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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
NOC2L	26155	broad.mit.edu	37	1	892498	892498	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:892498G>A	uc001abz.3	-	3	394	c.335C>T	c.(334-336)TCC>TTC	p.S112F	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.S112F	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	112						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ATCTGGCAGGGAGTGGAACGG	0.582		NA											66	389					0	0	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394440	3394440	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:3394440C>G	uc001akg.3	+	11	1723	c.1475C>G	c.(1474-1476)TCC>TGC	p.S492C	ARHGEF16_uc001aki.2_Missense_Mutation_p.S204C|ARHGEF16_uc001akj.2_Missense_Mutation_p.S204C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.S196C	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	492					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCCCCAGTCCCTCCCACTG	0.637		NA											15	79					0	0	0	0
AJAP1	55966	broad.mit.edu	37	1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:4772109C>T	uc001alm.1	+	2	560	c.179C>T	c.(178-180)CCG>CTG	p.P60L	AJAP1_uc001aln.2_Missense_Mutation_p.P60L	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	60	Extracellular (Potential).				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)		ccgccccggccgccccggcTG	0.592		NA											25	75					0	0	0	0
EPHA2	1969	broad.mit.edu	37	1	16458218	16458218	+	Missense_Mutation	SNP	C	C	T	rs2291806		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:16458218C>T	uc001aya.1	-	14	2610	c.2473G>A	c.(2473-2475)GAG>AAG	p.E825K		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	825	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCACCCACCTCGTGGTTGGAC	0.587		NA											11	87					0	0	0	0
HSPG2	3339	broad.mit.edu	37	1	22158995	22158995	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:22158995C>T	uc001bfj.2	-	81	11240	c.11200G>A	c.(11200-11202)GAG>AAG	p.E3734K	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.E3735K	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3734	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACCGGAACTCGGGCCTTCCC	0.632		NA											16	103					0	0	0	0
MYOM3	127294	broad.mit.edu	37	1	24432564	24432564	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:24432564C>G	uc001bin.3	-	5	569	c.406G>C	c.(406-408)GAG>CAG	p.E136Q	MYOM3_uc001bio.2_Missense_Mutation_p.E136Q|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	136	Potential.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTTCTCCTCTGTCTGGAGG	0.617		NA											7	36					0	0	0	0
UBXN11	91544	broad.mit.edu	37	1	26620764	26620764	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26620764G>A	uc001blw.2	-	9	764	c.491C>T	c.(490-492)TCA>TTA	p.S164L	UBXN11_uc001blz.1_Missense_Mutation_p.S131L|UBXN11_uc001blv.2_Missense_Mutation_p.S126L|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Missense_Mutation_p.S131L|UBXN11_uc001bmb.1_Missense_Mutation_p.S164L|UBXN11_uc010ofb.1_Missense_Mutation_p.S89L|UBXN11_uc010ofc.1_Missense_Mutation_p.S6L	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	164						cytoplasm|cytoskeleton				ovary(1)	1						CTTGCTCTCTGAGTCCTCCTG	0.617		NA											55	96					0	0	0	0
AIM1L	55057	broad.mit.edu	37	1	26648788	26648788	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26648788C>G	uc001bmd.3	-	18	2059	c.1629G>C	c.(1627-1629)GTG>GTC	p.V543V		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	543	Ricin B-type lectin.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGGGTCCAATCACCTGTAGGC	0.632		NA											7	98					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27106087	27106087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27106087G>C	uc001bmv.1	+	20	6071	c.5698G>C	c.(5698-5700)GAT>CAT	p.D1900H	ARID1A_uc001bmu.1_Missense_Mutation_p.D1683H|ARID1A_uc001bmx.1_Missense_Mutation_p.D746H|ARID1A_uc009vsm.1_Missense_Mutation_p.D228H|ARID1A_uc009vsn.1_Missense_Mutation_p.D142H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1900					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCCCCACCTGATGGACCTCC	0.587		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								6	88					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27189782	27189782	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27189782A>G	uc001bnc.1	+	1	150	c.79A>G	c.(79-81)AAA>GAA	p.K27E		NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	27					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|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;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGCCTTCATGAAAGGCGCCGT	0.617		NA											31	68					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27190331	27190331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27190331G>T	uc001bnc.1	+	1	699	c.628G>T	c.(628-630)GAG>TAG	p.E210*	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	210					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|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;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CACCCTCAGCGAGGACTCCTA	0.617		NA											50	114					3.86e-30	4.31e-30	1	0
COL16A1	1307	broad.mit.edu	37	1	32160810	32160810	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:32160810C>A	uc001btk.1	-	11	1323	c.958G>T	c.(958-960)GTC>TTC	p.V320F	COL16A1_uc001btj.1_Missense_Mutation_p.V149F|COL16A1_uc001btl.3_Missense_Mutation_p.V320F	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	320	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCACCATGGACACAGGGCGGA	0.627		NA											12	46					3.07e-06	3.24e-06	1	0
EIF2C1	26523	broad.mit.edu	37	1	36384759	36384759	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:36384759G>T	uc001bzl.2	+	18	2582	c.2369G>T	c.(2368-2370)CGA>CTA	p.R790L	EIF2C1_uc001bzk.2_Missense_Mutation_p.R715L|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	790	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTACGTACGATGCACACGC	0.552		NA											17	35					4.76e-15	5.2e-15	1	0
MFSD2A	84879	broad.mit.edu	37	1	40422867	40422867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:40422867C>T	uc001cev.2	+	2	383	c.202C>T	c.(202-204)CAG>TAG	p.Q68*	MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Nonsense_Mutation_p.Q68*|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_RNA	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	68					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						TTTCTTCCTTCAGATCTACCT	0.527		NA											150	284					0	0	0	0
CCDC30	728621	broad.mit.edu	37	1	43021987	43021987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:43021987G>T	uc009vwk.1	+	5	696	c.586G>T	c.(586-588)GTG>TTG	p.V196L	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	196	Potential.										0						TGAGGAAATTGTGAGGCTTAG	0.463		NA											15	37					1.5e-05	1.58e-05	1	0
ERI3	79033	broad.mit.edu	37	1	44820585	44820585	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:44820585C>G	uc001clt.2	-	1	355	c.114G>C	c.(112-114)CCG>CCC	p.P38P	ERI3_uc010okv.1_5'Flank|ERI3_uc009vxg.2_Silent_p.P38P|ERI3_uc010okw.1_5'UTR|ERI3_uc001clu.2_5'UTR	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	38						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						GCCCCCAACTCGGGCCCATCC	0.697		NA											4	42					0	0	0	0
PTCH2	8643	broad.mit.edu	37	1	45296710	45296710	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:45296710C>T	uc010olf.1	-	6	635	c.623G>A	c.(622-624)CGC>CAC	p.R208H	PTCH2_uc010olg.1_Intron	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	208	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					GATATCCGGGCGGCCGCTGAG	0.612		NA							Basal_Cell_Nevus_syndrome				19	28					0	0	0	0
TMEM48	55706	broad.mit.edu	37	1	54233687	54233687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54233687C>T	uc001cvs.2	-	18	2222	c.1981G>A	c.(1981-1983)GAA>AAA	p.E661K	TMEM48_uc010onu.1_Missense_Mutation_p.E621K|TMEM48_uc001cvt.2_Missense_Mutation_p.E538K|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.E326K	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	661	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						TTCTGATGTTCTGCAGATGCT	0.338		NA											9	73					0	0	0	0
YIPF1	54432	broad.mit.edu	37	1	54332512	54332512	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54332512T>C	uc001cvu.2	-	8	904	c.567A>G	c.(565-567)AAA>AAG	p.K189K	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	189	Cytoplasmic (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						TGTTCATAACTTTGCTGTTTC	0.458		NA											8	82					0	0	0	0
SERBP1	26135	broad.mit.edu	37	1	67889986	67889986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:67889986G>A	uc001ddv.2	-	5	855	c.715C>T	c.(715-717)CAG>TAG	p.Q239*	SERBP1_uc001ddx.2_Nonsense_Mutation_p.Q233*|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	239					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						ATTTGTTTCTGAATGTATTTG	0.363		NA											10	117					0	0	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448482	89448482	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:89448482C>G	uc009wcx.2	-	3	1744	c.1028G>C	c.(1027-1029)AGA>ACA	p.R343T	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R343T	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	343	Ser-rich.						nucleotide binding|RNA binding				0						TCTTTCTTGTCTGCCAACCCT	0.512		NA											75	245					0	0	0	0
WDR77	79084	broad.mit.edu	37	1	111989744	111989744	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:111989744G>A	uc001ebb.2	-	4	505	c.466C>T	c.(466-468)CAG>TAG	p.Q156*	WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	156	WD 2.				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding				0		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCACCTGCTGAGCAAGGTCC	0.388		NA											31	116					0	0	0	0
CAPZA1	829	broad.mit.edu	37	1	113212164	113212164	+	Splice_Site	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:113212164G>T	uc001ecj.1	+	9	1050	c.658_splice	c.e9-1	p.N220_splice		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCATTAGAATGAAGCCC	0.299		NA											15	68					1.52e-12	1.65e-12	1	0
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:152278805G>T	uc001ezu.1	-	3	8593	c.8557C>A	c.(8557-8559)CAC>AAC	p.H2853N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.|Filaggrin 17.				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)			GACCCTGAGTGCCTGGAGCCG	0.572		NA							Ichthyosis				160	798					3.39e-80	3.81e-80	1	0
NUP210L	91181	broad.mit.edu	37	1	153984740	153984740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:153984740C>T	uc001fdw.2	-	34	4832	c.4760G>A	c.(4759-4761)AGA>AAA	p.R1587K	NUP210L_uc009woq.2_Missense_Mutation_p.R496K|NUP210L_uc010peh.1_Missense_Mutation_p.R1587K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1587						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACACCATTTCTGCCAGTGGT	0.383		NA											14	172					0	0	0	0
EFNA4	1945	broad.mit.edu	37	1	155039242	155039242	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155039242C>G	uc001fhd.2	+	2	237	c.150C>G	c.(148-150)CTC>CTG	p.L50L	EFNA3_uc010pew.1_Intron|EFNA4_uc001fhc.2_Silent_p.L50L|EFNA4_uc001fhe.2_Silent_p.L50L	NM_005227	NP_005218	P52798	EFNA4_HUMAN	ephrin A4 isoform a	50					cell-cell signaling	anchored to membrane|extracellular region|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity				0	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCTGGGCCTCAACGATTACC	0.627		NA											25	48					0	0	0	0
FDPS	2224	broad.mit.edu	37	1	155279994	155279994	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155279994G>A	uc001fkc.2	+	3	556	c.337G>A	c.(337-339)GAG>AAG	p.E113K	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E47K|FDPS_uc001fke.2_Missense_Mutation_p.E113K|FDPS_uc001fkf.2_Missense_Mutation_p.E47K	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	113					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCGGCTCAAGGAGGTGAGGGA	0.517		NA											9	67					0	0	0	0
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155838359G>A	uc001fmg.2	+	2	901	c.638G>A	c.(637-639)AGA>AAA	p.R213K	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	Cytoplasmic (Potential).|C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572		NA											5	144					0	0	0	0
SELL	6402	broad.mit.edu	37	1	169672451	169672451	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:169672451C>T	uc001ggk.2	-	6	1095	c.897G>A	c.(895-897)AAG>AAA	p.K299K	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.K252K|SELL_uc001ggl.1_Silent_p.K312K	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	299	Extracellular (Potential).|Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					AAATGGTTTTCTTCTTCCCAA	0.423		NA											3	51					0	0	0	0
SLC9A11	284525	broad.mit.edu	37	1	173552647	173552647	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:173552647C>G	uc001giz.2	-	6	1061	c.638G>C	c.(637-639)AGA>ACA	p.R213T	SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	213					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GCTCCTACCTCTAAAAATAGA	0.294		NA											8	104					0	0	0	0
SMG7	9887	broad.mit.edu	37	1	183511286	183511286	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:183511286C>T	uc001gqg.2	+	14	1613	c.1491C>T	c.(1489-1491)CCC>CCT	p.P497P	SMG7_uc010pob.1_Silent_p.P526P|SMG7_uc001gqf.2_Silent_p.P497P|SMG7_uc001gqh.2_Silent_p.P497P|SMG7_uc001gqi.2_Silent_p.P455P|SMG7_uc010poc.1_Silent_p.P455P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	497					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TGGAAGACCCCAGTGAAGCCA	0.418		NA											107	200					0	0	0	0
FAM58B	339521	broad.mit.edu	37	1	200183441	200183441	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:200183441G>C	uc009wzi.1	+	1	786	c.750G>C	c.(748-750)GAG>GAC	p.E250D		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	250					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					TAGACACAGAGATCCCCTAAG	0.532		NA											17	133					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215848781	215848781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:215848781G>A	uc001hku.1	-	63	12859	c.12472C>T	c.(12472-12474)CAG>TAG	p.Q4158*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4158	Extracellular (Potential).|Fibronectin type-III 27.				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)		GGAGCCAGCTGAGAGTCTGGA	0.532		NA								HNSCC(13;0.011)			6	70					0	0	0	0
MIA3	375056	broad.mit.edu	37	1	222801826	222801826	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:222801826G>C	uc001hnl.2	+	4	1273	c.1264G>C	c.(1264-1266)GAT>CAT	p.D422H	MIA3_uc009xea.1_Missense_Mutation_p.D258H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	422	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ATTAGTCCCAGATAGCAAACA	0.383		NA											16	144					0	0	0	0
GALNT2	2590	broad.mit.edu	37	1	230338990	230338990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:230338990G>A	uc010pwa.1	+	3	400	c.328G>A	c.(328-330)GAT>AAT	p.D110N	GALNT2_uc010pvy.1_Missense_Mutation_p.D72N|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	110	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGGAGAGTGATAAGCTTCG	0.547		NA											32	152					0	0	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435546	5435546	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5435546G>C	uc001ihy.2	-	4	1315	c.1275C>G	c.(1273-1275)TTC>TTG	p.F425L	TUBAL3_uc001ihz.2_Missense_Mutation_p.F385L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	425					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						TGGCCTCCAAGAACTCTGCTT	0.532		NA											12	92					0	0	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437411	5437411	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5437411G>A	uc001ihy.2	-	3	315	c.275C>T	c.(274-276)TCA>TTA	p.S92L	TUBAL3_uc001ihz.2_Missense_Mutation_p.S52L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	92					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						GTGGAAGAGTGAACGGTGCTG	0.592		NA											32	225					0	0	0	0
STAM	8027	broad.mit.edu	37	10	17730107	17730107	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:17730107C>G	uc001ipj.1	+	5	595	c.379C>G	c.(379-381)CTA>GTA	p.L127V	STAM_uc010qcf.1_Missense_Mutation_p.L16V	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	127	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						ACAGCTTAGTCTAATATCAGC	0.363		NA											11	256					0	0	0	0
PTCHD3	374308	broad.mit.edu	37	10	27700799	27700799	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:27700799C>T	uc001itu.2	-	2	1267	c.1149G>A	c.(1147-1149)GTG>GTA	p.V383V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	383	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ACACAGGGATCACAGTCACAG	0.358		NA											10	58					0	0	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748834	70748834	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70748834G>C	uc001joy.2	+	1	342	c.246G>C	c.(244-246)GAG>GAC	p.E82D		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	82					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						AGGTGGTGGAGCCCGAGGGGC	0.731		NA											3	46					0	0	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775627	70775627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70775627G>T	uc001joy.2	+	7	1417	c.1321G>T	c.(1321-1323)GAG>TAG	p.E441*		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	441					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						AACTGACATGGAGAGACGGTG	0.433		NA											64	127					6.56e-45	7.35e-45	1	0
SEC24C	9632	broad.mit.edu	37	10	75529650	75529650	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:75529650G>T	uc001juw.2	+	21	2918	c.2739G>T	c.(2737-2739)AAG>AAT	p.K913N	SEC24C_uc001jux.2_Missense_Mutation_p.K913N|SEC24C_uc010qko.1_Missense_Mutation_p.K794N|SEC24C_uc010qkp.1_Missense_Mutation_p.K161N|SEC24C_uc010qkq.1_Missense_Mutation_p.K161N|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	913					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					GTGTGTTGAAGAGTGATGTCC	0.463		NA											46	266					1.57e-16	1.72e-16	1	0
POLR3A	11128	broad.mit.edu	37	10	79753020	79753020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:79753020C>G	uc001jzn.2	-	20	2816	c.2722G>C	c.(2722-2724)GAT>CAT	p.D908H		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	908					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)			GCTGCAGGATCTAAGCCATCT	0.413		NA											19	228					0	0	0	0
LRIT2	340745	broad.mit.edu	37	10	85982250	85982250	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:85982250G>C	uc001kcy.2	-	3	1087	c.1079C>G	c.(1078-1080)TCG>TGG	p.S360W	LRIT2_uc010qmc.1_Missense_Mutation_p.S370W	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	360						integral to membrane				ovary(2)	2						ATTGCCCTCCGAGGGGATGGA	0.552		NA											3	61					0	0	0	0
WAPAL	23063	broad.mit.edu	37	10	88260338	88260338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:88260338G>A	uc001kdo.2	-	3	1104	c.662C>T	c.(661-663)TCA>TTA	p.S221L	WAPAL_uc001kdn.2_Missense_Mutation_p.S264L|WAPAL_uc009xsw.2_Missense_Mutation_p.S221L	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	221	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TTCTGATGGTGATTCTGGCCT	0.373		NA											39	335					0	0	0	0
RPP30	10556	broad.mit.edu	37	10	92655643	92655643	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:92655643G>C	uc009xtx.2	+	9	621	c.586G>C	c.(586-588)GAA>CAA	p.E196Q	RPP30_uc001khd.2_Missense_Mutation_p.E196Q	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						TCAGCCTTTAGAAATAAGAGG	0.274		NA											15	127					0	0	0	0
LOC729020	729020	broad.mit.edu	37	10	105006203	105006203	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:105006203G>A	uc009xxi.2	+	1	560	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q	uc001kwr.2_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	rcRPE protein	150					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity				0						TTGGAGAGCAGAAATTCATGG	0.473		NA											15	123					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	607897	607897	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:607897C>T	uc001lqe.2	+	14	2572	c.2441C>T	c.(2440-2442)TCA>TTA	p.S814L	PHRF1_uc010qwc.1_Missense_Mutation_p.S813L|PHRF1_uc010qwd.1_Missense_Mutation_p.S812L|PHRF1_uc010qwe.1_Missense_Mutation_p.S810L|PHRF1_uc009ybz.1_Missense_Mutation_p.S604L|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	814							RNA polymerase binding|zinc ion binding				0						GAGAACCCCTCACCCCTCTTC	0.617		NA											8	145					0	0	0	0
DEAF1	10522	broad.mit.edu	37	11	687928	687928	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:687928T>A	uc001lqq.1	-	4	1340	c.647A>T	c.(646-648)AAG>ATG	p.K216M	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	216	SAND.				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)		GAGCCTGTTCTTGTACAGAGT	0.522		NA											17	84					0	0	0	0
TRPM5	29850	broad.mit.edu	37	11	2434782	2434782	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:2434782C>T	uc001lwm.3	-	13	1936	c.1927G>A	c.(1927-1929)GCA>ACA	p.A643T	TRPM5_uc010qxl.1_Missense_Mutation_p.A643T|TRPM5_uc009ydn.2_Missense_Mutation_p.A645T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	643	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGTGCCTGCGGCCATGTCC	0.647		NA											6	31					0	0	0	0
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:4904108G>A	uc010qyp.1	+	1	1060	c.1060G>A	c.(1060-1062)GAT>AAT	p.D354N		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	327	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468		NA											13	84					0	0	0	0
OR51L1	119682	broad.mit.edu	37	11	5020494	5020494	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:5020494C>T	uc010qyu.1	+	1	282	c.282C>T	c.(280-282)ATC>ATT	p.I94I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAGAGATCCAGGCAAGTG	0.478		NA											98	192					0	0	0	0
SWAP70	23075	broad.mit.edu	37	11	9735026	9735026	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9735026T>C	uc001mhw.2	+	3	353	c.254T>C	c.(253-255)TTT>TCT	p.F85S	SWAP70_uc001mhv.2_Missense_Mutation_p.F85S|SWAP70_uc001mhx.2_Intron	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	85						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAAGACAACTTTGACAAGATT	0.358		NA											47	86					0	0	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077743	19077743	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:19077743G>T	uc001mph.2	-	2	295	c.207C>A	c.(205-207)CTC>CTA	p.L69L		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	69	Helical; Name=2; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						CGGCCAGGCTGAGGACGTAGA	0.537		NA											13	123					6.32e-08	6.74e-08	1	0
CCDC73	493860	broad.mit.edu	37	11	32675537	32675537	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:32675537T>G	uc001mtv.2	-	11	865	c.821A>C	c.(820-822)CAA>CCA	p.Q274P	CCDC73_uc001mtw.1_Missense_Mutation_p.Q274P	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	274	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					TTTTTCTTCTTGAATATGGGT	0.219		NA											12	25					0	0	0	0
TTC17	55761	broad.mit.edu	37	11	43419614	43419614	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:43419614G>A	uc001mxi.2	+	8	1023	c.1009G>A	c.(1009-1011)GCT>ACT	p.A337T	TTC17_uc001mxh.2_Missense_Mutation_p.A337T|TTC17_uc010rfj.1_Missense_Mutation_p.A280T|TTC17_uc001mxj.2_Missense_Mutation_p.A107T	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	337							binding			ovary(5)	5						GAGGAAGCATGCTGTCCTATG	0.453		NA											31	74					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62286923	62286923	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62286923G>C	uc001ntl.2	-	5	15266	c.14966C>G	c.(14965-14967)GCT>GGT	p.A4989G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4989					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTGATGTCAGCTTTGGGGCT	0.453		NA											12	203					0	0	0	0
SLC3A2	6520	broad.mit.edu	37	11	62656097	62656097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62656097C>G	uc001nwd.2	+	12	2049	c.1825C>G	c.(1825-1827)CTT>GTT	p.L609V	SLC3A2_uc001nwb.2_Missense_Mutation_p.L640V|SLC3A2_uc001nwc.2_Missense_Mutation_p.L610V|SLC3A2_uc001nwe.2_Missense_Mutation_p.L578V|SLC3A2_uc001nwf.2_Missense_Mutation_p.L547V|SLC3A2_uc001nwg.2_Missense_Mutation_p.L508V	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	609	Extracellular (Potential).			L -> P (in Ref. 4; AAA35536).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0						GGGCTCCCCTCTTGAGCTGGA	0.667		NA											63	119					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170534	70170534	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:70170534C>T	uc001opo.2	+	3	489	c.291C>T	c.(289-291)CTC>CTT	p.L97L	PPFIA1_uc001opn.1_Silent_p.L97L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	97	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAAAGAACTCAATGTATGCA	0.403		NA											20	341					0	0	0	0
EED	8726	broad.mit.edu	37	11	85979511	85979511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:85979511C>T	uc001pbp.2	+	9	1331	c.874C>T	c.(874-876)CAG>TAG	p.Q292*	EED_uc010rtm.1_Nonsense_Mutation_p.Q292*|EED_uc001pbq.2_Nonsense_Mutation_p.Q292*|EED_uc001pbr.2_Nonsense_Mutation_p.Q292*|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	292	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			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATTTATTTCTCAGAAAATCCA	0.299		NA											71	71					0	0	0	0
GRM5	2915	broad.mit.edu	37	11	88300894	88300894	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:88300894G>C	uc001pcq.2	-	7	2157	c.1957C>G	c.(1957-1959)CTC>GTC	p.L653V	GRM5_uc009yvm.2_Missense_Mutation_p.L653V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	653	Helical; Name=3; (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGGGGAGAGACCAATGCCA	0.493		NA											16	12					0	0	0	0
CBL	867	broad.mit.edu	37	11	119103214	119103214	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:119103214C>T	uc001pwe.2	+	2	390	c.252C>T	c.(250-252)ATC>ATT	p.I84I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	84	Cbl-PTB.|4H.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACCTTATATCTTAGACCTGC	0.428		NA							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				7	67					0	0	0	0
TECTA	7007	broad.mit.edu	37	11	120998984	120998984	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:120998984G>A	uc010rzo.1	+	8	2298	c.2298G>A	c.(2296-2298)CTG>CTA	p.L766L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	766	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCTTGGCTGCGGGGACTTC	0.587		NA											21	63					0	0	0	0
SLC6A13	6540	broad.mit.edu	37	12	351877	351877	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:351877G>C	uc001qic.1	-	4	434	c.381C>G	c.(379-381)GTC>GTG	p.V127V	SLC6A13_uc009zdj.1_Silent_p.V127V|SLC6A13_uc010sdl.1_Intron|SLC6A13_uc010sdm.1_Silent_p.V8V	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	127	Helical; Name=3; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGATGTAGTAGACGTTGAGGA	0.512		NA											4	11					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7556331	7556331	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:7556331G>A	uc001qsy.2	-	6	1234	c.1208C>T	c.(1207-1209)GCC>GTC	p.A403V	CD163L1_uc010sge.1_Missense_Mutation_p.A413V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	403	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						AACCACAAGGGCTTGTTCATT	0.443		NA											86	137					0	0	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196363	8196363	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:8196363G>A	uc001qtu.2	+	4	1560	c.475G>A	c.(475-477)GAT>AAT	p.D159N	FOXJ2_uc001qtt.1_Missense_Mutation_p.D159N	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	159					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		TCCAGATGATGATGTAAGTTC	0.493		NA											19	268					0	0	0	0
KLRG1	10219	broad.mit.edu	37	12	9161668	9161668	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:9161668C>T	uc001qvh.2	+	4	466	c.455C>T	c.(454-456)TCA>TTA	p.S152L	KLRG1_uc001qvg.2_Missense_Mutation_p.S152L	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	152	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						CTAAACTTCTCAAGGTAAGGG	0.289		NA											18	24					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12312019	12312019	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:12312019G>C	uc001rah.3	-	12	2677	c.2535C>G	c.(2533-2535)ATC>ATG	p.I845M	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.I845M	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	845	Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CCGTCCAGTAGATATAATCTT	0.483		NA											16	41					0	0	0	0
ATF7IP	55729	broad.mit.edu	37	12	14649234	14649234	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:14649234G>A	uc001rbw.2	+	14	3508	c.3350G>A	c.(3349-3351)GGA>GAA	p.G1117E	ATF7IP_uc001rbx.2_Missense_Mutation_p.G1116E|ATF7IP_uc001rby.3_Missense_Mutation_p.G1117E|ATF7IP_uc001rca.2_Missense_Mutation_p.G1117E	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1117					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GGATCAACAGGACCTCAGCTC	0.388		NA											16	33					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20806970	20806970	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:20806970C>G	uc001reh.1	+	15	3037	c.3015C>G	c.(3013-3015)ATC>ATG	p.I1005M		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1005	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AATCCTTCATCTCTCACATTG	0.498		NA											11	75					0	0	0	0
C12orf41	54934	broad.mit.edu	37	12	49075374	49075374	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49075374C>A	uc001rrx.2	-	2	117	c.42G>T	c.(40-42)GGG>GGT	p.G14G	C12orf41_uc001rrw.2_5'Flank|C12orf41_uc001rrz.2_Silent_p.G197G|C12orf41_uc001rry.2_RNA	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	14										ovary(2)	2						GAGTGATCCTCCCCCGATTGG	0.517		NA											12	86					7.93e-07	8.41e-07	1	0
CACNB3	784	broad.mit.edu	37	12	49219528	49219528	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49219528C>T	uc001rsl.1	+	9	919	c.718C>T	c.(718-720)CGC>TGC	p.R240C	CACNB3_uc010sly.1_Missense_Mutation_p.R227C|CACNB3_uc010slz.1_Missense_Mutation_p.R239C|CACNB3_uc001rsk.1_Missense_Mutation_p.R87C	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	240					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	CATCATTGAGCGCTCCTCTGC	0.567		NA											20	77					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49443980	49443980	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49443980G>C	uc001rta.3	-	11	3391	c.3391C>G	c.(3391-3393)CCG>GCG	p.P1131A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1131	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTGAACCCGGAGCATCAATC	0.637		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			22	30					0	0	0	0
ESPL1	9700	broad.mit.edu	37	12	53687204	53687204	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:53687204G>C	uc001sck.2	+	31	6400	c.6309G>C	c.(6307-6309)AAG>AAC	p.K2103N	ESPL1_uc001scj.2_Missense_Mutation_p.K1778N|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	2103					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CCCGACTCAAGTATCTTATTG	0.557		NA											21	89					0	0	0	0
OBFC2B	79035	broad.mit.edu	37	12	56620162	56620162	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56620162C>T	uc001ski.2	+	6	519	c.395C>T	c.(394-396)TCA>TTA	p.S132L	OBFC2B_uc001skk.2_Missense_Mutation_p.S157L|OBFC2B_uc001skj.2_Missense_Mutation_p.S148L	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	132					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						AGCAACCCTTCAGCTTCCCAG	0.537		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					25	143					0	0	0	0
GLS2	27165	broad.mit.edu	37	12	56865620	56865620	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56865620C>T	uc001slj.2	-	17	1868	c.1589G>A	c.(1588-1590)GGA>GAA	p.G530E	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.G265E|GLS2_uc009zot.2_Missense_Mutation_p.G191E	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	530	ANK 1.				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCGATGTGTCCTAGGAATAT	0.483		NA											69	150					0	0	0	0
NAB2	4665	broad.mit.edu	37	12	57485044	57485044	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:57485044G>C	uc001smz.2	+	2	598	c.220G>C	c.(220-222)GAG>CAG	p.E74Q		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	74	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GCAGCTGTGTGAGGCGGGTGA	0.632		NA											25	219					0	0	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:63974572G>C	uc001srp.1	-	19	1951	c.1770C>G	c.(1768-1770)ATC>ATG	p.I590M	DPY19L2_uc010sso.1_Missense_Mutation_p.I37M	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	590					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373		NA											29	86					0	0	0	0
LRRC10	376132	broad.mit.edu	37	12	70004349	70004349	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:70004349C>A	uc001svc.2	-	1	594	c.270G>T	c.(268-270)CTG>CTT	p.L90L		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	90	LRR 2.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCACCTGGGGCAGAGCCTTGA	0.562		NA											23	56					3.62e-10	3.9e-10	1	0
NUP37	79023	broad.mit.edu	37	12	102492898	102492898	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:102492898G>A	uc001tjc.2	-	4	500	c.435C>T	c.(433-435)GAC>GAT	p.D145D	NUP37_uc009zub.1_Silent_p.D145D	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	145	WD 2.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						AGGTGTGATCGTCACTCACAC	0.343		NA											34	62					0	0	0	0
CRY1	1407	broad.mit.edu	37	12	107393468	107393468	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:107393468C>T	uc001tmi.3	-	7	1857	c.998G>A	c.(997-999)GGC>GAC	p.G333D		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	333	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						GCCTGTCCGGCCTTCCGCCCA	0.473		NA											27	45					0	0	0	0
TCTN1	79600	broad.mit.edu	37	12	111078307	111078307	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111078307G>C	uc009zvs.2	+	8	1071	c.963G>C	c.(961-963)GTG>GTC	p.V321V	TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.V261V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Silent_p.V307V|TCTN1_uc001trn.3_Silent_p.V321V|TCTN1_uc001trj.1_Silent_p.V265V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 2	321					multicellular organismal development	extracellular region					0						GCCTTTGCGTGAATGTTGTTC	0.542		NA											16	101					0	0	0	0
CCDC63	160762	broad.mit.edu	37	12	111336787	111336787	+	Silent	SNP	C	C	T	rs141258896		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111336787C>T	uc001trv.1	+	10	1395	c.1200C>T	c.(1198-1200)TAC>TAT	p.Y400Y	CCDC63_uc010sye.1_Silent_p.Y360Y|CCDC63_uc001trw.1_Silent_p.Y315Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	400	Potential.									skin(6)|ovary(1)|pancreas(1)	8						AGAGCAAGTACGGGGAGGTCA	0.512		NA											16	74					0	0	0	0
CCDC63	160762	broad.mit.edu	37	12	111345227	111345227	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111345227A>G	uc001trv.1	+	12	1834	c.1639A>G	c.(1639-1641)AGC>GGC	p.S547G	CCDC63_uc010sye.1_Missense_Mutation_p.S507G|CCDC63_uc001trw.1_Missense_Mutation_p.S462G	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	547										skin(6)|ovary(1)|pancreas(1)	8						GCGCGGAGACAGCCTGCCTGA	0.517		NA											7	50					0	0	0	0
CCDC64	92558	broad.mit.edu	37	12	120530923	120530923	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:120530923C>T	uc001txl.1	+	9	1705	c.1680C>T	c.(1678-1680)ATC>ATT	p.I560I	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Silent_p.I231I|CCDC64_uc010szf.1_Silent_p.I257I	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	560					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCCAGCATCGCTGAAGGCA	0.602		NA											5	35					0	0	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950297	123950297	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:123950297C>G	uc001ufb.1	+	2	326	c.210C>G	c.(208-210)GTC>GTG	p.V70V	SNRNP35_uc010tar.1_Silent_p.V75V|SNRNP35_uc009zxz.2_Silent_p.V75V|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	70	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0						TAAAGGAAGTCTTTTCCCGCT	0.517		NA											27	46					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126135268	126135268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:126135268G>C	uc001uhe.1	+	7	1676	c.1668G>C	c.(1666-1668)AAG>AAC	p.K556N	TMEM132B_uc001uhf.1_Missense_Mutation_p.K68N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	556	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)		ATGAGGAGAAGAAGGGACGAG	0.552		NA											4	103					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566558	129566558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:129566558C>G	uc009zyl.1	-	7	1997	c.1669G>C	c.(1669-1671)GAG>CAG	p.E557Q	TMEM132D_uc001uia.2_Missense_Mutation_p.E95Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	557	Extracellular (Potential).					integral to membrane		p.E557E(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTCCTCCTCTTCACTGTCC	0.642		NA											18	96					0	0	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306305	133306305	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:133306305C>G	uc001ukx.2	-	11	2510	c.2443G>C	c.(2443-2445)GAG>CAG	p.E815Q	ANKLE2_uc009zyw.1_Missense_Mutation_p.E170Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	815						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGGTGACCTCGAGCTGATCC	0.448		NA											10	154					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32818298	32818298	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:32818298G>C	uc001utx.2	+	47	7303	c.6807G>C	c.(6805-6807)AAG>AAC	p.K2269N	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGTTCTGAAGACAATTGAAA	0.438		NA											23	115					0	0	0	0
UGGT2	55757	broad.mit.edu	37	13	96592328	96592328	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:96592328C>G	uc001vmt.2	-	16	1865	c.1695G>C	c.(1693-1695)AAG>AAC	p.K565N		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	565					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTTGATCCTTCTTCACTTTTT	0.279		NA											5	126					0	0	0	0
NALCN	259232	broad.mit.edu	37	13	101756771	101756771	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:101756771C>T	uc001vox.1	-	25	2953	c.2764G>A	c.(2764-2766)GAG>AAG	p.E922K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	922	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACACATACTCAGCAATCTGA	0.423		NA											6	101					0	0	0	0
OR4N2	390429	broad.mit.edu	37	14	20295739	20295739	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20295739C>T	uc010tkv.1	+	1	132	c.132C>T	c.(130-132)CTC>CTT	p.L44L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAATTTTCTCATTATTTTCA	0.448		NA											118	271					0	0	0	0
OR4K15	81127	broad.mit.edu	37	14	20444245	20444245	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20444245C>G	uc010tkx.1	+	1	568	c.568C>G	c.(568-570)CTG>GTG	p.L190V		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTGTTAATCTGCCATTTTG	0.438		NA											78	219					0	0	0	0
TOX4	9878	broad.mit.edu	37	14	21963395	21963395	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:21963395C>G	uc001waz.2	+	8	1752	c.1649C>G	c.(1648-1650)TCT>TGT	p.S550C	TOX4_uc001way.2_Missense_Mutation_p.S420C|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.S527C|TOX4_uc010tlv.1_Missense_Mutation_p.S420C	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	550						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGGTTGAGTCTCCTTCTCAG	0.483		NA											63	168					0	0	0	0
DLGAP5	9787	broad.mit.edu	37	14	55625360	55625360	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55625360C>G	uc001xbs.2	-	14	1970	c.1753G>C	c.(1753-1755)GAG>CAG	p.E585Q	DLGAP5_uc001xbt.2_Missense_Mutation_p.E585Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	585					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						CTAATTCTCTCTCTCATTGCA	0.393		NA											40	87					0	0	0	0
DLGAP5	9787	broad.mit.edu	37	14	55643828	55643828	+	Missense_Mutation	SNP	T	T	C	rs139172891		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55643828T>C	uc001xbs.2	-	8	1218	c.1001A>G	c.(1000-1002)AAT>AGT	p.N334S	DLGAP5_uc001xbt.2_Missense_Mutation_p.N334S	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	334					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2						CAAAAAAGCATTGGCACTTCT	0.378		NA											30	64					0	0	0	0
SPTB	6710	broad.mit.edu	37	14	65233386	65233386	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:65233386G>C	uc001xht.2	-	31	6457	c.6403C>G	c.(6403-6405)CAC>GAC	p.H2135D	SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.H2135D|SPTB_uc010aqi.2_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	2135					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTAGGGGTGAGAGGGCTCT	0.652		NA											41	233					0	0	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256568	69256568	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69256568G>A	uc001xkh.1	-	2	829	c.699C>T	c.(697-699)AGC>AGT	p.S233S	ZFP36L1_uc001xki.1_Silent_p.S233S	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	233					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCATCGGCGCTCAGAATAG	0.522		NA									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	269					0	0	0	0
DCAF5	8816	broad.mit.edu	37	14	69520744	69520744	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69520744C>T	uc001xkp.2	-	9	2878	c.2659G>A	c.(2659-2661)GAA>AAA	p.E887K	DCAF5_uc001xkq.2_Missense_Mutation_p.E886K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	887						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						CAGGCCATTTCAGACCCGCAA	0.567		NA											19	193					0	0	0	0
SFRS5	6430	broad.mit.edu	37	14	70235606	70235606	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:70235606G>A	uc001xll.2	+	5	1740	c.289G>A	c.(289-291)GAT>AAT	p.D97N	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.D97N|SFRS5_uc001xlo.2_Missense_Mutation_p.D97N|SFRS5_uc001xlp.2_Missense_Mutation_p.D97N|SFRS5_uc001xlq.2_Missense_Mutation_p.D94N	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	97					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		ACCTCGAAATGATAGACGGTA	0.453		NA											28	108					0	0	0	0
PCNX	22990	broad.mit.edu	37	14	71485846	71485846	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:71485846C>T	uc001xmo.2	+	12	3563	c.3117C>T	c.(3115-3117)CTC>CTT	p.L1039L	PCNX_uc010are.1_Silent_p.L928L|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1039	Helical; (Potential).					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTTCTGCCTCGTCATAGCCA	0.423		NA											48	323					0	0	0	0
STON2	85439	broad.mit.edu	37	14	81743806	81743806	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743806C>T	uc010tvu.1	-	4	2050	c.1849G>A	c.(1849-1851)GAC>AAC	p.D617N	STON2_uc001xvk.1_Missense_Mutation_p.D617N|STON2_uc010tvt.1_Missense_Mutation_p.D414N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	617	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGAGGATGTCATTGAGGCCC	0.532		NA											17	142					0	0	0	0
STON2	85439	broad.mit.edu	37	14	81743896	81743896	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743896C>T	uc010tvu.1	-	4	1960	c.1759G>A	c.(1759-1761)GAC>AAC	p.D587N	STON2_uc001xvk.1_Missense_Mutation_p.D587N|STON2_uc010tvt.1_Missense_Mutation_p.D384N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	587	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGGTTGTCTCCTTTGCTC	0.507		NA											14	152					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94103615	94103615	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:94103615G>C	uc001ybv.1	+	31	5505	c.5422G>C	c.(5422-5424)GAC>CAC	p.D1808H	KIAA1409_uc001ybs.1_Missense_Mutation_p.D1786H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1963						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		cctaaaccctgacctggaggg	0		NA											15	56					0	0	0	0
BDKRB1	623	broad.mit.edu	37	14	96730571	96730571	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96730571G>C	uc001yfh.2	+	3	760	c.552G>C	c.(550-552)CTG>CTC	p.L184L	BDKRB1_uc010avn.2_Silent_p.L184L	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	184	Extracellular (Potential).				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			ovary(3)	3		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCCAGATCTGAACATCACCG	0.592		NA											32	175					0	0	0	0
ATG2B	55102	broad.mit.edu	37	14	96777489	96777489	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96777489C>T	uc001yfi.2	-	28	4491	c.4126G>A	c.(4126-4128)GAT>AAT	p.D1376N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1376										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTCATATCTGCCTTGTTA	0.448		NA											35	347					0	0	0	0
RTF1	23168	broad.mit.edu	37	15	41762577	41762577	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:41762577G>T	uc001zny.2	+	7	1024	c.1012G>T	c.(1012-1014)GAT>TAT	p.D338Y		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	338	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCATCGTCTGATGAAGAAGA	0.443		NA											41	369					9.39e-22	1.04e-21	1	0
TP53BP1	7158	broad.mit.edu	37	15	43749026	43749026	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:43749026C>G	uc001zrs.2	-	12	1913	c.1765G>C	c.(1765-1767)GAT>CAT	p.D589H	TP53BP1_uc010udp.1_Missense_Mutation_p.D589H|TP53BP1_uc001zrq.3_Missense_Mutation_p.D594H|TP53BP1_uc001zrr.3_Missense_Mutation_p.D594H|TP53BP1_uc010udq.1_Missense_Mutation_p.D594H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGTATCATCTCCCTTTGTT	0.403		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					70	156					0	0	0	0
FBN1	2200	broad.mit.edu	37	15	48796097	48796097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:48796097C>G	uc001zwx.1	-	17	2328	c.2000G>C	c.(1999-2001)AGA>ACA	p.R667T		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	667	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)		ACACTGGCCTCTCTTGTATCC	0.488		NA											13	112					0	0	0	0
SHC4	399694	broad.mit.edu	37	15	49176472	49176472	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:49176472G>T	uc001zxb.1	-	4	1242	c.813C>A	c.(811-813)CTC>CTA	p.L271L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	271	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATCAATGTGAGACTGCATG	0.338		NA											18	63					2.94e-08	3.15e-08	1	0
USP3	9960	broad.mit.edu	37	15	63866568	63866568	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63866568G>T	uc002amf.2	+	11	1191	c.1062G>T	c.(1060-1062)AAG>AAT	p.K354N	USP3_uc010uii.1_RNA|USP3_uc002amg.2_Missense_Mutation_p.K269N|USP3_uc002amh.2_Missense_Mutation_p.K332N|USP3_uc010uij.1_Missense_Mutation_p.K310N|USP3_uc010uik.1_Missense_Mutation_p.K105N|USP3_uc010bgs.2_Missense_Mutation_p.K337N|USP3_uc002ami.2_Missense_Mutation_p.K185N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	354					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		AGCGCTCTAAGAATCAAGAAA	0.323		NA											4	77					0.00116845	0.00120958	1	0
HERC1	8925	broad.mit.edu	37	15	63966767	63966767	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63966767T>A	uc002amp.2	-	38	7768	c.7620A>T	c.(7618-7620)GAA>GAT	p.E2540D		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2540					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						TGTGGCCATTTTCAGCCAGAA	0.483		NA											9	18					0	0	0	0
IGDCC4	57722	broad.mit.edu	37	15	65702644	65702644	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:65702644G>C	uc002aou.1	-	3	645	c.435C>G	c.(433-435)TTC>TTG	p.F145L		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	145	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGTGCAGAGAGAAGTCTGCGA	0.557		NA											15	113					0	0	0	0
RPL4	6124	broad.mit.edu	37	15	66791763	66791763	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:66791763C>T	uc002apv.2	-	10	1322	c.1266G>A	c.(1264-1266)GAG>GAA	p.E422E	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.E328E|RPL4_uc002apw.2_Silent_p.E328E|RPL4_uc002apx.2_Silent_p.E328E	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	422	Lys-rich.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CAGGCTTCTTCTCCTCTGTAG	0.413		NA											9	156					0	0	0	0
HCN4	10021	broad.mit.edu	37	15	73659999	73659999	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73659999C>T	uc002avp.2	-	1	1607	c.613G>A	c.(613-615)GAG>AAG	p.E205K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	205	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		AGGCGCACCTCGGCCTCCGGG	0.682		NA											7	61					0	0	0	0
NPTN	27020	broad.mit.edu	37	15	73862516	73862516	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73862516C>T	uc002avs.2	-	6	1286	c.1089G>A	c.(1087-1089)AGG>AGA	p.R363R	NPTN_uc010bjc.2_Silent_p.R363R|NPTN_uc002avt.2_Silent_p.R247R|NPTN_uc002avr.2_Silent_p.R247R|NPTN_uc010ula.1_Silent_p.R158R	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	363	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CTGGCCTCTTCCTCTTCTCAT	0.512		NA											42	285					0	0	0	0
ETFA	2108	broad.mit.edu	37	15	76584999	76584999	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:76584999G>T	uc002bbt.2	-	3	310	c.229C>A	c.(229-231)CTG>ATG	p.L77M	ETFA_uc010bkq.1_Missense_Mutation_p.L28M|ETFA_uc002bbu.1_Missense_Mutation_p.L77M	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0						TGAGCCACCAGAACTTTTGCT	0.358		NA											33	176					1.6e-16	1.76e-16	1	0
LINGO1	84894	broad.mit.edu	37	15	77906720	77906720	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:77906720G>A	uc002bct.1	-	2	1581	c.1529C>T	c.(1528-1530)GCC>GTC	p.A510V	LINGO1_uc002bcu.1_Missense_Mutation_p.A504V	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	510	Extracellular (Potential).|Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						ATGCAGGTGGGCGGGCATGGA	0.657		NA											21	71					0	0	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058055	79058055	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:79058055C>T	uc002bej.3	-	19	4409	c.4198G>A	c.(4198-4200)GAA>AAA	p.E1400K	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1400					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GGCCCCGCTTCAGCCAGGCTG	0.692		NA											15	154					0	0	0	0
MSLNL	401827	broad.mit.edu	37	16	823207	823207	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:823207G>T	uc002cjz.1	-	10	2061	c.2061C>A	c.(2059-2061)CTC>CTA	p.L687L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	336	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGTTGGTTCTGAGGATGCAGC	0.627		NA											11	137					1.62e-10	1.75e-10	1	0
C16orf42	115939	broad.mit.edu	37	16	1400230	1400230	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1400230G>C	uc002cll.2	-	4	600	c.532C>G	c.(532-534)CCA>GCA	p.P178A	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	178					rRNA processing						0		Hepatocellular(780;0.0893)				GCAAGGTCTGGAAAGCCTGAC	0.592		NA											5	47					0	0	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706343	1706343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1706343G>A	uc010uvh.1	+	9	1585	c.1585G>A	c.(1585-1587)GAA>AAA	p.E529K	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	529						nucleus	DNA binding				0						GACCCCTGCAGAAGGCAGGGA	0.677		NA											10	19					0	0	0	0
CP110	9738	broad.mit.edu	37	16	19543747	19543747	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:19543747G>C	uc002dgl.3	+	3	398	c.151G>C	c.(151-153)GAG>CAG	p.E51Q	CP110_uc002dgk.3_Missense_Mutation_p.E51Q			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	51	Potential.|CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						GCTTAACATTGAGAAAAGAAA	0.343		NA											16	66					0	0	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884920	29884920	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:29884920G>A	uc002duq.3	-	13	2475	c.2235C>T	c.(2233-2235)CTC>CTT	p.L745L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.L675L|SEZ6L2_uc002dur.3_Silent_p.L675L|SEZ6L2_uc002dus.3_Silent_p.L631L|SEZ6L2_uc010vec.1_Silent_p.L745L|SEZ6L2_uc010ved.1_Silent_p.L701L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	745	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TGTAGCAGGTGAGCATGGCTG	0.687		NA											11	65					0	0	0	0
MYLPF	29895	broad.mit.edu	37	16	30387201	30387201	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30387201T>C	uc002dxv.1	+	2	120	c.64T>C	c.(64-66)TTC>CTC	p.F22L		NM_013292	NP_037424	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast	22					skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle				0			Colorectal(24;0.193)			CTTCTCCATGTTCGACCAGAC	0.592		NA											11	41					0	0	0	0
PRR14	78994	broad.mit.edu	37	16	30666893	30666894	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666893_30666894TG>AA	uc002dyy.2	+	10	1643_1644	c.1385_1386TG>AA	c.(1384-1386)ATG>AAA	p.M462K	PRR14_uc002dyz.2_Missense_Mutation_p.M307K|PRR14_uc002dza.2_Missense_Mutation_p.M462K	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	462											0			Colorectal(24;0.103)			CTTACACCAATGGGACTGCCTC	0.52		NA											7	39					0	0	0	0
PHKG2	5261	broad.mit.edu	37	16	30767526	30767526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30767526C>G	uc002dzk.1	+	7	673	c.580C>G	c.(580-582)CTA>GTA	p.L194V	PHKG2_uc002dzi.1_Missense_Mutation_p.L194V|PHKG2_uc002dzj.1_Missense_Mutation_p.L92V	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	194	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CCCAGGGTATCTAGCGCCAGA	0.597		NA											77	183					0	0	0	0
NLRC5	84166	broad.mit.edu	37	16	57060138	57060138	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:57060138C>T	uc002ekk.1	+	6	1508	c.1283C>T	c.(1282-1284)TCT>TTT	p.S428F	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.S233F|NLRC5_uc002ekl.2_Missense_Mutation_p.S233F|NLRC5_uc002ekm.2_Missense_Mutation_p.S233F|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	428	NACHT.				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)				CCAGGCCAGTCTGTGGCCCTC	0.637		NA											72	111					0	0	0	0
CHST5	23563	broad.mit.edu	37	16	75563052	75563052	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563052C>G	uc002fei.2	-	3	2626	c.1231G>C	c.(1231-1233)GAC>CAC	p.D411H	CHST5_uc002fej.1_Missense_Mutation_p.D417H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	411	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AGTTCTCAGTCAGGCGATGCC	0.662		NA											14	28					0	0	0	0
CHST5	23563	broad.mit.edu	37	16	75563522	75563522	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563522C>G	uc002fei.2	-	3	2156	c.761G>C	c.(760-762)TGG>TCG	p.W254S	CHST5_uc002fej.1_Missense_Mutation_p.W260S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	254	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GGCCTCCACCCACTTGCCGTT	0.731		NA											31	68					0	0	0	0
KIAA0664	23277	broad.mit.edu	37	17	2600219	2600219	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:2600219T>A	uc002fuy.1	-	11	1951	c.1865A>T	c.(1864-1866)AAG>ATG	p.K622M	KIAA0664_uc002fux.1_Missense_Mutation_p.K554M|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	622							binding			breast(2)	2						GGCGGCCAGCTTCATAAAGAG	0.627		NA											6	8					0	0	0	0
P2RX1	5023	broad.mit.edu	37	17	3803019	3803019	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:3803019C>T	uc002fww.2	-	8	1225	c.784G>A	c.(784-786)GAC>AAC	p.D262N		NM_002558	NP_002549	P51575	P2RX1_HUMAN	purinergic receptor P2X1	262	Extracellular (Potential).				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGTCCAGGTCACAGTGCCAG	0.512		NA											7	109					0	0	0	0
ZZEF1	23140	broad.mit.edu	37	17	4015950	4015950	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4015950A>C	uc002fxe.2	-	5	1083	c.1019T>G	c.(1018-1020)GTC>GGC	p.V340G	ZZEF1_uc002fxk.1_Missense_Mutation_p.V340G	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	340	DOC.						calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						ATAGCCAGTGACATTGCTGGG	0.512		NA											31	69					0	0	0	0
ALOX15	246	broad.mit.edu	37	17	4542786	4542786	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4542786G>A	uc002fyh.2	-	2	290	c.276C>T	c.(274-276)GTC>GTT	p.V92V	ALOX15_uc010vsd.1_Silent_p.V53V|ALOX15_uc010vse.1_Silent_p.V114V	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	92	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGGGAACCTGACCTCGTCCC	0.647		NA											19	85					0	0	0	0
SPAG7	9552	broad.mit.edu	37	17	4862900	4862900	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862900C>T	uc002gae.2	-	7	646	c.613G>A	c.(613-615)GAG>AAG	p.E205K	SPAG7_uc002gad.2_Missense_Mutation_p.E154K|SPAG7_uc002gaf.2_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	205						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						TTCATAGCCTCTTCAATGGAG	0.617		NA											79	129					0	0	0	0
SPAG7	9552	broad.mit.edu	37	17	4862903	4862903	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862903C>T	uc002gae.2	-	7	643	c.610G>A	c.(610-612)GAA>AAA	p.E204K	SPAG7_uc002gad.2_Missense_Mutation_p.E153K|SPAG7_uc002gaf.2_3'UTR	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	204						nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						ATAGCCTCTTCAATGGAGCGT	0.617		NA											75	129					0	0	0	0
SPAG7	9552	broad.mit.edu	37	17	4863614	4863614	+	Splice_Site	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4863614C>A	uc002gae.2	-	4	276	c.243_splice	c.e4-1	p.L81_splice	SPAG7_uc002gad.2_Splice_Site_p.L30_splice|SPAG7_uc002gaf.2_Splice_Site_p.L81_splice	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2						CACATCATGTCTGGGATGGGA	0.567		NA											31	46					2.52e-32	2.82e-32	1	0
POLR2A	5430	broad.mit.edu	37	17	7417029	7417029	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7417029C>G	uc002ghf.3	+	29	5680	c.5446C>G	c.(5446-5448)CCA>GCA	p.P1816A		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1816	32.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				ACCACAGTCTCCAACCTATAC	0.443		NA											146	279					0	0	0	0
CHD3	1107	broad.mit.edu	37	17	7812049	7812049	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7812049G>T	uc002gje.2	+	36	5446	c.5296G>T	c.(5296-5298)GAT>TAT	p.D1766Y	CHD3_uc002gjd.2_Missense_Mutation_p.D1825Y|CHD3_uc002gjf.2_Missense_Mutation_p.D1732Y|CHD3_uc002gjh.2_Missense_Mutation_p.D343Y|CHD3_uc002gjj.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1766	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CATCCAGAATGATGCTCAATT	0.443		NA											26	218					4.72e-08	5.04e-08	1	0
DNAH9	1770	broad.mit.edu	37	17	11835359	11835359	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:11835359C>T	uc002gne.2	+	64	12202	c.12134C>T	c.(12133-12135)ACG>ATG	p.T4045M	DNAH9_uc010coo.2_Missense_Mutation_p.T3263M|DNAH9_uc002gnf.2_Missense_Mutation_p.T357M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4045	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCGGGAGACGGAGTTTAAG	0.498		NA											10	475					0	0	0	0
FLOT2	2319	broad.mit.edu	37	17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:27209040C>T	uc002hdc.2	-	8	829	c.706G>A	c.(706-708)GAG>AAG	p.E236K		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572		NA											18	54					0	0	0	0
RFFL	117584	broad.mit.edu	37	17	33348692	33348692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33348692G>A	uc002hin.1	-	3	462	c.289C>T	c.(289-291)CAG>TAG	p.Q97*	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Nonsense_Mutation_p.Q97*|RFFL_uc010cti.1_Nonsense_Mutation_p.Q103*|RFFL_uc002hip.1_Nonsense_Mutation_p.Q97*|RFFL_uc002hio.1_Nonsense_Mutation_p.Q97*	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	rififylin	97					apoptosis	membrane	ligase activity|zinc ion binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCTCTCGCTGAAAGGCTGTA	0.512		NA											16	128					0	0	0	0
NLE1	54475	broad.mit.edu	37	17	33469078	33469078	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33469078G>A	uc002hiy.1	-	2	110	c.82C>T	c.(82-84)CTG>TTG	p.L28L	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	28						nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				GAACCCAGCAGCTGCCCGCCC	0.687		NA											7	26					0	0	0	0
GPR179	440435	broad.mit.edu	37	17	36486529	36486529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:36486529C>A	uc002hpz.2	-	11	2944	c.2923G>T	c.(2923-2925)GCC>TCC	p.A975S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	975	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ggtgccagggcaggggctggg	0.453		NA											22	43					3.1e-05	3.26e-05	1	0
ERBB2	2064	broad.mit.edu	37	17	37880180	37880180	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:37880180G>C	uc002hso.2	+	19	2462	c.2224G>C	c.(2224-2226)GAT>CAT	p.D742H	ERBB2_uc002hsm.2_Missense_Mutation_p.D712H|ERBB2_uc010cwa.2_Missense_Mutation_p.D727H|ERBB2_uc002hsp.2_Missense_Mutation_p.D545H|ERBB2_uc010cwb.2_Missense_Mutation_p.D742H|ERBB2_uc010wek.1_Missense_Mutation_p.D466H	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	742	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGATCCCTGATGGGGAGAA	0.502		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			4	67					0	0	0	0
EIF1	10209	broad.mit.edu	37	17	39847033	39847033	+	Splice_Site	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39847033G>A	uc002hxj.2	+	4	462	c.298_splice	c.e4-1	p.I100_splice	JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Splice_Site	NM_005801	NP_005792	P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTCTTTTCAGATTGGACTGG	0.443		NA											37	120					0	0	0	0
HAP1	9001	broad.mit.edu	37	17	39881154	39881154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881154C>T	uc002hxm.1	-	12	1827	c.1815G>A	c.(1813-1815)ATG>ATA	p.M605I	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.M553I|HAP1_uc002hxo.1_Missense_Mutation_p.M536I|HAP1_uc002hxp.1_Missense_Mutation_p.M528I	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	605					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCACCACGTTCATCCGCGTTG	0.607		NA											184	319					0	0	0	0
HAP1	9001	broad.mit.edu	37	17	39881246	39881246	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881246C>G	uc002hxm.1	-	12	1735	c.1723G>C	c.(1723-1725)GAG>CAG	p.E575Q	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E523Q|HAP1_uc002hxo.1_Missense_Mutation_p.E506Q|HAP1_uc002hxp.1_Missense_Mutation_p.E498Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	575	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCCTTCCTCAGCCGGCACC	0.627		NA											187	410					0	0	0	0
ETV4	2118	broad.mit.edu	37	17	41622708	41622708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:41622708C>A	uc002idw.2	-	3	216	c.88G>T	c.(88-90)GAA>TAA	p.E30*	ETV4_uc010wih.1_Nonsense_Mutation_p.E30*|ETV4_uc010czh.2_Nonsense_Mutation_p.E30*|ETV4_uc010wii.1_5'UTR|ETV4_uc002idx.2_Nonsense_Mutation_p.E30*|ETV4_uc010wij.1_5'UTR|ETV4_uc002idy.1_5'UTR	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	30					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647		NA	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								7	19					0.00198382	0.00204915	1	0
CCDC43	124808	broad.mit.edu	37	17	42757999	42757999	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:42757999C>G	uc002ihc.2	-	4	485	c.441G>C	c.(439-441)GAG>GAC	p.E147D	CCDC43_uc010czw.1_Intron	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43 isoform 1	147											0		Prostate(33;0.0322)				AATCATCCTTCTCATCTGCTT	0.408		NA											26	165					0	0	0	0
INTS2	57508	broad.mit.edu	37	17	59968949	59968949	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:59968949C>T	uc002izn.2	-	14	1900	c.1824G>A	c.(1822-1824)TCG>TCA	p.S608S	INTS2_uc002izm.2_Silent_p.S600S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	608					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GATTAGATTTCGACGCAGGAG	0.373		NA											66	114					0	0	0	0
MED13	9969	broad.mit.edu	37	17	60060429	60060429	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60060429G>C	uc002izo.2	-	16	3012	c.2935C>G	c.(2935-2937)CAA>GAA	p.Q979E		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	979					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						GTATGAGTTTGAGGTGTATAA	0.418		NA											9	62					0	0	0	0
MRC2	9902	broad.mit.edu	37	17	60758228	60758228	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60758228G>A	uc002jad.2	+	17	2943	c.2541G>A	c.(2539-2541)GCG>GCA	p.A847A	MRC2_uc002jae.2_5'UTR|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	847	Extracellular (Potential).|C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCACGTGGGCGCAGGCGCAGC	0.667		NA											3	46					0	0	0	0
10-Mar	162333	broad.mit.edu	37	17	60814396	60814396	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60814396G>C	uc010ddr.2	-	6	1071	c.833C>G	c.(832-834)TCC>TGC	p.S278C	MARCH10_uc002jag.3_Missense_Mutation_p.S278C|MARCH10_uc010dds.2_Missense_Mutation_p.S316C|MARCH10_uc002jah.2_Missense_Mutation_p.S277C|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	278							ligase activity|zinc ion binding				0						TGACAAAATGGAATAAAAGTC	0.488		NA											101	376					0	0	0	0
RECQL5	9400	broad.mit.edu	37	17	73658604	73658604	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:73658604C>T	uc010dgl.2	-	4	882	c.726G>A	c.(724-726)CTG>CTA	p.L242L	RECQL5_uc010dgk.2_Silent_p.L215L|RECQL5_uc002jpb.1_Silent_p.L242L|RECQL5_uc002joz.3_Silent_p.L242L|RECQL5_uc002jpa.3_Silent_p.L242L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	242	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAAGTCCTTCAGGTTCCCAT	0.512		NA						Other_identified_genes_with_known_or_suspected_DNA_repair_function					223	410					0	0	0	0
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Nonsense_Mutation	SNP	G	G	T	rs139948292		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:12264384G>T	uc002kqt.3	+	3	327	c.262G>T	c.(262-264)GAG>TAG	p.E88*	CIDEA_uc002kqu.3_Nonsense_Mutation_p.E122*|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	88	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						GGACACAGAAGAGTTCTTTCA	0.512		NA											33	64					1.62e-16	1.77e-16	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996658	19996658	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:19996658C>T	uc002ktv.1	-	1	1221	c.1117G>A	c.(1117-1119)GAG>AAG	p.E373K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	373	Potential.					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)					CATTTTTCCTCTACTATTAAT	0.368		NA											17	109					0	0	0	0
C18orf21	83608	broad.mit.edu	37	18	33554876	33554876	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:33554876G>C	uc002kzc.2	+	3	222	c.118G>C	c.(118-120)GAA>CAA	p.E40Q	C18orf21_uc002kzd.2_5'UTR	NM_031446	NP_113634	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	40											0						GAGCACTTTTGAAGAAACGTG	0.353		NA											25	118					0	0	0	0
SERPINB4	6318	broad.mit.edu	37	18	61328411	61328411	+	Missense_Mutation	SNP	C	C	G	rs148776258	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:61328411C>G	uc002ljg.2	-	1	66	c.40G>C	c.(40-42)GAC>CAC	p.D14H	SERPINB3_uc002lji.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqa.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqb.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqc.2_Missense_Mutation_p.D14H			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	14					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TGGAACAGGTCGAACATGAAC	0.428		NA											87	226					0	0	0	0
GNA15	2769	broad.mit.edu	37	19	3148635	3148635	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:3148635C>T	uc002lxf.2	+	2	450	c.192C>T	c.(190-192)ATC>ATT	p.I64I	GNA15_uc010xhf.1_Silent_p.I64I	NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	64					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGATGCGGATCATCCACGGCG	0.657		NA											4	8					0	0	0	0
PTPRS	5802	broad.mit.edu	37	19	5274263	5274264	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274263_5274264GC>AA	uc002mbv.2	-	3	417_418	c.183_184GC>TT	c.(181-186)AAGCCA>AATTCA	p.61_62KP>NS	PTPRS_uc002mbu.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc010xin.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbw.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbx.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mby.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbz.1_Missense_Mutation_p.61_62KP>NS	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	61_62	Ig-like C2-type 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)		GTCACTCGTGGCTTGGGGTCAC	0.604		NA											20	50					0	0	0	0
CAPS	828	broad.mit.edu	37	19	5914740	5914740	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5914740C>A	uc002mdt.2	+	3	400	c.250C>A	c.(250-252)CGG>AGG	p.R84R	CAPS_uc002mdu.2_Silent_p.R84R	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	84	EF-hand 2.				intracellular signal transduction	cytoplasm	calcium ion binding				0						GGAGTTCCTTCGGGCGCTGCG	0.667		NA											30	109					2.61e-14	2.85e-14	1	0
MYO1F	4542	broad.mit.edu	37	19	8601428	8601428	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:8601428C>G	uc002mkg.2	-	18	1967	c.1853G>C	c.(1852-1854)AGA>ACA	p.R618T		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	618	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GAAGCCGGCTCTGCGCACCCT	0.652		NA											39	81					0	0	0	0
ZNF559	84527	broad.mit.edu	37	19	9452472	9452472	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:9452472A>G	uc002mlg.2	+	7	992	c.345A>G	c.(343-345)AGA>AGG	p.R115R	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.R107R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.R179R|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACTTTAGAAAGAAAACCT	0.373		NA											10	82					0	0	0	0
ICAM1	3383	broad.mit.edu	37	19	10395132	10395132	+	Nonsense_Mutation	SNP	G	G	T	rs143008699		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:10395132G>T	uc002mnq.2	+	5	1298	c.979G>T	c.(979-981)GAG>TAG	p.E327*	ICAM1_uc010xle.1_Nonsense_Mutation_p.E105*|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	327	Ig-like C2-type 4.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AGAAGGGACCGAGGTGACAGT	0.642		NA											44	91					1.42e-22	1.57e-22	1	0
LDLR	3949	broad.mit.edu	37	19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:11231182G>A	uc002mqk.3	+	14	2292	c.2124G>A	c.(2122-2124)ATG>ATA	p.M708I	LDLR_uc010xlk.1_Missense_Mutation_p.M708I|LDLR_uc010xll.1_Missense_Mutation_p.M667I|LDLR_uc010xlm.1_Missense_Mutation_p.M561I|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Missense_Mutation_p.M540I	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	708	EGF-like 3.|Extracellular (Potential).				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)	CCAGGGACATGAGGAGCTGCC	0.527		NA											12	67					0	0	0	0
USE1	55850	broad.mit.edu	37	19	17330509	17330509	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17330509G>A	uc002nfo.2	+	8	727	c.667G>A	c.(667-669)GAG>AAG	p.E223K	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	223	Cytoplasmic (Potential).|Potential.				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						AGAGCGTCTGGAGCAGCACAC	0.522		NA											32	74					0	0	0	0
PLVAP	83483	broad.mit.edu	37	19	17476503	17476503	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17476503G>C	uc002ngk.1	-	3	821	c.771C>G	c.(769-771)CTC>CTG	p.L257L		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	257	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGGGATGGTAGAGGTTGTAAC	0.607		NA											5	130					0	0	0	0
CILP2	148113	broad.mit.edu	37	19	19656361	19656361	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:19656361C>A	uc002nmv.3	+	8	3092	c.3007C>A	c.(3007-3009)CGG>AGG	p.R1003R	CILP2_uc002nmw.3_Silent_p.R1009R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1003						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTTCGACCAGCGGCAGGTGGA	0.682		NA											16	15					5.35e-07	5.69e-07	1	0
ZNF486	90649	broad.mit.edu	37	19	20308540	20308540	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:20308540G>C	uc002nou.2	+	4	1078	c.1021G>C	c.(1021-1023)GAG>CAG	p.E341Q		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	341	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAGTAAACATGAGAAGATTCA	0.398		NA											23	53					0	0	0	0
NUDT19	390916	broad.mit.edu	37	19	33183421	33183421	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:33183421C>G	uc010edf.2	+	1	555	c.555C>G	c.(553-555)CTC>CTG	p.L185L		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	185	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)					GCGCCCACCTCGACTGCACAC	0.721		NA											5	8					0	0	0	0
FFAR2	2867	broad.mit.edu	37	19	35941408	35941408	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:35941408C>G	uc002nzg.2	+	2	872	c.792C>G	c.(790-792)CTC>CTG	p.L264L	FFAR2_uc010eea.2_Silent_p.L264L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	264	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGTTCACTCAACGCCAGTC	0.582		NA											53	196					0	0	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278704	36278704	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:36278704C>T	uc002obs.1	+	21	2839	c.2754C>T	c.(2752-2754)CTC>CTT	p.L918L	ARHGAP33_uc002obt.1_Silent_p.L915L|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.L667L	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1079					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CTGCACCACTCGACAGGGGAG	0.672		NA											39	100					0	0	0	0
FCGBP	8857	broad.mit.edu	37	19	40357470	40357470	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40357470G>C	uc002omp.3	-	34	15851	c.15843C>G	c.(15841-15843)GTC>GTG	p.V5281V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5281	VWFD 13.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGATCTGGACTTCGGCAA	0.572		NA											10	76					0	0	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40581109T>C	uc002omy.2	-	6	1465	c.1240A>G	c.(1240-1242)ATA>GTA	p.I414V	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.I414V|ZNF780A_uc010xvh.1_Missense_Mutation_p.I415V	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383		NA											6	418					0	0	0	0
IRGQ	126298	broad.mit.edu	37	19	44097009	44097009	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:44097009C>G	uc002oww.2	-	2	1159	c.1041G>C	c.(1039-1041)GAG>GAC	p.E347D	IRGQ_uc010eiv.2_Missense_Mutation_p.E347D	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CCTTGGGATTCTCCATCTTGC	0.587		NA											8	359					0	0	0	0
ZNF331	55422	broad.mit.edu	37	19	54080952	54080952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54080952G>A	uc002qbx.1	+	7	2572	c.1138G>A	c.(1138-1140)GAA>AAA	p.E380K	ZNF331_uc002qby.1_Missense_Mutation_p.E380K|ZNF331_uc002qbz.1_Missense_Mutation_p.E380K|ZNF331_uc002qca.1_Missense_Mutation_p.E380K|ZNF331_uc010eqr.1_Missense_Mutation_p.E380K|ZNF331_uc002qcb.1_Missense_Mutation_p.E380K|ZNF331_uc002qcc.1_Missense_Mutation_p.E380K|ZNF331_uc002qcd.1_Missense_Mutation_p.E380K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		CCACACAGGCGAAACCCCGTA	0.498		NA	T	?	follicular thyroid adenoma								31	56					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54758747	54758747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54758747G>A	uc002qex.2	-	6	1217	c.1106C>T	c.(1105-1107)TCA>TTA	p.S369L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S360L|LILRB5_uc002qey.2_Missense_Mutation_p.S369L|LILRB5_uc002qez.2_Missense_Mutation_p.S269L|LILRB5_uc002qfa.1_Missense_Mutation_p.S259L|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	369	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTACTTTGACTTTAGACA	0.527		NA											7	84					0	0	0	0
ZNF628	89887	broad.mit.edu	37	19	55994342	55994342	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:55994342C>A	uc002qld.2	+	3	2335	c.1770C>A	c.(1768-1770)TTC>TTA	p.F590L	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	590	C2H2-type 15.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCCTTCCGCTGCCCGC	0.711		NA											4	29					0.00909568	0.00931342	1	0
ZNF835	90485	broad.mit.edu	37	19	57175754	57175754	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:57175754G>A	uc010ygo.1	-	2	879	c.879C>T	c.(877-879)ATC>ATT	p.I293I	ZNF835_uc010ygn.1_Silent_p.I271I	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CCTCCGTGTGGATGCGCTGGT	0.682		NA											6	4					0	0	0	0
ZIK1	284307	broad.mit.edu	37	19	58101557	58101557	+	Silent	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:58101557T>G	uc002qpg.2	+	4	475	c.378T>G	c.(376-378)GTT>GTG	p.V126V	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.V71V|ZIK1_uc002qpi.2_Silent_p.V113V|ZIK1_uc002qpj.2_Silent_p.V23V	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	126	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATACTTGGTTGGAGAATGTA	0.463		NA											41	84					0	0	0	0
KCNF1	3754	broad.mit.edu	37	2	11053214	11053214	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:11053214C>T	uc002rax.2	+	1	1152	c.662C>T	c.(661-663)ACG>ATG	p.T221M		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637		NA											16	36					0	0	0	0
CENPO	79172	broad.mit.edu	37	2	25039552	25039552	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:25039552G>C	uc002rfo.1	+	6	821	c.632G>C	c.(631-633)AGA>ACA	p.R211T	CENPO_uc002rfp.1_Missense_Mutation_p.R205T|CENPO_uc002rfq.1_Missense_Mutation_p.R211T	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN	centromere protein O	211					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTTGCAGAGAAACCCACTG	0.493		NA											265	571					0	0	0	0
GPR113	165082	broad.mit.edu	37	2	26534512	26534512	+	Missense_Mutation	SNP	C	C	T	rs148160413	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26534512C>T	uc002rhe.3	-	11	2084	c.2084G>A	c.(2083-2085)CGG>CAG	p.R695Q	GPR113_uc010yky.1_Missense_Mutation_p.R626Q|GPR113_uc002rhb.1_Missense_Mutation_p.R298Q|GPR113_uc010eyk.1_Missense_Mutation_p.R496Q|GPR113_uc002rhc.1_Missense_Mutation_p.R298Q|GPR113_uc002rhd.1_RNA	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	695	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAAGGCCCGGTCACCTGC	0.577		NA											13	27					0	0	0	0
C2orf39	92749	broad.mit.edu	37	2	26679336	26679336	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26679336C>G	uc002rhg.2	+	17	2248	c.2174C>G	c.(2173-2175)TCT>TGT	p.S725C		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	725											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGATCAACTCTGAACTGCAA	0.557		NA											10	68					0	0	0	0
AGBL5	60509	broad.mit.edu	37	2	27278716	27278716	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:27278716G>A	uc002rie.2	+	7	1292	c.1075G>A	c.(1075-1077)GAT>AAT	p.D359N	AGBL5_uc002ric.2_Missense_Mutation_p.D359N|AGBL5_uc002rid.2_Missense_Mutation_p.D359N|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	359					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGATGCTCCTGT	0.527		NA											25	118					0	0	0	0
FOSL2	2355	broad.mit.edu	37	2	28634820	28634820	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:28634820G>C	uc002rma.2	+	4	1295	c.486G>C	c.(484-486)GAG>GAC	p.E162D	FOSL2_uc010ymi.1_Missense_Mutation_p.E123D	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGGAGGAGGAGAAGTCAGGCC	0.557		NA											4	91					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50850564	50850564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:50850564G>T	uc010fbq.2	-	6	2598	c.1121C>A	c.(1120-1122)TCT>TAT	p.S374Y	NRXN1_uc002rxb.3_Missense_Mutation_p.S21Y|NRXN1_uc002rxe.3_Missense_Mutation_p.S341Y|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATGACCAGAGAGACAGCTCC	0.438		NA											30	146					5.83e-16	6.38e-16	1	0
ELMOD3	84173	broad.mit.edu	37	2	85598302	85598302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:85598302G>T	uc002spf.3	+	10	1119	c.454G>T	c.(454-456)GAA>TAA	p.E152*	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Nonsense_Mutation_p.E152*|ELMOD3_uc002sph.3_Nonsense_Mutation_p.E152*|ELMOD3_uc010ysn.1_Nonsense_Mutation_p.E152*|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	152					phagocytosis	cytoskeleton				ovary(2)	2						CCTTCGGGAAGAAAGGGACTT	0.587		NA											11	128					0.000978159	0.00101483	1	0
PCDP1	200373	broad.mit.edu	37	2	120369265	120369265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:120369265C>T	uc002tmb.2	+	14	1492	c.400C>T	c.(400-402)CAG>TAG	p.Q134*	PCDP1_uc010yyq.1_Nonsense_Mutation_p.Q264*	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	420						cilium	calmodulin binding				0	Colorectal(110;0.196)					TGAGGAATTTCAGCGACTTAA	0.333		NA											18	46					0	0	0	0
MYO7B	4648	broad.mit.edu	37	2	128394403	128394403	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:128394403C>G	uc002top.2	+	46	6217	c.6164C>G	c.(6163-6165)TCC>TGC	p.S2055C	MYO7B_uc002tos.1_Missense_Mutation_p.S165C|MYO7B_uc002tot.2_Missense_Mutation_p.S165C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	2055	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCAAGATCTCCAGCTGGAGC	0.662		NA											3	105					0	0	0	0
NXPH2	11249	broad.mit.edu	37	2	139429126	139429126	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:139429126C>T	uc002tvi.2	-	2	161	c.161G>A	c.(160-162)AGT>AAT	p.S54N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	54	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCGCAGGGGACTGATGATCCT	0.572		NA											89	179					0	0	0	0
UPP2	151531	broad.mit.edu	37	2	158971685	158971685	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:158971685G>C	uc002tzp.2	+	3	447	c.253G>C	c.(253-255)GAG>CAG	p.E85Q	UPP2_uc002tzo.2_Missense_Mutation_p.E142Q	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	85					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						GCTCGGGTTTGAGGAAGCTGA	0.463		NA											15	179					0	0	0	0
7-Mar	64844	broad.mit.edu	37	2	160604337	160604337	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:160604337C>T	uc002uax.2	+	5	658	c.536C>T	c.(535-537)TCA>TTA	p.S179L	MARCH7_uc010foq.2_Missense_Mutation_p.S179L|MARCH7_uc010zcn.1_Missense_Mutation_p.S123L|MARCH7_uc010for.2_Missense_Mutation_p.S141L|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	179	Ser-rich.						ligase activity|zinc ion binding				0						AGAGTTCCTTCATATTCACAA	0.328		NA											58	67					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179403524	179403524	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179403524G>A	uc010zfg.1	-	303	91552	c.91328C>T	c.(91327-91329)TCC>TTC	p.S30443F	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24138F|TTN_uc010zfi.1_Missense_Mutation_p.S24071F|TTN_uc010zfj.1_Missense_Mutation_p.S23946F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31370							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)			ACTATCTTTGGATATTGAAAG	0.383		NA											37	249					0	0	0	0
CCDC141	285025	broad.mit.edu	37	2	179733905	179733905	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179733905C>G	uc002unf.1	-	5	665	c.608G>C	c.(607-609)AGA>ACA	p.R203T		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	203	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTGGATTCTCTCTTTCTG	0.418		NA											6	254					0	0	0	0
CPS1	1373	broad.mit.edu	37	2	211521293	211521293	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:211521293C>A	uc002vee.3	+	30	3735	c.3603C>A	c.(3601-3603)GTC>GTA	p.V1201V	CPS1_uc010fur.2_Silent_p.V1207V|CPS1_uc010fus.2_Silent_p.V750V	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1201	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGCAGGTGTCCACTCGGGAG	0.413		NA											103	57					1.18e-47	1.32e-47	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217279529	217279529	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:217279529G>C	uc002vgc.3	+	3	432	c.102G>C	c.(100-102)CAG>CAC	p.Q34H	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.Q34H|SMARCAL1_uc010fvg.2_Missense_Mutation_p.Q34H	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	34	Potential.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACAGCATCAGAGGACTAGCT	0.522		NA							Schimke_Immuno-Osseous_Dysplasia				53	105					0	0	0	0
ZNF142	7701	broad.mit.edu	37	2	219510915	219510915	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510915C>T	uc002vin.2	-	7	1866	c.1430G>A	c.(1429-1431)CGA>CAA	p.R477Q	ZNF142_uc002vil.2_Missense_Mutation_p.R438Q|ZNF142_uc010fvt.2_Missense_Mutation_p.R314Q|ZNF142_uc002vim.2_Missense_Mutation_p.R314Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	477	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCATGTTTTCGCATGTGCAC	0.512		NA											21	93					0	0	0	0
ZNF142	7701	broad.mit.edu	37	2	219510998	219510998	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510998C>T	uc002vin.2	-	7	1783	c.1347G>A	c.(1345-1347)CTG>CTA	p.L449L	ZNF142_uc002vil.2_Silent_p.L410L|ZNF142_uc010fvt.2_Silent_p.L286L|ZNF142_uc002vim.2_Silent_p.L286L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	449	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGAGTGGGTCAGCATGTGCT	0.527		NA											22	70					0	0	0	0
COL6A3	1293	broad.mit.edu	37	2	238255176	238255176	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:238255176C>T	uc002vwl.2	-	32	7347	c.7062G>A	c.(7060-7062)CAG>CAA	p.Q2354Q	COL6A3_uc002vwo.2_Silent_p.Q2148Q|COL6A3_uc010znj.1_Silent_p.Q1747Q|COL6A3_uc002vwp.1_Silent_p.Q175Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2354	Collagen-like 5.|Triple-helical 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)		GGTCTCCCTTCTGTCCAACTA	0.468		NA											39	34					0	0	0	0
OR6B3	150681	broad.mit.edu	37	2	240985469	240985470	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985469_240985470GG>CT	uc010zoe.1	-	1	20_21	c.20_21CC>AG	c.(19-21)ACC>AAG	p.T7K		NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCCGACCCTGGTGACATTCTC	0.599		NA											29	19					0	0	0	0
SNTA1	6640	broad.mit.edu	37	20	32026798	32026798	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:32026798G>A	uc002wzd.1	-	2	617	c.345C>T	c.(343-345)TCC>TCT	p.S115S	SNTA1_uc010zuf.1_Silent_p.S115S	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	115	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						TGAAGATCTTGGAAATGAGAA	0.517		NA											15	214					0	0	0	0
EDEM2	55741	broad.mit.edu	37	20	33730263	33730263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:33730263C>A	uc002xbo.2	-	4	377	c.277G>T	c.(277-279)GAA>TAA	p.E93*	EDEM2_uc010zuv.1_Nonsense_Mutation_p.E52*|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Nonsense_Mutation_p.E56*|EDEM2_uc010zut.1_Nonsense_Mutation_p.E52*|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	93					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTTGGAATTCTGAGACATTC	0.448		NA											14	65					2.32e-09	2.48e-09	1	0
PHF20	51230	broad.mit.edu	37	20	34526853	34526853	+	Silent	SNP	C	C	T	rs17347322	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:34526853C>T	uc002xek.1	+	16	2646	c.2535C>T	c.(2533-2535)CGC>CGT	p.R845R		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	845					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)					AGAAGCCCCGCGCCTATTACC	0.632		NA											4	73					0	0	0	0
NDRG3	57446	broad.mit.edu	37	20	35299789	35299789	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:35299789C>G	uc002xfw.2	-	9	625	c.543G>C	c.(541-543)CTG>CTC	p.L181L	NDRG3_uc002xfx.2_Silent_p.L169L|NDRG3_uc010zvq.1_Silent_p.L86L|NDRG3_uc010zvr.1_Silent_p.L69L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	181					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CATTGGTTGTCAGGCCAGAGA	0.289		NA											35	56					0	0	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356988	37356988	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37356988G>A	uc002xjc.2	+	2	1547	c.1284G>A	c.(1282-1284)CTG>CTA	p.L428L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	428	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGGGCGCCTGAAGTCCTGGG	0.652		NA											13	40					0	0	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37535627	37535627	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37535627G>T	uc002xje.2	+	8	1017	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	PPP1R16B_uc010ggc.2_Missense_Mutation_p.Q234H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	276	ANK 4.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TTCAGATGCAGATGGCAGAGC	0.532		NA											17	163					4.63e-17	5.1e-17	1	0
TOP1	7150	broad.mit.edu	37	20	39742733	39742733	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:39742733G>C	uc002xjl.2	+	15	1822	c.1576G>C	c.(1576-1578)GAG>CAG	p.E526Q	uc002xjn.1_Intron	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	526					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ATATGTGGTAGAGTTTGACTT	0.468		NA	T	NUP98	AML*								10	157					0	0	0	0
ADNP	23394	broad.mit.edu	37	20	49510939	49510939	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:49510939C>G	uc002xvt.1	-	5	657	c.312G>C	c.(310-312)AGG>AGC	p.R104S	ADNP_uc002xvu.1_Missense_Mutation_p.R104S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAAGGAGAATCCTATTTTCAA	0.408		NA											32	160					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62648154	62648154	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62648154G>C	uc002yho.2	+	12	1771	c.1603G>C	c.(1603-1605)GAG>CAG	p.E535Q	PRPF6_uc002yhp.2_Missense_Mutation_p.E535Q	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	535					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GATTGGGATTGAGGAGGAAGA	0.542		NA											7	75					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	10959802	10959802	+	Splice_Site	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:10959802T>C	uc002yip.1	-	8	542	c.174_splice	c.e8-1	p.S58_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S40_splice|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTAACACACTTTAGCCACCA	0.318		NA											23	91					0	0	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671931	39671931	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:39671931C>T	uc002ywv.2	+	4	1050	c.748C>T	c.(748-750)CTG>TTG	p.L250L	KCNJ15_uc002yww.2_Silent_p.L250L|KCNJ15_uc002ywx.2_Silent_p.L250L	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	250	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						CTTCCTCATTCTGCCCATGAC	0.557		NA											35	66					0	0	0	0
COL6A1	1291	broad.mit.edu	37	21	47422131	47422131	+	Splice_Site	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47422131G>C	uc002zhu.1	+	32	2169	c.2067_splice	c.e32-1	p.E689_splice	COL6A1_uc010gqd.1_Splice_Site_p.E20_splice|COL6A1_uc002zhv.1_Splice_Site_p.E20_splice|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor						axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTGCTATGCAGAGCCATCAAG	0.711		NA											2	13					0	0	0	0
LSS	4047	broad.mit.edu	37	21	47636350	47636350	+	Missense_Mutation	SNP	C	C	T	rs150614553		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47636350C>T	uc002zij.2	-	7	815	c.736G>A	c.(736-738)GTT>ATT	p.V246I	LSS_uc011afv.1_Missense_Mutation_p.V235I|LSS_uc002zil.2_Missense_Mutation_p.V246I|LSS_uc002zik.2_Missense_Mutation_p.V166I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	246					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CTCAGCCGAACGGCGTAGCAG	0.652		NA											34	48					0	0	0	0
SMARCB1	6598	broad.mit.edu	37	22	24135750	24135750	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24135750C>A	uc002zyb.2	+	3	444	c.237C>A	c.(235-237)CAC>CAA	p.H79Q	SMARCB1_uc002zyg.2_Missense_Mutation_p.H79Q|SMARCB1_uc011ajb.1_Missense_Mutation_p.H70Q|SMARCB1_uc002zya.2_Missense_Mutation_p.H79Q|SMARCB1_uc002zyc.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zyd.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zye.1_Missense_Mutation_p.H42Q|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	79					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537		NA	D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				95	178					1.3e-36	1.46e-36	1	0
CABIN1	23523	broad.mit.edu	37	22	24439409	24439409	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24439409T>C	uc002zzi.1	+	6	516	c.389T>C	c.(388-390)ATT>ACT	p.I130T	CABIN1_uc002zzj.1_Missense_Mutation_p.I130T|CABIN1_uc002zzl.1_Missense_Mutation_p.I130T|CABIN1_uc010guk.1_Missense_Mutation_p.I85T|CABIN1_uc002zzk.1_Missense_Mutation_p.I85T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	130	TPR 3.				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGGTATAAGATTGGACATGTG	0.478		NA											43	111					0	0	0	0
SUSD2	56241	broad.mit.edu	37	22	24580746	24580746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24580746C>G	uc002zzn.1	+	5	664	c.620C>G	c.(619-621)TCA>TGA	p.S207*		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	207	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ATGCCCTACTCACAGGAGTGG	0.607		NA											11	52					0	0	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689980	30689980	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:30689980G>A	uc011akt.1	-	7	849	c.825C>T	c.(823-825)TTC>TTT	p.F275F	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.F133F|TBC1D10A_uc003ahj.3_Silent_p.F187F|TBC1D10A_uc010gvu.2_Silent_p.F282F|TBC1D10A_uc003ahk.3_Silent_p.F275F	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	275	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						AGGCGCACATGAACCATTCTG	0.592		NA											22	152					0	0	0	0
DEPDC5	9681	broad.mit.edu	37	22	32210996	32210996	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32210996G>C	uc003als.2	+	21	1606	c.1464G>C	c.(1462-1464)GAG>GAC	p.E488D	DEPDC5_uc011als.1_Missense_Mutation_p.E488D|DEPDC5_uc011alu.1_Missense_Mutation_p.E488D|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E488D|DEPDC5_uc003alr.1_Missense_Mutation_p.E488D|DEPDC5_uc011alt.1_Missense_Mutation_p.E460D	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	488					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GAGAGCGAGAGAGTCACAGTC	0.532		NA											5	169					0	0	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215016	32215016	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32215016G>A	uc003als.2	+	22	1817	c.1675G>A	c.(1675-1677)GAG>AAG	p.E559K	DEPDC5_uc011als.1_Missense_Mutation_p.E559K|DEPDC5_uc011alu.1_Missense_Mutation_p.E559K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E559K|DEPDC5_uc003alu.2_5'UTR|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alt.1_Missense_Mutation_p.E531K	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	559					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						AGATGTCCTGGAGAACATGAT	0.498		NA											5	151					0	0	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656807	50656807	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:50656807G>A	uc003bkb.1	-	23	5491	c.4979C>T	c.(4978-4980)TCT>TTT	p.S1660F	TUBGCP6_uc003bka.1_Intron|TUBGCP6_uc010har.1_Missense_Mutation_p.S1652F|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1660					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAACTGCACAGAGCCGGCCAT	0.657		NA											14	59					0	0	0	0
HDAC11	79885	broad.mit.edu	37	3	13538259	13538259	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:13538259C>T	uc003bxy.2	+	4	409	c.276C>T	c.(274-276)ATC>ATT	p.I92I	HDAC11_uc010heb.2_Silent_p.I64I|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Silent_p.I64I|HDAC11_uc011auy.1_Intron	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	92	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						TTGCTACCATCACAGAAATCC	0.572		NA									OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	87					0	0	0	0
TOP2B	7155	broad.mit.edu	37	3	25670595	25670595	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:25670595G>A	uc011awn.1	-	14	1774	c.1731C>T	c.(1729-1731)TTC>TTT	p.F577F	TOP2B_uc003cdj.2_Silent_p.F572F	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	577					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TGTGATGGATGAAATTAATAA	0.274		NA											43	49					0	0	0	0
KIF15	56992	broad.mit.edu	37	3	44844322	44844322	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:44844322G>C	uc003cnx.3	+	14	1675	c.1526G>C	c.(1525-1527)AGA>ACA	p.R509T	KIF15_uc010hiq.2_Missense_Mutation_p.R412T|KIF15_uc003cny.1_Missense_Mutation_p.R144T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	509	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CACCACCCCAGAGTTGCAAAG	0.383		NA											18	100					0	0	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077096	45077096	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:45077096G>C	uc003cok.3	+	3	385	c.289G>C	c.(289-291)GAC>CAC	p.D97H	CLEC3B_uc003col.2_Missense_Mutation_p.D55H	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	97	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)	GGCCAGCGAGGACTGCATCTC	0.632		NA											15	29					0	0	0	0
PTPN23	25930	broad.mit.edu	37	3	47451515	47451515	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:47451515G>A	uc003crf.1	+	20	2323	c.2227G>A	c.(2227-2229)GAG>AAG	p.E743K	PTPN23_uc011baw.1_Missense_Mutation_p.E708K|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.E613K	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	743	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)		AGACCCCCCTGAGGAGCTGCG	0.682		NA											9	6					0	0	0	0
P4HTM	54681	broad.mit.edu	37	3	49040007	49040007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:49040007C>G	uc003cvg.2	+	4	1051	c.702C>G	c.(700-702)ATC>ATG	p.I234M	P4HTM_uc003cvh.2_Missense_Mutation_p.I234M|P4HTM_uc010hkm.1_Missense_Mutation_p.I120M	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	234	Lumenal (Potential).|EF-hand 2.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|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			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	ACGCCGCGATCAAGGCTGACC	0.562		NA											53	52					0	0	0	0
APPL1	26060	broad.mit.edu	37	3	57291322	57291322	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:57291322A>G	uc003dio.2	+	15	1443	c.1296A>G	c.(1294-1296)GGA>GGG	p.G432G	APPL1_uc010hnb.2_Silent_p.G432G|APPL1_uc011bey.1_Silent_p.G415G	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	432					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATCCTTAGGATCTGAGTCTA	0.433		NA											70	41					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107491933	107491933	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107491933G>C	uc010hpr.2	+	11	1692	c.1365G>C	c.(1363-1365)AAG>AAC	p.K455N	BBX_uc003dwk.3_Missense_Mutation_p.K455N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.K476N|BBX_uc003dwm.3_Missense_Mutation_p.K455N|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	455	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAAAAGAAGAAAAGCAAAA	0.388		NA											160	77					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492069	107492069	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492069G>C	uc010hpr.2	+	11	1828	c.1501G>C	c.(1501-1503)GAG>CAG	p.E501Q	BBX_uc003dwk.3_Missense_Mutation_p.E501Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E522Q|BBX_uc003dwm.3_Missense_Mutation_p.E501Q|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	501	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGGGCATAGAGAAACTTGG	0.473		NA											115	72					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492081	107492081	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492081G>C	uc010hpr.2	+	11	1840	c.1513G>C	c.(1513-1515)GAT>CAT	p.D505H	BBX_uc003dwk.3_Missense_Mutation_p.D505H|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D526H|BBX_uc003dwm.3_Missense_Mutation_p.D505H|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	505	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAACTTGGAGATACCCCTCG	0.458		NA											110	69					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492134	107492134	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492134G>C	uc010hpr.2	+	11	1893	c.1566G>C	c.(1564-1566)TTG>TTC	p.L522F	BBX_uc003dwk.3_Missense_Mutation_p.L522F|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.L543F|BBX_uc003dwm.3_Missense_Mutation_p.L522F|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	522	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGCATTTTGGATGCCAAGC	0.468		NA											34	56					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492169G>C	uc010hpr.2	+	11	1928	c.1601G>C	c.(1600-1602)AGA>ACA	p.R534T	BBX_uc003dwk.3_Missense_Mutation_p.R534T|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.R555T|BBX_uc003dwm.3_Missense_Mutation_p.R534T|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	534	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438		NA											7	51					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492191	107492191	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492191G>A	uc010hpr.2	+	11	1950	c.1623G>A	c.(1621-1623)GAG>GAA	p.E541E	BBX_uc003dwk.3_Silent_p.E541E|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.E562E|BBX_uc003dwm.3_Silent_p.E541E|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	541	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTCAAAGGAGAAATCCTCAG	0.433		NA											18	51					0	0	0	0
BBX	56987	broad.mit.edu	37	3	107492201	107492201	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492201G>A	uc010hpr.2	+	11	1960	c.1633G>A	c.(1633-1635)GAC>AAC	p.D545N	BBX_uc003dwk.3_Missense_Mutation_p.D545N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D566N|BBX_uc003dwm.3_Missense_Mutation_p.D545N|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAATCCTCAGACACCACCAA	0.428		NA											20	54					0	0	0	0
BOC	91653	broad.mit.edu	37	3	112968688	112968688	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:112968688G>T	uc003dzx.2	+	3	660	c.39G>T	c.(37-39)AGG>AGT	p.R13S	BOC_uc010hqi.2_Missense_Mutation_p.R13S|BOC_uc003dzy.2_Missense_Mutation_p.R13S|BOC_uc003dzz.2_Missense_Mutation_p.R13S|BOC_uc003dzw.1_Missense_Mutation_p.R13S|BOC_uc003eaa.1_Missense_Mutation_p.R13S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	13					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)			GAGGAATGAGGCCTGAGGTCA	0.552		NA											16	126					3.62e-10	3.9e-10	1	0
CCDC52	152185	broad.mit.edu	37	3	113187686	113187686	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113187686G>C	uc003eag.3	-	9	1103	c.812C>G	c.(811-813)TCT>TGT	p.S271C	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S167C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	271					cell division|mitosis	centriole|spindle	protein binding				0						AGTCTCAGTAGATTCTTCAGG	0.418		NA											25	162					0	0	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724682	113724682	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113724682G>A	uc003eax.2	-	10	1688	c.1541C>T	c.(1540-1542)GCA>GTA	p.A514V	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.A492V|KIAA1407_uc011bip.1_Missense_Mutation_p.A501V	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	514										ovary(2)	2						ATTGCCAGGTGCACTCAGAGA	0.542		NA											39	566					0	0	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069347	114069347	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114069347G>A	uc003ebi.2	-	4	1758	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F	ZBTB20_uc003ebj.2_Silent_p.F453F|ZBTB20_uc010hqp.2_Silent_p.F453F|ZBTB20_uc003ebk.2_Silent_p.F453F|ZBTB20_uc003ebl.2_Silent_p.F453F|ZBTB20_uc003ebm.2_Silent_p.F453F|ZBTB20_uc003ebn.2_Silent_p.F453F|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642		NA											32	170					0	0	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070078	114070078	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114070078C>T	uc003ebi.2	-	4	1027	c.847G>A	c.(847-849)GAA>AAA	p.E283K	ZBTB20_uc003ebj.2_Missense_Mutation_p.E210K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E210K|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGGGTCTTCCATGTGGTGG	0.662		NA											6	208					0	0	0	0
LSAMP	4045	broad.mit.edu	37	3	115561400	115561400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:115561400C>G	uc003ebt.2	-	5	1175	c.675G>C	c.(673-675)AAG>AAC	p.K225N	LSAMP_uc011bis.1_Missense_Mutation_p.K225N	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	225	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCATTGCTCTTGGATTCTG	0.453		NA											19	122					0	0	0	0
GOLGB1	2804	broad.mit.edu	37	3	121395796	121395796	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:121395796C>G	uc003eei.3	-	17	9232	c.9106G>C	c.(9106-9108)GAC>CAC	p.D3036H	GOLGB1_uc010hrc.2_Missense_Mutation_p.D3041H|GOLGB1_uc003eej.3_Missense_Mutation_p.D3002H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	3036	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)		TTTAAGCTGTCATTGAGCTGG	0.423		NA											14	217					0	0	0	0
KALRN	8997	broad.mit.edu	37	3	124376308	124376308	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:124376308G>C	uc003ehg.2	+	40	6000	c.5873G>C	c.(5872-5874)AGA>ACA	p.R1958T	KALRN_uc003ehi.2_Missense_Mutation_p.R299T|KALRN_uc003ehk.2_Missense_Mutation_p.R261T|KALRN_uc011bjz.1_Missense_Mutation_p.R50T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1957	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TTCATGAAGAGAATAGAAGAA	0.453		NA											4	129					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130361868	130361868	+	Splice_Site	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:130361868G>A	uc010htl.2	+	30	5258	c.5227_splice	c.e30+1	p.P1743_splice	COL6A6_uc003eni.3_Splice_Site_p.V6_splice	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GACCGCAGTCGTAAGTACCCT	0.393		NA											13	80					0	0	0	0
SOX14	8403	broad.mit.edu	37	3	137484129	137484129	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137484129C>T	uc003erm.1	+	1	551	c.503C>T	c.(502-504)TCC>TTC	p.S168F		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	168					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						CCCTACGCGTCCACCCTGGGC	0.687		NA											9	11					0	0	0	0
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137885942G>A	uc003erv.2	-	5	831	c.695C>T	c.(694-696)GCC>GTC	p.A232V	DBR1_uc003eru.2_Missense_Mutation_p.A181V|DBR1_uc003ert.2_5'Flank	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	232						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CATCAAGGCGGCAAACTTCAC	0.289		NA											5	230					0	0	0	0
BCHE	590	broad.mit.edu	37	3	165547864	165547864	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:165547864G>C	uc003fem.3	-	2	1118	c.958C>G	c.(958-960)CCG>GCG	p.P320A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	320					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCACGGTCGGACCAAAGTTT	0.373		NA											22	171					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171431715	171431715	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:171431715C>G	uc003fhs.2	-	9	995	c.879G>C	c.(877-879)ACG>ACC	p.T293T	PLD1_uc003fht.2_Silent_p.T293T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	293	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCATATTTCGTTTCTGTCT	0.338		NA											215	145					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173322762	173322762	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:173322762G>C	uc003fio.1	+	3	797	c.374G>C	c.(373-375)AGA>ACA	p.R125T	NLGN1_uc010hww.1_Missense_Mutation_p.R125T|NLGN1_uc003fip.1_Missense_Mutation_p.R125T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	125	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTGATGGCAGATTGCCAGAA	0.433		NA											26	542					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			102	64					0	0	0	0
BCL6	604	broad.mit.edu	37	3	187447044	187447044	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:187447044G>A	uc003frp.3	-	5	1606	c.1149C>T	c.(1147-1149)CTC>CTT	p.L383L	BCL6_uc011bsf.1_Silent_p.L383L|BCL6_uc010hza.2_Silent_p.L281L|BCL6_uc003frq.1_Silent_p.L383L	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	383					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)		TGAGGCTGTTGAGCACGATGA	0.607		NA	T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								22	857					0	0	0	0
TFRC	7037	broad.mit.edu	37	3	195782122	195782122	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:195782122C>G	uc003fvz.3	-	17	2011	c.1728G>C	c.(1726-1728)CTG>CTC	p.L576L	TFRC_uc003fwa.3_Silent_p.L576L|TFRC_uc010hzy.2_Silent_p.L495L|TFRC_uc011btr.1_Silent_p.L294L	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	576	Extracellular (Potential).|Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCTCTCAATCAGTTCCTTAT	0.468		NA	T	BCL6	NHL								40	312					0	0	0	0
LMLN	89782	broad.mit.edu	37	3	197712706	197712706	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:197712706G>C	uc011buo.1	+	8	896	c.874G>C	c.(874-876)GAT>CAT	p.D292H	LMLN_uc003fyt.2_Missense_Mutation_p.D240H|LMLN_uc010iar.2_Missense_Mutation_p.D292H|LMLN_uc010ias.2_Missense_Mutation_p.D240H|LMLN_uc003fyu.2_Missense_Mutation_p.D52H	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	292					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCATGATAAAGATGGAAATCC	0.403		NA											26	278					0	0	0	0
RGS12	6002	broad.mit.edu	37	4	3441262	3441262	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:3441262C>T	uc003ggw.2	+	18	5099	c.4195C>T	c.(4195-4197)CGG>TGG	p.R1399W	RGS12_uc003ggz.2_Missense_Mutation_p.R751W|RGS12_uc003gha.2_Missense_Mutation_p.R741W|RGS12_uc010icv.2_Missense_Mutation_p.R598W|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1399						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGCCCGGGCGGGATGGTGG	0.647		NA											21	32					0	0	0	0
SDAD1	55153	broad.mit.edu	37	4	76886972	76886972	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:76886972A>G	uc003hje.3	-	13	1168	c.1049T>C	c.(1048-1050)GTA>GCA	p.V350A	SDAD1_uc003hjf.3_Missense_Mutation_p.V253A|SDAD1_uc011cbr.1_Missense_Mutation_p.V313A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	350					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATCTTGGTTACTTCTGAAAA	0.403		NA											37	108					0	0	0	0
PTPN13	5783	broad.mit.edu	37	4	87705639	87705639	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:87705639G>A	uc003hpz.2	+	38	6526	c.6046G>A	c.(6046-6048)GAA>AAA	p.E2016K	PTPN13_uc003hpy.2_Missense_Mutation_p.E2021K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1997K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1825K|PTPN13_uc003hqc.1_Missense_Mutation_p.E382K	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2016						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAAATAAATGAAATATCGTA	0.378		NA											4	37					0	0	0	0
SPATA5	166378	broad.mit.edu	37	4	123855341	123855341	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:123855341G>A	uc003iez.3	+	5	668	c.595G>A	c.(595-597)GAT>AAT	p.D199N	SPATA5_uc003iey.2_Missense_Mutation_p.D198N	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	199					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GAAAGGGGCAGATGGCATGAT	0.468		NA											6	124					0	0	0	0
SLC10A7	84068	broad.mit.edu	37	4	147431156	147431156	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:147431156G>T	uc010ioz.2	-	3	483	c.229C>A	c.(229-231)CAG>AAG	p.Q77K	SLC10A7_uc003ikr.2_Missense_Mutation_p.Q77K|SLC10A7_uc010ipa.2_Missense_Mutation_p.Q77K|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.Q77K	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	77	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)					GTAAAGATCTGAATAAAAAGA	0.353		NA											29	50					1.31e-18	1.45e-18	1	0
ARFIP1	27236	broad.mit.edu	37	4	153784795	153784795	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:153784795C>T	uc003imz.2	+	3	407	c.131C>T	c.(130-132)TCA>TTA	p.S44L	ARFIP1_uc003inb.2_Missense_Mutation_p.S44L|ARFIP1_uc003ina.2_Missense_Mutation_p.S44L|ARFIP1_uc003inc.2_Missense_Mutation_p.S44L|ARFIP1_uc011cij.1_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	44					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)					CTTGGTCTCTCAGAAACCCAA	0.358		NA											12	106					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155252756	155252756	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:155252756G>C	uc003inw.2	-	10	2344	c.2344C>G	c.(2344-2346)CTG>GTG	p.L782V	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	782	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcacagaaCAGAGACTTGAGA	0.239		NA											12	27					0	0	0	0
NPY5R	4889	broad.mit.edu	37	4	164271639	164271639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:164271639C>T	uc003iqn.2	+	4	396	c.214C>T	c.(214-216)CAG>TAG	p.Q72*		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	72	Cytoplasmic (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)				AAAGCGTAATCAGAAGACTAC	0.398		NA											84	335					0	0	0	0
SORBS2	8470	broad.mit.edu	37	4	186545444	186545444	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:186545444G>A	uc003iyl.2	-	13	1985	c.1127C>T	c.(1126-1128)TCT>TTT	p.S376F	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S476F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S280F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S490F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	376						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTTGGGAGAGACGGTTTC	0.537		NA											42	77					0	0	0	0
SDHA	6389	broad.mit.edu	37	5	226112	226112	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:226112T>C	uc003jao.3	+	5	686	c.571T>C	c.(571-573)TGT>CGT	p.C191R	SDHA_uc003jan.2_Missense_Mutation_p.C191R|SDHA_uc011clv.1_Missense_Mutation_p.C191R|SDHA_uc011clw.1_Missense_Mutation_p.C143R|SDHA_uc003jap.3_Missense_Mutation_p.C191R|SDHA_uc003jaq.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	191					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCGGTGCTGCTGTGTGGCTGA	0.562		NA							Familial_Paragangliomas				23	171					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13864529	13864529	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:13864529G>A	uc003jfd.2	-	28	4615	c.4573C>T	c.(4573-4575)CTG>TTG	p.L1525L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTATATTTCAGAAGAGGTGCC	0.408		NA							Kartagener_syndrome				13	176					0	0	0	0
GPBP1	65056	broad.mit.edu	37	5	56531816	56531816	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:56531816G>A	uc003jrh.3	+	6	1709	c.435G>A	c.(433-435)GAG>GAA	p.E145E	GPBP1_uc010iwg.2_Silent_p.E145E|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.E152E|GPBP1_uc003jrk.3_Silent_p.E152E|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTGAGTATGAGAGAGAACCAA	0.318		NA											9	136					0	0	0	0
PLK2	10769	broad.mit.edu	37	5	57755707	57755707	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:57755707C>T	uc003jrn.2	-	1	207	c.80G>A	c.(79-81)GGA>GAA	p.G27E	PLK2_uc011cql.1_5'Flank	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|lung(1)|skin(1)	4		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGTCCGCTCCGCAACCCTT	0.682		NA											4	35					0	0	0	0
ERCC8	1161	broad.mit.edu	37	5	60183269	60183269	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:60183269C>G	uc003jsm.3	-	11	1190	c.1120G>C	c.(1120-1122)GAG>CAG	p.E374Q	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.E316Q|ERCC8_uc011cqp.1_Missense_Mutation_p.E221Q	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	374					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATATTTACCTCATCATCATCA	0.343		NA						Direct_reversal_of_damage|NER					33	96					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63256428	63256428	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:63256428G>A	uc011cqt.1	-	1	1119	c.1119C>T	c.(1117-1119)AGC>AGT	p.S373S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	373	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGTGGCAGCTGCTCTCGCAGA	0.542		NA											94	167					0	0	0	0
SGTB	54557	broad.mit.edu	37	5	65008794	65008794	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:65008794G>A	uc003jud.2	-	3	418	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	66							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ATACCTTACAGAAGGAACTGG	0.353		NA											3	116					0	0	0	0
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79616896G>A	uc003kgn.2	+	1	1107	c.862G>A	c.(862-864)GGT>AGT	p.G288S	uc011ctk.1_RNA	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413		NA											51	70					0	0	0	0
SPZ1	84654	broad.mit.edu	37	5	79617264	79617264	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79617264C>G	uc003kgn.2	+	1	1475	c.1230C>G	c.(1228-1230)TTC>TTG	p.F410L	uc011ctk.1_RNA	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATACCCAGTTCAATATTCATG	0.378		NA											24	86					0	0	0	0
RASGRF2	5924	broad.mit.edu	37	5	80390809	80390809	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:80390809C>G	uc003kha.1	+	12	1753	c.1753C>G	c.(1753-1755)CAG>GAG	p.Q585E	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	585	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGACATCAGTCAGGTAAGAAA	0.383		NA											14	75					0	0	0	0
DCP2	167227	broad.mit.edu	37	5	112337070	112337070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:112337070C>G	uc003kqh.2	+	6	800	c.602C>G	c.(601-603)TCT>TGT	p.S201C	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.S107C	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	201	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GAGTGGTTCTCTATTGAGAAA	0.333		NA											40	167					0	0	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140230180G>A	uc003lhu.2	+	1	2824	c.2100G>A	c.(2098-2100)CTG>CTA	p.L700L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.L700L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	700	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662		NA											7	103					0	0	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502348	140502348	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140502348A>G	uc003lip.1	+	1	768	c.768A>G	c.(766-768)CTA>CTG	p.L256L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	256	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGCCCCCTAGACTCTCCAA	0.448		NA											57	161					0	0	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868963	140868963	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140868963G>C	uc003lla.1	+	1	156	c.156G>C	c.(154-156)CTG>CTC	p.L52L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.L52L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	52	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGATCTGGGCTTAAAGA	0.582		NA											13	98					0	0	0	0
DIAPH1	1729	broad.mit.edu	37	5	140955833	140955833	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140955833C>G	uc003llb.3	-	14	1566	c.1425G>C	c.(1423-1425)GAG>GAC	p.E475D	DIAPH1_uc003llc.3_Missense_Mutation_p.E466D|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	475	Potential.				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)			CTTCAGATTTCTCCACCTTTG	0.363		NA											36	145					0	0	0	0
RGS14	10636	broad.mit.edu	37	5	176795809	176795809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176795809C>T	uc003mgf.2	+	9	1123	c.941C>T	c.(940-942)TCC>TTC	p.S314F	RGS14_uc003mgg.1_Missense_Mutation_p.S161F|RGS14_uc003mgh.2_Missense_Mutation_p.S161F|RGS14_uc003mgi.2_Missense_Mutation_p.S84F|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	314	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACAGCCTCCTTGGCCCTG	0.592		NA									OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	41					0	0	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834627	27834627	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:27834627C>T	uc003njx.2	-	1	733	c.681G>A	c.(679-681)TAG>TAA	p.*227*		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	227					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CGCCAGCTTCCTACTTCTTTT	0.517		NA											15	23					0	0	0	0
BAT2	7916	broad.mit.edu	37	6	31597336	31597336	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:31597336G>A	uc003nvb.3	+	14	2217	c.1968G>A	c.(1966-1968)CTG>CTA	p.L656L	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.L656L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	656	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGCAGCTCCTGAagcagcagc	0.443		NA											145	239					0	0	0	0
RXRB	6257	broad.mit.edu	37	6	33165572	33165572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:33165572G>A	uc003odb.2	-	4	966	c.787C>T	c.(787-789)CAG>TAG	p.Q263*	RXRB_uc003odc.2_Nonsense_Mutation_p.Q263*|RXRB_uc003odd.2_Nonsense_Mutation_p.Q167*|RXRB_uc011dqr.1_Nonsense_Mutation_p.Q73*|RXRB_uc011dqs.1_Nonsense_Mutation_p.Q146*|RXRB_uc003ode.1_Nonsense_Mutation_p.Q127*|RXRB_uc011dqt.1_Nonsense_Mutation_p.Q263*|RXRB_uc011dqu.1_Nonsense_Mutation_p.Q167*	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	263	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCACTTCTGATAGCGGCAG	0.577		NA											6	69					0	0	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980010	35980010	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:35980010C>G	uc003olm.2	-	3	439	c.328G>C	c.(328-330)GGC>CGC	p.G110R	SLC26A8_uc003oln.2_Missense_Mutation_p.G110R|SLC26A8_uc003oll.2_Missense_Mutation_p.G110R	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	110	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						TCTTCCTTACCTTGGGGAACT	0.418		NA											28	454					0	0	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:55113511G>T	uc003pcl.2	+	2	613	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.D35Y	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	100	Helical; Name=2; (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)			TTCTCTGGCTGATGTGCTCGT	0.453		NA											32	235					6.01e-18	6.63e-18	1	0
DST	667	broad.mit.edu	37	6	56458614	56458614	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56458614C>T	uc003pdf.2	-	42	6244	c.6216G>A	c.(6214-6216)TTG>TTA	p.L2072L	DST_uc003pcz.3_Silent_p.L1894L|DST_uc011dxj.1_Silent_p.L1923L|DST_uc011dxk.1_Silent_p.L1934L|DST_uc003pcy.3_Silent_p.L1568L|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3980	Spectrin 2.				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)			TGATGTATCTCAAGTCACCTT	0.438		NA											37	364					0	0	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229717	74229717	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:74229717G>A	uc003phi.2	-	1	70	c.33C>T	c.(31-33)GTC>GTT	p.V11V	EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.V11V|EEF1A1_uc003phf.2_Silent_p.V11V|EEF1A1_uc003phg.2_Silent_p.V11V|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.V11V|EEF1A1_uc003phk.2_Silent_p.V11V|EEF1A1_uc003phl.2_Silent_p.V11V|EEF1A1_uc003phm.1_RNA	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	11						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GTCCAATGACGACAATGTTGA	0.418		NA											15	127					0	0	0	0
GABRR2	2570	broad.mit.edu	37	6	89974233	89974233	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:89974233G>C	uc003pnb.2	-	8	1067	c.1059C>G	c.(1057-1059)CTC>CTG	p.L353L	GABRR2_uc011dzx.1_Silent_p.L229L	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	353	Helical; (Potential).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		AGCTGACCCAGAGGTAGATGT	0.592		NA											22	95					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90494802	90494802	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:90494802G>C	uc003pnn.1	-	9	1494	c.1378C>G	c.(1378-1380)CAT>GAT	p.H460D	MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.H460D	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	460					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)		AAAGTAGCATGACTGTTTAGC	0.378		NA											6	344					0	0	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888996	136888996	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:136888996G>A	uc003qhc.2	-	26	3895	c.3534C>T	c.(3532-3534)TTC>TTT	p.F1178F	MAP3K5_uc011edj.1_Silent_p.F425F|MAP3K5_uc011edk.1_Silent_p.F1024F	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1178					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAAGGCTGAAATGTGGCC	0.373		NA											48	106					0	0	0	0
FNDC1	84624	broad.mit.edu	37	6	159659662	159659662	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:159659662G>A	uc010kjv.2	+	13	4345	c.4145G>A	c.(4144-4146)CGG>CAG	p.R1382Q	FNDC1_uc010kjw.1_Missense_Mutation_p.R1267Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1382						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATCCTCTTCGGATTAAACTA	0.388		NA											8	20					0	0	0	0
WTAP	9589	broad.mit.edu	37	6	160176375	160176375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160176375G>A	uc003qsl.2	+	8	1145	c.923G>A	c.(922-924)GGG>GAG	p.G308E	WTAP_uc003qso.2_Missense_Mutation_p.G189E	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Wilms' tumour 1-associating protein isoform 1	308					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus					0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCTTCTCCAGGGAATGGTAAT	0.507		NA											30	71					0	0	0	0
TCP1	6950	broad.mit.edu	37	6	160200096	160200096	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160200096G>A	uc003qsr.2	-	12	1887	c.1652C>T	c.(1651-1653)TCT>TTT	p.S551F	TCP1_uc003qss.2_Missense_Mutation_p.S396F|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_Missense_Mutation_p.S327F	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	551					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AAGGGCTCCAGAGTGAACAGC	0.318		NA											22	90					0	0	0	0
PLG	5340	broad.mit.edu	37	6	161134091	161134092	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134091_161134092GG>AA	uc003qtm.3	+	5	544_545	c.481_482GG>AA	c.(481-483)GGG>AAG	p.G161K		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTGC	0.48		NA											74	154					0	0	0	0
MLLT4	4301	broad.mit.edu	37	6	168276155	168276155	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:168276155C>G	uc003qwd.2	+	5	858	c.716C>G	c.(715-717)TCA>TGA	p.S239*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.S239*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S240*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	240					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)		TTTCGGAGCTCAGATGGGCGG	0.438		NA	T	MLL	AL								53	341					0	0	0	0
SMOC2	64094	broad.mit.edu	37	6	169053734	169053734	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:169053734G>A	uc003qws.1	+	11	1131	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K	SMOC2_uc003qwr.1_Missense_Mutation_p.E382K|SMOC2_uc011egu.1_Missense_Mutation_p.E48K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	371	EF-hand 1.|1 (Potential).				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAAAGGAAATCAAACC	0.443		NA											34	103					0	0	0	0
USP42	84132	broad.mit.edu	37	7	6193669	6193669	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:6193669G>C	uc011jwo.1	+	15	2607	c.2484G>C	c.(2482-2484)GCG>GCC	p.A828A	USP42_uc011jwp.1_Silent_p.A828A|USP42_uc011jwq.1_Silent_p.A635A|USP42_uc011jwr.1_Silent_p.A673A	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	828	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCGATGCGAGCCCGTTGT	0.716		NA											9	66					0	0	0	0
HIBADH	11112	broad.mit.edu	37	7	27689115	27689115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:27689115C>T	uc003szf.2	-	2	424	c.229G>A	c.(229-231)GAG>AAG	p.E77K	HIBADH_uc003szg.2_Missense_Mutation_p.E28K|HIBADH_uc003szh.2_Intron|HIBADH_uc003szi.2_Missense_Mutation_p.E28K	NM_152740	NP_689953	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase precursor	77					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			ovary(2)	2			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCTTGAAACTCTTTGCAGGCA	0.353		NA											26	49					0	0	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378495	31378495	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:31378495G>C	uc003tch.2	-	2	741	c.388C>G	c.(388-390)CTG>GTG	p.L130V		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	130	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						ATTTTGGACAGTTTCTGGGTT	0.483		NA											41	77					0	0	0	0
CAMK2B	816	broad.mit.edu	37	7	44281890	44281890	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:44281890A>G	uc003tkq.2	-	10	956	c.746T>C	c.(745-747)ATC>ACC	p.I249T	CAMK2B_uc003tkp.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkx.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I249T|CAMK2B_uc003tks.2_Missense_Mutation_p.I249T|CAMK2B_uc003tku.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkv.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkt.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkw.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyc.2_Missense_Mutation_p.I249T	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	249	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						CATCTGGTTGATGAGGTTTTT	0.627		NA											45	95					0	0	0	0
ZNF273	10793	broad.mit.edu	37	7	64363754	64363754	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64363754G>A	uc003tto.2	+	1	135	c.59G>A	c.(58-60)AGA>AAA	p.R20K	ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_Intron	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTATTGGGAGATCCACAGCT	0.597		NA											49	90					0	0	0	0
ZNF273	10793	broad.mit.edu	37	7	64388515	64388515	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64388515C>T	uc003tto.2	+	4	885	c.809C>T	c.(808-810)GCC>GTC	p.A270V	ZNF273_uc003ttl.2_Missense_Mutation_p.A205V|ZNF273_uc003ttn.2_Missense_Mutation_p.A205V	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	270	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGGCAAAGCCTTTAACCAG	0.328		NA											35	76					0	0	0	0
GNAI1	2770	broad.mit.edu	37	7	79764544	79764544	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:79764544T>C	uc003uhb.1	+	1	405	c.68T>C	c.(67-69)CTC>CCC	p.L23P	GNAI1_uc011kgt.1_5'Flank	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	23					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GACCGCAACCTCCGTGAGGAC	0.522		NA											9	12					0	0	0	0
GNAT3	346562	broad.mit.edu	37	7	80091924	80091924	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:80091924C>G	uc011kgu.1	-	6	614	c.614G>C	c.(613-615)AGA>ACA	p.R205T	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	205					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCTCTCAGATCTCTGTCCACC	0.373		NA											5	101					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87214929	87214929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:87214929C>T	uc003uiz.1	-	5	603	c.185G>A	c.(184-186)GGG>GAG	p.G62E	ABCB1_uc011khc.1_Missense_Mutation_p.G62E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	62	ABC transmembrane type-1 1.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGTCCAGCCCCATGGATGAT	0.393		NA											26	58					0	0	0	0
STAG3	10734	broad.mit.edu	37	7	99778218	99778218	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:99778218G>C	uc003utx.1	+	2	194	c.39G>C	c.(37-39)AAG>AAC	p.K13N	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.K13N	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	13					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATACCAAGAGGGCCTTGT	0.522		NA											135	276					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:100678729C>G	uc003uxp.1	+	3	4085	c.4032C>G	c.(4030-4032)GTC>GTG	p.V1344V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1344	Extracellular (Potential).|20.|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)					GTATACCTGTCAACACCACAC	0.458		NA											134	293					0	0	0	0
FBXL13	222235	broad.mit.edu	37	7	102665558	102665558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:102665558C>G	uc003vaq.2	-	6	874	c.447G>C	c.(445-447)GAG>GAC	p.E149D	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149D|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149D|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	149											0						ATTTTAGAGTCTCATCTACAA	0.289		NA											6	36					0	0	0	0
MLL5	55904	broad.mit.edu	37	7	104702697	104702697	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:104702697C>T	uc003vcm.2	+	4	692	c.158C>T	c.(157-159)TCA>TTA	p.S53L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.S53L|MLL5_uc003vcl.2_Missense_Mutation_p.S53L|MLL5_uc010ljc.2_Missense_Mutation_p.S53L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	53					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						TCACATCATTCACACAGTTAC	0.398		NA											59	221					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509918	106509918	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:106509918G>C	uc003vdv.3	+	2	1997	c.1912G>C	c.(1912-1914)GAA>CAA	p.E638Q	PIK3CG_uc003vdu.2_Missense_Mutation_p.E638Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.E638Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	638					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CTTCTCAGATGAAAATGTAAG	0.348		NA											3	110					0	0	0	0
ASZ1	136991	broad.mit.edu	37	7	117060270	117060270	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117060270C>T	uc003vjb.2	-	4	450	c.387G>A	c.(385-387)TTG>TTA	p.L129L	ASZ1_uc011kno.1_Silent_p.L129L|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	129	ANK 3.				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)			CTACACACTTCAAGATCTGTT	0.338		NA											18	120					0	0	0	0
CFTR	1080	broad.mit.edu	37	7	117232003	117232003	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117232003G>A	uc003vjd.2	+	14	1914	c.1782G>A	c.(1780-1782)CTG>CTA	p.L594L	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	594	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTAAACTGATGGCTAACA	0.259		NA							Cystic_Fibrosis				12	108					0	0	0	0
UBN2	254048	broad.mit.edu	37	7	138969091	138969091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:138969091C>G	uc011kqr.1	+	15	3440	c.3440C>G	c.(3439-3441)TCA>TGA	p.S1147*		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1147	Ser-rich.									ovary(1)|skin(1)	2						CAGGCCCCCTCAAAGCTAACA	0.473		NA											3	93					0	0	0	0
CUL1	8454	broad.mit.edu	37	7	148485666	148485666	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:148485666G>C	uc010lpg.2	+	14	2023	c.1497G>C	c.(1495-1497)GAG>GAC	p.E499D	CUL1_uc003wey.2_Missense_Mutation_p.E499D|CUL1_uc003wez.2_Missense_Mutation_p.E389D|CUL1_uc003wfa.2_Missense_Mutation_p.E160D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	499					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCGGGTTCGAGTACACCTCTA	0.398		NA											60	120					0	0	0	0
GALNTL5	168391	broad.mit.edu	37	7	151684344	151684344	+	Silent	SNP	G	G	C	rs140077291		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:151684344G>C	uc003wkp.2	+	5	859	c.636G>C	c.(634-636)CTG>CTC	p.L212L	GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.L101L	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	212	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAGCAAGGCTGATTGGAGCTT	0.468		NA											22	69					0	0	0	0
NEIL2	252969	broad.mit.edu	37	8	11643525	11643525	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:11643525C>G	uc003wug.2	+	5	1417	c.742C>G	c.(742-744)CTC>GTC	p.L248V	NEIL2_uc003wue.2_Missense_Mutation_p.L248V|NEIL2_uc003wuf.2_Missense_Mutation_p.L187V|NEIL2_uc011kxd.1_Missense_Mutation_p.L132V	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	248					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCCCTTTCTCTCGGTTCAGT	0.552		NA						BER_DNA_glycosylases					9	456					0	0	0	0
C8orf79	57604	broad.mit.edu	37	8	12878578	12878578	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:12878578C>T	uc010lsq.2	+	5	882	c.390C>T	c.(388-390)GTC>GTT	p.V130V	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.V43V|C8orf79_uc010lsr.2_Silent_p.V4V	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	130							methyltransferase activity				0						TGGCCAGGGTCTTAGTTCCCG	0.418		NA											3	20					0	0	0	0
PCM1	5108	broad.mit.edu	37	8	17817912	17817912	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:17817912G>C	uc003wyi.3	+	15	2703	c.2281G>C	c.(2281-2283)GAG>CAG	p.E761Q	PCM1_uc011kyh.1_Missense_Mutation_p.E761Q|PCM1_uc003wyj.3_Missense_Mutation_p.E762Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	761	Potential.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		TGACATTCAGGAGAAAATTCA	0.333		NA	T	RET|JAK2	papillary thyroid|CML|MPD								27	63					0	0	0	0
INTS10	55174	broad.mit.edu	37	8	19709251	19709251	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:19709251C>G	uc003wzj.2	+	17	2199	c.2068C>G	c.(2068-2070)CTG>GTG	p.L690V		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	690					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGGAGAGAATCTGATGGTGGT	0.557		NA											18	120					0	0	0	0
FGF17	8822	broad.mit.edu	37	8	21900473	21900473	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:21900473C>G	uc003xag.2	+	1	46	c.34C>G	c.(34-36)CTG>GTG	p.L12V	FGF17_uc003xah.2_Missense_Mutation_p.L12V|FGF17_uc003xai.2_5'Flank	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	12					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAACCTCACTCTGTAAGTGTG	0.657		NA											11	16					0	0	0	0
UNC5D	137970	broad.mit.edu	37	8	35631911	35631911	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:35631911G>T	uc003xjr.1	+	16	2901	c.2573G>T	c.(2572-2574)AGA>ATA	p.R858I	UNC5D_uc003xjs.1_Missense_Mutation_p.R853I|UNC5D_uc003xju.1_Missense_Mutation_p.R434I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	858	Cytoplasmic (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)		TACTCCATCAGACAGCGGATT	0.473		NA											32	83					1.31e-18	1.45e-18	1	0
CPA6	57094	broad.mit.edu	37	8	68419035	68419035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:68419035C>T	uc003xxq.3	-	6	879	c.623G>A	c.(622-624)TGG>TAG	p.W208*	CPA6_uc003xxr.3_Nonsense_Mutation_p.W60*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W208*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	208					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTTTACAAACCACTGACAAAA	0.403		NA											51	69					0	0	0	0
PAG1	55824	broad.mit.edu	37	8	81905367	81905367	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:81905367G>A	uc003ybz.2	-	4	807	c.96C>T	c.(94-96)TTC>TTT	p.F32F		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	32	Helical; Signal-anchor for type III membrane protein; (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAAGATGAGGAAGGTGATGA	0.542		NA											3	56					0	0	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:95507153C>T	uc003ygo.1	-	20	4589	c.4576G>A	c.(4576-4578)GAT>AAT	p.D1526N	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1526					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.308		NA											32	359					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113358362	113358362	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113358362C>G	uc003ynu.2	-	41	6565	c.6406G>C	c.(6406-6408)GAT>CAT	p.D2136H	CSMD3_uc003yns.2_Missense_Mutation_p.D1338H|CSMD3_uc003ynt.2_Missense_Mutation_p.D2096H|CSMD3_uc011lhx.1_Missense_Mutation_p.D2032H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2136	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CATGTGCAATCTAAACTGCTG	0.378		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	234					0	0	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659478	144659478	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:144659478C>T	uc003yym.3	-	4	554	c.529G>A	c.(529-531)GAT>AAT	p.D177N	NAPRT1_uc003yyn.3_Missense_Mutation_p.D177N|NAPRT1_uc011lkh.1_Missense_Mutation_p.D177N|NAPRT1_uc003yyo.3_Missense_Mutation_p.D177N	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	177					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)			AGGCCCCCATCGGGGCCCTGA	0.692		NA											16	4					0	0	0	0
JAK2	3717	broad.mit.edu	37	9	5029862	5029862	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:5029862C>T	uc010mhm.2	+	3	419	c.306C>T	c.(304-306)TTC>TTT	p.F102F	JAK2_uc003ziw.2_Silent_p.F102F	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	102	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACCATGTCTTCCATATAGATG	0.363		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				24	252					0	0	0	0
C9orf131	138724	broad.mit.edu	37	9	35044713	35044713	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35044713C>T	uc003zvw.2	+	2	2116	c.2087C>T	c.(2086-2088)CCA>CTA	p.P696L	C9orf131_uc003zvu.2_Missense_Mutation_p.P648L|C9orf131_uc003zvv.2_Missense_Mutation_p.P623L|C9orf131_uc003zvx.2_Missense_Mutation_p.P661L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	696											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCTCTACCAGAGCCACAC	0.552		NA											14	84					0	0	0	0
TLN1	7094	broad.mit.edu	37	9	35720452	35720452	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35720452C>G	uc003zxt.2	-	12	1615	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	421	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGTCCTCCAGCATAGTA	0.488		NA											44	461					0	0	0	0
POLR1E	64425	broad.mit.edu	37	9	37503070	37503070	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:37503070G>A	uc003zzz.1	+	11	1605	c.1317G>A	c.(1315-1317)CTG>CTA	p.L439L	POLR1E_uc003zzy.1_Silent_p.L377L|POLR1E_uc011lqk.1_Silent_p.L306L|uc004aaa.2_5'Flank	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	439					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCATGAGGCTGAAGATCTCCA	0.542		NA											41	201					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84606906	84606906	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:84606906C>G	uc004amn.2	+	4	1568	c.1521C>G	c.(1519-1521)CTC>CTG	p.L507L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	507						integral to membrane					0						TCTGGGGTCTCCCATCTTTGC	0.438		NA											30	83					0	0	0	0
S1PR3	1903	broad.mit.edu	37	9	91617111	91617111	+	Silent	SNP	C	C	T	rs138808274		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:91617111C>T	uc004aqe.2	+	2	1392	c.996C>T	c.(994-996)CTC>CTT	p.L332L		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	332	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						AGCCTGCGCTCGACCCAAGCA	0.632		NA											6	79					0	0	0	0
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:99227683C>T	uc010msg.2	+	3	725	c.577C>T	c.(577-579)CGC>TGC	p.R193C	HABP4_uc010msh.2_Intron	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483		NA											6	290					0	0	0	0
TRIM14	9830	broad.mit.edu	37	9	100862396	100862396	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:100862396G>C	uc004ayd.2	-	3	372	c.354C>G	c.(352-354)CTC>CTG	p.L118L	TRIM14_uc004ayf.1_Silent_p.L25L|TRIM14_uc004ayg.1_Silent_p.L118L|TRIM14_uc004ayh.1_Silent_p.L118L|TRIM14_uc004ayi.1_Silent_p.L118L|TRIM14_uc004ayj.1_Silent_p.L25L	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	118						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GTAGTAATCTGAGTTCAGTGA	0.373		NA											48	238					0	0	0	0
ANKS6	203286	broad.mit.edu	37	9	101540657	101540657	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:101540657T>C	uc004ayu.2	-	7	1439	c.1418A>G	c.(1417-1419)CAG>CGG	p.Q473R	ANKS6_uc004ayt.2_Missense_Mutation_p.Q172R|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.Q55R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	473										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GGGCAGCGTCTGCATCAGTTT	0.587		NA											31	38					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113243615	113243615	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:113243615C>T	uc010mtz.2	-	12	2609	c.2272G>A	c.(2272-2274)GAT>AAT	p.D758N	SVEP1_uc010mua.1_Missense_Mutation_p.D758N|SVEP1_uc004beu.2_Missense_Mutation_p.D758N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	758	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCTGTGAAATCATAGCCCTCC	0.413		NA											6	45					0	0	0	0
UGCG	7357	broad.mit.edu	37	9	114695273	114695273	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:114695273T>A	uc004bft.2	+	9	1471	c.1181T>A	c.(1180-1182)GTA>GAA	p.V394E		NM_003358	NP_003349	Q16739	CEGT_HUMAN	ceramide glucosyltransferase	394	Cytoplasmic (Potential).				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATCCTAGATGTATAACTACAG	0.333		NA											33	94					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120476116	120476116	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:120476116T>C	uc004bjz.2	+	3	2001	c.1710T>C	c.(1708-1710)AGT>AGC	p.S570S	TLR4_uc004bka.2_Silent_p.S530S|TLR4_uc004bkb.2_Silent_p.S370S	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	570	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTCCAAGTAGTCTAGCTTTCT	0.413		NA											73	60					0	0	0	0
LHX6	26468	broad.mit.edu	37	9	124979413	124979413	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:124979413C>G	uc010mvw.2	-	4	638	c.529G>C	c.(529-531)GAG>CAG	p.E177Q	LHX6_uc004blx.3_Missense_Mutation_p.E206Q|LHX6_uc004bly.3_Missense_Mutation_p.E206Q	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	177	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGCACCTTCTCCTCGACCAGG	0.647		NA											19	108					0	0	0	0
RABGAP1	23637	broad.mit.edu	37	9	125772653	125772653	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:125772653G>C	uc011lzh.1	+	11	1529	c.1395G>C	c.(1393-1395)AAG>AAC	p.K465N	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	465					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GGGAGAGAAAGAATAATACTG	0.318		NA											33	128					0	0	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129856193	129856193	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:129856193T>A	uc004bqr.1	-	3	1330	c.830A>T	c.(829-831)GAC>GTC	p.D277V	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_5'UTR	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	277	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						CTGCAGGCAGTCTCTCCATGG	0.617		NA											38	103					0	0	0	0
LRSAM1	90678	broad.mit.edu	37	9	130253536	130253536	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:130253536G>C	uc004brb.1	+	20	1810	c.1465G>C	c.(1465-1467)GAG>CAG	p.E489Q	LRSAM1_uc010mxk.1_Intron|LRSAM1_uc004brc.1_Missense_Mutation_p.E489Q|LRSAM1_uc004brd.1_Missense_Mutation_p.E489Q|LRSAM1_uc004bre.1_Missense_Mutation_p.E69Q	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	489					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						GACACAGCTGGAGTTAAAGAG	0.483		NA											11	95					0	0	0	0
ZER1	10444	broad.mit.edu	37	9	131515013	131515013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131515013C>T	uc004bwa.1	-	5	1295	c.862G>A	c.(862-864)GGC>AGC	p.G288S		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	288	LRR 3.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						ATCATGTGGCCAGAGATGTCC	0.572		NA											3	78					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3228112	3228112	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:3228112C>A	uc004crg.3	-	7	8289	c.8132G>T	c.(8131-8133)TGC>TTC	p.C2711F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2711	Ig-like C2-type 11.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCCATCCTGCATACATAGGT	0.607		NA											36	112					3.11e-16	3.41e-16	1	0
ARHGAP6	395	broad.mit.edu	37	X	11187736	11187736	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:11187736C>G	uc004cup.1	-	9	2571	c.1698G>C	c.(1696-1698)CAG>CAC	p.Q566H	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q566H|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q363H|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q386H|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q388H|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q363H	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	566	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						CTGATGACTTCTGCTTGTGCA	0.438		NA											29	214					0	0	0	0
GRPR	2925	broad.mit.edu	37	X	16142343	16142343	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:16142343C>T	uc004cxj.2	+	1	920	c.267C>T	c.(265-267)CTC>CTT	p.L89L		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	89	Helical; Name=2; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					ACCTGCTCCTCCTAATAACGT	0.483		NA									OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	349					0	0	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269381	30269381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:30269381C>A	uc004dcc.2	+	4	1091	c.771C>A	c.(769-771)TAC>TAA	p.Y257*	MAGEB1_uc004dcd.2_Nonsense_Mutation_p.Y257*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.Y257*	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	257	MAGE.										0						ATCTGAAGTACGAGCAGGTGC	0.493		NA											35	85					2.42e-17	2.67e-17	1	0
FAM47A	158724	broad.mit.edu	37	X	34148687	34148687	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:34148687G>A	uc004ddg.2	-	1	1742	c.1709C>T	c.(1708-1710)TCG>TTG	p.S570L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	570										ovary(4)|central_nervous_system(1)	5						GGGAGGCTCCGAGAATTGATG	0.522		NA											10	125					0	0	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466624	46466624	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:46466624C>A	uc004dgu.1	-	17	1949	c.1941G>T	c.(1939-1941)CTG>CTT	p.L647L		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	647					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						CTTCCTCTCTCAGTGGCTCTT	0.498		NA											9	78					0.00829132	0.00852692	1	0
GPKOW	27238	broad.mit.edu	37	X	48972603	48972603	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48972603C>G	uc004dmr.2	-	7	995	c.988G>C	c.(988-990)GAG>CAG	p.E330Q		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	330						nucleus	nucleic acid binding			ovary(2)	2						CGCTTCCTCTCTGAGTTGTCC	0.572		NA											11	126					0	0	0	0
CCNB3	85417	broad.mit.edu	37	X	50089689	50089689	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50089689C>T	uc004dox.3	+	10	3991	c.3693C>T	c.(3691-3693)ATC>ATT	p.I1231I	CCNB3_uc004doy.2_Silent_p.I1231I|CCNB3_uc004doz.2_Silent_p.I127I|CCNB3_uc010njq.2_Silent_p.I123I|CCNB3_uc004dpa.2_Silent_p.I70I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1231					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTGTGTACATCTGTGATGATA	0.463		NA											21	189					0	0	0	0
BMP15	9210	broad.mit.edu	37	X	50659550	50659551	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659550_50659551GA>TT	uc011mnw.1	+	2	1122_1123	c.1122_1123GA>TT	c.(1120-1125)GGGAGT>GGTTGT	p.S375C		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	375					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					AGGCAAATGGGAGTATTTTGTA	0.465		NA											61	208					0	0	0	0
FAM120C	54954	broad.mit.edu	37	X	54112314	54112314	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54112314C>T	uc004dsz.3	-	13	2756	c.2673G>A	c.(2671-2673)CAG>CAA	p.Q891Q	FAM120C_uc011moh.1_Intron	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	891										ovary(1)|central_nervous_system(1)	2						CAAGGATGCTCTGTCTCATCT	0.478		NA											54	74					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54319739	54319739	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54319739C>G	uc004dtd.1	-	9	2154	c.1715G>C	c.(1714-1716)GGA>GCA	p.G572A	WNK3_uc004dtc.1_Missense_Mutation_p.G572A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	572					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						TGATGCAGCTCCTGCCTCAGA	0.393		NA											15	118					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54476730	54476730	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54476730C>G	uc004dtg.2	-	13	2754	c.2020G>C	c.(2020-2022)GAG>CAG	p.E674Q	FGD1_uc011moi.1_Missense_Mutation_p.E432Q	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	674	PH 1.				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						TTCTCCTCCTCAGTCCTTGGG	0.393		NA											15	235					0	0	0	0
PFKFB1	5207	broad.mit.edu	37	X	54971904	54971904	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54971904C>G	uc004dty.1	-	10	1137	c.1066G>C	c.(1066-1068)GAT>CAT	p.D356H	PFKFB1_uc010nkd.1_Missense_Mutation_p.D164H|PFKFB1_uc011mol.1_Missense_Mutation_p.D291H	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	356	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						CGATATTTATCTTGGTCTCGC	0.478		NA											5	70					0	0	0	0
BTK	695	broad.mit.edu	37	X	100615599	100615599	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:100615599C>T	uc004ehg.2	-	8	926	c.733G>A	c.(733-735)GAG>AAG	p.E245K	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_Missense_Mutation_p.E245K|BTK_uc010nno.2_Missense_Mutation_p.E279K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.E245K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	245	SH3.				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						TTGCTTTCCTCCAAGATAAAA	0.478		NA							Agammaglobulinemia_X-linked				6	180					0	0	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911992	101911992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:101911992C>T	uc004ejj.3	+	5	3952	c.3151C>T	c.(3151-3153)CAG>TAG	p.Q1051*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1051*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1051*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1051	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						GGTCACTGTTCAGTTCAAGCC	0.532		NA											147	243					0	0	0	0
NRK	203447	broad.mit.edu	37	X	105149322	105149322	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:105149322C>G	uc004emd.2	+	10	1134	c.831C>G	c.(829-831)GTC>GTG	p.V277V	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	277	Protein kinase.						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						CTCCCACAGTCAAATCCAGCG	0.373		NA								HNSCC(51;0.14)			6	35					0	0	0	0
ACSL4	2182	broad.mit.edu	37	X	108904860	108904860	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:108904860G>T	uc004eoi.2	-	15	2225	c.1720C>A	c.(1720-1722)CTA>ATA	p.L574I	ACSL4_uc004eoj.2_Missense_Mutation_p.L533I|ACSL4_uc004eok.2_Missense_Mutation_p.L533I	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	574	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	AACTTCACTAGATCTTTCTTA	0.358		NA											21	143					1.38e-19	1.53e-19	1	0
ARHGAP4	393	broad.mit.edu	37	X	153178174	153178174	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153178174C>T	uc004fjk.1	-	12	1564	c.1522G>A	c.(1522-1524)GAC>AAC	p.D508N	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D485N|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D548N|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	508	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCATGTCTCCCCCAAAG	0.557		NA											44	360					0	0	0	0
OPN1MW	2652	broad.mit.edu	37	X	153496185	153496185	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153496185G>T	uc004fkd.2	+	5	995	c.913G>T	c.(913-915)GCC>TCC	p.A305S		NM_000513	NP_000504	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	305	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGATGGCTGCCCTGCCGGC	0.552		NA											86	365					1.85e-53	2.07e-53	1	0
PLXNA3	55558	broad.mit.edu	37	X	153689684	153689684	+	Silent	SNP	C	C	T	rs149751983		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153689684C>T	uc004flm.2	+	3	1013	c.840C>T	c.(838-840)ATC>ATT	p.I280I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	280	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	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)					AATTCCCCATCGGCTGCTCCT	0.637		NA											27	198					0	0	0	0
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:59812016_59812017insG	uc001czi.3	+	4	623_624	c.411_412insG	c.(409-414)GTCGGGfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137_138					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5		NA											11	68	---	---	---	---	NA	NA	NA	NA
FNDC7	163479	broad.mit.edu	37	1	109275982	109275990	+	In_Frame_Del	DEL	TTACAGCAC	TTACAGCAC	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:109275982_109275990delTTACAGCAC	uc001dvx.2	+	10	1968_1976	c.1968_1976delTTACAGCAC	c.(1966-1977)AATTACAGCACT>AAT	p.YST657del	FNDC7_uc010ova.1_In_Frame_Del_p.YST424del	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	658_660	Fibronectin type-III 8.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCTCTGCCAATTACAGCACTGACCTCTAT	0.531		NA											45	165	---	---	---	---	NA	NA	NA	NA
DENND1B	163486	broad.mit.edu	37	1	197480010	197480011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:197480010_197480011insT	uc010ppe.1	-	22	2185_2186	c.1847_1848insA	c.(1846-1848)AGTfs	p.S616fs	DENND1B_uc010ppf.1_RNA	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						CATGGAGGGCACTATCGTCTTG	0.455		NA											25	81	---	---	---	---	NA	NA	NA	NA
KDM5B	10765	broad.mit.edu	37	1	202742383	202742383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:202742383delA	uc001gyf.2	-	4	555	c.439delT	c.(439-441)TGCfs	p.C147fs	KDM5B_uc009xag.2_Frame_Shift_Del_p.C147fs|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	147	ARID.				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						CTATCCTTGCAAACAACTGCA	0.388		NA											41	87	---	---	---	---	NA	NA	NA	NA
NRIP3	56675	broad.mit.edu	37	11	9009738	9009744	+	Frame_Shift_Del	DEL	TTCGTCT	TTCGTCT	-	rs150007282		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9009738_9009744delTTCGTCT	uc001mhg.2	-	2	374_380	c.260_266delAGACGAA	c.(259-267)AAGACGAACfs	p.K87fs	NRIP3_uc010rbu.1_Frame_Shift_Del_p.K87fs	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	87_89					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ATTGAGTTTGTTCGTCTTAGAGGCCCA	0.483		NA											57	208	---	---	---	---	NA	NA	NA	NA
TFCP2	7024	broad.mit.edu	37	12	51504737	51504739	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:51504737_51504739delGAT	uc001rxw.2	-	5	944_946	c.485_487delATC	c.(484-489)GATCCT>GCT	p.162_163DP>A	TFCP2_uc001rxv.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zlx.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc001rxx.2_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zly.1_In_Frame_Del_p.64_65DP>A	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	162_163	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTAGCCCTAGGATCGATTATACC	0.409		NA											84	234	---	---	---	---	NA	NA	NA	NA
LRPPRC	10128	broad.mit.edu	37	2	44174430	44174430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:44174430delA	uc002rtr.2	-	20	2103	c.2045delT	c.(2044-2046)CTAfs	p.L682fs	LRPPRC_uc010yob.1_Frame_Shift_Del_p.L582fs	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	682	PPR 9.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGTTGCTTTAGGACATCTCT	0.299		NA											26	54	---	---	---	---	NA	NA	NA	NA
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381727	+	Frame_Shift_Del	DEL	CGACAGC	CGACAGC	-	rs138120208		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:144381721_144381727delCGACAGC	uc002tvm.3	+	12	1174_1180	c.1023_1029delCGACAGC	c.(1021-1029)GACGACAGCfs	p.D341fs	ARHGAP15_uc002tvn.2_Frame_Shift_Del_p.D107fs	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	341_343	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGTGGGAGG	0.449		NA											27	47	---	---	---	---	NA	NA	NA	NA
HSPD1	3329	broad.mit.edu	37	2	198353732	198353732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:198353732delC	uc002uui.2	-	9	1346	c.1209delG	c.(1207-1209)GTGfs	p.V403fs	HSPD1_uc002uuj.2_Frame_Shift_Del_p.V401fs|HSPD1_uc010zgx.1_Frame_Shift_Del_p.V394fs|HSPD1_uc010fsm.2_Frame_Shift_Del_p.V214fs|HSPD1_uc002uuk.2_Frame_Shift_Del_p.V403fs	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	403					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)			TTACCTTCAGCACAGCCACTC	0.363		NA											51	133	---	---	---	---	NA	NA	NA	NA
BBX	56987	broad.mit.edu	37	3	107492152	107492152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492152delG	uc010hpr.2	+	11	1911	c.1584delG	c.(1582-1584)AAGfs	p.K528fs	BBX_uc003dwk.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.K549fs|BBX_uc003dwm.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	528	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGCCACCAAAGAAAAAAGTGA	0.448		NA											41	93	---	---	---	---	NA	NA	NA	NA
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs150114751	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137880741_137880743delTCG	uc003erv.2	-	8	1759_1761	c.1623_1625delCGA	c.(1621-1626)GATGAT>GAT	p.541_542DD>D	DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	541_542						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TTAAGCTGCATCGTCATCATCAT	0.251		NA											8	440	---	---	---	---	NA	NA	NA	NA
CCNG2	901	broad.mit.edu	37	4	78081937	78081939	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:78081937_78081939delGAA	uc003hkq.3	+	4	643_645	c.340_342delGAA	c.(340-342)GAAdel	p.E115del	CCNG2_uc003hkn.3_In_Frame_Del_p.E115del|CCNG2_uc011ccc.1_In_Frame_Del_p.E115del|CCNG2_uc003hkp.3_In_Frame_Del_p.E115del	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	cyclin G2	115					cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3						TAGAATAGTTGAAGAAGACTGCA	0.365		NA											71	183	---	---	---	---	NA	NA	NA	NA
CSMD3	114788	broad.mit.edu	37	8	113697953	113697953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113697953delG	uc003ynu.2	-	15	2323	c.2164delC	c.(2164-2166)CTGfs	p.L722fs	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Frame_Shift_Del_p.L682fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.L618fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	722	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGTTAGACAGGCAGGGAACT	0.318		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			108	99	---	---	---	---	NA	NA	NA	NA
PRUNE2	158471	broad.mit.edu	37	9	79320938	79320939	+	Frame_Shift_Ins	INS	-	-	CCAT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:79320938_79320939insCCAT	uc010mpk.2	-	8	6375_6376	c.6251_6252insATGG	c.(6250-6252)GGTfs	p.G2084fs	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2084					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CAGGATTCTCACCATCTGCTTT	0.49		NA											43	269	---	---	---	---	NA	NA	NA	NA
