shift_Del_p.S747fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	747					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	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		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)		TAGCAGTCGGAGGGGCTGCTG	0.602												
SH3BP4	23677	broad.mit.edu	37	2	235949994	235949994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:235949993_235949993CT>C	uc002vvp.3	+	3	973	c.580_580CT>C	c.(580-582)cttfs	p.L194fs	SH3BP4_uc010fym.3_Frame_Shift_Del_p.L194fs|SH3BP4_uc002vvq.3_Frame_Shift_Del_p.L194fs	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	194					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.L193L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGATTTGCTCCTTTTTGACGC	0.512												
AGAP1	116987	broad.mit.edu	37	2	236877177	236877177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr2:236877176_236877176GC>G	uc002vvs.3	+	12	2152	c.1554_1554GC>G	c.(1552-1554)ccgfs	p.P518fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.P465fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	518	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTCGACCCGCCCCCCTCCC	0.577												
GORASP1	64689	broad.mit.edu	37	3	39141847	39141848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:39141846_39141847C>CG	uc003ciw.1	-	5	812_813	c.714_715G>CG	c.(712-717)cccgagfs	p.P238fs	GORASP1_uc003civ.1_Non-coding_Transcript|GORASP1_uc003cix.1_Non-coding_Transcript|GORASP1_uc003ciy.1_Non-coding_Transcript|GORASP1_uc011ayw.1_Frame_Shift_Ins_p.P143fs|GORASP1_uc003ciz.1_Frame_Shift_Ins_p.P83fs	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Homo sapiens golgi reassembly stacking protein 1, 65kDa (GORASP1), mRNA.	238	Pro-rich.				mitotic prophase|protein transport	Golgi apparatus|cytosol|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGAGAGTCCTCGGGGGTGGGTC	0.589												
ENTPD3	956	broad.mit.edu	37	3	40468948	40468951	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40468947_40468950GAAGA>G	uc003ckd.4	+	10	1630_1633	c.1538_1541GAAGA>G	c.(1537-1542)agaagafs	p.R513fs	ENTPD3_uc010hhy.3_Frame_Shift_Del_p.R513fs|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	513						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TCAGCAACCAGAAGAAAGAGGCAC	0.539												
ZNF620	253639	broad.mit.edu	37	3	40557433	40557434	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:40557432_40557433T>TG	uc003ckk.3	+	4	496_497	c.347_348T>TG	c.(346-348)gtgfs	p.V116fs	ZNF620_uc003ckl.3_Frame_Shift_Ins_p.V2fs	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGACTGATGGTGGGGGGCCTGC	0.470												
PTH1R	5745	broad.mit.edu	37	3	46944891	46944891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:46944890_46944890GC>G	uc003cqm.3	+	15	1729	c.1526_1526GC>G	c.(1525-1527)ggcfs	p.G509fs	PTH1R_uc021wxg.1_Frame_Shift_Del_p.G509fs	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	509						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						ACCAATGTCGGCCCCCGTGTG	0.667												
NBEAL2	23218	broad.mit.edu	37	3	47042823	47042824	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47042822_47042823T>TG	uc003cqp.3	+	28	4717_4718	c.4538_4539T>TG	c.(4537-4539)gtgfs	p.V1513fs	NBEAL2_uc010hjm.2_Frame_Shift_Ins_p.V890fs|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1513							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGGCCCCCGTGGGGGTCCTGG	0.604												
PTPN23	25930	broad.mit.edu	37	3	47454113	47454115	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:47454112_47454114CAGA>C	uc003crf.1	+	23	4522_4524	c.4426_4428CAGA>C	c.(4426-4428)cag>C	p.Q1476del	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_In_Frame_Del_p.Q1346del|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1476					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCATCAGCCAGAAGGTGAGGA	0.586												
ZNF589	51385	broad.mit.edu	37	3	48309594	48309594	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:48309593_48309593AG>A	uc003csl.4	+	3	478	c.412_412AG>A	c.(412-414)aggfs	p.R138fs	ZNF589_uc010hjt.2_Frame_Shift_Del_p.R135fs|ZNF589_uc003csn.3_Non-coding_Transcript|ZNF589_uc011bbg.2_Frame_Shift_Del_p.R137fs|ZNF589_uc003csm.3_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	Homo sapiens zinc finger protein 589 (ZNF589), mRNA.	138					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAAAATCACAGGGGGGCTGA	0.493												
PTPRG	5793	broad.mit.edu	37	3	62248542	62248542	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:62248541_62248541CA>C	uc003dlb.3	+	16	3347	c.2628_2628CA>C	c.(2626-2628)cacfs	p.H876fs	PTPRG_uc003dlc.3_Frame_Shift_Del_p.H847fs|PTPRG_uc011bfi.2_Frame_Shift_Del_p.H122fs|LOC100506994_uc003dld.4_Non-coding_Transcript|LOC100506994_uc010hnp.3_Non-coding_Transcript|LOC100506994_uc003dle.4_Non-coding_Transcript|LOC100506994_uc010hno.3_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	876	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAAGCACAAAAACAGAT	0.378												
MAGI1	9223	broad.mit.edu	37	3	65361571	65361572	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:65361570_65361571T>TC	uc003dmn.3	-	17	3571_3572	c.3045_3046A>GA	c.(3043-3048)gggagcfs	p.G1015fs	MAGI1_uc003dmm.3_Frame_Shift_Ins_p.G1043fs|MAGI1_uc003dmo.3_Frame_Shift_Ins_p.G1044fs|MAGI1_uc003dmp.3_Intron	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1044	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		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)		TCAGCAGGGCTCCCCTCAATAA	0.436												
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
PVRL3	25945	broad.mit.edu	37	3	110852822	110852822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:110852821_110852821TA>T	uc003dxt.2	+	5	1668	c.1409_1409TA>T	c.(1408-1410)gtafs	p.V470fs	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	470					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCAGACAGTGTAAAAAAAGAA	0.338												
SEMA5B	54437	broad.mit.edu	37	3	122631702	122631702	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:122631701_122631701TG>T	uc003efz.1	-	17	3018	c.2714_2714CA>A	c.(2713-2715)cagfs	p.Q905fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.Q847fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Frame_Shift_Del_p.Q905fs|SEMA5B_uc003efy.1_5'Flank	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.	905	TSP type-1 3.				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)		TGGGCAAGCCTGGGGGTTGCA	0.677												
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
CCDC14	64770	broad.mit.edu	37	3	123665727	123665727	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:123665726_123665726AT>A	uc011bjx.2	-	7	1360	c.1269_1269AT>T	c.(1267-1269)aatfs	p.N423fs	CCDC14_uc003egv.4_Intron|CCDC14_uc003egx.4_Frame_Shift_Del_p.N223fs|CCDC14_uc010hrt.3_Frame_Shift_Del_p.N382fs|CCDC14_uc003egy.4_Frame_Shift_Del_p.N223fs|CCDC14_uc003egz.2_Frame_Shift_Del_p.N223fs	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	423						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TCTTGTTCACATTTTTTGCCT	0.388												
ZNF148	7707	broad.mit.edu	37	3	125032219	125032219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:125032218_125032218AT>A	uc003ehx.4	-	3	753	c.267_267AT>T	c.(265-267)aatfs	p.N89fs	ZNF148_uc003ehz.4_Frame_Shift_Del_p.N89fs|ZNF148_uc010hsa.3_Frame_Shift_Del_p.N89fs|ZNF148_uc003eia.4_Frame_Shift_Del_p.N89fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	89					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GCTCTTCATCATTTTTCACTG	0.368												
PIK3CB	5291	broad.mit.edu	37	3	138413710	138413710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:138413709_138413709CG>C	uc011bmq.2	-	11	1811	c.1811_1811CG>G	c.(1810-1812)cggfs	p.R604fs	PIK3CB_uc011bmn.2_Frame_Shift_Del_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Del_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Del_p.R191fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	604	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAG	0.468												
ACTL6A	86	broad.mit.edu	37	3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ATTTCACCTCTAAAAAATGGG	0.398												
USP13	8975	broad.mit.edu	37	3	179408081	179408081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:179408080_179408080AT>A	uc003fkh.3	+	2	427	c.346_346AT>A	c.(346-348)attfs	p.I116fs		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	116					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GAATTCCAAGATTTTTTTAGG	0.353												
TMEM41A	90407	broad.mit.edu	37	3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-	rs150885877	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443												
ATP13A3	79572	broad.mit.edu	37	3	194147850	194147851	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:194147849_194147850C>CA	uc003fty.4	-	27	3481_3482	c.3079_3080G>TG	c.(3079-3081)tggfs	p.W1027fs	ATP13A3_uc003ftx.4_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1027					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTGTTTGACCCAAAAAAAACCC	0.381												
TNK2	10188	broad.mit.edu	37	3	195594633	195594633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr3:195594632_195594632TG>T	uc003fvu.1	-	11	3035	c.2492_2492CA>A	c.(2491-2493)cagfs	p.Q831fs	TNK2_uc003fvq.1_Frame_Shift_Del_p.Q238fs|TNK2_uc003fvr.1_Frame_Shift_Del_p.Q356fs|TNK2_uc003fvs.1_Frame_Shift_Del_p.Q863fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.Q909fs|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	831	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTGGATCACCTGGGGGGTGGC	0.667												
ACOX3	8310	broad.mit.edu	37	4	8412063	8412064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:8412062_8412063A>AG	uc010idk.3	-	5	708_709	c.563_564T>CT	c.(562-564)cctfs	p.P188fs	ACOX3_uc003glc.4_Frame_Shift_Ins_p.P188fs|ACOX3_uc003gld.4_Frame_Shift_Ins_p.P188fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	188					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTTCGAAATCAGGGGAATGTAT	0.455												
ZNF518B	85460	broad.mit.edu	37	4	10446553	10446554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:10446552_10446553A>AT	uc003gmn.3	-	2	1887_1888	c.1400_1401T>AT	c.(1399-1401)aatfs	p.N467fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.N467fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GATACAAATTATTTTTTTTCTG	0.337												
ZCCHC4	29063	broad.mit.edu	37	4	25334886	25334887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:25334885_25334886G>GT	uc003grl.4	+	3	446_447	c.410_411G>GT	c.(409-411)tggfs	p.W137fs	ZCCHC4_uc003grm.1_Non-coding_Transcript	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	137							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CCAGATGACTGGGGGCAACATA	0.411												
ARAP2	116984	broad.mit.edu	37	4	36230898	36230898	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:36230897_36230897AT>A	uc003gsq.2	-	1	550	c.212_212AT>T	c.(211-213)atgfs	p.M71fs	ARAP2_uc003gsr.1_Frame_Shift_Del_p.M71fs	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	71					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AATATCTTGCATTTTTGACAA	0.358												
KLF3	51274	broad.mit.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
OCIAD2	132299	broad.mit.edu	37	4	48894833	48894833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:48894832_48894832CA>C	uc003gyt.3	-	5	543	c.340_340TG>G	c.(340-342)gaafs	p.E114fs	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	114	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AGCTGATCTTCAAAAAAATGG	0.393												
LRRC66	339977	broad.mit.edu	37	4	52861965	52861966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:52861964_52861965C>CT	uc003gzi.3	-	3	1230_1231	c.1223_1224G>AG	c.(1222-1224)aagfs	p.K408fs		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	408						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGCTCTGGCACTTTTTTTGCCA	0.554												
WDFY3	23001	broad.mit.edu	37	4	85617218	85617218	+	Frame_Shift_Del	DEL	A	A	-	rs35329336		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85617217_85617217TA>T	uc003hpd.3	-	57	9215	c.8807_8807TA>A	c.(8806-8808)tatfs	p.Y2936fs	WDFY3_uc003hpe.1_Frame_Shift_Del_p.Y547fs	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2936	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGACCCTCATAAAAAAGATG	0.423												
WDFY3	23001	broad.mit.edu	37	4	85676453	85676453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:85676452_85676452TA>T	uc003hpd.3	-	33	5934	c.5526_5526TA>A	c.(5524-5526)ttafs	p.L1842fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1842						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCCAATAATAAAAAAACAG	0.423												
ATOH1	474	broad.mit.edu	37	4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:94750381_94750381CG>C	uc003hta.1	+	0	304	c.304_304CG>C	c.(304-306)cggfs	p.R102fs		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	102					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGTGGACGGCCGGGGGGAGCT	0.687												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388												
SYNPO2	171024	broad.mit.edu	37	4	119978598	119978598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:119978597_119978597AC>A	uc010inb.3	+	4	3490	c.3294_3294AC>A	c.(3292-3294)ccafs	p.P1098fs	SYNPO2_uc011cgh.2_Frame_Shift_Del_p.H100fs|SYNPO2_uc010inc.3_Frame_Shift_Del_p.P968fs	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	756						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATCAGTCCCACCCCCCATTT	0.408												
FGF2	2247	broad.mit.edu	37	4	123748461	123748461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:123748460_123748460AC>A	uc003iev.1	+	0	598	c.530_530AC>A	c.(529-531)cacfs	p.H177fs		NM_002006	NP_001997	P09038	FGF2_HUMAN	Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA.	177					Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity	p.H177N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTGCGCATCCACCCCGACGGC	0.667												
SLC7A11	23657	broad.mit.edu	37	4	139153476	139153476	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:139153475_139153475TA>T	uc021xrw.1	-	2	746	c.466_466TA>A	c.(466-468)attfs	p.I156fs		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	156					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TCACATTGAATAAAAAATGGT	0.373												
MGST2	4258	broad.mit.edu	37	4	140624683	140624683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr4:140624682_140624682TA>T	uc003ihy.3	+	3	555	c.303_303TA>T	c.(301-303)gctfs	p.A101fs	MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	101			A -> V (in dbSNP:rs8192111).		glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGAAGCTGCTAAAAAACGGT	0.408												
SPEF2	79925	broad.mit.edu	37	5	35779343	35779344	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:35779342_35779343T>TC	uc003jjo.3	+	29	4452_4453	c.4341_4342T>TC	c.(4339-4344)cctcccfs	p.P1447fs	SPEF2_uc003jjp.1_Frame_Shift_Ins_p.P933fs|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1447					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCAGATCCTCCCCCATCAAT	0.401												
C5orf42	65250	broad.mit.edu	37	5	37169238	37169238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:37169237_37169237CT>C	uc011cpa.1	-	33	7120	c.6889_6889AG>G	c.(6889-6891)gaafs	p.E2297fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.E797fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.E1372fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.E330fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2297										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCTCAACTTCTTTTTTTCTG	0.413												
RGS7BP	401190	broad.mit.edu	37	5	63905019	63905019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:63905018_63905018AC>A	uc003jtj.3	+	5	713	c.713_713AC>A	c.(712-714)tacfs	p.Y238fs	RGS7BP_uc011cqu.2_Frame_Shift_Del_p.Y105fs	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	238					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CTAACTCCCTACCCCCTGGTG	0.468												
CEP120	153241	broad.mit.edu	37	5	122720714	122720714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:122720713_122720713TA>T	uc003ktk.3	-	11	1811	c.1695_1695TA>A	c.(1693-1695)ttafs	p.L565fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.L539fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.L374fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	565						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTAGAACCTAAAAAACGAG	0.373												
H2AFY	9555	broad.mit.edu	37	5	134679016	134679016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:134679015_134679015GT>G	uc003lam.1	-	7	1098	c.888_888AC>C	c.(886-888)aacfs	p.N296fs	AK026965_uc003laj.1_Non-coding_Transcript|H2AFY_uc003lal.1_Non-coding_Transcript|H2AFY_uc003lao.1_Frame_Shift_Del_p.N295fs|H2AFY_uc003lan.1_Frame_Shift_Del_p.N293fs|H2AFY_uc011cxz.1_Frame_Shift_Del_p.N124fs|H2AFY_uc003las.1_Frame_Shift_Del_p.N296fs|H2AFY_uc003lat.1_Frame_Shift_Del_p.N295fs	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	296	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCAAGCAGTTTTTCACTG	0.512												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
LARP1	23367	broad.mit.edu	37	5	154173390	154173391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154173389_154173390G>GC	uc003lvo.3	+	5	691_692	c.667_668G>GC	c.(667-669)gccfs	p.A223fs	LARP1_uc021ygh.1_Frame_Shift_Ins_p.A95fs|LARP1_uc021ygi.1_Frame_Shift_Ins_p.A300fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	300							RNA binding|protein binding	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644												
LARP1	23367	broad.mit.edu	37	5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:154181821_154181821AG>A	uc003lvo.3	+	10	1764	c.1740_1740AG>A	c.(1738-1740)ccafs	p.P580fs	LARP1_uc021ygh.1_Frame_Shift_Del_p.P452fs|LARP1_uc021ygi.1_Frame_Shift_Del_p.P657fs|LARP1_uc010jie.1_Frame_Shift_Del_p.P452fs	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	657							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACC	0.547												
HNRNPAB	3182	broad.mit.edu	37	5	177637177	177637194	+	In_Frame_Del	DEL	CAGGGCTACGGCTACCAG	CAGGGCTACGGCTACCAG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:177637176_177637193CCAGGGCTACGGCTACCAG>C	uc003miu.3	+	6	1088_1105	c.831_848CCAGGGCTACGGCTACCAG>C	c.(829-849)aaccagggctacggctaccag>aaCg	p.QGYGYQ278del	HNRNPAB_uc003miv.3_Intron|HNRNPAB_uc003mix.3_Intron|AGXT2L2_uc003miy.3_Intron|AGXT2L2_uc003mjc.3_Intron|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003miz.3_Intron|AGXT2L2_uc003mja.3_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	278	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						ACTACTGGAACCAGGGCTACGGCTACCAGCAGGGCTAC	0.610												
FLT4	2324	broad.mit.edu	37	5	180058748	180058748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr5:180058747_180058747CG>C	uc003mlz.4	-	1	169	c.90_90CG>G	c.(88-90)ccgfs	p.P30fs	FLT4_uc003mma.4_Frame_Shift_Del_p.P30fs|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Frame_Shift_Del_p.P30fs|FLT4_uc011dgz.1_Frame_Shift_Del_p.P30fs|FLT4_uc011dha.1_Frame_Shift_Del_p.P30fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	30	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P30fs*3(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCA	0.632												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667												
NHLRC1	378884	broad.mit.edu	37	6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522												
OR2H2	7932	broad.mit.edu	37	6	29555792	29555793	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29555791_29555792ACT>A	uc003nmr.1	+	0	109_110	c.70_71ACT>A	c.(70-72)actfs	p.T24fs	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	24					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTGGAAAGGACTCTCTTCGTG	0.550												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				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	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
EHMT2	10919	broad.mit.edu	37	6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:31852461_31852461AG>A	uc003nxz.1	-	19	2574	c.2564_2564CT>T	c.(2563-2565)ctgfs	p.L855fs	EHMT2_uc003nxx.1_Frame_Shift_Del_p.L53fs|EHMT2_uc003nxy.1_Frame_Shift_Del_p.L653fs|EHMT2_uc011don.1_Frame_Shift_Del_p.L878fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.L821fs	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	855					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGCGATGTGCAGGGGGGTGTC	0.652												
TNXB	7148	broad.mit.edu	37	6	32015786	32015787	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:32015785_32015786T>TA	uc003nzl.2	-	29	10245_10246	c.10043_10044A>TA	c.(10042-10044)ccafs	p.P3348fs	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3395	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTTGGTGTCTGGGGCTGGAAA	0.634												
TBC1D22B	55633	broad.mit.edu	37	6	37250063	37250064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:37250062_37250063G>GC	uc003onn.3	+	3	669_670	c.523_524G>GC	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAATG	0.569												
CUL9	23113	broad.mit.edu	37	6	43184211	43184212	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:43184210_43184211CCT>C	uc003ouk.3	+	30	6326_6327	c.6251_6252CCT>C	c.(6250-6252)cccfs	p.P2084fs	CUL9_uc003oul.3_Frame_Shift_Del_p.P2056fs|CUL9_uc010jyk.3_Frame_Shift_Del_p.P1236fs|CUL9_uc003oun.3_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2084					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACGACCTGCCCTCTCTCTGCT	0.609												
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039412	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:55039410_55039411T>TC	uc003pcl.3	+	0	340_341	c.25_26T>TC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564												
KIAA1009	22832	broad.mit.edu	37	6	84870551	84870551	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:84870550_84870550AT>A	uc010kbp.3	-	20	2859	c.2762_2762AT>T	c.(2761-2763)attfs	p.I921fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.I845fs|KIAA1009_uc003pki.4_Frame_Shift_Del_p.I307fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	921					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAGATCCTGAATTTTTTTGGC	0.353												
TBX18	9096	broad.mit.edu	37	6	85472405	85472405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:85472404_85472404TG>T	uc003pkl.1	-	1	355	c.355_355CA>A	c.(355-357)aagfs	p.K119fs	TBX18_uc010kbq.2_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	119					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGAGACCCCTTGGGGGAGCCT	0.711												
SOBP	55084	broad.mit.edu	37	6	107956439	107956439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:107956438_107956438CG>C	uc003prx.3	+	5	2894	c.2390_2390CG>C	c.(2389-2391)gcgfs	p.A797fs		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	797							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGCCCTGGCGGGGGGCGAC	0.627												
ZBTB24	9841	broad.mit.edu	37	6	109802729	109802730	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:109802728_109802729C>CT	uc003ptl.1	-	1	669_670	c.501_502G>AG	c.(499-504)aaagtcfs	p.K167fs	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Frame_Shift_Ins_p.K167fs|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Frame_Shift_Ins_p.K167fs	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AATGTATTGACTTTTTTTGGTC	0.416												
COL10A1	1300	broad.mit.edu	37	6	116441750	116441750	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:116441749_116441749AG>A	uc003pwm.3	-	2	1626	c.1530_1530CT>T	c.(1528-1530)cctfs	p.P510fs	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	510	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		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)		CTGGAGGCCCAGGGGGCCCTG	0.617												
RSPH4A	345895	broad.mit.edu	37	6	116951612	116951612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:116951611_116951611AC>A	uc003pxe.2	+	4	1957	c.1812_1812AC>A	c.(1810-1812)atafs	p.I604fs	RSPH4A_uc010kee.2_Frame_Shift_Del_p.Y559fs	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	604					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCAGAATATACCCCCCTGGA	0.398									Kartagener syndrome			
HECA	51696	broad.mit.edu	37	6	139488147	139488148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:139488146_139488147A>AG	uc003qin.3	+	1	1282_1283	c.997_998A>AG	c.(997-999)aggfs	p.R333fs		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589												
PLAGL1	5325	broad.mit.edu	37	6	144262630	144262630	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:144262629_144262629TG>T	uc003qjv.3	-	2	2590	c.1324_1324CA>A	c.(1324-1326)atcfs	p.I442fs	PLAGL1_uc003qjx.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qjy.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khl.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khm.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qjz.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qka.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkb.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkc.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkd.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qke.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkf.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkg.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkh.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qki.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkj.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkk.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkl.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qkm.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc010khn.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkn.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qko.3_Frame_Shift_Del_p.I442fs|PLAGL1_uc003qkp.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc003qjw.3_Frame_Shift_Del_p.I390fs|PLAGL1_uc021zgj.1_Frame_Shift_Del_p.I390fs	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	442					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P441H(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		ACATGAGGGATGGGGGGCAGG	0.532												
PNLDC1	154197	broad.mit.edu	37	6	160230161	160230161	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr6:160230160_160230160CT>C	uc003qsy.1	+	8	792	c.753_753CT>C	c.(751-753)gtcfs	p.V251fs	PNLDC1_uc003qsx.1_Frame_Shift_Del_p.V240fs	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	240						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTTTCTGTCTTTTTCCAAA	0.413												
DNAH11	8701	broad.mit.edu	37	7	21939669	21939670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:21939668_21939669C>CA	uc003svc.3	+	81	13285_13286	c.13254_13255C>CA	c.(13252-13257)accaaafs	p.T4418fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4418					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGATGTTACCAAAAAAACAAA	0.465									Kartagener syndrome			
HOXA11	3207	broad.mit.edu	37	7	27224538	27224538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:27224537_27224537CG>C	uc003syx.3	-	0	299	c.227_227CG>G	c.(226-228)cgcfs	p.R76fs	HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	76					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGATTGCCGCGGGGGTGCCA	0.657			T	NUP98	CML							
PHTF2	57157	broad.mit.edu	37	7	77569581	77569582	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:77569580_77569581C>CT	uc003ugs.4	+	12	1827_1828	c.1701_1702C>CT	c.(1699-1704)ttctttfs	p.F567fs	PHTF2_uc003ugp.3_Frame_Shift_Ins_p.F529fs|PHTF2_uc010ldv.3_Frame_Shift_Ins_p.F529fs|PHTF2_uc003ugq.4_Frame_Shift_Ins_p.F529fs|PHTF2_uc003ugt.4_Frame_Shift_Ins_p.F533fs|PHTF2_uc003ugu.4_Frame_Shift_Ins_p.F529fs|PHTF2_uc022agp.1_Frame_Shift_Ins_p.F567fs|PHTF2_uc010ldw.2_Frame_Shift_Ins_p.F349fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGTGGATTTTCTTTTTTTTGCT	0.307												
PCLO	27445	broad.mit.edu	37	7	82546109	82546111	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:82546108_82546110TCTC>T	uc003uhx.2	-	6	11481_11483	c.11192_11194GAGA>A	c.(11191-11196)gagatt>gAtt	p.3731_3732EI>D	PCLO_uc003uhv.2_In_Frame_Del_p.3731_3732EI>D|PCLO_uc010lec.3_In_Frame_Del_p.696_697EI>D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						CCTGTGGAAATCTCCTCAGGAGG	0.438												
AKAP9	10142	broad.mit.edu	37	7	91651608	91651608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:91651607_91651607CA>C	uc003ulg.3	+	12	4118	c.3893_3893CA>C	c.(3892-3894)ccafs	p.P1298fs	AKAP9_uc003ule.2_Frame_Shift_Del_p.P1310fs|AKAP9_uc003ulf.3_Frame_Shift_Del_p.P1298fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.P923fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1310					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	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)			GAAAACCTTCCAAAAGAGGAA	0.338			T	BRAF	papillary thyroid							
CYP51A1	1595	broad.mit.edu	37	7	91743137	91743138	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:91743136_91743137T>TC	uc003ulm.4	-	9	1534_1535	c.1372_1373A>GA	c.(1372-1374)gaafs	p.E458fs	CYP51A1_uc011khn.2_Frame_Shift_Ins_p.E353fs|CYP51A1_uc003uln.4_Frame_Shift_Ins_p.E395fs	NM_000786	NP_001139624	Q16850	CP51A_HUMAN	Homo sapiens cytochrome P450, family 51, subfamily A, polypeptide 1 (CYP51A1), transcript variant 1, mRNA.	452					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GGCAAAATTTTCCCCAATACAA	0.317												
ASNS	440	broad.mit.edu	37	7	97488171	97488171	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:97488170_97488170TA>T	uc003uot.4	-	5	1277	c.771_771TA>A	c.(769-771)ttafs	p.L257fs	ASNS_uc011kin.2_Frame_Shift_Del_p.L174fs|ASNS_uc011kio.2_Frame_Shift_Del_p.L236fs|ASNS_uc003uou.4_Frame_Shift_Del_p.L257fs|ASNS_uc003uov.4_Frame_Shift_Del_p.L257fs|ASNS_uc003uox.4_Frame_Shift_Del_p.L174fs	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	257	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCACCTGATAAAAGGCAGC	0.313												
ZKSCAN5	23660	broad.mit.edu	37	7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99103705_99103705AC>A	uc003uqv.3	+	1	162	c.38_38AC>A	c.(37-39)gacfs	p.D13fs	ZKSCAN5_uc010lfx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Del_p.D13fs|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	13					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	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)					ATAGACTTAGACCCCCCAGCT	0.483												
GPC2	221914	broad.mit.edu	37	7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:99771553_99771553AC>A	uc003utv.3	-	4	965	c.797_797GT>T	c.(796-798)gtcfs	p.V266fs	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	266						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.V266V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGTGAGGGGACCCCCCGGCA	0.647												
NAPEPLD	222236	broad.mit.edu	37	7	102769242	102769242	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338												
RINT1	60561	broad.mit.edu	37	7	105182902	105182902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:105182901_105182901TA>T	uc003vda.1	+	3	551	c.320_320TA>T	c.(319-321)ttafs	p.L107fs	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	107					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGAAGTGCCTTAAAAAATGCA	0.353												
GPR22	2845	broad.mit.edu	37	7	107115558	107115558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107115557_107115557GT>G	uc003vef.3	+	2	2398	c.1052_1052GT>G	c.(1051-1053)tgtfs	p.C351fs	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Frame_Shift_Del_p.C351fs	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	351						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTAAGATTGTGTTTTTTAGTC	0.299												
SLC26A4	5172	broad.mit.edu	37	7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107323939_107323939GA>G	uc003vep.3	+	7	1182	c.958_958GA>G	c.(958-960)gaafs	p.E320fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E320K(2)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCCAACCTGGAAAAAAATTA	0.348									Pendred syndrome			
LAMB1	3912	broad.mit.edu	37	7	107594141	107594142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:107594140_107594141A>AC	uc003vev.2	-	19	3146_3147	c.2985_2986T>GT	c.(2983-2988)gggtcgfs	p.G995fs	LAMB1_uc003vew.2_Frame_Shift_Ins_p.G971fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	971	Laminin EGF-like 10.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACACGACCCCCCAACTT	0.505												
DOCK4	9732	broad.mit.edu	37	7	111580273	111580273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:111580272_111580272CT>C	uc003vfy.3	-	10	1139	c.870_870AG>G	c.(868-870)aagfs	p.K290fs	DOCK4_uc003vfx.3_Frame_Shift_Del_p.K290fs|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Frame_Shift_Del_p.K290fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	290					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACAGGCATTCTTTTTTTCTC	0.453												
IFRD1	3475	broad.mit.edu	37	7	112112339	112112340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:112112338_112112339T>TA	uc003vgh.3	+	10	1576_1577	c.1106_1107T>TA	c.(1105-1107)gtafs	p.V369fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.V319fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.V369fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.V319fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.V86fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	369					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GATTGCTGGGTAAAAAAACACA	0.396												
CADPS2	93664	broad.mit.edu	37	7	122194676	122194676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:122194675_122194675AT>A	uc022akp.1	-	7	1826	c.1404_1404AT>T	c.(1402-1404)aatfs	p.N468fs	CADPS2_uc003vkg.4_Frame_Shift_Del_p.N168fs|CADPS2_uc022akq.1_Frame_Shift_Del_p.N468fs|CADPS2_uc010lkq.3_Frame_Shift_Del_p.N468fs|CADPS2_uc022akr.1_Frame_Shift_Del_p.N468fs	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	468					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATCCTGGCTATTTTTTGGAA	0.363												
RBM28	55131	broad.mit.edu	37	7	127979378	127979379	+	Splice_Site	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:127979377_127979378T>TA	uc003vmp.2	-	3	393	c.278_splice	c.e3-1	p.E93_splice	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Splice_Site_p.E40_splice	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	93					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGAGTTTTCTAAAAAATAAGA	0.401												
C7orf49	78996	broad.mit.edu	37	7	134851448	134851448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:134851447_134851447AC>A	uc003vsl.3	-	3	703	c.390_390GT>T	c.(388-390)ggtfs	p.G130fs	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Frame_Shift_Del_p.G101fs|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Frame_Shift_Del_p.G75fs|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Frame_Shift_Del_p.G75fs|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	130						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAGCTGGAACCCCCCGGCC	0.592												
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					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		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		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			
SSPO	23145	broad.mit.edu	37	7	149512268	149512268	+	Frame_Shift_Del	DEL	G	G	-	rs142728666	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr7:149512267_149512267CG>C	uc010lpk.3	+	74	10578	c.10578_10578CG>C	c.(10576-10578)tgcfs	p.C3526fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3529	TSP type-1 14.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGTAGACTGCGGGGGTGGCC	0.667												
TNKS	8658	broad.mit.edu	37	8	9623842	9623842	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:9623841_9623841GA>G	uc003wss.3	+	24	3651	c.3646_3646GA>G	c.(3646-3648)gaafs	p.E1216fs	TNKS_uc011kww.2_Frame_Shift_Del_p.E979fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1216	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTATTTTGCTGAAAACTCCTC	0.413												
DLC1	10395	broad.mit.edu	37	8	12957997	12957997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
EPHX2	2053	broad.mit.edu	37	8	27364393	27364394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:27364392_27364393G>GT	uc003xfu.3	+	4	622_623	c.541_542G>GT	c.(541-543)gttfs	p.V181fs	EPHX2_uc010lut.1_Frame_Shift_Ins_p.V181fs|EPHX2_uc010luv.3_Frame_Shift_Ins_p.V115fs|EPHX2_uc003xfv.3_Frame_Shift_Ins_p.V128fs|EPHX2_uc010luw.3_Frame_Shift_Ins_p.V115fs|EPHX2_uc011lam.1_Frame_Shift_Ins_p.V37fs	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	181	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGCTCAGGTCGTTTTTTTGGAT	0.470												
KCNU1	157855	broad.mit.edu	37	8	36768518	36768519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:36768517_36768518T>TC	uc010lvw.3	+	21	2488_2489	c.2401_2402T>TC	c.(2401-2403)tccfs	p.S801fs	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	801						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525												
FNTA	2339	broad.mit.edu	37	8	42924786	42924786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:42924785_42924785CA>C	uc003xps.3	+	3	537	c.489_489CA>C	c.(487-489)cccfs	p.P163fs	FNTA_uc003xpt.3_Frame_Shift_Del_p.P72fs|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	163					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	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)			AGGAGCAGCCCAAAAACTATC	0.483												
SDCBP	6386	broad.mit.edu	37	8	59492251	59492251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:59492250_59492250GA>G	uc003xtn.3	+	6	797	c.647_647GA>G	c.(646-648)ggafs	p.G216fs	SDCBP_uc003xto.3_Frame_Shift_Del_p.G215fs|SDCBP_uc003xtr.3_Frame_Shift_Del_p.G215fs|SDCBP_uc003xtq.3_Frame_Shift_Del_p.G216fs|SDCBP_uc003xtp.3_Frame_Shift_Del_p.G210fs|SDCBP_uc003xts.3_Frame_Shift_Del_p.G222fs|SDCBP_uc011led.2_Frame_Shift_Del_p.G157fs	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	216	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein N-terminus binding|protein heterodimerization activity|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTAAAAATGGAAAAATAACA	0.363												
RAB2A	5862	broad.mit.edu	37	8	61533311	61533311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:61533310_61533310TG>T	uc003xud.2	+	7	919	c.621_621TG>T	c.(619-621)gctfs	p.A207fs	RAB2A_uc011lef.2_Frame_Shift_Del_p.A183fs	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	207					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GACAGCAGGCTGGGGGCGGCT	0.512												
CYP7B1	9420	broad.mit.edu	37	8	65528784	65528785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:65528783_65528784A>AT	uc003xvj.2	-	2	518_519	c.314_315T>AT	c.(313-315)aatfs	p.N105fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	105					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTGTTTATGATTTTTTATCAC	0.302												
TRPA1	8989	broad.mit.edu	37	8	72958792	72958792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)		
FAM82B	51115	broad.mit.edu	37	8	87487103	87487105	+	In_Frame_Del	DEL	AGC	AGC	-	rs142797828		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87487102_87487104AAGC>A	uc003ydu.3	-	8	999_1001	c.839_841GCTT>T	c.(838-843)gctttc>gTtc	p.280_281AF>V	FAM82B_uc011lfz.2_In_Frame_Del_p.237_238AF>V|FAM82B_uc011lga.2_In_Frame_Del_p.250_251AF>V	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	280						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTAGCCAGAAAGCAGCAAGCTT	0.379												
CNGB3	54714	broad.mit.edu	37	8	87645015	87645015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:87645014_87645014GA>G	uc003ydx.3	-	10	1334	c.1286_1286TC>C	c.(1285-1287)tctfs	p.S429fs	CNGB3_uc010maj.3_Frame_Shift_Del_p.S291fs	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	429					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAAACTCCAGAAAAAAAATT	0.348												
DPY19L4	286148	broad.mit.edu	37	8	95792646	95792646	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:95792645_95792645TA>T	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+2	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGGAAAGAGGtaaaaaaatta	0.294												
TMEM74	157753	broad.mit.edu	37	8	109796600	109796600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:109796599_109796599GC>G	uc003ymy.1	-	1	834	c.729_729GC>C	c.(727-729)ggcfs	p.G243fs	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Frame_Shift_Del_p.G243fs	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	243					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.G243G(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ACAGGATGACGCCCCCCAGCG	0.582												
TATDN1	83940	broad.mit.edu	37	8	125535186	125535186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125535185_125535185CT>C	uc003yrd.2	-	1	123	c.81_81AG>G	c.(79-81)aagfs	p.K27fs	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Intron	NM_032026	NP_001139632	Q6P1N9	TATD1_HUMAN	Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA.	27						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACCTTGATGCTTTTGAACCC	0.353												
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:125597328_125597328CT>C	uc003yrl.2	-	6	994	c.460_splice	c.e6+1	p.V154_splice	MTSS1_uc003yrj.2_Splice_Site_p.G154_splice|MTSS1_uc003yrk.2_Splice_Site_p.G154_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	153	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373												
ASAP1	50807	broad.mit.edu	37	8	131226887	131226887	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:131226886_131226886TA>T	uc003yta.2	-	4	549	c.321_321TA>A	c.(319-321)ttafs	p.L107fs	ASAP1_uc011liw.2_Frame_Shift_Del_p.L100fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	107					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCTCGACTTAAAAAATTAC	0.358												
WISP1	8840	broad.mit.edu	37	8	134232957	134232958	+	Frame_Shift_Ins	INS	-	-	C	rs140648348	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:134232956_134232957G>GC	uc003yub.3	+	2	588_589	c.482_483G>GC	c.(481-483)cgcfs	p.R161fs	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	161	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGTC	0.653												
BAI1	575	broad.mit.edu	37	8	143562668	143562668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:143562667_143562667GC>G	uc003ywm.3	+	8	2064	c.1881_1881GC>G	c.(1879-1881)gagfs	p.E627fs		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	627					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			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	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)					CCTACTGGGAGCCCCCCACCT	0.617												
OPLAH	26873	broad.mit.edu	37	8	145109542	145109542	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr8:145109541_145109541TG>T	uc003zar.3	-	18	2691	c.2609_2609CA>A	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	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)	CATGGTGGAGTGGGGGGGCAT	0.637												
ERMP1	79956	broad.mit.edu	37	9	5801292	5801293	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:5801291_5801292G>GT	uc003zjm.1	-	10	2005_2006	c.1951_1952C>AC	c.(1951-1953)accfs	p.T651fs	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Ins_p.T265fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	651					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTAGCATGGTTTTTTTTGTG	0.361												
PSIP1	11168	broad.mit.edu	37	9	15468955	15468955	+	Splice_Site	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:15468954_15468954CT>C	uc003zlv.4	-	13	1536	c.1206_splice	c.e13+1	p.K402_splice	PSIP1_uc003zlw.4_Splice_Site_p.K402_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	402					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)		AAATCACTTACTTTTTTCAGT	0.318												
ADAMTSL1	92949	broad.mit.edu	37	9	18680350	18680351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:18680349_18680350T>TG	uc003zne.4	+	10	1328_1329	c.1176_1177T>TG	c.(1174-1179)tgtgggfs	p.C392fs	ADAMTSL1_uc003znb.3_Frame_Shift_Ins_p.C375fs|ADAMTSL1_uc003znc.4_Frame_Shift_Ins_p.C392fs	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	392	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584												
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Splice_Site	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:18829842_18829842TC>T	uc003zne.4	+	23	4267	c.4115_splice	c.e23-1	p.D1372_splice	ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAG	0.567												
KIF24	347240	broad.mit.edu	37	9	34256536	34256537	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:34256535_34256536TCA>T	uc003zua.4	-	10	3189_3190	c.3069_3070TGA>A	c.(3067-3072)gtgaaafs	p.V1023fs	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1023					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGACCGTTTTTCACAGTGCTGG	0.559												
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527												
CD72	971	broad.mit.edu	37	9	35612993	35612993	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:35612992_35612992TA>T	uc003zxb.2	-	6	813	c.689_splice	c.e6-1	p.D230_splice	CD72_uc010mkt.1_Splice_Site_p.D15_splice|CD72_uc010mku.2_Intron	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	230					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGTGTCTAAAAAGCAGA	0.418												
C9orf41	138199	broad.mit.edu	37	9	77614678	77614678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:77614677_77614677TA>T	uc004ajq.3	-	3	853	c.700_700TA>A	c.(700-702)atgfs	p.M234fs	C9orf41_uc011lsi.1_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	234										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAAAAGAGCATAAAAAAACTC	0.343												
PTCH1	5727	broad.mit.edu	37	9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662												
NIPSNAP3B	55335	broad.mit.edu	37	9	107513348	107513348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:107513347_107513347GA>G	uc004bch.1	+	1	276	c.171_171GA>G	c.(169-171)gagfs	p.E57fs	NIPSNAP3B_uc011lvt.2_Frame_Shift_Del_p.E57fs|NIPSNAP3B_uc011lvu.1_Frame_Shift_Del_p.E57fs	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	57										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AAAATTTTGAGAAAAACGCTC	0.388												
PTGR1	22949	broad.mit.edu	37	9	114359602	114359602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:114359601_114359601AT>A	uc010mue.3	-	1	365	c.102_102AT>T	c.(100-102)aatfs	p.N34fs	PTGR1_uc011lwr.2_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfh.2_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfi.3_Frame_Shift_Del_p.N34fs|PTGR1_uc004bfj.3_5'UTR	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	34					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						ACTTACCTCCATTTTTTAAGG	0.398												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
ARPC5L	81873	broad.mit.edu	37	9	127639218	127639218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:127639217_127639217TA>T	uc004bpa.4	+	3	546	c.460_460TA>T	c.(460-462)taafs	p.*154fs		NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5-like (ARPC5L), mRNA.	0					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.?(1)		large_intestine(2)|lung(1)	3						AAAGACTGTTTAAAAAAAATA	0.438												
POMT1	10585	broad.mit.edu	37	9	134381551	134381553	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:134381550_134381552ATCT>A	uc004cav.3	+	2	374_376	c.172_174ATCT>A	c.(172-174)atc>A	p.I58del	POMT1_uc011mci.1_In_Frame_Del_p.I58del|POMT1_uc004cax.3_In_Frame_Del_p.I58del|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_In_Frame_Del_p.I58del|POMT1_uc004caw.3_In_Frame_Del_p.I4del|POMT1_uc011mck.2_Intron|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Intron	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	58					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.I58M(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CATGAAACAAATCTTCTTCTTGG	0.414												
CEL	1056	broad.mit.edu	37	9	135946988	135946989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:135946987_135946988G>GC	uc010naa.1	+	10	2123_2124	c.2107_2108G>GC	c.(2107-2109)gccfs	p.A703fs		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				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			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				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)		TGACTCCGGGGCCCCCCCCGTG	0.822												
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652												
PFKP	5214	broad.mit.edu	37	10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
KIF5B	3799	broad.mit.edu	37	10	32311826	32311827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:32311825_32311826A>AT	uc001iwe.4	-	15	2334_2335	c.1864_1865T>AT	c.(1864-1866)atgfs	p.M622fs		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	622					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATTTTCTTCCATTTTTTTGTTG	0.347			T	"""RET, ALK"""	NSCLC							
FAM190B	54462	broad.mit.edu	37	10	86131826	86131826	+	Frame_Shift_Del	DEL	A	A	-	rs145873640		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:86131825_86131825TA>T	uc010qmd.1	+	1	1211	c.1017_1017TA>T	c.(1015-1017)aatfs	p.N339fs	FAM190B_uc001kdg.1_Frame_Shift_Del_p.N339fs|FAM190B_uc001kdh.1_Frame_Shift_Del_p.N339fs			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	339								p.N339K(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						TTGATGGAAATAAAAATTCAC	0.403												
BTAF1	9044	broad.mit.edu	37	10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:93756246_93756246AT>A	uc001khr.3	+	23	3528	c.3430_3430AT>A	c.(3430-3432)attfs	p.I1144fs	BTAF1_uc001kht.1_Frame_Shift_Del_p.I582fs	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.	1144					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)				AACAATGAATATTTTTTTGGA	0.433												
LZTS2	84445	broad.mit.edu	37	10	102762593	102762593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:102762592_102762592AC>A	uc001ksj.3	+	1	467	c.297_297AC>A	c.(295-297)tcafs	p.S99fs	LZTS2_uc010qpw.2_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksk.3_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksl.3_Frame_Shift_Del_p.S99fs|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	99	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGACAGAGTCACCCCCCAGCC	0.617												
CNNM2	54805	broad.mit.edu	37	10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:104679762_104679762AC>A	uc001kwm.3	+	0	1688	c.1525_1525AC>A	c.(1525-1527)accfs	p.T509fs	CNNM2_uc001kwn.3_Frame_Shift_Del_p.T509fs|CNNM2_uc001kwl.3_Frame_Shift_Del_p.T509fs	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	509	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		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)		CGATGACTGTACCCCCCTGAA	0.488												
SH3PXD2A	9644	broad.mit.edu	37	10	105361689	105361689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:105361688_105361688AC>A	uc010qqu.1	-	11	3099	c.3032_3032GT>T	c.(3031-3033)gtgfs	p.V1011fs	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Frame_Shift_Del_p.V903fs|SH3PXD2A_uc010qqt.1_Frame_Shift_Del_p.V945fs|SH3PXD2A_uc009xxn.1_Frame_Shift_Del_p.V903fs|SH3PXD2A_uc001kxj.1_Frame_Shift_Del_p.V1068fs	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	1096					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCCATGGACACCCCCTCCTG	0.532												
CCDC147	159686	broad.mit.edu	37	10	106152048	106152048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:106152047_106152047GA>G	uc001kyh.3	+	9	1556	c.1422_1422GA>G	c.(1420-1422)aggfs	p.R474fs		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	474										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTGACTACAGGAAAAAAATAG	0.353												
FAM24B	196792	broad.mit.edu	37	10	124608920	124608920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:124608919_124608919AT>A	uc001lgt.3	-	3	463	c.129_129AT>T	c.(127-129)aatfs	p.N43fs	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Frame_Shift_Del_p.N43fs	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	43						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CTGGGTTGTGATTTTTTACAG	0.473												
PWWP2B	170394	broad.mit.edu	37	10	134218281	134218281	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:134218280_134218280GC>G	uc001lll.4	+	1	305	c.276_276GC>G	c.(274-276)cagfs	p.Q92fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.Q92fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	92	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCGGGGTTCAGCCCCCCGAGA	0.746												
SYCE1	93426	broad.mit.edu	37	10	135369214	135369214	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr10:135369213_135369213TG>T	uc001lno.2	-	11	825	c.720_splice	c.e11-1	p.V240_splice	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Splice_Site_p.V112_splice|SYCE1_uc009ybn.2_Splice_Site_p.V240_splice|SYCE1_uc001lnn.2_Splice_Site_p.V204_splice	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	240					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AACAGCTGCCTGGGGGGCCCA	0.642												
ART1	417	broad.mit.edu	37	11	3681478	3681478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:3681477_3681477TC>T	uc001lye.1	+	2	829	c.728_728TC>T	c.(727-729)atcfs	p.I243fs	ART1_uc009yeb.1_Frame_Shift_Del_p.I243fs	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GAGGTGCTGATCCCCCCCTTT	0.612												
TPP1	1200	broad.mit.edu	37	11	6636199	6636199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:6636198_6636198TC>T	uc001mel.1	-	11	1511	c.1450_1450GA>A	c.(1450-1452)atcfs	p.I484fs	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Frame_Shift_Del_p.I241fs	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	484					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AAGGATAGGATCCCCCCAAAC	0.512												
MPEG1	219972	broad.mit.edu	37	11	58978570	58978570	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:58978569_58978569AG>A	uc001nnu.4	-	0	1926	c.1770_1770CT>T	c.(1768-1770)cctfs	p.P590fs		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	590						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAGCCTGGCAGGGGGCAGGG	0.592												
OR4D11	219986	broad.mit.edu	37	11	59271134	59271135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:59271133_59271134C>CT	uc001noa.1	+	0	85_86	c.85_86C>CT	c.(85-87)cttfs	p.L29fs		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTTGTTTCTTTTTTTATGT	0.436												
HNRNPUL2	221092	broad.mit.edu	37	11	62491839	62491839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:62491838_62491838AC>A	uc001nuw.3	-	1	828	c.599_599GT>T	c.(598-600)gtafs	p.V200fs	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTCTCTTTACCCCCCGCCG	0.498												
MACROD1	28992	broad.mit.edu	37	11	63918791	63918791	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:63918790_63918790CT>C	uc001nyh.3	-	2	557	c.438_438AG>G	c.(436-438)aagfs	p.K146fs		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	Homo sapiens MACRO domain containing 1 (MACROD1), mRNA.	146	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCTGCTTGTCCTTTTTATACC	0.612												
SF1	7536	broad.mit.edu	37	11	64537456	64537457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:64537455_64537456CCA>C	uc001obb.2	-	4	911_912	c.459_460TGG>G	c.(457-462)gtggggfs	p.V153fs	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Frame_Shift_Del_p.V127fs|SF1_uc001oaz.2_Frame_Shift_Del_p.V278fs|SF1_uc001oba.2_Frame_Shift_Del_p.V153fs|SF1_uc001obd.2_Frame_Shift_Del_p.V153fs|SF1_uc001obc.2_Frame_Shift_Del_p.V153fs|SF1_uc001obe.2_Frame_Shift_Del_p.V38fs|SF1_uc010rno.2_Frame_Shift_Del_p.V38fs	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	153	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATGAGCAGCCCCACAAAGTTGA	0.470												
SCYL1	57410	broad.mit.edu	37	11	65304600	65304601	+	Splice_Site	DEL	GT	GT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:65304599_65304600GGT>G	uc001oea.1	+	14	2036	c.1959_splice	c.e14+1	p.E653_splice	SCYL1_uc009yqk.3_Splice_Site_p.E653_splice|SCYL1_uc001oeb.1_Splice_Site_p.E636_splice|SCYL1_uc001oec.1_Splice_Site_p.E653_splice|SCYL1_uc001oee.1_Splice_Site_p.E297_splice	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	653					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GCAGCCTGGAGGTGTGTGGGGC	0.639												
BRMS1	25855	broad.mit.edu	37	11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:66108713_66108713GC>G	uc001oho.1	-	3	469	c.322_322GC>C	c.(322-324)ctgfs	p.L108fs	BRMS1_uc001ohp.1_Frame_Shift_Del_p.L108fs|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	108					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTCCGCTGCAGCCCCCCAAGG	0.627												
TBX10	347853	broad.mit.edu	37	11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:67402372_67402372AG>A	uc001omp.3	-	2	380	c.292_292CT>T	c.(292-294)ttcfs	p.F98fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	98					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTCACCTGGAAGGGGGGGAAC	0.677												
ATG16L2	89849	broad.mit.edu	37	11	72535842	72535843	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:72535841_72535842C>CTG	uc001otd.3	+	8	990_991	c.950_951C>CTG	c.(949-951)cctfs	p.P317fs	ATG16L2_uc010rrf.1_3'UTR|ATG16L2_uc001ote.3_Frame_Shift_Ins_p.P211fs|ATG16L2_uc009ytj.2_Intron	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	317					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CAGATCATCCCTGTGTGTGTGG	0.594												
EED	8726	broad.mit.edu	37	11	85977144	85977144	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:85977143_85977143GA>G	uc001pbp.3	+	7	1211	c.745_745GA>G	c.(745-747)gaafs	p.E249fs	EED_uc010rtm.2_Frame_Shift_Del_p.E249fs|EED_uc001pbq.3_Frame_Shift_Del_p.E249fs|EED_uc001pbr.3_Frame_Shift_Del_p.E249fs|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	249	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCTTTTGGGTGAAAAAATAAT	0.294												
CTSC	1075	broad.mit.edu	37	11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338												
KIAA1377	57562	broad.mit.edu	37	11	101833648	101833648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:101833647_101833647TA>T	uc001pgm.3	+	5	2151	c.1881_1881TA>T	c.(1879-1881)attfs	p.I627fs	KIAA1377_uc001pgn.3_Frame_Shift_Del_p.I583fs|KIAA1377_uc010run.2_Frame_Shift_Del_p.I428fs|KIAA1377_uc009yxa.1_Frame_Shift_Del_p.I428fs	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	627							protein binding	p.T626A(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAAAGACCATTAAAAAACTGA	0.328												
MMP3	4314	broad.mit.edu	37	11	102713563	102713563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:102713562_102713562AT>A	uc001phj.1	-	1	256	c.191_191AT>T	c.(190-192)atcfs	p.I64fs		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	64					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CATTTCTCGGATTTTTTTAAC	0.438												
CASP4	837	broad.mit.edu	37	11	104825608	104825608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:104825607_104825607CT>C	uc001pid.1	-	1	202	c.129_129AG>G	c.(127-129)aagfs	p.K43fs	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Frame_Shift_Del_p.K43fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.K43fs	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	43	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.K43N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		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)		CGTAATATTTCTTTTTTTCCT	0.408												
CWF19L2	143884	broad.mit.edu	37	11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:107299559_107299559CT>C	uc010rvp.2	-	7	1429	c.1399_1399AG>G	c.(1399-1401)gaafs	p.E467fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	467							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CGTAGATGTTCTTTTTTTGGA	0.363												
BCO2	83875	broad.mit.edu	37	11	112064312	112064312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:112064311_112064311TA>T	uc001pnf.3	+	2	525	c.408_408TA>T	c.(406-408)gctfs	p.A136fs	BCO2_uc001pne.1_5'UTR|BCO2_uc001png.3_Frame_Shift_Del_p.A136fs|BCO2_uc001pnh.3_Frame_Shift_Del_p.A102fs|BCO2_uc010rwt.2_Frame_Shift_Del_p.A31fs|BCO2_uc009yyn.3_Frame_Shift_Del_p.A102fs|BCO2_uc001pni.3_Frame_Shift_Del_p.A102fs	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	136					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCAACAGTGCTAAAAACCGAA	0.463												
BACE1	23621	broad.mit.edu	37	11	117167623	117167623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:117167622_117167622TG>T	uc001pqz.3	-	1	778	c.317_317CA>A	c.(316-318)cacfs	p.H106fs	BACE1_uc001pqw.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pqx.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pqy.3_Frame_Shift_Del_p.H106fs|BACE1_uc001pra.1_Frame_Shift_Del_p.H106fs|BACE1_uc010rxg.2_5'Flank|BACE1_uc010rxh.2_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	106					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CAGGAAGGGGTGGGGGGCAGC	0.567												
NLRX1	79671	broad.mit.edu	37	11	119050611	119050611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr11:119050610_119050610TG>T	uc001pvu.3	+	6	2095	c.1880_1880TG>T	c.(1879-1881)atgfs	p.M627fs	NLRX1_uc010rzc.1_Frame_Shift_Del_p.M449fs|NLRX1_uc001pvv.3_Frame_Shift_Del_p.M627fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.M627fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.M627fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTT	0.627												
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-	rs80196697		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393												
PIK3C2G	5288	broad.mit.edu	37	12	18491390	18491391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:18491389_18491390T>TA	uc001rdt.3	+	8	1418_1419	c.1302_1303T>TA	c.(1300-1305)gttaaafs	p.V434fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Ins_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Ins_p.V212fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	434					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGAAGAAGTTAAAAAAATATG	0.312												
GOLT1B	51026	broad.mit.edu	37	12	21661406	21661406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:21661405_21661405GT>G	uc001rez.2	+	2	365	c.206_206GT>G	c.(205-207)ggtfs	p.G69fs	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	69	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AAAGCTACAGGTTTTTTTCTG	0.343												
KIF21A	55605	broad.mit.edu	37	12	39735929	39735929	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:39735928_39735928TA>T	uc001rly.3	-	13	2133	c.1713_splice	c.e13-1	p.S571_splice	KIF21A_uc001rlw.3_5'Flank|KIF21A_uc001rlx.3_Splice_Site_p.S558_splice|KIF21A_uc001rlz.3_Splice_Site_p.S558_splice|KIF21A_uc010skl.2_Splice_Site_p.S558_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	571					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGCCACACTAAAAAAAGGA	0.333												
LRRK2	120892	broad.mit.edu	37	12	40699673	40699674	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:40699672_40699673T>TG	uc001rmg.4	+	27	3984_3985	c.3863_3864T>TG	c.(3862-3864)atgfs	p.M1288fs	LRRK2_uc009zjw.3_Frame_Shift_Ins_p.M126fs|LRRK2_uc001rmi.3_Frame_Shift_Ins_p.M121fs	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1288					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			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCAATGAAATGGGGAAATTAA	0.356												
HDAC7	51564	broad.mit.edu	37	12	48189045	48189046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:48189044_48189045T>TG	uc010slo.2	-	10	1401_1402	c.1206_1207A>CA	c.(1204-1209)cccagtfs	p.P402fs	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Frame_Shift_Ins_p.P365fs|HDAC7_uc001rqk.4_Frame_Shift_Ins_p.P385fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	363	Transcription repression 2 (By similarity).				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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCGGTGGCACTGGGGGGCAGGG	0.658												
MLL2	8085	broad.mit.edu	37	12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
TUBA1B	10376	broad.mit.edu	37	12	49523373	49523375	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:49523372_49523374TCTC>T	uc001rtm.3	-	1	356_358	c.135_137GAGA>A	c.(133-138)ggagat>ggAt	p.D47del	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_In_Frame_Del_p.D12del	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	47					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GAAGGAGTCATCTCCTCCCCCAA	0.576												
KRT75	9119	broad.mit.edu	37	12	52827736	52827736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:52827735_52827735AG>A	uc001saj.2	-	0	376	c.354_354CT>T	c.(352-354)cctfs	p.P118fs		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	118	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGATGCCTCCAGGGGGACACA	0.622												
LRP1	4035	broad.mit.edu	37	12	57560723	57560723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57560722_57560722GC>G	uc001snd.3	+	17	3273	c.2807_2807GC>G	c.(2806-2808)tgcfs	p.C936fs	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	936	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCGCACCTGCCCCCCCAAC	0.592												
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGG	0.592												
DCTN2	10540	broad.mit.edu	37	12	57927806	57927806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:57927805_57927805TG>T	uc021qzn.1	-	8	747	c.615_615CA>A	c.(613-615)ccafs	p.P205fs	DCTN2_uc001som.1_Frame_Shift_Del_p.P200fs|DCTN2_uc009zpv.1_Frame_Shift_Del_p.P113fs|DCTN2_uc009zpw.1_Frame_Shift_Del_p.P113fs	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	200					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCC	0.502												
E2F7	144455	broad.mit.edu	37	12	77449858	77449858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:77449857_77449857AT>A	uc001sym.4	-	2	383	c.147_147AT>T	c.(145-147)aatfs	p.N49fs		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	49					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAATTGGTTCATTTTTTATTG	0.353												
ATP2B1	490	broad.mit.edu	37	12	90013833	90013833	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:90013832_90013832AT>A	uc001tbh.3	-	9	1954	c.1773_1773AT>T	c.(1771-1773)aatfs	p.N591fs	ATP2B1_uc001tbg.3_Frame_Shift_Del_p.N591fs|ATP2B1_uc001tbf.3_Frame_Shift_Del_p.N261fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	591					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTCCATCTGAATTTTTCAGGA	0.358												
TCHP	84260	broad.mit.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478												
ACAD10	80724	broad.mit.edu	37	12	112140078	112140079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112140077_112140078G>GT	uc009zvx.3	+	2	499_500	c.299_300G>GT	c.(298-300)ggtfs	p.G100fs	ACAD10_uc009zvw.2_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tso.4_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tsp.3_Frame_Shift_Ins_p.G100fs|ACAD10_uc001tsq.3_Frame_Shift_Ins_p.G100fs	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	100							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ACAGCAGAGGGTTTTTTACGAG	0.401												
ERP29	10961	broad.mit.edu	37	12	112457688	112457688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:112457687_112457687TG>T	uc001ttk.1	+	1	390	c.272_272TG>T	c.(271-273)gtgfs	p.V91fs	ERP29_uc001ttl.1_Intron	NM_006817	NP_006808	P30040	ERP29_HUMAN	Homo sapiens endoplasmic reticulum protein 29 (ERP29), transcript variant 1, mRNA.	91					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTGGCAGAGGTGGGGATCTCA	0.542												
OAS1	4938	broad.mit.edu	37	12	113346491	113346492	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:113346490_113346491AAG>A	uc001tuc.3	+	1	436_437	c.330_331AAG>A	c.(328-333)caaagafs	p.Q110fs	OAS1_uc010syn.2_Frame_Shift_Del_p.Q109fs|OAS1_uc010syo.2_Frame_Shift_Del_p.Q109fs|OAS1_uc001tub.3_Frame_Shift_Del_p.Q110fs|OAS1_uc001tud.3_Frame_Shift_Del_p.Q110fs|OAS1_uc009zwf.3_Frame_Shift_Del_p.Q109fs	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	110	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AAGCCTGTCAAAGAGAGAGAGC	0.554												
HSPB8	26353	broad.mit.edu	37	12	119617377	119617377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:119617376_119617376AC>A	uc001txb.3	+	0	782	c.259_259AC>A	c.(259-261)accfs	p.T87fs		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	87					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGGGCAGGACCCCCCCACC	0.647												
MORN3	283385	broad.mit.edu	37	12	122090652	122090653	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:122090651_122090652CCT>C	uc001uax.3	-	4	882_883	c.711_712AGG>G	c.(709-714)gaggaafs	p.E237fs	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	237										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAATCTCCTTCCTCTGTCTTCC	0.559												
NCOR2	9612	broad.mit.edu	37	12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1310					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
XPO4	64328	broad.mit.edu	37	13	21384005	21384005	+	Frame_Shift_Del	DEL	A	A	-	rs35001993		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:21384004_21384004TA>T	uc001unq.4	-	9	1312	c.1276_1276TA>A	c.(1276-1278)accfs	p.T426fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	426					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCATGTTGGGTAAAAAAGCCT	0.363												
SACS	26278	broad.mit.edu	37	13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:23911842_23911842GA>G	uc001uon.2	-	9	6762	c.6173_6173TC>C	c.(6172-6174)tctfs	p.S2058fs	SACS_uc001uoo.2_Frame_Shift_Del_p.S1911fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2058					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		AAACACTTCAGAAAAAAACTG	0.333												
PARP4	143	broad.mit.edu	37	13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:25030499_25030499GT>G	uc001upl.3	-	20	2648	c.2542_2542AC>C	c.(2542-2544)catfs	p.H848fs	PARP4_uc010tdc.2_Frame_Shift_Del_p.H848fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	848					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		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)		TTTTCTGGATGTTTTTCAACC	0.393												
BRCA2	675	broad.mit.edu	37	13	32953633	32953634	+	Frame_Shift_Ins	INS	-	-	A	rs80359732		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32953632_32953633C>CA	uc001uub.1	+	21	9160_9161	c.8933_8934C>CA	c.(8932-8934)tcafs	p.S2978fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2978					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	p.Y2977*(1)		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)		GTAAGCTATTCAAAAAAAGAAA	0.322			"""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)		
BRCA2	675	broad.mit.edu	37	13	32954273	32954274	+	Frame_Shift_Ins	INS	-	-	A	rs80359752		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:32954272_32954273G>GA	uc001uub.1	+	23	9473_9474	c.9246_9247G>GA	c.(9244-9249)gtgaaafs	p.V3082fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3082					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)		TTTCTGTTGTGAAAAAAACAGG	0.351			"""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)		
SPG20	23111	broad.mit.edu	37	13	36909426	36909426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:36909425_36909425AC>A	uc001uvn.3	-	2	813	c.543_543GT>T	c.(541-543)ggtfs	p.G181fs	SPG20_uc010ten.2_Frame_Shift_Del_p.G181fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.G181fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.G181fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	181					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGTGTAGTGACCTTCAGCAG	0.483												
PIBF1	10464	broad.mit.edu	37	13	73428254	73428254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:73428253_73428253GA>G	uc001vjc.3	+	9	1587	c.1282_1282GA>G	c.(1282-1284)gaafs	p.E428fs	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Frame_Shift_Del_p.E428fs|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	428						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGTGATGGCTGAAAAGGATGC	0.348												
MYCBP2	23077	broad.mit.edu	37	13	77671705	77671706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:77671704_77671705C>CT	uc021rks.1	-	55	9851_9852	c.9584_9585G>AG	c.(9583-9585)aagfs	p.K3195fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.K2561fs|MYCBP2_uc001vkg.1_Frame_Shift_Ins_p.K680fs|MYCBP2_uc010aew.3_Frame_Shift_Ins_p.K543fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		cacactctttctttttAAGAAC	0.396												
SLITRK5	26050	broad.mit.edu	37	13	88329586	88329586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:88329585_88329585GC>G	uc001vln.3	+	1	2161	c.1942_1942GC>G	c.(1942-1944)gccfs	p.A648fs	SLITRK5_uc010tic.1_Frame_Shift_Del_p.A407fs|SLITRK5_uc021rlc.1_Frame_Shift_Del_p.A648fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	648						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGCACCGGGGCCCCCGCGAG	0.617												
DCT	1638	broad.mit.edu	37	13	95095734	95095734	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr13:95095733_95095733TA>T	uc010afh.3	-	8	1864	c.1437_1437TA>A	c.(1435-1437)ttafs	p.L479fs	DCT_uc001vlv.4_Frame_Shift_Del_p.L446fs	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	446					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)		GGTCTGAGGTTAAAAAGAGTT	0.458												
TINF2	26277	broad.mit.edu	37	14	24710897	24710898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24710896_24710897C>CA	uc001woa.4	-	2	725_726	c.383_384G>TG	c.(382-384)ttgfs	p.L128fs	TINF2_uc010alm.3_5'UTR|TINF2_uc001wob.4_Frame_Shift_Ins_p.L128fs|TINF2_uc010tof.2_Frame_Shift_Ins_p.L93fs|TINF2_uc001woc.4_Frame_Shift_Ins_p.L128fs	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	128					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTTCGAGGCCAAATCCACAGG	0.455									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome			
NYNRIN	57523	broad.mit.edu	37	14	24884963	24884963	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24884962_24884962GC>G	uc001wpf.4	+	8	4325	c.4007_4007GC>G	c.(4006-4008)agcfs	p.S1336fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1336					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCGCCCACCAGCCCCCCTGTC	0.612												
NYNRIN	57523	broad.mit.edu	37	14	24885916	24885917	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:24885915_24885916TAC>T	uc001wpf.4	+	8	5278_5279	c.4960_4961TAC>T	c.(4960-4962)tacfs	p.Y1654fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1654	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGCCCTACACACACACG	0.614												
SOCS4	122809	broad.mit.edu	37	14	55510994	55510996	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:55510993_55510995CCTT>C	uc021rti.1	+	0	1234_1236	c.1234_1236CCTT>C	c.(1234-1236)cct>C	p.P412del	SOCS4_uc001xbo.3_In_Frame_Del_p.P412del|SOCS4_uc001xbp.3_In_Frame_Del_p.P412del	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	412	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CCTTCCAATTCCTTCTTCTATGA	0.379												
FBXO34	55030	broad.mit.edu	37	14	55817461	55817461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:55817460_55817460GA>G	uc021rtk.1	+	0	352	c.352_352GA>G	c.(352-354)gaafs	p.E118fs	FBXO34_uc001xbv.3_5'Flank|FBXO34_uc001xbu.3_Frame_Shift_Del_p.E118fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.E118fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	118								p.K117N(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAATACCAAGGAAAAAATTGC	0.413												
C14orf43	91748	broad.mit.edu	37	14	74206623	74206623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:74206622_74206622AG>A	uc010tud.1	-	0	337	c.90_90CT>T	c.(88-90)cctfs	p.P30fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.P30fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.P30fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCTGCAGGGGAGGGGGCTGCT	0.647												
YLPM1	56252	broad.mit.edu	37	14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517												
HSP90AA1	3320	broad.mit.edu	37	14	102548569	102548571	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:102548568_102548570TGTC>T	uc001yku.4	-	9	2157_2159	c.1967_1969GACA>A	c.(1966-1971)gacaag>gAag	p.656_657DK>E	HSP90AA1_uc001ykv.4_In_Frame_Del_p.778_779DK>E	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	656					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTCACAGACTTGTCGTTCTTATC	0.458												
CDC42BPB	9578	broad.mit.edu	37	14	103447237	103447238	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr14:103447236_103447237C>CT	uc001ymi.1	-	7	1245_1246	c.1013_1014G>AG	c.(1012-1014)aagfs	p.K338fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	338	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.K338fs*8(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AAAACGCATGCTTTTTGAAATC	0.455												
FMN1	342184	broad.mit.edu	37	15	33256350	33256350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:33256349_33256349GT>G	uc001zhf.4	-	4	2428	c.2428_2428AC>C	c.(2428-2430)cctfs	p.P810fs		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1033	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		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)		TCTGACAGAGGTTTTTTCTTC	0.368												
SPATA5L1	79029	broad.mit.edu	37	15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCT	0.363												
MYO5C	55930	broad.mit.edu	37	15	52504011	52504012	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:52504010_52504011G>GCA	uc010bff.3	-	34	4374_4375	c.4212_4213C>TGC	c.(4210-4215)gtgcgcfs	p.V1404fs	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1404						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGCGTAGCGCACACACATGA	0.515												
MNS1	55329	broad.mit.edu	37	15	56736027	56736027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:56736026_56736026AT>A	uc002adr.2	-	5	878	c.713_713AT>T	c.(712-714)atgfs	p.M238fs	MNS1_uc010bfo.2_Frame_Shift_Del_p.M106fs|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	238	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CATTGCATTCATTTTTTCTAA	0.289												
TCF12	6938	broad.mit.edu	37	15	57489984	57489985	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:57489983_57489984C>CA	uc002aec.3	+	7	823_824	c.539_540C>CA	c.(538-540)gcafs	p.A180fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.A232fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.A176fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.A180fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.A180fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.A180fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	180					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCCTTGCAAGCAAAAAAAGTCA	0.347			T	TEC	extraskeletal myxoid chondrosarcoma							
ADAM10	102	broad.mit.edu	37	15	58902544	58902544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:58902543_58902543CT>C	uc002afd.1	-	13	2422	c.1978_1978AG>G	c.(1978-1980)gcafs	p.A660fs	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Frame_Shift_Del_p.A359fs|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Frame_Shift_Del_p.A197fs	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	660	Cys-rich.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTAAAAATTGCTTTTTTAAGC	0.363												
EFTUD1	79631	broad.mit.edu	37	15	82519819	82519819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:82519818_82519818GA>G	uc002bgt.1	-	10	1334	c.1165_1165TC>C	c.(1165-1167)ccafs	p.P389fs	EFTUD1_uc002bgu.1_Frame_Shift_Del_p.P338fs	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	389					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTTTCTGGTGGAAAAGAGTCA	0.458												
SPATA8	145946	broad.mit.edu	37	15	97328286	97328287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr15:97328285_97328286T>TC	uc002bue.3	+	2	463_464	c.256_257T>TC	c.(256-258)tccfs	p.S86fs	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	86								p.S86T(2)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCCATCTGCTTCCCCACTGATT	0.455												
FAHD1	81889	broad.mit.edu	37	16	1877707	1877708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:1877706_1877707A>AG	uc002cnc.1	+	0	482_483	c.476_477A>AG	c.(475-477)gagfs	p.E159fs	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Frame_Shift_Ins_p.E159fs|FAHD1_uc010brz.3_Frame_Shift_Ins_p.E159fs	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	159						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						CTCAGACAGGAGGGTGAGACAT	0.520												
HCFC1R1	54985	broad.mit.edu	37	16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-	rs147841549	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617												
OR1F1	4992	broad.mit.edu	37	16	3254715	3254717	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:3254714_3254716CCTT>C	uc010uwu.2	+	0	468_470	c.468_470CCTT>C	c.(466-471)gtcctt>gtCt	p.L158del		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACCTGAATGTCCTTCTGCACACC	0.527												
USP7	7874	broad.mit.edu	37	16	9000392	9000392	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:9000391_9000391TG>T	uc002czl.2	-	12	1519	c.1320_1320CA>A	c.(1318-1320)acafs	p.T440fs	USP7_uc010uyk.1_Frame_Shift_Del_p.T341fs|USP7_uc010uyj.1_Frame_Shift_Del_p.T341fs|USP7_uc002czk.2_Frame_Shift_Del_p.T424fs|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	440					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCTTAGGATCTGTTTTTTGCA	0.333												
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687												
ADCY7	113	broad.mit.edu	37	16	50338374	50338374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:50338373_50338373TG>T	uc002egd.1	+	9	1739	c.1471_1471TG>T	c.(1471-1473)tggfs	p.W491fs	ADCY7_uc002egb.1_Frame_Shift_Del_p.W491fs|ADCY7_uc002egc.2_Frame_Shift_Del_p.W491fs	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	491					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTCGAGTCCTGGGGGGCGGC	0.697												
NKD1	85407	broad.mit.edu	37	16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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	53504727	53504727	+	Frame_Shift_Del	DEL	A	A	-	rs67367291		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:53504726_53504726GA>G	uc002ehi.4	+	16	2713	c.2595_2595GA>G	c.(2593-2595)aggfs	p.R865fs	RBL2_uc002ehj.3_Frame_Shift_Del_p.R575fs|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	865	Domain B.|Pocket; binds E1A.				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			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						ATGAATTGAGGAAAAAAATCT	0.378												
HERPUD1	9709	broad.mit.edu	37	16	56969317	56969317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:56969316_56969316GA>G	uc002eke.1	+	2	638	c.229_229GA>G	c.(229-231)gaafs	p.E77fs	HERPUD1_uc010vhj.1_Frame_Shift_Del_p.E138fs|HERPUD1_uc002ekf.1_Splice_Site_p.E76_splice|HERPUD1_uc002ekg.1_Intron|HERPUD1_uc010cco.1_Frame_Shift_Del_p.E138fs|HERPUD1_uc010ccp.1_Splice_Site_p.E137_splice|HERPUD1_uc002ekh.1_5'Flank	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	77						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTTAGCAGGAAAAACGGCA	0.408			T	ERG	prostate							
SMPD3	55512	broad.mit.edu	37	16	68397465	68397465	+	Splice_Site	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:68397464_68397464TG>T	uc002ewa.3	-	7	2068	c.1646_splice	c.e7-1	p.G549_splice	SMPD3_uc010cfe.3_Splice_Site_p.G549_splice|SMPD3_uc010vlh.2_Splice_Site_p.G541_splice	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	549					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCAGAGTACCTGGGGGGGACG	0.667												
DHX38	9785	broad.mit.edu	37	16	72137034	72137036	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72137033_72137035AAAG>A	uc002fcb.3	+	11	1915_1917	c.1560_1562AAAG>A	c.(1558-1563)gcaaag>gcAg	p.K523del	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	523					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAATTTGCAAAGAAGAAGTCC	0.522												
ZFHX3	463	broad.mit.edu	37	16	72830903	72830904	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:72830902_72830903C>CCT	uc002fck.3	-	8	6351_6352	c.5678_5679G>AGG	c.(5677-5679)aggfs	p.R1893fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.R979fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1893					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCGCTGTCCCTCTCTCTCTG	0.540												
FAM92B	339145	broad.mit.edu	37	16	85135924	85135925	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:85135923_85135924C>CA	uc021tma.1	-	6	703_704	c.547_548G>TG	c.(547-549)tgtfs	p.C183fs	FAM92B_uc021tlz.1_Frame_Shift_Ins_p.C181fs	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	183								p.F182L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TACAAAGTCACAAAAAAATTTC	0.505												
C16orf7	9605	broad.mit.edu	37	16	89778933	89778934	+	Splice_Site	INS	-	-	G	rs143123169	by1000genomes	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr16:89778932_89778933T>TG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668												
KIAA0664	23277	broad.mit.edu	37	17	2604055	2604055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:2604054_2604054TG>T	uc002fuy.1	-	7	1063	c.977_977CA>A	c.(976-978)cagfs	p.Q326fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.Q258fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	326							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						ATGCTCCGCCTGGGGGGCTGT	0.667												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
SLC13A5	284111	broad.mit.edu	37	17	6596457	6596457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:6596456_6596456AG>A	uc002gdj.3	-	8	1270	c.1182_1182CT>T	c.(1180-1182)cctfs	p.P394fs	SLC13A5_uc010clq.3_Frame_Shift_Del_p.P351fs|SLC13A5_uc002gdk.3_Frame_Shift_Del_p.P377fs|SLC13A5_uc010vtf.2_Frame_Shift_Del_p.P394fs	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	394						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCAGCAGGGGAGGGGGATAAA	0.512												
DNAH2	146754	broad.mit.edu	37	17	7678253	7678253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7678252_7678252CA>C	uc002giu.1	+	27	4691	c.4677_4677CA>C	c.(4675-4677)ctcfs	p.L1559fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1559	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCACACCTCAAAAAATGCT	0.522												
DNAH2	146754	broad.mit.edu	37	17	7678591	7678592	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:7678590_7678591T>TG	uc002giu.1	+	28	4765_4766	c.4751_4752T>TG	c.(4750-4752)gtgfs	p.V1584fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1584	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGAAGCTGTGGGGATGTTCT	0.584												
NT5M	56953	broad.mit.edu	37	17	17250190	17250190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
PROCA1	147011	broad.mit.edu	37	17	27030601	27030601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:27030600_27030600TG>T	uc002hcb.3	-	4	1196	c.993_993CA>A	c.(991-993)ccafs	p.P331fs	PROCA1_uc010crv.2_Frame_Shift_Del_p.P257fs|PROCA1_uc002hca.1_Frame_Shift_Del_p.P329fs	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	357					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGTTTGATCCTGGGGGAGATT	0.542												
SLFN5	162394	broad.mit.edu	37	17	33592101	33592101	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:33592100_33592100GA>G	uc002hjf.4	+	4	1986	c.1869_1869GA>G	c.(1867-1869)aagfs	p.K623fs	SLFN5_uc010wcg.2_Frame_Shift_Del_p.R383fs	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	623					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTTTCAGCAAGAAAAACATCT	0.398												
HNF1B	6928	broad.mit.edu	37	17	36059174	36059175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36059173_36059174T>TG	uc002hok.4	-	7	1782_1783	c.1561_1562A>CA	c.(1561-1563)cagfs	p.Q521fs	HNF1B_uc021tvu.1_Frame_Shift_Ins_p.Q226fs|HNF1B_uc010wdi.2_Frame_Shift_Ins_p.Q495fs|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515												
GPR179	440435	broad.mit.edu	37	17	36485586	36485586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:36485585_36485585CT>C	uc002hpz.3	-	10	3888	c.3867_3867AG>G	c.(3865-3867)aagfs	p.K1289fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1289						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCCCCTCTCTTTTTTTGGG	0.572												
KRT24	192666	broad.mit.edu	37	17	38859836	38859837	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:38859835_38859836G>GC	uc002hvd.3	-	0	167_168	c.110_111C>GC	c.(109-111)ggcfs	p.G37fs		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGCCGAGCTGCCCCCCAGACC	0.658												
NAGLU	4669	broad.mit.edu	37	17	40690427	40690427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:40690426_40690426TG>T	uc002hzv.3	+	2	941	c.601_601TG>T	c.(601-603)tggfs	p.W201fs		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	201						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTTCCTGGCCTGGGGGCGAAT	0.572												
GJC1	10052	broad.mit.edu	37	17	42882323	42882323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:42882322_42882322AG>A	uc002ihj.3	-	1	1375	c.864_864CT>T	c.(862-864)cctfs	p.P288fs	GJC1_uc002ihk.3_Frame_Shift_Del_p.P288fs|GJC1_uc002ihl.3_Frame_Shift_Del_p.P288fs|GJC1_uc021tyf.1_Frame_Shift_Del_p.P288fs	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	288					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.P288fs*>109(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGTTATAGCCAGGGGGAGCAG	0.463												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
COIL	8161	broad.mit.edu	37	17	55028016	55028017	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:55028015_55028016C>CT	uc002iuu.3	-	1	618_619	c.587_588G>AG	c.(586-588)aagfs	p.K196fs		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GATTCTTAGCCTTTTTTTTATA	0.396												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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												
RNF43	54894	broad.mit.edu	37	17	56448298	56448299	+	Frame_Shift_Ins	INS	-	-	G	rs2257205	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:56448297_56448298C>CG	uc002iwf.3	-	1	2305_2306	c.349_350G>CG	c.(349-351)cgcfs	p.R117fs	RNF43_uc010wnv.2_Intron|RNF43_uc002iwh.4_Frame_Shift_Ins_p.R117fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.R117fs|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	117			R -> H (in dbSNP:rs2257205).			endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			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)					CAGGCAGGGGCGGGGGGCCCGT	0.604												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
STRADA	92335	broad.mit.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:61781803_61781803CG>C	uc002jbm.3	-	10	1272	c.998_998CG>G	c.(997-999)cggfs	p.R333fs	STRADA_uc002jbn.3_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.2_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbo.3_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.3_Frame_Shift_Del_p.R296fs|STRADA_uc010ddw.3_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	333	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|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GTTGGAGGGCCGGGGGGTGCT	0.647												
SCN4A	6329	broad.mit.edu	37	17	62038770	62038770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:62038769_62038769CT>C	uc002jds.1	-	10	1706	c.1629_1629AG>G	c.(1627-1629)aagfs	p.K543fs		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	543					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGGTGGGCACTTTTGGTGGG	0.562												
SDK2	54549	broad.mit.edu	37	17	71394282	71394283	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:71394281_71394282T>TG	uc010dfm.3	-	23	3246_3247	c.3246_3247A>CA	c.(3244-3249)cccagtfs	p.P1082fs	SDK2_uc002jjt.4_Frame_Shift_Ins_p.P241fs|SDK2_uc010dfn.2_Frame_Shift_Ins_p.P761fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1082	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTGG	0.619												
BIRC5	332	broad.mit.edu	37	17	76210416	76210416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76210415_76210415GC>G	uc002jvg.3	+	0	139	c.18_18GC>G	c.(16-18)ttgfs	p.L6fs	BIRC5_uc002jvc.3_Frame_Shift_Del_p.C30fs|BIRC5_uc002jve.1_Frame_Shift_Del_p.C30fs|BIRC5_uc002jvd.1_Frame_Shift_Del_p.L6fs|BIRC5_uc010dhl.1_Frame_Shift_Del_p.C30fs|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Frame_Shift_Del_p.L6fs|BIRC5_uc002jvh.3_Frame_Shift_Del_p.L6fs|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	6					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CCCCGACGTTGCCCCCTGCCT	0.672												
CANT1	124583	broad.mit.edu	37	17	76993149	76993149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:76993148_76993148AC>A	uc002jwj.3	-	1	1052	c.557_557GT>T	c.(556-558)gtcfs	p.V186fs	CANT1_uc002jwn.3_Frame_Shift_Del_p.V186fs|CANT1_uc002jwk.3_Frame_Shift_Del_p.V186fs|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGGTAGACGACCCCCGTCCG	0.582			T	ETV4	prostate							
BAHCC1	57597	broad.mit.edu	37	17	79409593	79409593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr17:79409592_79409592GC>G	uc002kaf.2	+	3	1031	c.1031_1031GC>G	c.(1030-1032)cgcfs	p.R344fs	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	406							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GACAAGGGCCGCCCCTTCCAG	0.711												
ANKRD12	23253	broad.mit.edu	37	18	9255186	9255187	+	Frame_Shift_Ins	INS	-	-	A	rs11374717		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:9255185_9255186G>GA	uc002knv.3	+	8	2184_2185	c.1920_1921G>GA	c.(1918-1923)ctgaaafs	p.L640fs	ANKRD12_uc002knw.3_Frame_Shift_Ins_p.L617fs|ANKRD12_uc002knx.3_Frame_Shift_Ins_p.L617fs|ANKRD12_uc010dkx.1_Frame_Shift_Ins_p.L347fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	640						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						attgcacactgaaaaaaatgga	0.282												
RBBP8	5932	broad.mit.edu	37	18	20572908	20572909	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:20572907_20572908G>GA	uc002kua.3	+	10	1240_1241	c.1117_1118G>GA	c.(1117-1119)gaafs	p.E373fs	RBBP8_uc002ktw.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.E373fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.E373fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	373					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATCTAGATTAGAAAAAACTAGA	0.342								Homologous recombination				
DSC2	1824	broad.mit.edu	37	18	28669460	28669461	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:28669459_28669460GTC>G	uc002kwl.4	-	4	1026_1027	c.572_573GAC>C	c.(571-573)gacfs	p.D191fs	DSC2_uc002kwk.4_Frame_Shift_Del_p.D191fs	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	191	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGTTTCCAGTGTCTCTCTCCAC	0.391												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013286	+	Splice_Site	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr18:57013284_57013285C>CT	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGGA	0.297												
GRIN3B	116444	broad.mit.edu	37	19	1007861	1007861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:1007860_1007860AC>A	uc002lqo.1	+	4	2204	c.2204_2204AC>A	c.(2203-2205)gacfs	p.D735fs	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	735					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCAGGAGCGACCCCCCCAAG	0.706												
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTG	0.612												
SNAPC2	6618	broad.mit.edu	37	19	7987438	7987438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:7987437_7987437GC>G	uc002miw.2	+	4	851	c.793_793GC>G	c.(793-795)gccfs	p.A265fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	265					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACGCCTGACAGCCCCCCAGCC	0.652												
OR7G3	390883	broad.mit.edu	37	19	9236991	9236992	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:9236990_9236991CAG>C	uc010xkl.2	-	0	636_637	c.636_637CTG>G	c.(634-639)tctgggfs	p.S212fs		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAATGATCCCAGAGAGAGGAA	0.426												
FARSA	2193	broad.mit.edu	37	19	13039163	13039165	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:13039162_13039164GGAA>G	uc002mvs.2	-	6	881_883	c.833_835TTCC>C	c.(832-837)ttcctt>tCtt	p.278_279FL>S	FARSA_uc010xmv.1_In_Frame_Del_p.247_248FL>S	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	278					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCACCTCGAAGGAAGAAGGTGTC	0.571												
SYDE1	85360	broad.mit.edu	37	19	15224501	15224502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:15224500_15224501G>GC	uc002nah.1	+	7	1965_1966	c.1934_1935G>GC	c.(1933-1935)agcfs	p.S645fs	SYDE1_uc002nai.1_Frame_Shift_Ins_p.S578fs|SYDE1_uc002naj.1_Frame_Shift_Ins_p.S302fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	645					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCCCCGAAAGCCCCCCGAGCA	0.688												
CHERP	10523	broad.mit.edu	37	19	16640564	16640565	+	In_Frame_Ins	INS	-	-	GCT			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16640563_16640564A>AGCT	uc002nei.1	-	7	1098_1099	c.1024_1025T>AGCT	c.(1024-1026)ctc>AGCTc	p.L342S	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	342	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CGGCATCTGGAgctgctgctgc	0.673												
NWD1	284434	broad.mit.edu	37	19	16860457	16860457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:16860456_16860456AC>A	uc002neu.4	+	5	1425	c.1003_1003AC>A	c.(1003-1005)accfs	p.T335fs	NWD1_uc002net.4_Frame_Shift_Del_p.T200fs|NWD1_uc002nev.4_Frame_Shift_Del_p.T129fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.T200fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	335	NACHT.						ATP binding	p.S335S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGCAGCACACCCCCCTGGT	0.617												
ZNF626	199777	broad.mit.edu	37	19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					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)		CAATGGTCCCTAAAAAAAACA	0.383												
GAPDHS	26330	broad.mit.edu	37	19	36033264	36033265	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:36033263_36033264C>CA	uc002oaf.1	+	4	608_609	c.492_493C>CA	c.(490-495)ccctacfs	p.P164fs	AX747325_uc002oag.3_Intron|AX747325_uc021usq.1_3'UTR	NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	164					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	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)	TCGGGAGCCCCTACGTGGTGGA	0.619												
ZNF570	148268	broad.mit.edu	37	19	37974994	37974994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:37974993_37974993CT>C	uc010efl.1	+	5	756	c.637_637CT>C	c.(637-639)cttfs	p.L213fs	ZNF570_uc002ogk.1_Frame_Shift_Del_p.L157fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAAGAACCCCTTTTTGATGA	0.398												
FAM98C	147965	broad.mit.edu	37	19	38899416	38899417	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:38899415_38899416C>CG	uc002oin.1	+	7	962_963	c.943_944C>CG	c.(943-945)cggfs	p.R315fs	FAM98C_uc002oio.1_Frame_Shift_Ins_p.R233fs|FAM98C_uc010xtz.1_Frame_Shift_Ins_p.P181fs	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	315								p.R315L(2)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564												
PLA2G4C	8605	broad.mit.edu	37	19	48588317	48588317	+	Splice_Site	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:48588316_48588316CA>C	uc010xzd.2	-	10	1211	c.874_splice	c.e10+1	p.A292_splice	PLA2G4C_uc002phw.3_Splice_Site_p.A217_splice|PLA2G4C_uc010elr.3_Splice_Site_p.A282_splice|PLA2G4C_uc002phx.3_Splice_Site_p.A282_splice	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	282	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AAATACTCACCAAAAATAAGG	0.393												
KCNA7	3743	broad.mit.edu	37	19	49573738	49573738	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:49573737_49573737GA>G	uc002pmg.3	-	1	1310	c.954_954TC>C	c.(952-954)ttcfs	p.F318fs		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGATGAAGAGGAAAAAGATGA	0.572												
ZNF600	162966	broad.mit.edu	37	19	53270553	53270553	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:53270552_53270552GT>G	uc002qab.4	-	2	743	c.457_457AC>C	c.(457-459)cagfs	p.Q153fs	ZNF600_uc021uyz.1_Frame_Shift_Del_p.Q153fs	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TATACTTCCTGTTTTTGTGGG	0.388												
LILRA4	23547	broad.mit.edu	37	19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:54844918_54844918TG>T	uc002qfj.3	-	7	1482	c.1425_1425CA>A	c.(1423-1425)ccafs	p.P475fs	LILRA4_uc002qfi.3_Frame_Shift_Del_p.P409fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	475						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCTGCACCTTGGGGGGCTTC	0.547												
ZSCAN18	65982	broad.mit.edu	37	19	58600101	58600102	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr19:58600100_58600101T>TG	uc010yht.1	-	2	705_706	c.675_676A>CA	c.(673-678)cccagcfs	p.P225fs	ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGGCCTGGCTGGGGCTCGCGA	0.649												
SNRPB	6628	broad.mit.edu	37	20	2443740	2443740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:2443739_2443739AG>A	uc002wfz.1	-	4	718	c.555_555CT>T	c.(553-555)cctfs	p.P185fs	SNRPB_uc002wga.1_Frame_Shift_Del_p.P185fs|SNRPB_uc010zpv.2_Frame_Shift_Del_p.P106fs|SNRPB_uc002wgb.3_Frame_Shift_Del_p.P185fs|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	185	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCACCTGGAGGGGGTGCTC	0.567												
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAG	0.617												
FERMT1	55612	broad.mit.edu	37	20	6091015	6091015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:6091014_6091014TG>T	uc002wmr.3	-	4	1466	c.677_677CA>A	c.(676-678)cagfs	p.Q226fs	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Frame_Shift_Del_p.Q226fs|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	226	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTCTGGGGACTGGGGGGGTTG	0.527												
ISM1	140862	broad.mit.edu	37	20	13260475	13260475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:13260474_13260474AC>A	uc010gce.1	+	2	578	c.572_572AC>A	c.(571-573)aacfs	p.N191fs	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	191						extracellular region		p.L190I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGG	0.552												
RRBP1	6238	broad.mit.edu	37	20	17601408	17601410	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:17601407_17601409GCTC>G	uc002wpw.1	-	16	2436_2438	c.2159_2161GAGC>C	c.(2158-2163)gagcag>gCag	p.720_721EQ>A	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_In_Frame_Del_p.90_91EQ>A|RRBP1_uc002wpu.3_In_Frame_Del_p.494_495EQ>A|RRBP1_uc010gcl.1_In_Frame_Del_p.494_495EQ>A|RRBP1_uc002wpv.1_In_Frame_Del_p.720_721EQ>A|RRBP1_uc010gcm.1_In_Frame_Del_p.173_174EQ>A	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	1153					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTCCACACCTGCTCCTCCTCCTC	0.675												
MYLK2	85366	broad.mit.edu	37	20	30407987	30407987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:30407986_30407986GC>G	uc002wwq.2	+	2	212	c.110_110GC>G	c.(109-111)ggcfs	p.G37fs		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	37					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGACCCTGGCCCCCCAGAC	0.592												
NCOA6	23054	broad.mit.edu	37	20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-	rs143078359		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:33346693_33346693CG>C	uc002xav.3	-	6	3129	c.558_558CG>G	c.(556-558)ccgfs	p.P186fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P186fs|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATTTCCACCCGGGGGTATCA	0.453												
TOP1	7150	broad.mit.edu	37	20	39750659	39750661	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr20:39750658_39750660AAAG>A	uc002xjl.3	+	19	2304_2306	c.2058_2060AAAG>A	c.(2056-2061)tcaaag>tcAg	p.K689del	BC035080_uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	689					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TAGTAGAGTCAAAGAAGAAGGCT	0.468			T	NUP98	AML*							
KRTAP10-6	386674	broad.mit.edu	37	21	46012220	46012221	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr21:46012219_46012220C>CGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147G>CAGCTGCTGCGCCCCG	c.(145-147)ccg>cCAGCTGCTGCGCCCCG	p.49_49P>PAAAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688												
MICAL3	57553	broad.mit.edu	37	22	18300180	18300182	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:18300179_18300181CCTT>C	uc002zng.4	-	25	5599_5601	c.5246_5248AAGG>G	c.(5245-5250)aaggac>aGac	p.1749_1750KD>R	MICAL3_uc011agl.2_In_Frame_Del_p.1665_1666KD>R|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1749						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTTCTTGTCCTTCTTGTACCC	0.645												
GNAZ	2781	broad.mit.edu	37	22	23438488	23438488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:23438487_23438487TG>T	uc002zwu.1	+	1	1142	c.605_605TG>T	c.(604-606)gtgfs	p.V202fs	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	202						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	p.D201D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAG	0.577												
MN1	4330	broad.mit.edu	37	22	28193690	28193690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:28193689_28193689CT>C	uc003adj.3	-	0	3798	c.2843_2843AG>G	c.(2842-2844)aggfs	p.R948fs		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	948							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						ACCACTGTCCCTTTTTCTGCG	0.687			T	ETV6	"""AML, meningioma"""							
SSTR3	6753	broad.mit.edu	37	22	37602621	37602622	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:37602620_37602621T>TC	uc003ara.3	-	1	1284_1285	c.1222_1223A>GA	c.(1222-1224)gagfs	p.E408fs	SSTR3_uc003arb.3_Frame_Shift_Ins_p.E408fs|SSTR3_uc021wos.1_Frame_Shift_Ins_p.E408fs	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	408					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			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTGGACTTCTCCCCAGTGGAA	0.653												
TAB1	10454	broad.mit.edu	37	22	39772049	39772049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:39772048_39772048AC>A	uc003axr.3	+	1	1889	c.107_107AC>A	c.(106-108)gacfs	p.D36fs	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGGTCCTGGGACCCCCCAGCC	0.597												
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		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)		CAGCGCTGCCGCCCCCCAGAA	0.657												
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:302051_302051GT>G	uc004cpg.3	-	8	1430	c.1166_1166AC>C	c.(1165-1167)acafs	p.T389fs	PPP2R3B_uc004cpf.3_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				CCTGGTCGGTGTTTTTTTGTC	0.562												
PRRG1	5638	broad.mit.edu	37	X	37312611	37312612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:37312610_37312611A>AC	uc004ddn.3	+	4	646_647	c.393_394A>AC	c.(391-396)ccacccfs	p.P131fs	PRRG1_uc004ddo.3_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buu.1_Frame_Shift_Ins_p.P131fs|PRRG1_uc022buv.1_Frame_Shift_Ins_p.P131fs	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485												
TFE3	7030	broad.mit.edu	37	X	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	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"""							
GSPT2	23708	broad.mit.edu	37	X	51487453	51487453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:51487452_51487452GA>G	uc004dpl.3	+	0	972	c.730_730GA>G	c.(730-732)gaafs	p.E244fs		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	244					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAAGCTAAGGAAAAAAACAG	0.428												
CXCR3	2833	broad.mit.edu	37	X	70836495	70836496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:70836494_70836495C>CT	uc022bys.1	-	0	968_969	c.968_969G>AG	c.(967-969)ctgfs	p.L323fs	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Frame_Shift_Ins_p.L276fs|CXCR3_uc011mpx.2_Frame_Shift_Ins_p.L323fs	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	276					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGATGTCCACCAGCACCACCAG	0.663												
BRWD3	254065	broad.mit.edu	37	X	79978171	79978172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:79978170_79978171C>CA	uc004edt.3	-	16	2029_2030	c.1766_1767G>TG	c.(1765-1767)ttgfs	p.L589fs	BRWD3_uc004edp.3_Frame_Shift_Ins_p.L418fs|BRWD3_uc004edq.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc010nmj.2_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edr.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eds.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edo.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edu.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004edv.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edw.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edx.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edy.3_Frame_Shift_Ins_p.L185fs|BRWD3_uc004edz.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eea.3_Frame_Shift_Ins_p.L259fs|BRWD3_uc004eeb.3_Frame_Shift_Ins_p.L185fs	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	589										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAACATCCACCAAAAATGGAGG	0.436												
ARMCX1	51309	broad.mit.edu	37	X	100809163	100809163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:100809162_100809162CT>C	uc022cak.1	+	0	1249	c.1249_1249CT>C	c.(1249-1251)cttfs	p.L417fs	ARMCX1_uc004ehv.3_Frame_Shift_Del_p.L417fs|ARMCX1_uc004ehw.3_Frame_Shift_Del_p.L417fs	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	417						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGAAGTTCACTTTTTTTCTT	0.333												
TMSB15A	11013	broad.mit.edu	37	X	101770012	101770012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:101770011_101770011AT>A	uc004eje.3	-	1	204	c.81_81AT>T	c.(79-81)aatfs	p.N27fs		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	27					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						AGGGAAGAGTATTTTTTTCTT	0.373												
DCX	1641	broad.mit.edu	37	X	110654094	110654094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:110654093_110654093CA>C	uc004epd.3	-	0	282	c.110_110TG>G	c.(109-111)tgtfs	p.C37fs	DCX_uc011msv.2_Frame_Shift_Del_p.C37fs|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	37					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATAGCCTGACAAAATTCCCC	0.428												
FRMD7	90167	broad.mit.edu	37	X	131214037	131214038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:131214036_131214037G>GT	uc004ewn.3	-	10	1225_1226	c.1047_1048C>AC	c.(1045-1050)aaacaafs	p.K349fs	FRMD7_uc022cdy.1_Frame_Shift_Ins_p.K229fs|FRMD7_uc011muy.2_Frame_Shift_Ins_p.K334fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AACCTTACTTGTTTTGACACAT	0.396												
GPR112	139378	broad.mit.edu	37	X	135426886	135426886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:135426885_135426885GA>G	uc004ezu.1	+	5	1311	c.1020_1020GA>G	c.(1018-1020)atgfs	p.M340fs	GPR112_uc010nsb.1_Frame_Shift_Del_p.M135fs|GPR112_uc010nsc.1_Frame_Shift_Del_p.M107fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	340					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S339S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATTCCATGAAAAAAACGA	0.388												
PRRG3	79057	broad.mit.edu	37	X	150869297	150869298	+	Frame_Shift_Ins	INS	-	-	G	rs139807152	byFrequency	TCGA-BR-8078-01A-11D-2340-08	TCGA-BR-8078-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bc1875d-e406-4a35-afca-899f61b71c47	297a9105-ac5a-4c40-b601-05d087b3c279	g.chrX:150869296_150869297C>CG	uc022cgt.1	+	3	536_537	c.487_488C>CG	c.(487-489)cggfs	p.R163fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673												
