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
KLHL17	339451	broad.mit.edu	37	1	900538	900538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:900538C>T	uc001aca.1	+	12	2003	c.1896C>T	c.(1894-1896)TCC>TCT	p.S632S	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	632	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCCATCCTCCCCGACGCTGT	0.667		NA											7	17					0	0	0	0
CCNL2	81669	broad.mit.edu	37	1	1322774	1322774	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322774G>A	uc001afi.2	-	11	1432	c.1400C>T	c.(1399-1401)TCC>TTC	p.S467F	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S245F|CCNL2_uc001afg.1_Missense_Mutation_p.S245F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	467					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCGAGAACGGGAAGAACTCCG	0.572		NA											27	83					0	0	0	0
CCNL2	81669	broad.mit.edu	37	1	1322852	1322852	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:1322852G>A	uc001afi.2	-	11	1354	c.1322C>T	c.(1321-1323)TCT>TTT	p.S441F	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S219F|CCNL2_uc001afg.1_Missense_Mutation_p.S219F|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	441					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGAATCTCAGAGCCTTTGTA	0.642		NA											9	28					0	0	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103808	2103808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2103808C>T	uc001aiq.2	+	13	1427	c.1266C>T	c.(1264-1266)ATC>ATT	p.I422I	PRKCZ_uc001air.2_Silent_p.I239I|PRKCZ_uc010nyw.1_Silent_p.I318I|PRKCZ_uc001ais.2_Silent_p.I239I|PRKCZ_uc009vla.2_Silent_p.I246I|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.I270I	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	422	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CCCCCGAAATCCTGCGGGGAG	0.647		NA											4	12					0	0	0	0
SKI	6497	broad.mit.edu	37	1	2234517	2234518	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:2234517_2234518GG>AA	uc001aja.3	+	2	1142_1143	c.1070_1071GG>AA	c.(1069-1071)CGG>CAA	p.R357Q		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	357					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGCTGGCTGCGGACCTTGGCCG	0.639		NA											16	45					0	0	0	0
PRDM16	63976	broad.mit.edu	37	1	3313153	3313154	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:3313153_3313154GG>AA	uc001akf.2	+	5	752_753	c.672_673GG>AA	c.(670-675)CTGGAC>CTAAAC	p.D225N	PRDM16_uc001akc.2_Missense_Mutation_p.D225N|PRDM16_uc001akd.2_Missense_Mutation_p.D225N|PRDM16_uc001ake.2_Missense_Mutation_p.D225N|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	225					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCCCGGCCTGGACGGTAAGAC	0.634		NA	T	EVI1	MDS|AML								4	6					0	0	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536025	6536025	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6536025C>T	uc001ano.1	-	4	384	c.283G>A	c.(283-285)GAG>AAG	p.E95K	PLEKHG5_uc001ann.1_Missense_Mutation_p.E76K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E116K|PLEKHG5_uc001anp.1_Missense_Mutation_p.E116K|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E108K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E39K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E39K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E39K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E39K	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	95	Poly-Glu.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTCCTCCTCCTCCAAGTCC	0.642		NA									OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640991	6640991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6640991G>A	uc009vmc.1	+	2	445	c.322G>A	c.(322-324)GTA>ATA	p.V108I	ZBTB48_uc001anx.2_Missense_Mutation_p.V108I|ZBTB48_uc009vmd.1_Missense_Mutation_p.V108I	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	108						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGAGGCCGTAGAGCTGTG	0.607		NA											6	30					0	0	0	0
ZBTB48	3104	broad.mit.edu	37	1	6642211	6642211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:6642211C>T	uc009vmc.1	+	3	907	c.784C>T	c.(784-786)CGA>TGA	p.R262*	ZBTB48_uc001anx.2_Nonsense_Mutation_p.R262*|ZBTB48_uc009vmd.1_Nonsense_Mutation_p.R262*	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	262						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAATGTAATCCGAAAGCCCTG	0.582		NA											7	20					0	0	0	0
PER3	8863	broad.mit.edu	37	1	7902768	7902768	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:7902768G>A	uc001aoo.2	+	21	3734	c.3559G>A	c.(3559-3561)GGT>AGT	p.G1187S	PER3_uc001aop.2_Missense_Mutation_p.G1196S|PER3_uc010nzw.1_Missense_Mutation_p.G876S	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	1187	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCTGATGGTGCGGCCAC	0.448		NA											17	56					0	0	0	0
UBE4B	10277	broad.mit.edu	37	1	10166447	10166447	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:10166447T>G	uc001aqs.3	+	7	1715	c.1002T>G	c.(1000-1002)ACT>ACG	p.T334T	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	334					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCCCTACACTGTCACTCACC	0.647		NA											18	61					0	0	0	0
MASP2	10747	broad.mit.edu	37	1	11105536	11105536	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11105536T>C	uc001aru.2	-	4	494	c.473A>G	c.(472-474)AAC>AGC	p.N158S	MASP2_uc001arv.2_Missense_Mutation_p.N158S|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.N158S	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	158	EGF-like; calcium-binding.	Calcium 2.			complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCCAGGTGGTTGTGGCAGTG	0.682		NA											12	22					0	0	0	0
CLCN6	1185	broad.mit.edu	37	1	11887266	11887266	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:11887266C>T	uc001ate.3	+	10	941	c.828C>T	c.(826-828)CTC>CTT	p.L276L	CLCN6_uc009vnf.1_Missense_Mutation_p.H280Y|CLCN6_uc009vng.1_Missense_Mutation_p.H268Y|CLCN6_uc009vnh.1_Silent_p.L276L|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.L254L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	276					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAAGGGCTCACGTGGAAAG	0.552		NA											11	45					0	0	0	0
LOC649330	649330	broad.mit.edu	37	1	12907779	12907779	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12907779C>T	uc009vno.2	-	1	459	c.364G>A	c.(364-366)GGG>AGG	p.G122R	HNRNPCL1_uc010obf.1_Missense_Mutation_p.G122R	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	122							nucleic acid binding|nucleotide binding				0						CTGTACATTCCATCATAATAA	0.498		NA											13	61					0	0	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955430	12955430	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:12955430C>T	uc001auo.2	-	2	322	c.249G>A	c.(247-249)AGG>AGA	p.R83R		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	PRAME family member 10	83											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAGTCCCCTCAGGACAG	0.607		NA											15	39					0	0	0	0
CELA2B	51032	broad.mit.edu	37	1	15812401	15812401	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15812401G>A	uc001awl.2	+	6	524	c.499G>A	c.(499-501)GGG>AGG	p.G167R		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	167	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						TTCAGCCAACGGGGCTCTCCC	0.562		NA											39	116					0	0	0	0
FBLIM1	54751	broad.mit.edu	37	1	16093894	16093894	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:16093894C>T	uc001axd.1	+	5	717	c.274C>T	c.(274-276)CTG>TTG	p.L92L	FBLIM1_uc001axe.1_Silent_p.L92L|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.L92L|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	92	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCCTCCTGTCCTGGATGGTGA	0.627		NA											3	27					0	0	0	0
ACTL8	81569	broad.mit.edu	37	1	18149591	18149591	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18149591C>T	uc001bat.2	+	2	304	c.88C>T	c.(88-90)CCG>TCG	p.P30S		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	30						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582		NA											15	36					0	0	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809042	18809042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:18809042C>T	uc001bax.2	+	1	1619	c.1567C>T	c.(1567-1569)CGC>TGC	p.R523C	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R305C	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	523	Kelch 2.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGCTGGCTCGCATGCCCCC	0.672		NA											14	41					0	0	0	0
UBR4	23352	broad.mit.edu	37	1	19447897	19447897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19447897G>A	uc001bbi.2	-	68	9931	c.9927C>T	c.(9925-9927)TTC>TTT	p.F3309F	UBR4_uc001bbk.1_Silent_p.F956F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3309					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582		NA											5	35					0	0	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630782	19630782	+	Silent	SNP	G	G	A	rs148319333		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630782G>A	uc001bbw.2	-	7	1039	c.1017C>T	c.(1015-1017)GTC>GTT	p.V339V	AKR7A2_uc001bbx.2_Silent_p.V304V	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	339					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCATCCACGACAGCCGGCT	0.602		NA											26	42					0	0	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630871	19630871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:19630871C>T	uc001bbw.2	-	7	950	c.928G>A	c.(928-930)GGG>AGG	p.G310R	AKR7A2_uc001bbx.2_Missense_Mutation_p.G275R	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	310					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCGTCCCCGTGGGCACCC	0.647		NA											29	67					0	0	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417131	20417132	+	Silent	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:20417131_20417132CC>TT	uc001bcy.2	+	5	631_632	c.363_364CC>TT	c.(361-366)AACCTA>AATTTA	p.121_122NL>NL	PLA2G5_uc001bcw.2_RNA|PLA2G5_uc001bcx.2_Silent_p.152_153NL>NL	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	121_122					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCAAGAGAAACCTACGGAGCTA	0.54		NA											24	76					0	0	0	0
MAN1C1	57134	broad.mit.edu	37	1	26012975	26012975	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26012975G>A	uc001bkm.2	+	2	915	c.585G>A	c.(583-585)GGG>GGA	p.G195G	MAN1C1_uc009vry.1_Silent_p.G15G	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	195	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGCAATGGGGAAAAACGAAC	0.498		NA											33	95					0	0	0	0
SLC30A2	7780	broad.mit.edu	37	1	26366380	26366380	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26366380G>A	uc001blh.1	-	6	931	c.714C>T	c.(712-714)TTC>TTT	p.F238F	SLC30A2_uc001blg.1_Silent_p.F287F	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 2	238	Cytoplasmic (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GAACAGCTGTGAAGTCAACGC	0.617		NA											7	18					0	0	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26877918	26877918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:26877918G>A	uc001bmr.1	+	5	501	c.338G>A	c.(337-339)AGA>AAA	p.R113K	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R21K|RPS6KA1_uc010off.1_Missense_Mutation_p.R97K|RPS6KA1_uc001bms.1_Missense_Mutation_p.R122K|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	113	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAGATGGAGAGAGACATCCTG	0.567		NA											10	24					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27057646	27057647	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27057646_27057647CC>TT	uc001bmv.1	+	3	1727_1728	c.1354_1355CC>TT	c.(1354-1356)CCT>TTT	p.P452F	ARID1A_uc001bmt.1_Missense_Mutation_p.P452F|ARID1A_uc001bmu.1_Missense_Mutation_p.P452F|ARID1A_uc001bmw.1_Missense_Mutation_p.P69F	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	452					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)		CCTACAGATTCCTCCTTATGGA	0.47		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								35	124					0	0	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27176873	27176873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27176873C>T	uc001bnb.2	+	4	823	c.728C>T	c.(727-729)TCC>TTC	p.S243F	ZDHHC18_uc010ofh.1_Missense_Mutation_p.S108F	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	243	Helical; (Potential).					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TTTATTCTCTCCCTCTCATTC	0.582		NA											13	47					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27190366	27190366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190366G>A	uc001bnc.1	+	1	734	c.663G>A	c.(661-663)CAG>CAA	p.Q221Q	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	221					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)		TCATCATGCAGCTGCTGCGAG	0.637		NA											25	57					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27190376	27190376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27190376G>A	uc001bnc.1	+	1	744	c.673G>A	c.(673-675)GAC>AAC	p.D225N	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	225					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)		GCTGCTGCGAGACAACCTGAC	0.652		NA											18	53					0	0	0	0
NR0B2	8431	broad.mit.edu	37	1	27240329	27240329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:27240329G>A	uc001bnf.2	-	1	239	c.103C>T	c.(103-105)CCC>TCC	p.P35S		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	35					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor 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)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCTACGGGGTCGGGGGACA	0.662		NA											6	41					0	0	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678090	32678090	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32678090G>A	uc001bun.2	+	5	528	c.528_splice	c.e5-1	p.K176_splice		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B						intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCTCCCAGACTCTGCACC	0.562		NA											9	20					0	0	0	0
LCK	3932	broad.mit.edu	37	1	32742008	32742008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:32742008G>A	uc001bux.2	+	8	840	c.702G>A	c.(700-702)TGG>TGA	p.W234*	LCK_uc001buy.2_Nonsense_Mutation_p.W234*|LCK_uc001buz.2_Nonsense_Mutation_p.W234*|LCK_uc010ohc.1_Nonsense_Mutation_p.W278*|LCK_uc001bva.2_Intron	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	234	Interaction with PTPRH.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGCCGTGGTGGGAGGACGAGT	0.662		NA	T	TRB@	T-ALL								6	21					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34554764	34554764	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:34554764G>A	uc001bxn.1	-	2	127	c.98C>T	c.(97-99)CCC>CTC	p.P33L	CSMD2_uc001bxm.1_Missense_Mutation_p.P73L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	33	CUB 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTCCCATTGGGACCGTGCAG	0.532		NA											8	23					0	0	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476584	35476584	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:35476584C>G	uc001byh.2	-	9	1344	c.1116G>C	c.(1114-1116)CAG>CAC	p.Q372H	ZMYM6_uc001byf.1_Missense_Mutation_p.Q372H|ZMYM6_uc010oht.1_Missense_Mutation_p.Q275H|ZMYM6_uc009vup.2_Missense_Mutation_p.Q178H|ZMYM6_uc009vuq.1_Missense_Mutation_p.Q372H|ZMYM6_uc009vur.1_Missense_Mutation_p.Q178H	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	372	MYM-type 5.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCACTTGGCCCTGAGACAGGG	0.493		NA											15	37					0	0	0	0
COL8A2	1296	broad.mit.edu	37	1	36564591	36564591	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:36564591G>A	uc001bzv.1	-	2	698	c.691C>T	c.(691-693)CCT>TCT	p.P231S	COL8A2_uc001bzw.1_Missense_Mutation_p.P166S	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	231	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGACCAGGGAGGCCGGGG	0.716		NA											7	8					0	0	0	0
ZNF643	65243	broad.mit.edu	37	1	40929143	40929143	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:40929143T>A	uc001cfn.1	+	5	1784	c.1487T>A	c.(1486-1488)ATT>AAT	p.I496N	ZNF643_uc001cfl.1_Missense_Mutation_p.I394N|ZNF643_uc001cfm.1_Missense_Mutation_p.I362N	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	zinc finger protein 643	496	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			CATCAGAGAATTCATACTGGA	0.378		NA											11	36					0	0	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483465	41483465	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:41483465G>A	uc001cgm.1	-	3	1019	c.799C>T	c.(799-801)CTG>TTG	p.L267L	SLFNL1_uc009vwf.1_Silent_p.L267L|SLFNL1_uc001cgn.1_Silent_p.L208L|SLFNL1_uc009vwg.1_Silent_p.L267L	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	267	ATP (Potential).						ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCTGCACCAGGCCGCTGTCC	0.662		NA											5	31					0	0	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880386	42880386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:42880386G>A	uc001chi.2	+	5	1055	c.917G>A	c.(916-918)AGG>AAG	p.R306K		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	306					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CTGCCAAATAGGCAGACTGGA	0.532		NA											24	59					0	0	0	0
WDR65	149465	broad.mit.edu	37	1	43675661	43675661	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43675661C>T	uc001cip.1	+	11	2124	c.2003C>T	c.(2002-2004)TCC>TTC	p.S668F	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Intron|WDR65_uc001ciq.1_Missense_Mutation_p.S668F	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	Error:Variant_position_missing_in_Q96MR6_after_alignment										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCAACCTCCCAATGTCTT	0.438		NA											19	66					0	0	0	0
MED8	112950	broad.mit.edu	37	1	43853231	43853231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43853231G>A	uc001cjg.3	-	3	261	c.213C>T	c.(211-213)TTC>TTT	p.F71F	MED8_uc001cje.1_Silent_p.F71F|MED8_uc001cjf.3_5'UTR|C1orf84_uc001cjh.2_5'Flank|C1orf84_uc001cji.1_5'Flank|KIAA0467_uc009vws.1_5'Flank	NM_201542	NP_963836	Q96G25	MED8_HUMAN	mediator complex subunit 8 isoform 1	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGTTACGGAACAGCGGTG	0.463		NA											15	35					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43897985	43897985	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:43897985G>A	uc001cjk.1	+	22	3082	c.2620G>A	c.(2620-2622)GAC>AAC	p.D874N		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1773						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTTCTTGAAGACCCTGACAG	0.587		NA											56	191					0	0	0	0
DPH2	1802	broad.mit.edu	37	1	44437418	44437418	+	Missense_Mutation	SNP	C	C	T	rs139555604	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:44437418C>T	uc001ckz.2	+	4	1039	c.844C>T	c.(844-846)CGC>TGC	p.R282C	DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.R147C|DPH2_uc001clb.2_Missense_Mutation_p.R206C	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	282					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGAGATGCCCGCGTGGTAGG	0.622		NA											12	37					0	0	0	0
PTCH2	8643	broad.mit.edu	37	1	45292235	45292235	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:45292235G>C	uc010olf.1	-	18	2913	c.2901C>G	c.(2899-2901)GCC>GCG	p.A967A	PTCH2_uc010olg.1_Silent_p.A665A	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	967	Helical; (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)					GGATGCAGACGGCCAGCAGGA	0.657		NA							Basal_Cell_Nevus_syndrome				9	22					0	0	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614402	47614402	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47614402C>T	uc001cqv.1	+	12	1544	c.1493C>T	c.(1492-1494)TCC>TTC	p.S498F		NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	498						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			skin(2)|ovary(1)|breast(1)	4						GTGTTGAAATCCAAAAATGGA	0.582		NA											17	63					0	0	0	0
TAL1	6886	broad.mit.edu	37	1	47685629	47685629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:47685629C>T	uc001cqx.2	-	4	1336	c.759G>A	c.(757-759)CGG>CGA	p.R253R	TAL1_uc009vyq.2_Missense_Mutation_p.G10E|TAL1_uc001cqy.2_Silent_p.R253R	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	253					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						CAGTCTTGGCCCGCTGGGTGC	0.507		NA	T	TRD@|SIL	lymphoblastic leukemia/biphasic								5	12					0	0	0	0
ORC1L	4998	broad.mit.edu	37	1	52841197	52841197	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:52841197G>A	uc001ctt.2	-	15	2427	c.2208C>T	c.(2206-2208)TCC>TCT	p.S736S	ORC1L_uc010oni.1_Silent_p.S731S|ORC1L_uc001ctu.2_Silent_p.S736S|ORC1L_uc009vzd.2_Silent_p.S490S	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	736	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GCTTCTGCTGGGAGAACTCAC	0.517		NA											18	51					0	0	0	0
GPX7	2882	broad.mit.edu	37	1	53074034	53074035	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:53074034_53074035GG>AA	uc001cue.2	+	3	540_541	c.501_502GG>AA	c.(499-504)GAGGTC>GAAATC	p.V168I		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	168					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	CAGTGGAGGAGGTCAGACCCCA	0.574		NA											12	67					0	0	0	0
TTC22	55001	broad.mit.edu	37	1	55252653	55252653	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:55252653C>A	uc009vzt.1	-	4	940	c.835G>T	c.(835-837)GAC>TAC	p.D279Y	TTC22_uc001cxz.3_Missense_Mutation_p.D279Y	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	279	TPR 4.						binding				0						TCTAGAGGGTCGGTCCCTGAG	0.642		NA											6	8					0.00116845	0.00118027	1	0
INADL	10207	broad.mit.edu	37	1	62503685	62503685	+	Silent	SNP	C	C	A	rs35421196		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:62503685C>A	uc001dab.2	+	30	4110	c.3996C>A	c.(3994-3996)CCC>CCA	p.P1332P	INADL_uc009waf.1_Silent_p.P1332P|INADL_uc001daa.2_Silent_p.P1332P|INADL_uc001dad.3_Silent_p.P1029P|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.P116P|INADL_uc009wag.2_Silent_p.P116P|INADL_uc010oou.1_Silent_p.P5P	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1332					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CCGTTACTCCCTTTCCAGTGC	0.393		NA											16	40					9.17e-09	9.4e-09	1	0
RAVER2	55225	broad.mit.edu	37	1	65255158	65255158	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:65255158C>T	uc001dbs.1	+	5	1144	c.1066C>T	c.(1066-1068)CTT>TTT	p.L356F	RAVER2_uc001dbt.1_Missense_Mutation_p.L235F|RAVER2_uc010opb.1_Missense_Mutation_p.L235F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	356						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						GTTGCAAGTTCTTCTACAGCC	0.368		NA											18	41					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66031281	66031281	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:66031281A>T	uc001dci.2	+	3	235	c.33A>T	c.(31-33)TTA>TTT	p.L11F	LEPR_uc001dcg.2_Missense_Mutation_p.L11F|LEPR_uc001dch.2_Missense_Mutation_p.L11F|LEPR_uc009waq.2_Missense_Mutation_p.L11F|LEPR_uc001dcj.2_Missense_Mutation_p.L11F|LEPR_uc001dck.2_Missense_Mutation_p.L11F	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	11					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGTTTTGTTACATTGGGGTA	0.323		NA											10	41					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75037433	75037433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75037433C>T	uc001dgg.2	-	14	4180	c.3961G>A	c.(3961-3963)GAA>AAA	p.E1321K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1321	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCTTCTCCTTCCATGTCCCCG	0.562		NA											22	79					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75038398	75038398	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75038398C>T	uc001dgg.2	-	14	3215	c.2996G>A	c.(2995-2997)GGA>GAA	p.G999E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	999	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CTCTGCCTCTCCTGTGAAGGG	0.537		NA											17	40					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:75072544C>T	uc001dgg.2	-	10	1449	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.P204P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	410										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCCTAGATTTCGGCAAAGACG	0.413		NA											25	84					0	0	0	0
PIGK	10026	broad.mit.edu	37	1	77627083	77627083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:77627083G>A	uc001dhk.2	-	8	755	c.710C>T	c.(709-711)CCT>CTT	p.P237L	PIGK_uc010orj.1_Missense_Mutation_p.P161L|PIGK_uc009wbx.2_Missense_Mutation_p.P143L|PIGK_uc001dhl.1_Missense_Mutation_p.P237L	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	237	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TGCAGGATCAGGTTGATGCTA	0.313		NA											8	25					0	0	0	0
LPHN2	23266	broad.mit.edu	37	1	82408872	82408872	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:82408872G>A	uc001dit.3	+	6	798	c.617G>A	c.(616-618)CGA>CAA	p.R206Q	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.R206Q|LPHN2_uc001div.2_Missense_Mutation_p.R206Q|LPHN2_uc009wcd.2_Missense_Mutation_p.R206Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	206	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTCCAAATCGAGTAGATGGT	0.363		NA											20	28					0	0	0	0
MCOLN3	55283	broad.mit.edu	37	1	85486956	85486956	+	Missense_Mutation	SNP	G	G	A	rs139077973		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:85486956G>A	uc001dkp.2	-	12	1417	c.1324C>T	c.(1324-1326)CGT>TGT	p.R442C	MCOLN3_uc001dko.2_Missense_Mutation_p.R61C|MCOLN3_uc001dkq.2_Missense_Mutation_p.R386C	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	442						integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTCAGAGAACGAAACTGGAAA	0.368		NA											15	49					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86315049	86315049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86315049C>T	uc001dlj.2	-	38	3383	c.3341G>A	c.(3340-3342)CGT>CAT	p.R1114H	COL24A1_uc001dli.2_Missense_Mutation_p.R250H|COL24A1_uc010osd.1_Missense_Mutation_p.R414H|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1114					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCTGGACGACCTCTTTG	0.348		NA											21	83					0	0	0	0
CLCA1	1179	broad.mit.edu	37	1	86939149	86939149	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:86939149G>A	uc001dlt.2	+	2	341	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	CLCA1_uc001dls.1_Intron	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	71					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ACAGGAAAGCGATTTTATTTC	0.358		NA											17	31					0	0	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448465	89448465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:89448465G>A	uc009wcx.2	-	3	1761	c.1045C>T	c.(1045-1047)CCC>TCC	p.P349S	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.P349S	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.						nucleotide binding|RNA binding				0						ACAGAAGGGGGAAGCCCTCTT	0.537		NA											47	133					0	0	0	0
TGFBR3	7049	broad.mit.edu	37	1	92187698	92187698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92187698G>A	uc001doh.2	-	8	1355	c.889C>T	c.(889-891)CCT>TCT	p.P297S	TGFBR3_uc009wde.2_Missense_Mutation_p.P75S|TGFBR3_uc010osy.1_Missense_Mutation_p.P255S|TGFBR3_uc001doi.2_Missense_Mutation_p.P297S|TGFBR3_uc001doj.2_Missense_Mutation_p.P297S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	297	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATACTGTTAGGAGCCTGAAGA	0.308		NA											11	26					0	0	0	0
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:92709803G>A	uc001doq.2	+	4	262	c.190G>A	c.(190-192)GAA>AAA	p.E64K	C1orf146_uc010ote.1_Missense_Mutation_p.E5K	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN	hypothetical protein LOC388649	64										ovary(1)	1		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299		NA											13	35					0	0	0	0
ABCA4	24	broad.mit.edu	37	1	94487499	94487499	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:94487499C>T	uc001dqh.2	-	33	4780	c.4676G>A	c.(4675-4677)GGA>GAA	p.G1559E		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1559	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G1559*(1)		ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATGGAAATTCCTCCATACCT	0.512		NA											8	36					0	0	0	0
FRRS1	391059	broad.mit.edu	37	1	100212952	100212952	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100212952G>A	uc001dsh.1	-	4	833	c.231C>T	c.(229-231)CTC>CTT	p.L77L		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	stromal cell derived factor receptor 2 homolog	77	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			skin(1)	1		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GCGCTTCTAGGAGAAAGCCTT	0.388		NA											39	99					0	0	0	0
DBT	1629	broad.mit.edu	37	1	100715333	100715333	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:100715333C>T	uc001dta.2	-	1	77	c.44G>A	c.(43-45)GGG>GAG	p.G15E	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	15					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TACCAGCTTCCCCGCATTCCT	0.582		NA											9	41					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103412481	103412481	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103412481G>A	uc001dul.2	-	42	3518	c.3200C>T	c.(3199-3201)ACA>ATA	p.T1067I	COL11A1_uc001duk.2_Missense_Mutation_p.T263I|COL11A1_uc001dum.2_Missense_Mutation_p.T1079I|COL11A1_uc001dun.2_Missense_Mutation_p.T1028I|COL11A1_uc009weh.2_Missense_Mutation_p.T951I	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1067	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGGCCAGCTGTACCTGCTGA	0.458		NA											3	19					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103427456	103427456	+	Missense_Mutation	SNP	C	C	T	rs149000575		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103427456C>T	uc001dul.2	-	41	3452	c.3134G>A	c.(3133-3135)GGA>GAA	p.G1045E	COL11A1_uc001duk.2_Missense_Mutation_p.G241E|COL11A1_uc001dum.2_Missense_Mutation_p.G1057E|COL11A1_uc001dun.2_Missense_Mutation_p.G1006E|COL11A1_uc009weh.2_Missense_Mutation_p.G929E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1045	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTCCCCTCCTTTCAGTCC	0.388		NA											5	36					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103548459	103548459	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:103548459C>T	uc001dul.2	-	2	494	c.176G>A	c.(175-177)GGA>GAA	p.G59E	COL11A1_uc001dum.2_Missense_Mutation_p.G59E|COL11A1_uc001dun.2_Missense_Mutation_p.G59E|COL11A1_uc009weh.2_Missense_Mutation_p.G59E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	59	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTGCAAAATCCCGTTGTTTT	0.373		NA											20	48					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109793177	109793177	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:109793177G>A	uc001dxa.3	+	1	537	c.476G>A	c.(475-477)GGG>GAG	p.G159E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	159	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCAGGGCAGGGGAAAGGTCA	0.642		NA											7	27					0	0	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051361	110051361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110051361G>A	uc001dxx.3	-	2	556	c.174C>T	c.(172-174)TCC>TCT	p.S58S		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	58	LRRNT.|Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AACTGGGCAAGGAATGGGGCA	0.642		NA											8	30					0	0	0	0
FAM40A	85369	broad.mit.edu	37	1	110590435	110590435	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110590435A>T	uc001dza.1	+	15	1624	c.1605A>T	c.(1603-1605)TCA>TCT	p.S535S	FAM40A_uc001dyz.1_Silent_p.S440S|FAM40A_uc009wfp.1_Silent_p.S359S	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	535						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		CACCCACCTCAAAAGCCAAAA	0.502		NA											2	2					0	0	0	0
KCNC4	3749	broad.mit.edu	37	1	110754452	110754452	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:110754452C>T	uc001dzh.2	+	1	388	c.331C>T	c.(331-333)CGC>TGC	p.R111C	KCNC4_uc001dzf.2_Missense_Mutation_p.R111C|KCNC4_uc009wfr.2_Missense_Mutation_p.R111C|KCNC4_uc001dzg.2_Missense_Mutation_p.R111C|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	111	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACTACTACCGCACCGGCAA	0.493		NA											13	31					0	0	0	0
KCNA2	3737	broad.mit.edu	37	1	111147020	111147020	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111147020C>T	uc001dzu.2	-	2	881	c.385G>A	c.(385-387)GAT>AAT	p.D129N	KCNA2_uc009wfv.1_Missense_Mutation_p.D129N|KCNA2_uc009wfw.2_Missense_Mutation_p.D129N	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	129						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TAGCCTTCATCTTCCCGAAAC	0.488		NA											11	37					0	0	0	0
KCNA3	3738	broad.mit.edu	37	1	111216580	111216580	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111216580G>A	uc001dzv.1	-	1	1076	c.852C>T	c.(850-852)TCC>TCT	p.S284S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	284						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCTGCGCGGGACCCCGACG	0.627		NA											11	54					0	0	0	0
CHIA	27159	broad.mit.edu	37	1	111861776	111861776	+	Missense_Mutation	SNP	G	G	A	rs139812869	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:111861776G>A	uc001eas.2	+	10	1053	c.950G>A	c.(949-951)GGA>GAA	p.G317E	CHIA_uc001ear.2_Missense_Mutation_p.G209E|CHIA_uc001eaq.2_Missense_Mutation_p.G209E|CHIA_uc009wgc.2_Missense_Mutation_p.G209E|CHIA_uc001eat.2_Missense_Mutation_p.G156E|CHIA_uc001eav.2_Missense_Mutation_p.G156E|CHIA_uc001eau.2_Missense_Mutation_p.G156E|CHIA_uc009wgd.2_Missense_Mutation_p.G156E	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	317					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCCACTCAGGGATGGGATGCC	0.408		NA											10	42					0	0	0	0
MOV10	4343	broad.mit.edu	37	1	113239079	113239079	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:113239079C>T	uc001eck.2	+	13	2174	c.1904C>T	c.(1903-1905)CCC>CTC	p.P635L	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.P635L|MOV10_uc001ecm.2_Missense_Mutation_p.P575L|MOV10_uc009wgj.1_3'UTR	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	635					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GCCCAGTTTCCCATTGATCAC	0.572		NA											22	79					0	0	0	0
CSDE1	7812	broad.mit.edu	37	1	115280598	115280598	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115280598G>C	uc001efk.2	-	4	761	c.295C>G	c.(295-297)CGA>GGA	p.R99G	CSDE1_uc001efi.2_Missense_Mutation_p.R145G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.R99G|CSDE1_uc001efm.2_Missense_Mutation_p.R145G|CSDE1_uc009wgv.2_Missense_Mutation_p.R99G|CSDE1_uc001efn.2_Missense_Mutation_p.R99G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	99					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTCATTCGTTCTTCAGGG	0.398		NA											11	54					0	0	0	0
SYCP1	6847	broad.mit.edu	37	1	115456614	115456614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:115456614G>A	uc001efr.2	+	20	1875	c.1666G>A	c.(1666-1668)GAA>AAA	p.E556K	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.E556K|SYCP1_uc009wgw.2_Missense_Mutation_p.E556K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	556	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGCAAGAAGAAAGGATGTT	0.244		NA											9	28					0	0	0	0
IGSF3	3321	broad.mit.edu	37	1	117122029	117122029	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117122029G>C	uc001egr.1	-	10	4024	c.3319C>G	c.(3319-3321)CGT>GGT	p.R1107G	IGSF3_uc001egq.1_Missense_Mutation_p.R1127G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1107	Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCTAGAACACGGATGCCGATG	0.507		NA											14	61					0	0	0	0
VTCN1	79679	broad.mit.edu	37	1	117699529	117699529	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:117699529T>A	uc001ehb.2	-	3	184	c.112A>T	c.(112-114)ACA>TCA	p.T38S	VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	38	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTAGTGACTGTGATGGAGTGT	0.473		NA											15	38					0	0	0	0
TBX15	6913	broad.mit.edu	37	1	119427862	119427863	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119427862_119427863GG>AA	uc001ehl.1	-	8	1298_1299	c.983_984CC>TT	c.(982-984)CCC>CTT	p.P328L	TBX15_uc009whj.1_Missense_Mutation_p.P152L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGTTTCAGAGGGCTGAGTGGC	0.574		NA											11	32					0	0	0	0
TBX15	6913	broad.mit.edu	37	1	119466122	119466122	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119466122C>T	uc001ehl.1	-	5	795	c.480G>A	c.(478-480)GGG>GGA	p.G160G		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	266	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGTTTTCACCCCATCCCCAA	0.488		NA											14	38					0	0	0	0
WARS2	10352	broad.mit.edu	37	1	119575733	119575733	+	Missense_Mutation	SNP	G	G	A	rs140469836		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:119575733G>A	uc001ehn.2	-	6	912	c.884C>T	c.(883-885)GCG>GTG	p.A295V	WARS2_uc010oxf.1_Missense_Mutation_p.A201V|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.A238V|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	295					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTTCATGCCCGCGCTGCGGCG	0.597		NA											16	48					0	0	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767641	143767641	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:143767641G>A	uc001ejt.2	-	1	241	c.208C>T	c.(208-210)CCT>TCT	p.P70S		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	70	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						GTGCCATTAGGGTGTGTGAAG	0.468		NA											38	253					0	0	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075855	145075855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:145075855C>T	uc001emh.2	-	1	225	c.8G>A	c.(7-9)GGC>GAC	p.G3D	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.G3D|PDE4DIP_uc001emk.2_Missense_Mutation_p.G3D	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGTCTGTGCCCTTCATGGA	0.672		NA	T	PDGFRB	MPD								5	58					0	0	0	0
ACP6	51205	broad.mit.edu	37	1	147131114	147131114	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:147131114G>A	uc001epr.2	-	4	984	c.520C>T	c.(520-522)CGT>TGT	p.R174C	ACP6_uc009wjj.1_Missense_Mutation_p.R131C	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	174					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					AGCAAACAACGGGTGGACTCC	0.423		NA											24	112					0	0	0	0
PRPF3	9129	broad.mit.edu	37	1	150300844	150300844	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150300844C>T	uc001eum.3	+	4	504	c.342C>T	c.(340-342)CCC>CCT	p.P114P	PRPF3_uc009wlo.2_Silent_p.P114P|PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.P73P|PRPF3_uc010pcb.1_Intron	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	114					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GACGAATACCCCGTTTTGAGG	0.498		NA											25	134					0	0	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150527914	150527914	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:150527914C>T	uc001eux.2	+	8	1480	c.1244C>T	c.(1243-1245)TCC>TTC	p.S415F	ADAMTSL4_uc001euw.2_Missense_Mutation_p.S415F|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.S438F|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.S438F|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	415					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCAGGGCTCCCAGCGCTGT	0.627		NA											9	7					0	0	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131544	151131545	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151131544_151131545GG>AA	uc001ewx.2	+	2	497_498	c.371_372GG>AA	c.(370-372)CGG>CAA	p.R124Q		NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein	124					innate immune response						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCGAGTGCCGGGATGTGCTGC	0.604		NA											11	38					0	0	0	0
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151316355C>T	uc001exv.1	-	9	773	c.559G>A	c.(559-561)GAA>AAA	p.E187K	RFX5_uc001exw.1_Missense_Mutation_p.E187K|RFX5_uc009wmr.1_Missense_Mutation_p.E187K|RFX5_uc010pcx.1_Missense_Mutation_p.E147K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532		NA											10	41					0	0	0	0
RORC	6097	broad.mit.edu	37	1	151785525	151785525	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:151785525C>T	uc001ezh.2	-	9	1291	c.1183G>A	c.(1183-1185)GAG>AAG	p.E395K	RORC_uc001ezg.2_Missense_Mutation_p.E374K|RORC_uc010pdo.1_Missense_Mutation_p.E449K|RORC_uc010pdp.1_Missense_Mutation_p.E383K	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	395	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGATGAGCTCGCTGCAGCCT	0.532		NA											4	25					0	0	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058789	152058789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152058789G>A	uc001ezo.1	-	3	1434	c.1369C>T	c.(1369-1371)CCT>TCT	p.P457S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	457							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCAAGTTCAGGGTGAGTCTGA	0.448		NA											93	156					0	0	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059445	152059445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152059445G>A	uc001ezo.1	-	3	778	c.713C>T	c.(712-714)CCA>CTA	p.P238L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	238							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTCTGGCTGGTTCATCTCC	0.453		NA											30	123					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187529	152187529	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187529C>T	uc001ezt.1	-	3	6652	c.6576G>A	c.(6574-6576)TCG>TCA	p.S2192S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2192	24				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGTGCCCCGAACCGGACC	0.637		NA											26	421					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187634	152187634	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152187634G>A	uc001ezt.1	-	3	6547	c.6471C>T	c.(6469-6471)TCC>TCT	p.S2157S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2157	24				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCATAGCGGGAAGACGAAC	0.617		NA											20	880					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152188145	152188145	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188145G>A	uc001ezt.1	-	3	6036	c.5960C>T	c.(5959-5961)TCT>TTT	p.S1987F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1987	22				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAAGCCAGAAGAGTGACCGGA	0.577		NA											17	484					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152188177	152188177	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152188177G>A	uc001ezt.1	-	3	6004	c.5928C>T	c.(5926-5928)AGC>AGT	p.S1976S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1976	22				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGCCACGGCTGGAAGACC	0.602		NA											14	674					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152191169	152191169	+	Missense_Mutation	SNP	G	G	A	rs144088764		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152191169G>A	uc001ezt.1	-	3	3012	c.2936C>T	c.(2935-2937)TCG>TTG	p.S979L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	979	11				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGACGAACCTGAGCT	0.577		NA											62	252					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152278924	152278924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152278924C>T	uc001ezu.1	-	3	8474	c.8438G>A	c.(8437-8439)GGG>GAG	p.G2813E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2813	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGATGGGACCCTGAGTGTCC	0.572		NA							Ichthyosis				51	439					0	0	0	0
FLG2	388698	broad.mit.edu	37	1	152326846	152326846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:152326846G>A	uc001ezw.3	-	3	3489	c.3416C>T	c.(3415-3417)TCT>TTT	p.S1139F	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1139	Ser-rich.|Filaggrin 4.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAAAGCCAGAGGATTTACC	0.537		NA											47	221					0	0	0	0
LELP1	149018	broad.mit.edu	37	1	153177418	153177418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153177418C>T	uc001fbl.2	+	2	345	c.235C>T	c.(235-237)CCT>TCT	p.P79S		NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	79	Cys/Pro-rich.									ovary(1)	1	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGCCCTGTCCTCCTAAATG	0.632		NA											4	40					0	0	0	0
S100A1	6271	broad.mit.edu	37	1	153604235	153604235	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:153604235G>A	uc001fck.1	+	3	316	c.203G>A	c.(202-204)GGG>GAG	p.G68E	C1orf77_uc001fcm.1_5'Flank|C1orf77_uc001fcn.1_5'Flank|S100A13_uc001fcj.2_Intron|S100A1_uc001fcl.1_RNA|C1orf77_uc009woi.1_5'Flank|C1orf77_uc009woj.1_5'Flank	NM_006271	NP_006262	P23297	S10A1_HUMAN	S100 calcium binding protein A1	68	2; high affinity.|EF-hand 2.				intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AATGGAGACGGGGAGGTGGAC	0.542		NA											49	232					0	0	0	0
IL6R	3570	broad.mit.edu	37	1	154401817	154401817	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154401817G>A	uc001fez.1	+	2	668	c.231G>A	c.(229-231)ATG>ATA	p.M77I	IL6R_uc001ffa.1_Missense_Mutation_p.M77I	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	77	Extracellular (Potential).|Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCTGGCATGGGAAGGAGGC	0.647		NA											12	31					0	0	0	0
FLAD1	80308	broad.mit.edu	37	1	154962042	154962042	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:154962042C>T	uc001fgf.1	+	3	1478	c.1124C>T	c.(1123-1125)TCT>TTT	p.S375F	FLAD1_uc001fgd.1_Missense_Mutation_p.S375F|FLAD1_uc001fge.1_Missense_Mutation_p.S278F|FLAD1_uc001fgg.1_Missense_Mutation_p.S278F|FLAD1_uc001fgh.1_Intron	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	375					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGGTCTTCTTTGGGGAAA	0.463		NA											15	80					0	0	0	0
CLK2	1196	broad.mit.edu	37	1	155236562	155236563	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155236562_155236563GG>AA	uc001fjy.2	-	7	1085_1086	c.795_796CC>TT	c.(793-798)CACCAA>CATTAA	p.Q266*	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Nonsense_Mutation_p.Q265*|CLK2_uc001fjx.2_Nonsense_Mutation_p.Q38*|CLK2_uc009wqm.2_Nonsense_Mutation_p.Q266*	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	266	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCGCACTTGGTGGATGGGGT	0.559		NA						Other_conserved_DNA_damage_response_genes					16	22					0	0	0	0
HCN3	57657	broad.mit.edu	37	1	155254458	155254458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155254458C>T	uc001fjz.1	+	4	1007	c.999C>T	c.(997-999)ATC>ATT	p.I333I	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	333	Helical; Name=Segment S6; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGCATGATCGTAGGTGCCA	0.597		NA											8	27					0	0	0	0
GON4L	54856	broad.mit.edu	37	1	155727075	155727076	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:155727075_155727076GG>AA	uc001flz.2	-	26	5389_5390	c.5292_5293CC>TT	c.(5290-5295)GACCAC>GATTAC	p.H1765Y	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.H1765Y|GON4L_uc009wrh.1_Missense_Mutation_p.H1765Y|GON4L_uc001fma.1_Missense_Mutation_p.H1765Y|GON4L_uc001fmb.3_Missense_Mutation_p.H961Y	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1765	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGGTGGTCGTGGCCCT	0.53		NA											14	81					0	0	0	0
SEMA4A	64218	broad.mit.edu	37	1	156145017	156145017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156145017C>T	uc001fnl.2	+	13	1679	c.1575C>T	c.(1573-1575)CTC>CTT	p.L525L	SEMA4A_uc009wrq.2_Silent_p.L525L|SEMA4A_uc001fnm.2_Silent_p.L525L|SEMA4A_uc001fnn.2_Silent_p.L393L|SEMA4A_uc001fno.2_Silent_p.L525L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	525	Extracellular (Potential).|PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCTGTTGCCTCCTGTCTGCCC	0.617		NA											36	133					0	0	0	0
SMG5	23381	broad.mit.edu	37	1	156236039	156236039	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156236039C>T	uc001foc.3	-	12	1537	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	SMG5_uc009wrv.2_5'UTR	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	463	Poly-Arg.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GGGTGGGTGGCGGCGACGGCG	0.602		NA											14	114					0	0	0	0
SMG5	23381	broad.mit.edu	37	1	156246880	156246880	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156246880G>A	uc001foc.3	-	4	599	c.450C>T	c.(448-450)CTC>CTT	p.L150L		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	150					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ACTGACCTATGAGGGGGTCAG	0.542		NA											13	40					0	0	0	0
RHBG	57127	broad.mit.edu	37	1	156348150	156348150	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156348150C>T	uc010pho.1	+	4	671	c.633C>T	c.(631-633)CGC>CGT	p.R211R	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.R142R|RHBG_uc009wrz.2_Silent_p.R179R|RHBG_uc001for.2_Silent_p.R181R	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	211	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GCAAGCACCGCCAGGGCTCCG	0.622		NA											15	128					0	0	0	0
IQGAP3	128239	broad.mit.edu	37	1	156536225	156536225	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156536225A>G	uc001fpf.2	-	3	314	c.239T>C	c.(238-240)GTT>GCT	p.V80A	IQGAP3_uc009wsb.1_Missense_Mutation_p.V37A	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	80	CH.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCAAGGGAACCACGGAGGG	0.577		NA											3	25					0	0	0	0
BCAN	63827	broad.mit.edu	37	1	156622557	156622558	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156622557_156622558GG>AA	uc001fpp.2	+	8	2151_2152	c.1815_1816GG>AA	c.(1813-1818)AGGGAG>AGAAAG	p.E606K	BCAN_uc001fpo.2_Missense_Mutation_p.E606K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	606					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGTACCAGGGAGCTGGAGGC	0.653		NA											3	27					0	0	0	0
PEAR1	375033	broad.mit.edu	37	1	156880483	156880483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156880483G>A	uc001fqj.1	+	15	2015	c.1899G>A	c.(1897-1899)TCG>TCA	p.S633S	PEAR1_uc001fqk.1_Silent_p.S258S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	633	EGF-like 8.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACCCCTCGAACGGGACCT	0.617		NA											4	32					0	0	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909465	156909465	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:156909465G>A	uc001fqo.2	-	36	4891	c.3851C>T	c.(3850-3852)TCT>TTT	p.S1284F	ARHGEF11_uc010phu.1_Missense_Mutation_p.S700F|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S1324F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1284					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGTTCCAGAGAACAGAGACC	0.592		NA											23	37					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157559185	157559185	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:157559185C>T	uc001fqw.2	-	3	252	c.116G>A	c.(115-117)AGA>AAA	p.R39K	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	39	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGAGTCACTCTCTCTCCTTT	0.483		NA											8	35					0	0	0	0
OR10T2	128360	broad.mit.edu	37	1	158368957	158368957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158368957G>A	uc010pih.1	-	1	300	c.300C>T	c.(298-300)ACC>ACT	p.T100T		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGAACAGCTGGGTGGCACAGG	0.493		NA											8	47					0	0	0	0
OR10K1	391109	broad.mit.edu	37	1	158436049	158436049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158436049G>A	uc010pij.1	+	1	698	c.698G>A	c.(697-699)GGA>GAA	p.G233E		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCCTCCGTTGGAAGATACAAG	0.448		NA											18	87					0	0	0	0
OR6K6	128371	broad.mit.edu	37	1	158724701	158724701	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:158724701G>A	uc001fsw.1	+	1	96	c.96G>A	c.(94-96)GGG>GGA	p.G32G		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	32	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					CGGCCAGTGGGAATCAGACAA	0.433		NA											26	91					0	0	0	0
DARC	2532	broad.mit.edu	37	1	159176033	159176033	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:159176033C>T	uc001fto.2	+	2	1044	c.804C>T	c.(802-804)TCC>TCT	p.S268S	DARC_uc001ftp.3_Silent_p.S270S	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	268	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					TGGTGAGGTCCAAGCTGTTGC	0.572		NA											26	110					0	0	0	0
NHLH1	4807	broad.mit.edu	37	1	160340725	160340726	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160340725_160340726CC>TT	uc001fwa.2	+	2	646_647	c.204_205CC>TT	c.(202-207)CGCCGG>CGTTGG	p.R69W		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	69	Poly-Arg.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			Agcgccggcgccggcgccgcgc	0.634		NA											7	10					0	0	0	0
ITLN1	55600	broad.mit.edu	37	1	160849204	160849204	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:160849204C>T	uc001fxc.2	-	7	802	c.686G>A	c.(685-687)CGG>CAG	p.R229Q		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	229	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGTGAATTCCCCTGAAAACAA	0.493		NA											9	40					0	0	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018122	161018122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161018122C>T	uc001fxl.2	-	12	3035	c.2689G>A	c.(2689-2691)GAG>AAG	p.E897K	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.E686K|ARHGAP30_uc001fxm.2_Missense_Mutation_p.E743K|ARHGAP30_uc009wtx.2_Missense_Mutation_p.E570K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	897	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTCCATCTCCTCTGGCTGA	0.597		NA											7	30					0	0	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168017	161168017	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:161168017C>T	uc001fyt.3	-	1	829	c.401G>A	c.(400-402)GGA>GAA	p.G134E	ADAMTS4_uc001fyu.2_Missense_Mutation_p.G134E|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	134					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTCCGGATCTCCATTGATGGT	0.637		NA											14	49					0	0	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368801	162368801	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:162368801C>T	uc001gbz.1	-	3	397	c.275G>A	c.(274-276)GGG>GAG	p.G92E	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	SH2 domain containing 1B	92	SH2.									pancreas(1)	1	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AACCACCATCCCCTGATTTGG	0.398		NA											9	62					0	0	0	0
FAM78B	149297	broad.mit.edu	37	1	166039968	166039968	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:166039968C>T	uc001gdr.2	-	3	886	c.296G>A	c.(295-297)GGG>GAG	p.G99E	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	99										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTTTACTCTCCCTTCCCTCAA	0.507		NA											10	44					0	0	0	0
C1orf114	57821	broad.mit.edu	37	1	169390941	169390941	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169390941T>A	uc001gga.1	-	3	896	c.728A>T	c.(727-729)AAT>ATT	p.N243I	C1orf114_uc001gfz.1_Missense_Mutation_p.N243I|C1orf114_uc009wvq.1_Missense_Mutation_p.N243I|C1orf114_uc001ggb.2_Missense_Mutation_p.N243I|C1orf114_uc001ggc.1_Missense_Mutation_p.N243I	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	243											0	all_hematologic(923;0.208)					ATTTGCATTATTAATGGGAGG	0.398		NA											25	100					0	0	0	0
F5	2153	broad.mit.edu	37	1	169511036	169511036	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169511036G>A	uc001ggg.1	-	13	3437	c.3292C>T	c.(3292-3294)CCT>TCT	p.P1098S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1098	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTATGGTCAGGAAGTGAGGCT	0.458		NA											28	106					0	0	0	0
SELP	6403	broad.mit.edu	37	1	169578891	169578891	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:169578891C>T	uc001ggi.3	-	8	1249	c.1184G>A	c.(1183-1185)GGA>GAA	p.G395E	SELP_uc001ggh.2_Missense_Mutation_p.G230E|SELP_uc009wvr.2_Missense_Mutation_p.G395E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	395	Sushi 4.|Extracellular (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATCCATGCTTCCGTGGACAGG	0.488		NA											4	34					0	0	0	0
FMO3	2328	broad.mit.edu	37	1	171083464	171083464	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171083464T>C	uc001ghi.2	+	7	1256	c.1145T>C	c.(1144-1146)GTT>GCT	p.V382A	FMO3_uc001ghh.2_Missense_Mutation_p.V382A|FMO3_uc010pmb.1_Missense_Mutation_p.V362A|FMO3_uc010pmc.1_Missense_Mutation_p.V319A	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	382					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCCCACAGTTGACCTCCAG	0.453		NA											20	23					0	0	0	0
FMO2	2327	broad.mit.edu	37	1	171173050	171173050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:171173050C>T	uc001ghk.1	+	6	791	c.674C>T	c.(673-675)TCT>TTT	p.S225F	FMO2_uc010pmd.1_Missense_Mutation_p.S5F	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	225					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCCGTATCTCTGAAGATGGC	0.473		NA											8	30					0	0	0	0
TNR	7143	broad.mit.edu	37	1	175306677	175306677	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:175306677C>T	uc001gkp.1	-	17	3602	c.3521G>A	c.(3520-3522)GGG>GAG	p.G1174E	TNR_uc009wwu.1_Missense_Mutation_p.G1174E	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1174	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CCAGCCGCCCCCGTCGGTGGT	0.502		NA											19	34					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176863845	176863845	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176863845C>T	uc001glc.2	-	17	3005	c.2793G>A	c.(2791-2793)ATG>ATA	p.M931I	ASTN1_uc001glb.1_Missense_Mutation_p.M931I|ASTN1_uc001gld.1_Missense_Mutation_p.M931I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	939					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGTGGCACTCCATGCGGACTC	0.612		NA											13	76					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176927501	176927501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:176927501C>T	uc001glc.2	-	10	1928	c.1716G>A	c.(1714-1716)ATG>ATA	p.M572I	ASTN1_uc001glb.1_Missense_Mutation_p.M572I|ASTN1_uc001gld.1_Missense_Mutation_p.M572I|ASTN1_uc009wwx.1_Missense_Mutation_p.M572I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	580					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CAGCATCCTCCATCACAGTCA	0.537		NA											32	49					0	0	0	0
SEC16B	89866	broad.mit.edu	37	1	177909754	177909754	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:177909754C>T	uc001gli.1	-	17	2208	c.2118G>A	c.(2116-2118)AGG>AGA	p.R706R	SEC16B_uc001glk.1_Silent_p.R383R|SEC16B_uc009wwy.1_Silent_p.R261R|SEC16B_uc001glh.1_Silent_p.R365R|SEC16B_uc009wwz.1_Silent_p.R365R|SEC16B_uc001glj.1_Silent_p.R707R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	706					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CCTCCAGCTGCCTCCGAAGTT	0.557		NA											7	24					0	0	0	0
CACNA1E	777	broad.mit.edu	37	1	181741312	181741312	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:181741312G>A	uc001gow.2	+	37	5249	c.5084G>A	c.(5083-5085)GGC>GAC	p.G1695D	CACNA1E_uc009wxs.2_Missense_Mutation_p.G1583D|CACNA1E_uc001gox.1_Missense_Mutation_p.G921D|CACNA1E_uc009wxt.2_Missense_Mutation_p.G921D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1695	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						GAACGCTGCGGCACCGATCTG	0.557		NA											61	100					0	0	0	0
DHX9	1660	broad.mit.edu	37	1	182856371	182856371	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:182856371C>A	uc001gpr.2	+	28	3778	c.3615C>A	c.(3613-3615)TCC>TCA	p.S1205S	DHX9_uc001gps.2_Silent_p.S991S|DHX9_uc001gpt.2_Silent_p.S484S|DHX9_uc009wyd.2_Silent_p.S170S	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	1205	NTD.			NSFRAGYG -> TPSGRIC (in Ref. 1; AAB48855).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						GCGCCAACTCCTTTCGGGCAG	0.557		NA											22	97					3.88e-16	4.02e-16	1	0
HMCN1	83872	broad.mit.edu	37	1	186092317	186092317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:186092317G>A	uc001grq.1	+	81	12693	c.12464G>A	c.(12463-12465)GGA>GAA	p.G4155E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4155	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AATGTAGCAGGATCAAGCAGC	0.502		NA											7	26					0	0	0	0
GLRX2	51022	broad.mit.edu	37	1	193065760	193065760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:193065760G>A	uc001gsz.1	-	4	534	c.490C>T	c.(490-492)CAG>TAG	p.Q164*	GLRX2_uc001gta.1_Nonsense_Mutation_p.Q165*	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN	glutaredoxin 2 isoform 2	164					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity				0					Glutathione(DB00143)	AAACATCACTGAAATTCTTTC	0.323		NA											12	9					0	0	0	0
KCNT2	343450	broad.mit.edu	37	1	196438186	196438186	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196438186C>T	uc001gtd.1	-	6	457	c.397G>A	c.(397-399)GAA>AAA	p.E133K	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E133K|KCNT2_uc001gtf.1_Missense_Mutation_p.E133K|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.E133K|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	133	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						AAAATCTGTTCCCAGATGTTT	0.338		NA											4	13					0	0	0	0
CFHR1	3078	broad.mit.edu	37	1	196796106	196796106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:196796106G>A	uc001gtn.2	+	3	515	c.401G>A	c.(400-402)TGG>TAG	p.W134*	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	134	Sushi 2.				complement activation	extracellular space					0						GAACGGGGCTGGTCCACCCCT	0.388		NA											28	68					0	0	0	0
ZBTB41	360023	broad.mit.edu	37	1	197160945	197160945	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197160945G>C	uc001gtx.1	-	2	1274	c.1205C>G	c.(1204-1206)TCT>TGT	p.S402C	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	402	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGTTAGGTTAGACTTTGTTGA	0.378		NA											5	27					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197297819	197297819	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197297819C>T	uc001gtz.2	+	2	473	c.338C>T	c.(337-339)TCC>TTC	p.S113F	CRB1_uc010poz.1_Missense_Mutation_p.S44F|CRB1_uc001gty.1_Missense_Mutation_p.S113F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.S113F|CRB1_uc010ppb.1_Missense_Mutation_p.S113F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	113	Extracellular (Potential).|EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ACCATTGGTTCCTGTGGCAAG	0.498		NA											17	28					0	0	0	0
CRB1	23418	broad.mit.edu	37	1	197404489	197404490	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:197404489_197404490CC>GT	uc001gtz.2	+	9	3631_3632	c.3496_3497CC>GT	c.(3496-3498)CCC>GTC	p.P1166V	CRB1_uc010poz.1_Missense_Mutation_p.P1142V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P1054V|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.P647V|CRB1_uc001gub.1_Missense_Mutation_p.P815V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1166	Extracellular (Potential).|EGF-like 15.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TTGCTCCTGTCCCTTGGGATGG	0.475		NA											20	40					0	0	0	0
PTPRC	5788	broad.mit.edu	37	1	198671529	198671529	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:198671529G>A	uc001gur.1	+	6	627	c.447G>A	c.(445-447)GAG>GAA	p.E149E	PTPRC_uc001gus.1_Intron|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc010ppg.1_Silent_p.E85E|PTPRC_uc001guu.1_Silent_p.E192E|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	149	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TCCCAGGAGAGAGGAGTACAG	0.522		NA											24	114					0	0	0	0
IPO9	55705	broad.mit.edu	37	1	201821287	201821288	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:201821287_201821288CC>TT	uc001gwz.2	+	5	620_621	c.570_571CC>TT	c.(568-573)CTCCCA>CTTTCA	p.P191S		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	191					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CTGTCATTCTCCCAGAGATGTA	0.421		NA											10	43					0	0	0	0
LGR6	59352	broad.mit.edu	37	1	202245593	202245594	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:202245593_202245594CC>TT	uc001gxu.2	+	5	588_589	c.588_589CC>TT	c.(586-591)AACCGC>AATTGC	p.R197C	LGR6_uc001gxv.2_Missense_Mutation_p.R145C|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	197	LRR 5.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGCCCTCAACCGCATCAGCCA	0.639		NA											6	23					0	0	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024700	203024701	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203024700_203024701CC>TT	uc001gyz.2	+	3	1045_1046	c.452_453CC>TT	c.(451-453)TCC>TTT	p.S151F	PPFIA4_uc009xaj.2_Missense_Mutation_p.S782F|PPFIA4_uc010pqf.1_Missense_Mutation_p.S364F|PPFIA4_uc001gza.2_Missense_Mutation_p.S151F|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	151					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						ACGGCCCTGTCCCTGGCCAGCG	0.644		NA											3	40					0	0	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149598	203149598	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:203149598C>T	uc001gzi.2	-	8	1065	c.894G>A	c.(892-894)GAG>GAA	p.E298E	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	298					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1						ACTCCATTACCTCATAGTAGG	0.552		NA											10	37					0	0	0	0
REN	5972	broad.mit.edu	37	1	204124207	204124207	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204124207G>A	uc001haq.2	-	10	1202	c.1158C>T	c.(1156-1158)ATC>ATT	p.I386I	ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	386					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGAACTTTCGGATGAAGGTGG	0.607		NA											10	43					0	0	0	0
MDM4	4194	broad.mit.edu	37	1	204518442	204518442	+	Missense_Mutation	SNP	C	C	T	rs140091735	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:204518442C>T	uc001hba.2	+	11	1267	c.1105C>T	c.(1105-1107)CCT>TCT	p.P369S	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.P242S|MDM4_uc001hay.1_Missense_Mutation_p.P319S|MDM4_uc001hbb.2_Missense_Mutation_p.P242S|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	369					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CATTTCGGCTCCTGTCGTTAG	0.408		NA	A		GBM|bladder|retinoblastoma								55	89					0	0	0	0
CNTN2	6900	broad.mit.edu	37	1	205042324	205042324	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205042324G>A	uc001hbr.2	+	22	3242	c.2973G>A	c.(2971-2973)GGG>GGA	p.G991G	CNTN2_uc001hbs.2_Silent_p.G779G	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	991	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCCGGAGGGGATGGGATCC	0.577		NA											14	53					0	0	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306655	205306655	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205306655G>A	uc001hcf.1	-	6	1493	c.925C>T	c.(925-927)CTC>TTC	p.L309F	KLHDC8A_uc010prg.1_Missense_Mutation_p.L196F|KLHDC8A_uc001hcg.1_Missense_Mutation_p.L309F	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	309	Kelch 7.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGCAGGGAGGATCTCCCAT	0.572		NA											30	121					0	0	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904874	205904874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:205904874C>T	uc001hdq.2	-	2	189	c.75G>A	c.(73-75)GAG>GAA	p.E25E	SLC26A9_uc001hdp.2_Silent_p.E25E	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	25						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCCTTCTTCTCAAACTCAT	0.542		NA											28	115					0	0	0	0
CTSE	1510	broad.mit.edu	37	1	206317632	206317632	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206317632G>A	uc001hdu.2	+	1	174	c.56G>A	c.(55-57)GGA>GAA	p.G19E	CTSE_uc001hdv.2_Missense_Mutation_p.G19E|CTSE_uc010prs.1_5'UTR	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	19					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGGCCCAAGGATCCCTTCAC	0.582		NA											20	49					0	0	0	0
DYRK3	8444	broad.mit.edu	37	1	206821332	206821332	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:206821332G>A	uc001hej.2	+	3	957	c.789G>A	c.(787-789)CAG>CAA	p.Q263Q	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.Q243Q	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	263	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAAGAAACAGGATAAAACTG	0.443		NA											24	110					0	0	0	0
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:207640107G>A	uc001hfw.2	+	2	389	c.295G>A	c.(295-297)GGA>AGA	p.G99R	CR2_uc001hfv.2_Missense_Mutation_p.G99R|CR2_uc009xch.2_Missense_Mutation_p.G99R	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	99	Sushi 2.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G99*(1)		upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						AGTACCAGGAGGATACAAAAT	0.408		NA											27	35					0	0	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936417	209936418	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209936417_209936418GG>AA	uc001hho.2	+	6	846_847	c.556_557GG>AA	c.(556-558)GGA>AAA	p.G186K	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.G166K|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.G186K|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.G166K|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.G186K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	186	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TTCCAGTTACGGAGTTGCAGTT	0.406		NA											5	46					0	0	0	0
C1orf74	148304	broad.mit.edu	37	1	209956454	209956455	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:209956454_209956455GG>AA	uc001hhp.1	-	2	768_769	c.525_526CC>TT	c.(523-528)ATCCTC>ATTTTC	p.L176F		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	176										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TAGCCCAGGAGGATCCCAAATA	0.505		NA											44	58					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414910	213414910	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:213414910T>G	uc010ptr.1	+	11	2250	c.2091T>G	c.(2089-2091)GGT>GGG	p.G697G	RPS6KC1_uc001hkd.2_Silent_p.G685G|RPS6KC1_uc010pts.1_Silent_p.G485G|RPS6KC1_uc010ptt.1_Silent_p.G485G|RPS6KC1_uc010ptu.1_Silent_p.G516G|RPS6KC1_uc010ptv.1_Silent_p.G232G|RPS6KC1_uc001hke.2_Silent_p.G516G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	697					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTTACCTGGTGAATTGGAGT	0.388		NA											18	67					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214171352C>T	uc001hkh.2	+	2	1746	c.1474C>T	c.(1474-1476)CCA>TCA	p.P492S	PROX1_uc001hkg.1_Missense_Mutation_p.P492S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592		NA											16	70					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214625317	214625317	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:214625317T>G	uc001hkk.1	-	3	446	c.175A>C	c.(175-177)ACG>CCG	p.T59P	PTPN14_uc010pty.1_5'UTR	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	59	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AAGTAGTGCGTCTAGATAAAA	0.488		NA											16	49					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	215808040	215808040	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:215808040C>T	uc001hku.1	-	70	15445	c.15058G>A	c.(15058-15060)GTC>ATC	p.V5020I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5020	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGTTAGGACCAAGCCTGCA	0.443		NA								HNSCC(13;0.011)			10	73					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216380737	216380737	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216380737T>C	uc001hku.1	-	16	3581	c.3194A>G	c.(3193-3195)CAA>CGA	p.Q1065R	USH2A_uc001hkv.2_Missense_Mutation_p.Q1065R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1065	Extracellular (Potential).|Fibronectin type-III 1.				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)		AGAAGAACTTTGAACTTGTCC	0.413		NA								HNSCC(13;0.011)			14	67					0	0	0	0
ESRRG	2104	broad.mit.edu	37	1	216680458	216680458	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:216680458C>T	uc001hkw.1	-	7	1366	c.1200G>A	c.(1198-1200)CAG>CAA	p.Q400Q	ESRRG_uc001hky.1_Silent_p.Q377Q|ESRRG_uc009xdp.1_Silent_p.Q377Q|ESRRG_uc001hkz.1_Silent_p.Q338Q|ESRRG_uc010puc.1_Silent_p.Q377Q|ESRRG_uc001hla.1_Silent_p.Q377Q|ESRRG_uc001hlb.1_Silent_p.Q377Q|ESRRG_uc010pud.1_Silent_p.Q208Q|ESRRG_uc001hlc.1_Silent_p.Q377Q|ESRRG_uc001hld.1_Silent_p.Q377Q|ESRRG_uc001hkx.1_Silent_p.Q412Q|ESRRG_uc009xdo.1_Silent_p.Q377Q	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	400					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATAATCCTGCAGCGCTT	0.498		NA											14	51					0	0	0	0
MARK1	4139	broad.mit.edu	37	1	220791840	220791840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:220791840C>T	uc001hmn.3	+	8	1338	c.741C>T	c.(739-741)CTC>CTT	p.L247L	MARK1_uc009xdw.2_Silent_p.L247L|MARK1_uc010pun.1_Silent_p.L247L|MARK1_uc001hmm.3_Silent_p.L225L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	247	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428		NA											14	65					0	0	0	0
DUSP10	11221	broad.mit.edu	37	1	221879775	221879775	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:221879775T>C	uc001hmy.1	-	3	1027	c.845A>G	c.(844-846)AAC>AGC	p.N282S	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	282	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		GTCACAGAGGTTTTCATGGTT	0.572		NA											30	71					0	0	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717466	222717466	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:222717466G>A	uc001hnh.1	-	2	445	c.387C>T	c.(385-387)CTC>CTT	p.L129L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	129					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		AGAGGCCCGGGAGATTCCGGA	0.577		NA											33	153					0	0	0	0
ITPKB	3707	broad.mit.edu	37	1	226924822	226924822	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:226924822A>C	uc010pvo.1	-	2	678	c.338T>G	c.(337-339)GTG>GGG	p.V113G	ITPKB_uc001hqh.2_Missense_Mutation_p.V113G	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	113							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GGCTGCCACCACCTGCTGCCG	0.532		NA											19	29					0	0	0	0
WNT3A	89780	broad.mit.edu	37	1	228246955	228246955	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228246955C>T	uc001hrq.1	+	4	926	c.848C>T	c.(847-849)CCC>CTC	p.P283L	WNT3A_uc001hrp.1_Missense_Mutation_p.P283L	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	283					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				TTCTGCGAGCCCAACCCTGAG	0.701		NA											6	12					0	0	0	0
C1orf69	200205	broad.mit.edu	37	1	228362983	228362983	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:228362983C>T	uc001hsl.3	+	3	929	c.840C>T	c.(838-840)TTC>TTT	p.F280F	C1orf69_uc010pvw.1_Silent_p.F87F	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	280					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AGCGCCTCTTCCCTGTCCGGT	0.637		NA											10	56					0	0	0	0
C1orf198	84886	broad.mit.edu	37	1	230979405	230979405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:230979405G>A	uc001hub.2	-	3	666	c.622C>T	c.(622-624)CAG>TAG	p.Q208*	C1orf198_uc009xfh.1_Nonsense_Mutation_p.Q78*|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Nonsense_Mutation_p.Q170*	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	208											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAGCGACTGGAACTCGGCC	0.637		NA											18	75					0	0	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649796	232649797	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:232649796_232649797GT>TG	uc001hvg.2	-	1	1447_1448	c.1289_1290AC>CA	c.(1288-1290)AAC>ACA	p.N430T		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	430					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGAGGATGAGTTGGCTCGAGA	0.515		NA											30	139					0	0	0	0
TARBP1	6894	broad.mit.edu	37	1	234584226	234584226	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:234584226C>T	uc001hwd.2	-	11	1961	c.1961G>A	c.(1960-1962)AGC>AAC	p.S654N		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	654					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAACAATTACCTATACTGAGT	0.373		NA											8	39					0	0	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235643460	235643460	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:235643460G>A	uc001hxc.2	-	5	790	c.561C>T	c.(559-561)GCC>GCT	p.A187A	B3GALNT2_uc001hxd.1_Silent_p.A228A	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	187	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CAATGAAGAGGGCCTCCTACA	0.423		NA											12	46					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237540664	237540664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237540664C>T	uc001hyl.1	+	8	625	c.505C>T	c.(505-507)CGA>TGA	p.R169*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	169	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTAAGCAGCGATCAGAAGG	0.418		NA											4	35					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237754053	237754053	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237754053G>A	uc001hyl.1	+	31	4041	c.3921G>A	c.(3919-3921)CCG>CCA	p.P1307P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1307	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCATGCCGATCGAGTGCG	0.507		NA											42	143					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237777850	237777850	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237777850G>A	uc001hyl.1	+	37	5542	c.5422G>A	c.(5422-5424)GAC>AAC	p.D1808N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1808	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGCCCGGGACCCAGTTGG	0.478		NA											45	168					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237804216	237804216	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237804216G>A	uc001hyl.1	+	47	7255	c.7135G>A	c.(7135-7137)GAT>AAT	p.D2379N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2379	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAGGAAGATGACACTAT	0.428		NA											7	27					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237837398	237837398	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237837398G>A	uc001hyl.1	+	59	8713	c.8593G>A	c.(8593-8595)GGA>AGA	p.G2865R	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2865	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCTTAGGAGGAGGAAACCA	0.408		NA											16	83					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237947405	237947405	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:237947405C>G	uc001hyl.1	+	90	12513	c.12393C>G	c.(12391-12393)CCC>CCG	p.P4131P	RYR2_uc010pya.1_Silent_p.P546P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4131					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCCAGCCCTTTCTGGGCC	0.527		NA											11	50					0	0	0	0
CEP170	9859	broad.mit.edu	37	1	243289829	243289829	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:243289829T>C	uc001hzs.2	-	20	5085	c.4677A>G	c.(4675-4677)GAA>GAG	p.E1559E	CEP170_uc001hzt.2_Silent_p.E1435E|CEP170_uc001hzu.2_Silent_p.E1461E|CEP170_uc001hzr.2_Silent_p.E148E|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1559	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGCCTCAGATTCAGCATTCT	0.458		NA											6	18					0	0	0	0
ZNF695	57116	broad.mit.edu	37	1	247163359	247163359	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247163359C>T	uc009xgu.2	-	2	166	c.21G>A	c.(19-21)AGG>AGA	p.R7R	ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.R7R|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Silent_p.R7R	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	7	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGCCACATCCCTGAATGCCA	0.453		NA											9	55					0	0	0	0
OR2W5	441932	broad.mit.edu	37	1	247655080	247655080	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247655080C>T	uc001icz.1	+	1	651	c.651C>T	c.(649-651)CTC>CTT	p.L217L		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCCTCATCTCCTATGGCGTG	0.562		NA											25	81					0	0	0	0
OR2G2	81470	broad.mit.edu	37	1	247752021	247752021	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247752021G>A	uc010pyy.1	+	1	360	c.360G>A	c.(358-360)GTG>GTA	p.V120V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCGGCTGTGATGTCCTGTG	0.532		NA											33	149					0	0	0	0
OR14A16	284532	broad.mit.edu	37	1	247978769	247978769	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:247978769T>C	uc001idm.1	-	1	263	c.263A>G	c.(262-264)AAC>AGC	p.N88S		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGAAATGGAGTTGTTGTGTAT	0.448		NA											8	40					0	0	0	0
OR2L3	391192	broad.mit.edu	37	1	248224682	248224682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248224682G>A	uc001idx.1	+	1	699	c.699G>A	c.(697-699)AGG>AGA	p.R233R	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGAAGGGAGGAAGAAAGCCT	0.478		NA											74	105					0	0	0	0
OR2L13	284521	broad.mit.edu	37	1	248262753	248262753	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248262753C>T	uc001ids.2	+	3	413	c.76C>T	c.(76-78)CTC>TTC	p.L26F		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGAATATTTCTCTTGTGCCT	0.438		NA											56	80					0	0	0	0
OR2M5	127059	broad.mit.edu	37	1	248308568	248308568	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248308568T>G	uc010pze.1	+	1	119	c.119T>G	c.(118-120)ATG>AGG	p.M40R		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTGGCCTTCATGGGAAACTCT	0.522		NA											120	183					0	0	0	0
OR2T12	127064	broad.mit.edu	37	1	248458859	248458859	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248458859G>A	uc010pzj.1	-	1	22	c.22C>T	c.(22-24)CCA>TCA	p.P8S		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATAAAATCTGGGGTAGTATTT	0.438		NA											23	89					0	0	0	0
OR2G6	391211	broad.mit.edu	37	1	248685539	248685539	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:248685539G>A	uc001ien.1	+	1	592	c.592G>A	c.(592-594)GAA>AAA	p.E198K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACGAGGCAGAACTCTTTGT	0.473		NA											41	51					0	0	0	0
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	rs150542987		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5498571C>T	uc001iia.2	+	12	1543	c.1405C>T	c.(1405-1407)CGC>TGC	p.R469C	NET1_uc010qar.1_Missense_Mutation_p.R288C|NET1_uc001iib.2_Missense_Mutation_p.R415C|NET1_uc010qas.1_Missense_Mutation_p.R288C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						CTTTAGAATTCGCTTCCATGA	0.403		NA											15	75					0	0	0	0
FBXO18	84893	broad.mit.edu	37	10	5966446	5966446	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:5966446C>T	uc001iis.2	+	17	2666	c.2571C>T	c.(2569-2571)TGC>TGT	p.C857C	FBXO18_uc001iir.2_Silent_p.C783C|FBXO18_uc009xig.2_Silent_p.C783C|FBXO18_uc001iit.2_Silent_p.C908C	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	857					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TAGAAAAATGCCATATAGAAG	0.428		NA											9	24					0	0	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540382	6540382	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:6540382C>A	uc001ijj.1	-	5	593	c.518G>T	c.(517-519)TGC>TTC	p.C173F	PRKCQ_uc009xim.1_Missense_Mutation_p.C173F|PRKCQ_uc001iji.1_Missense_Mutation_p.C206F|PRKCQ_uc009xin.1_Missense_Mutation_p.C137F|PRKCQ_uc010qax.1_Missense_Mutation_p.C48F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	173	Phorbol-ester/DAG-type 1.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						GCAGACAGAGCAAAATGTGGG	0.527		NA											23	83					3.29e-13	3.39e-13	1	0
SFMBT2	57713	broad.mit.edu	37	10	7214518	7214518	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:7214518G>A	uc009xio.1	-	18	2181	c.2090C>T	c.(2089-2091)TCC>TTC	p.S697F	SFMBT2_uc001ijn.1_Missense_Mutation_p.S697F|SFMBT2_uc010qay.1_Missense_Mutation_p.S532F	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	697					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CACGAAAATGGATTTCCGTCG	0.602		NA											10	49					0	0	0	0
NUDT5	11164	broad.mit.edu	37	10	12219884	12219884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:12219884G>A	uc001ilj.2	-	5	613	c.197C>T	c.(196-198)CCC>CTC	p.P66L	NUDT5_uc001ilk.2_Missense_Mutation_p.P66L	NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	nudix-type motif 5	66	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			ovary(1)|pancreas(1)	2		Renal(717;0.228)				CTGCAGCACGGGGATGACCGC	0.502		NA											7	38					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	16948290	16948290	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:16948290C>T	uc001ioo.2	-	50	7876	c.7824G>A	c.(7822-7824)CAG>CAA	p.Q2608Q	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_5'UTR	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2608	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGAATTTCCCTGATTTGGAT	0.413		NA											8	87					0	0	0	0
GPR158	57512	broad.mit.edu	37	10	25878064	25878064	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:25878064C>T	uc001isj.2	+	8	1942	c.1882C>T	c.(1882-1884)CAT>TAT	p.H628Y		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	628	Helical; Name=6; (Potential).			ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TGCTATATTCCATACAATTAG	0.378		NA											11	40					0	0	0	0
GAD2	2572	broad.mit.edu	37	10	26518694	26518694	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:26518694C>T	uc001isp.2	+	7	1331	c.828C>T	c.(826-828)TTC>TTT	p.F276F	GAD2_uc001isq.2_Silent_p.F276F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	276					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TCATTGCCTTCACGTCTGAAC	0.448		NA											18	28					0	0	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324456	27324456	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27324456T>A	uc001ith.2	-	24	3092	c.2920A>T	c.(2920-2922)AAT>TAT	p.N974Y	ANKRD26_uc001itg.2_Missense_Mutation_p.N661Y|ANKRD26_uc009xku.1_Missense_Mutation_p.N975Y	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	974	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						AGCCGTCCATTATACTGGGAT	0.353		NA											34	62					0	0	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687894	27687894	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:27687894C>T	uc001itu.2	-	4	1751	c.1633G>A	c.(1633-1635)GAA>AAA	p.E545K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	545					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CAGACTACTTCTCTTTTACCA	0.393		NA											17	62					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315322	30315322	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:30315322C>T	uc001iux.2	-	2	3814	c.3755G>A	c.(3754-3756)AGG>AAG	p.R1252K	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1114K|KIAA1462_uc009xle.1_Missense_Mutation_p.R1252K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1252										ovary(4)	4						GTCTGCTCTCCTAGGCGGGGA	0.522		NA											14	53					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33208967	33208967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33208967C>T	uc001iws.3	-	11	1451	c.1315G>A	c.(1315-1317)GAT>AAT	p.D439N	ITGB1_uc001iwp.3_Missense_Mutation_p.D439N|ITGB1_uc001iwq.3_Missense_Mutation_p.D439N|ITGB1_uc001iwr.3_Missense_Mutation_p.D439N|ITGB1_uc001iwt.3_Missense_Mutation_p.D439N|ITGB1_uc001iwu.1_Missense_Mutation_p.D439N	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	439	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGTCAGAATCCTTTTTTGGA	0.348		NA											62	112					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33217084	33217084	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:33217084A>C	uc001iws.3	-	5	621	c.485T>G	c.(484-486)GTA>GGA	p.V162G	ITGB1_uc001iwp.3_Missense_Mutation_p.V162G|ITGB1_uc001iwq.3_Missense_Mutation_p.V162G|ITGB1_uc001iwr.3_Missense_Mutation_p.V162G|ITGB1_uc001iwt.3_Missense_Mutation_p.V162G|ITGB1_uc001iwu.1_Missense_Mutation_p.V162G	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	162	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AAGACTTTTTACATTCTCCAA	0.338		NA											26	79					0	0	0	0
ZNF239	8187	broad.mit.edu	37	10	44052301	44052301	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:44052301C>T	uc001jaw.3	-	2	1880	c.1227G>A	c.(1225-1227)GGG>GGA	p.G409G	ZNF239_uc001jax.3_Silent_p.G409G|ZNF239_uc009xmj.2_Silent_p.G409G|ZNF239_uc009xmk.2_Silent_p.G409G	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	409	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						TAAATCCCTTCCCACACTTGC	0.522		NA											6	39					0	0	0	0
RBP3	5949	broad.mit.edu	37	10	48390169	48390169	+	Missense_Mutation	SNP	C	C	T	rs139362090		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48390169C>T	uc001jez.2	-	1	823	c.709G>A	c.(709-711)GGC>AGC	p.G237S		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	237	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TCGGCCACGCCCCTGGTCTGG	0.657		NA											10	25					0	0	0	0
GDF10	2662	broad.mit.edu	37	10	48428967	48428967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:48428967C>T	uc001jfb.2	-	2	1375	c.919G>A	c.(919-921)GAT>AAT	p.D307N	GDF10_uc009xnp.2_Missense_Mutation_p.D306N|GDF10_uc009xnq.1_Missense_Mutation_p.D307N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	307					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGCCTCTCATCCAGCCCCGGC	0.746		NA											3	13					0	0	0	0
ARID5B	84159	broad.mit.edu	37	10	63851606	63851606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:63851606C>T	uc001jlt.1	+	10	2410	c.2384C>T	c.(2383-2385)CCC>CTC	p.P795L		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	795					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CACCTTAACCCCCTTGCTGAC	0.507		NA											75	60					0	0	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974629	64974629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:64974629G>A	uc001jmn.2	-	8	1598	c.1298C>T	c.(1297-1299)CCC>CTC	p.P433L	JMJD1C_uc001jml.2_Missense_Mutation_p.P214L|JMJD1C_uc001jmm.2_Missense_Mutation_p.P145L|JMJD1C_uc010qiq.1_Missense_Mutation_p.P251L|JMJD1C_uc009xpi.2_Missense_Mutation_p.P251L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.P145L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	433					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGATCCCAGGGAGGCTGGCT	0.363		NA											41	59					0	0	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862933	67862933	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:67862933G>A	uc009xpn.1	-	14	2082	c.1959C>T	c.(1957-1959)ACC>ACT	p.T653T	CTNNA3_uc001jmw.2_Silent_p.T653T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	653					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTTTCCCTTCGGTCTGAATGC	0.473		NA											15	51					0	0	0	0
DNA2	1763	broad.mit.edu	37	10	70190226	70190226	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70190226G>A	uc001jof.2	-	14	2433	c.2433C>T	c.(2431-2433)TCC>TCT	p.S811S	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	725					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						GAAGAGCTAAGGATTTAATGG	0.358		NA											7	16					0	0	0	0
HKDC1	80201	broad.mit.edu	37	10	70998852	70998852	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:70998852G>A	uc001jpf.3	+	5	683	c.550G>A	c.(550-552)GAT>AAT	p.D184N	HKDC1_uc010qje.1_Missense_Mutation_p.D47N	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	184					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TCAGGACACGGATGTGGTGAG	0.512		NA											18	15					0	0	0	0
CDH23	64072	broad.mit.edu	37	10	73570315	73570315	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:73570315G>A	uc001jrx.3	+	60	9443	c.9066G>A	c.(9064-9066)CTG>CTA	p.L3022L	CDH23_uc001jsg.3_Silent_p.L782L|CDH23_uc001jsh.3_Silent_p.L782L|CDH23_uc001jsi.3_Silent_p.L782L|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	3022	Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACCGCATCCTGGACGTGGACC	0.483		NA											20	19					0	0	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850172	78850172	+	Silent	SNP	G	G	A	rs45617636	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:78850172G>A	uc001jxn.2	-	10	1497	c.1320C>T	c.(1318-1320)ATC>ATT	p.I440I	KCNMA1_uc001jxj.2_Silent_p.I440I|KCNMA1_uc001jxk.1_Silent_p.I55I|KCNMA1_uc009xrt.1_Silent_p.I260I|KCNMA1_uc001jxl.1_Silent_p.I94I|KCNMA1_uc001jxo.2_Silent_p.I440I|KCNMA1_uc001jxm.2_Silent_p.I440I|KCNMA1_uc001jxq.2_Silent_p.I440I	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	440	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAAGAAAAACGATCTCCACAT	0.517		NA											41	27					0	0	0	0
DLG5	9231	broad.mit.edu	37	10	79581719	79581720	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:79581719_79581720GG>AA	uc001jzk.2	-	15	2592_2593	c.2522_2523CC>TT	c.(2521-2523)TCC>TTT	p.S841F	DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S445F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	841					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGTCTGCGTGGAGTTATTGTG	0.52		NA											63	54					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	84498353	84498353	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84498353G>A	uc001kco.2	+	3	1001	c.974G>A	c.(973-975)GGA>GAA	p.G325E	NRG3_uc010qlz.1_Missense_Mutation_p.G325E|NRG3_uc001kcp.2_Missense_Mutation_p.G104E|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	325	EGF-like.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCTACCAAGGAGTCCGTTGT	0.393		NA											51	31					0	0	0	0
NRG3	10718	broad.mit.edu	37	10	84745339	84745339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:84745339G>A	uc001kco.2	+	9	2096	c.2069G>A	c.(2068-2070)AGA>AAA	p.R690K	NRG3_uc010qlz.1_Missense_Mutation_p.R689K|NRG3_uc001kcp.2_Missense_Mutation_p.R493K|NRG3_uc001kcq.2_Missense_Mutation_p.R340K|NRG3_uc001kcr.2_Missense_Mutation_p.R364K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	714	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAATACAAAGAGACTCTGCA	0.418		NA											11	49					0	0	0	0
WAPAL	23063	broad.mit.edu	37	10	88260013	88260013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:88260013C>T	uc001kdo.2	-	3	1429	c.987G>A	c.(985-987)TCG>TCA	p.S329S	WAPAL_uc001kdn.2_Silent_p.S372S|WAPAL_uc009xsw.2_Silent_p.S329S	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	329	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						CATCTTTACTCGATTCACTGT	0.458		NA											16	80					0	0	0	0
TLL2	7093	broad.mit.edu	37	10	98157001	98157001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:98157001C>T	uc001kml.1	-	11	1552	c.1326G>A	c.(1324-1326)TGG>TGA	p.W442*	TLL2_uc009xvf.1_Nonsense_Mutation_p.W420*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	442	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGAACTCCACCCAGAGCCGGC	0.582		NA											19	18					0	0	0	0
C10orf28	27291	broad.mit.edu	37	10	99968599	99968599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968599C>T	uc001kow.3	+	4	1023	c.728C>T	c.(727-729)TCT>TTT	p.S243F	C10orf28_uc001kox.3_Missense_Mutation_p.S243F|C10orf28_uc001koy.3_Missense_Mutation_p.S243F|C10orf28_uc009xvx.2_Missense_Mutation_p.S243F|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	243							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AGCTCTGATTCTGAAATTGTA	0.393		NA											36	12					0	0	0	0
C10orf28	27291	broad.mit.edu	37	10	99968919	99968919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:99968919C>T	uc001kow.3	+	4	1343	c.1048C>T	c.(1048-1050)CCT>TCT	p.P350S	C10orf28_uc001kox.3_Missense_Mutation_p.P350S|C10orf28_uc001koy.3_Missense_Mutation_p.P350S|C10orf28_uc009xvx.2_Missense_Mutation_p.P350S|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	350							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GCACGAACCTCCTGATACAGC	0.398		NA											19	81					0	0	0	0
LOXL4	84171	broad.mit.edu	37	10	100016640	100016640	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100016640C>T	uc001kpa.1	-	9	1476	c.1325G>A	c.(1324-1326)GGG>GAG	p.G442E		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	442	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTGGGACCCCGTTCACCTC	0.612		NA											13	43					0	0	0	0
PYROXD2	84795	broad.mit.edu	37	10	100174846	100174847	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100174846_100174847GG>AA	uc001kpc.2	-	1	132_133	c.46_47CC>TT	c.(46-48)CCC>TTC	p.P16F	PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Missense_Mutation_p.P16F	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	16							oxidoreductase activity			central_nervous_system(1)	1						CGCCGGGAAGGGAGAGGCGGCC	0.594		NA											23	64					0	0	0	0
HPS1	3257	broad.mit.edu	37	10	100179847	100179847	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:100179847C>T	uc010qpf.1	-	18	2058	c.1812G>A	c.(1810-1812)GAG>GAA	p.E604E	HPS1_uc001kpi.1_Silent_p.E605E|HPS1_uc001kpj.1_Silent_p.E512E|HPS1_uc001kpk.1_Silent_p.E429E	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	604					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGAAATCCCCCTCCTGGAACA	0.582		NA							Hermansky-Pudlak_syndrome				58	102					0	0	0	0
GOT1	2805	broad.mit.edu	37	10	101163324	101163324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101163324C>T	uc001kpr.2	-	7	1069	c.861G>A	c.(859-861)CAG>CAA	p.Q287Q	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	287					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTTCTCCATCTGGGAAAGGA	0.537		NA											47	77					0	0	0	0
ABCC2	1244	broad.mit.edu	37	10	101556903	101556903	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101556903G>A	uc001kqf.2	+	7	821	c.682G>A	c.(682-684)GAA>AAA	p.E228K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	228	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGATGTCTGGGAAGTTGATGA	0.527		NA											43	30					0	0	0	0
CPN1	1369	broad.mit.edu	37	10	101816815	101816816	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101816815_101816816CC>TT	uc001kql.2	-	6	1225_1226	c.965_966GG>AA	c.(964-966)CGG>CAA	p.R322Q		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCAGCCACTCCCGCTGTAACTC	0.455		NA											196	96					0	0	0	0
CPN1	1369	broad.mit.edu	37	10	101824951	101824951	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101824951G>A	uc001kql.2	-	4	1013	c.753C>T	c.(751-753)TTC>TTT	p.F251F		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	251	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATACCTTCTGGAAGAGCTTGT	0.612		NA											45	34					0	0	0	0
CHUK	1147	broad.mit.edu	37	10	101982730	101982730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:101982730G>A	uc001kqp.2	-	3	263	c.208C>T	c.(208-210)CAT>TAT	p.H70Y		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	70	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		ACATTGGCATGGTTCAACCTA	0.338		NA											35	18					0	0	0	0
SEC31B	25956	broad.mit.edu	37	10	102249490	102249490	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:102249490T>A	uc001krc.1	-	22	3096	c.2994A>T	c.(2992-2994)CCA>CCT	p.P998P	SEC31B_uc010qpo.1_Silent_p.P997P|SEC31B_uc001krd.1_Silent_p.P535P|SEC31B_uc001krf.1_Silent_p.P430P|SEC31B_uc001kre.1_Silent_p.P430P	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	998	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCCTGGGGGCTGGGGCTTCTT	0.468		NA											14	76					0	0	0	0
NOLC1	9221	broad.mit.edu	37	10	103920272	103920272	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:103920272C>T	uc001kuo.2	+	10	1398	c.1163C>T	c.(1162-1164)TCA>TTA	p.S388L	NOLC1_uc001kup.2_Missense_Mutation_p.S398L|NOLC1_uc001kuq.2_Missense_Mutation_p.S389L|NOLC1_uc009xxb.1_Missense_Mutation_p.S107L|NOLC1_uc001kur.2_Missense_Mutation_p.S107L	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	388	Nuclear localization signal (Potential).|11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAGAATTCTTCAAATAAGCCA	0.532		NA											25	74					0	0	0	0
PSD	5662	broad.mit.edu	37	10	104173829	104173829	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:104173829C>T	uc001kvg.1	-	5	1777	c.1250G>A	c.(1249-1251)GGC>GAC	p.G417D	PSD_uc001kvh.1_Missense_Mutation_p.G38D|PSD_uc009xxd.1_Missense_Mutation_p.G417D	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	417					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATAGGAGGTGCCTTTGGCCCG	0.622		NA											16	45					0	0	0	0
TAF5	6877	broad.mit.edu	37	10	105139526	105139526	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105139526C>G	uc001kwv.2	+	4	1298	c.1275C>G	c.(1273-1275)AAC>AAG	p.N425K	TAF5_uc010qqq.1_Missense_Mutation_p.N425K	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	425					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CACCTCAGAACAGGTGAGGAA	0.353		NA											11	32					0	0	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362544	105362544	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105362544G>A	uc001kxj.1	-	14	2487	c.2347C>T	c.(2347-2349)CCC>TCC	p.P783S	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.P618S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.P660S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.P618S|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.P726S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	811					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTCACTGGGAGCCTCGGAG	0.647		NA											33	115					0	0	0	0
COL17A1	1308	broad.mit.edu	37	10	105807536	105807537	+	Missense_Mutation	DNP	GG	GG	AA	rs138894227	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:105807536_105807537GG>AA	uc001kxr.2	-	31	2464_2465	c.2295_2296CC>TT	c.(2293-2298)ATCCGT>ATTTGT	p.R766C		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	766	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCACGGATTCCAGGCA	0.45		NA											26	24					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	106970961	106970961	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:106970961C>T	uc001kyi.1	+	17	2555	c.2328C>T	c.(2326-2328)TCC>TCT	p.S776S	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	776	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCCAGCATCCCCATCAAAGG	0.453		NA											9	35					0	0	0	0
KIAA1598	57698	broad.mit.edu	37	10	118661444	118661444	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:118661444G>A	uc009xyw.2	-	16	2003	c.1505C>T	c.(1504-1506)TCA>TTA	p.S502L	KIAA1598_uc001lcz.3_Intron|KIAA1598_uc010qso.1_Missense_Mutation_p.S442L|KIAA1598_uc010qsp.1_Missense_Mutation_p.S502L|KIAA1598_uc010qsq.1_Missense_Mutation_p.S442L|KIAA1598_uc001lcy.3_Missense_Mutation_p.S472L	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	502					axon guidance	axon					0				all cancers(201;0.00494)		TTTGGACTCTGAGGTGGCTAA	0.408		NA											4	25					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122660595	122660596	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122660595_122660596TG>GT	uc010qtf.1	+	21	2910_2911	c.2672_2673TG>GT	c.(2671-2673)TTG>TGT	p.L891C	WDR11_uc010qte.1_Missense_Mutation_p.L493C|WDR11_uc001lfd.1_Missense_Mutation_p.L409C|WDR11_uc009xzn.2_Missense_Mutation_p.L182C	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	891						integral to membrane					0						CAAGAACAGTTGAATTCATTGT	0.282		NA											20	55					0	0	0	0
WDR11	55717	broad.mit.edu	37	10	122662636	122662637	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:122662636_122662637GG>AA	uc010qtf.1	+	23	3061_3062	c.2823_2824GG>AA	c.(2821-2826)CAGGAA>CAAAAA	p.E942K	WDR11_uc010qte.1_Missense_Mutation_p.E544K|WDR11_uc001lfd.1_Missense_Mutation_p.E460K|WDR11_uc009xzn.2_Missense_Mutation_p.E233K	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	942						integral to membrane					0						GCTTATCCCAGGAAAAGTCAGC	0.5		NA											6	37					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124345745	124345745	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:124345745C>T	uc001lgk.1	+	16	1735	c.1629C>T	c.(1627-1629)GCC>GCT	p.A543A	DMBT1_uc001lgl.1_Silent_p.A533A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.A543A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	543	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATGTTGGCCCCAGGAAATG	0.602		NA											62	180					0	0	0	0
FAM175B	23172	broad.mit.edu	37	10	126523370	126523370	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:126523370C>T	uc001lib.3	+	9	1123	c.1078C>T	c.(1078-1080)CCT>TCT	p.P360S		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	360						BRISC complex	polyubiquitin binding				0						TGACCTTCCTCCTCCCCAAAG	0.488		NA											16	34					0	0	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016234	134016234	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016234G>T	uc009ybb.2	+	12	1520	c.1366G>T	c.(1366-1368)GAC>TAC	p.D456Y		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	456					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCGCTGGAGGACGGGAAGAT	0.617		NA											40	28					6.46e-13	6.66e-13	1	0
DPYSL4	10570	broad.mit.edu	37	10	134016249	134016249	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134016249G>T	uc009ybb.2	+	12	1535	c.1381G>T	c.(1381-1383)GTC>TTC	p.V461F		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	461					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GAAGATGTTTGTCACCCCGGG	0.622		NA											26	47					7.38e-10	7.58e-10	1	0
GPR123	84435	broad.mit.edu	37	10	134942170	134942170	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:134942170G>A	uc001llx.3	+	7	1274	c.838G>A	c.(838-840)GGC>AGC	p.G280S	GPR123_uc001llw.2_Missense_Mutation_p.G999S	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	280	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGTGTCACAGGGCCACTTCCT	0.652		NA											18	8					0	0	0	0
SYCE1	93426	broad.mit.edu	37	10	135369503	135369503	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr10:135369503C>T	uc001lno.2	-	9	682	c.577G>A	c.(577-579)GAG>AAG	p.E193K	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.E65K|SYCE1_uc009ybn.2_Missense_Mutation_p.E193K|SYCE1_uc001lnn.2_Missense_Mutation_p.E157K	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	193	Potential.				cell division	central element				ovary(1)	1		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCAGCTGCTCCTTGCTGCTG	0.582		NA											24	53					0	0	0	0
ANO9	338440	broad.mit.edu	37	11	432045	432045	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:432045G>A	uc001lpi.2	-	5	445	c.360C>T	c.(358-360)ATC>ATT	p.I120I	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	120	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TCACGATTCGGATTCTGAGAC	0.637		NA											8	45					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	607230	607230	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:607230C>T	uc001lqe.2	+	14	1905	c.1774C>T	c.(1774-1776)CCC>TCC	p.P592S	PHRF1_uc010qwc.1_Missense_Mutation_p.P591S|PHRF1_uc010qwd.1_Missense_Mutation_p.P590S|PHRF1_uc010qwe.1_Missense_Mutation_p.P588S|PHRF1_uc009ybz.1_Missense_Mutation_p.P382S|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	592							RNA polymerase binding|zinc ion binding				0						GTCCCGCACCCCCGCCCGCAC	0.701		NA											19	27					0	0	0	0
MUC6	4588	broad.mit.edu	37	11	1018644	1018644	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1018644G>T	uc001lsw.2	-	31	4208	c.4157C>A	c.(4156-4158)ACA>AAA	p.T1386K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1386	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTCTCTGTGGCTGTGGG	0.627		NA											38	175					9.63e-15	9.96e-15	1	0
MUC5B	727897	broad.mit.edu	37	11	1156179	1156180	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1156179_1156180CC>TT	uc009ycr.1	+	6	630_631	c.504_505CC>TT	c.(502-507)GTCCTC>GTTTTC	p.L169F		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	165	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTCTGGGGTCCTCATTCAGCA	0.653		NA											7	44					0	0	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643015	1643015	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643015G>A	uc009ycy.1	-	3	534	c.447C>T	c.(445-447)TCC>TCT	p.S149S		NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	163	9 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.682		NA											7	170					0	0	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643054	1643054	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1643054G>A	uc009ycy.1	-	3	495	c.408C>T	c.(406-408)GGC>GGT	p.G136G		NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	150	9 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGACACAGCCCCCCTTGG	0.672		NA											17	116					0	0	0	0
SYT8	90019	broad.mit.edu	37	11	1856328	1856328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:1856328G>A	uc001lue.1	+	2	163	c.35G>A	c.(34-36)GGT>GAT	p.G12D	SYT8_uc010qxb.1_5'UTR|SYT8_uc001lud.2_Missense_Mutation_p.G12D|SYT8_uc001luf.1_5'UTR|SYT8_uc009ydb.1_5'UTR	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	12	Extracellular (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCAGCAGGGTAGAAAGATG	0.667		NA											7	32					0	0	0	0
TRPM5	29850	broad.mit.edu	37	11	2428000	2428000	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:2428000C>T	uc001lwm.3	-	21	3151	c.3142G>A	c.(3142-3144)GAC>AAC	p.D1048N	TRPM5_uc010qxl.1_Missense_Mutation_p.D1048N|TRPM5_uc009ydn.2_Missense_Mutation_p.D1050N	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	1048	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)		ACCTTCTGGTCCAGGGGGTCT	0.627		NA											13	57					0	0	0	0
OSBPL5	114879	broad.mit.edu	37	11	3109443	3109443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3109443G>A	uc001lxk.2	-	22	2790	c.2632C>T	c.(2632-2634)CTC>TTC	p.L878F	OSBPL5_uc010qxq.1_Missense_Mutation_p.L789F|OSBPL5_uc009ydw.2_Missense_Mutation_p.L810F|OSBPL5_uc001lxl.2_Missense_Mutation_p.L810F|OSBPL5_uc001lxj.2_Missense_Mutation_p.L332F	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	878					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCCTATTTGAGGATGTGGTTA	0.642		NA											7	19					0	0	0	0
ART1	417	broad.mit.edu	37	11	3681448	3681448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3681448C>T	uc001lye.1	+	3	800	c.699C>T	c.(697-699)TCC>TCT	p.S233S	ART1_uc009yeb.1_Silent_p.S233S	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	233		NAD (By similarity).			protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGGGCTACTCCTTCTTCCCTG	0.597		NA											9	38					0	0	0	0
PGAP2	27315	broad.mit.edu	37	11	3838688	3838688	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:3838688C>T	uc001lys.2	+	3	397	c.271C>T	c.(271-273)CCT>TCT	p.P91S	PGAP2_uc001lyl.2_Intron|PGAP2_uc010qxw.1_Missense_Mutation_p.P148S|PGAP2_uc010qxx.1_Intron|PGAP2_uc001lyp.3_Intron|PGAP2_uc010qxy.1_Intron|PGAP2_uc010qxz.1_Intron|PGAP2_uc001lyn.3_Intron|PGAP2_uc010qya.1_Intron|PGAP2_uc001lyr.2_Intron|PGAP2_uc010qyb.1_Intron|PGAP2_uc001lyt.2_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	91	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						CATCACTTTTCCTGTGTTCGG	0.602		NA											14	57					0	0	0	0
STIM1	6786	broad.mit.edu	37	11	4095781	4095781	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4095781C>T	uc001lyv.2	+	7	1409	c.841C>T	c.(841-843)CAT>TAT	p.H281Y	STIM1_uc009yef.2_Missense_Mutation_p.H281Y|STIM1_uc009yeg.2_Missense_Mutation_p.H108Y	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	281	Cytoplasmic (Potential).|Glu-rich.|Potential.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGAGAAGGTCCATCTGGAAAA	0.637		NA											10	14					0	0	0	0
C11orf40	143501	broad.mit.edu	37	11	4594552	4594552	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:4594552G>A	uc010qyg.1	-	2	292	c.292C>T	c.(292-294)CCT>TCT	p.P98S		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	hypothetical protein LOC143501	98										ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTAAAGCAAGGTCTTTTGTCA	0.488		NA											32	113					0	0	0	0
MMP26	56547	broad.mit.edu	37	11	5012647	5012647	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5012647C>T	uc001lzv.2	+	4	534	c.516C>T	c.(514-516)GGC>GGT	p.G172G		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	172					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTATCTTAGGCCATGCCTTTT	0.478		NA											58	184					0	0	0	0
OR56A5	390084	broad.mit.edu	37	11	5989386	5989386	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5989386C>T	uc010qzu.1	-	1	339	c.339G>A	c.(337-339)ATG>ATA	p.M113I		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	113	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						TGCAGGACTCCATAGTCAGAA	0.493		NA											5	32					0	0	0	0
OR56A5	390084	broad.mit.edu	37	11	5989583	5989583	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:5989583G>A	uc010qzu.1	-	1	142	c.142C>T	c.(142-144)CTT>TTT	p.L48F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	48	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						GTGATCAGAAGGGTGGCATTG	0.577		NA											6	35					0	0	0	0
OR52L1	338751	broad.mit.edu	37	11	6007757	6007757	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6007757G>A	uc001mcd.2	-	1	459	c.404C>T	c.(403-405)GCC>GTC	p.A135V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	135	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCCATGGCCACAAGTAC	0.537		NA											5	19					0	0	0	0
OR56A1	120796	broad.mit.edu	37	11	6048186	6048186	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6048186G>A	uc010qzw.1	-	1	749	c.749C>T	c.(748-750)TCC>TTC	p.S250F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGAAGTGGGAGCCACATGT	0.498		NA											10	56					0	0	0	0
TRIM3	10612	broad.mit.edu	37	11	6472240	6472240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6472240G>A	uc001mdh.2	-	10	2139	c.1752C>T	c.(1750-1752)GAC>GAT	p.D584D	TRIM3_uc001mdi.2_Silent_p.D584D|TRIM3_uc010raj.1_Silent_p.D465D|TRIM3_uc009yfd.2_Silent_p.D584D|TRIM3_uc010rak.1_Silent_p.D584D	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	584	NHL 3.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCATTCCGGTCTACGGCCA	0.547		NA											15	44					0	0	0	0
TRIM3	10612	broad.mit.edu	37	11	6477752	6477752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6477752C>T	uc001mdh.2	-	7	1591	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	TRIM3_uc001mdi.2_Missense_Mutation_p.V402M|TRIM3_uc010raj.1_Missense_Mutation_p.V283M|TRIM3_uc009yfd.2_Missense_Mutation_p.V402M|TRIM3_uc010rak.1_Missense_Mutation_p.V402M|TRIM3_uc001mdj.2_Missense_Mutation_p.V283M	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	402	Filamin.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAGCAGCACCGAGAGGAGC	0.677		NA											5	14					0	0	0	0
DNHD1	144132	broad.mit.edu	37	11	6591316	6591316	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:6591316T>G	uc001mdw.3	+	40	13505	c.12941T>G	c.(12940-12942)ATG>AGG	p.M4314R	DNHD1_uc001mea.3_Missense_Mutation_p.M583R|DNHD1_uc001meb.2_Missense_Mutation_p.M582R|DNHD1_uc001mec.2_Missense_Mutation_p.M582R|DNHD1_uc010rao.1_Missense_Mutation_p.M572R|DNHD1_uc009yfg.2_5'UTR	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4314					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGCTGCCATGCAAGAGCTG	0.567		NA											17	58					0	0	0	0
OVCH2	341277	broad.mit.edu	37	11	7718105	7718106	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:7718105_7718106CC>TT	uc010rbf.1	-	10	1047_1048	c.1047_1048GG>AA	c.(1045-1050)GAGGAA>GAAAAA	p.E350K		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACATGCATTTCCTCTGGTACCA	0.475		NA											11	43					0	0	0	0
TUB	7275	broad.mit.edu	37	11	8120376	8120376	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8120376C>T	uc001mga.2	+	9	1219	c.1070C>T	c.(1069-1071)ACT>ATT	p.T357I	TUB_uc010rbk.1_Missense_Mutation_p.T363I|TUB_uc001mfy.2_Missense_Mutation_p.T412I	NM_177972	NP_813977	P50607	TUB_HUMAN	tubby isoform b	357					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TCATCCTCCACTTTGGAAAGT	0.478		NA									OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	53					0	0	0	0
RIC3	79608	broad.mit.edu	37	11	8132603	8132604	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:8132603_8132604GG>AA	uc001mgd.2	-	6	805_806	c.751_752CC>TT	c.(751-753)CCT>TTT	p.P251F	RIC3_uc001mgb.2_Missense_Mutation_p.P89F|RIC3_uc001mgc.2_Missense_Mutation_p.P250F|RIC3_uc001mge.2_Missense_Mutation_p.P69F|RIC3_uc010rbl.1_Missense_Mutation_p.P201F|RIC3_uc010rbm.1_Missense_Mutation_p.P279F|RIC3_uc009yfm.2_Missense_Mutation_p.P170F|RIC3_uc009yfn.2_Missense_Mutation_p.P54F	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	251	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTTTGGGTCAGGGTAATCCACC	0.421		NA											36	61					0	0	0	0
ZNF143	7702	broad.mit.edu	37	11	9492911	9492911	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9492911G>A	uc001mhr.2	+	2	174	c.56G>A	c.(55-57)GGA>GAA	p.G19E	ZNF143_uc009yfu.2_Missense_Mutation_p.G19E|ZNF143_uc010rby.1_Missense_Mutation_p.G19E	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	19					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TTTCCTGGAGGAGGGATGGAG	0.438		NA											17	64					0	0	0	0
SBF2	81846	broad.mit.edu	37	11	9917511	9917511	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:9917511A>T	uc001mib.2	-	17	2046	c.1908T>A	c.(1906-1908)CCT>CCA	p.P636P	SBF2_uc001mif.3_Silent_p.P392P|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	636					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CACTGGTCAAAGGGAGTAATG	0.323		NA											40	152					0	0	0	0
MICAL2	9645	broad.mit.edu	37	11	12257762	12257762	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:12257762G>A	uc001mjz.2	+	16	2322	c.2034G>A	c.(2032-2034)CGG>CGA	p.R678R	MICAL2_uc010rch.1_Silent_p.R678R|MICAL2_uc001mka.2_Silent_p.R678R|MICAL2_uc010rci.1_Silent_p.R678R|MICAL2_uc001mkb.2_Silent_p.R678R|MICAL2_uc001mkc.2_Silent_p.R678R|MICAL2_uc001mkd.2_Silent_p.R507R|MICAL2_uc010rcj.1_Silent_p.R80R	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	678						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TGAACAAACGGAGACGGAAGG	0.552		NA									OREG0020771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	62					0	0	0	0
ANO5	203859	broad.mit.edu	37	11	22296187	22296187	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22296187A>C	uc001mqi.2	+	20	2625	c.2308A>C	c.(2308-2310)ACA>CCA	p.T770P	ANO5_uc001mqj.2_Missense_Mutation_p.T769P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	770	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						AACAAATGCCACACAGCCTAT	0.393		NA											17	74					0	0	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364834	22364834	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:22364834C>T	uc001mqk.2	+	3	794	c.381C>T	c.(379-381)ATC>ATT	p.I127I		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	127	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGGGGATGATCCACGGTTCCT	0.542		NA											16	109					0	0	0	0
MUC15	143662	broad.mit.edu	37	11	26582706	26582706	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:26582706G>A	uc001mqx.2	-	4	1177	c.911C>T	c.(910-912)CCA>CTA	p.P304L	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.P331L|MUC15_uc001mqy.2_Missense_Mutation_p.P281L	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	304	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						ATTCAAAGTTGGATTGTAGTA	0.378		NA											12	35					0	0	0	0
SYT13	57586	broad.mit.edu	37	11	45274137	45274137	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45274137G>A	uc001myq.2	-	4	807	c.681C>T	c.(679-681)CTC>CTT	p.L227L	SYT13_uc009yku.1_Silent_p.L83L	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	227	Cytoplasmic (Potential).|C2 1.					transport vesicle				ovary(1)	1						CCGCCAGGGGGAGCACCAGGC	0.677		NA									OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	38					0	0	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919661	45919661	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:45919661G>A	uc001nbr.2	+	2	297	c.127G>A	c.(127-129)GAG>AAG	p.E43K	MAPK8IP1_uc010rgp.1_Missense_Mutation_p.E27K	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	43	Asp/Glu-rich (acidic).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		CAGCCTGGAGGAGTTTGAGGA	0.542		NA											4	33					0	0	0	0
DDB2	1643	broad.mit.edu	37	11	47256377	47256377	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47256377C>T	uc001neb.2	+	6	967	c.772C>T	c.(772-774)CTG>TTG	p.L258L	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Silent_p.L194L|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Silent_p.L117L|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	258	DWD box.|WD 3.			L->A: Impairs interaction with DDB1.	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TGATTGGTTCCTGGCCACAGC	0.537		NA	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				6	35					0	0	0	0
MYBPC3	4607	broad.mit.edu	37	11	47359002	47359002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47359002C>T	uc001nfa.3	-	24	2597	c.2542G>A	c.(2542-2544)GCG>ACG	p.A848T	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	847	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GCGTTGACCGCGTAGACGCGC	0.662		NA											6	36					0	0	0	0
CELF1	10658	broad.mit.edu	37	11	47510497	47510497	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47510497G>A	uc001nfl.2	-	1	80	c.70C>T	c.(70-72)CCA>TCA	p.P24S	CELF1_uc001nfm.2_Missense_Mutation_p.P24S|CELF1_uc001nfn.2_Missense_Mutation_p.P24S|CELF1_uc001nfo.1_Missense_Mutation_p.P51S|CELF1_uc010rhm.1_Missense_Mutation_p.P24S|CELF1_uc001nfp.2_Missense_Mutation_p.P51S|CELF1_uc001nfq.1_Missense_Mutation_p.P24S|CELF1_uc001nfr.1_Missense_Mutation_p.P24S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	24	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						CAGGTCCTTGGAACCTGGCCC	0.483		NA											30	95					0	0	0	0
MTCH2	23788	broad.mit.edu	37	11	47650568	47650568	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47650568G>A	uc010rho.1	-	9	759	c.570C>T	c.(568-570)ATC>ATT	p.I190I	MTCH2_uc001nge.2_Silent_p.I63I|MTCH2_uc010rhp.1_Silent_p.I42I	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	190	Solcar 2.|Helical; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0						ACAAAGAAAGGATGTCACCTA	0.453		NA											9	21					0	0	0	0
NUP160	23279	broad.mit.edu	37	11	47861509	47861509	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:47861509G>A	uc001ngm.2	-	4	719	c.634C>T	c.(634-636)CCT>TCT	p.P212S	NUP160_uc009ylw.2_RNA|NUP160_uc001ngn.1_3'UTR	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	212					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GTGGAATTAGGAGATATTCCA	0.463		NA											21	88					0	0	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	G	A	rs141762692		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:51412038G>A	uc001nhi.1	-	1	358	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468		NA											13	44					0	0	0	0
OR4A15	81328	broad.mit.edu	37	11	55135800	55135800	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55135800C>T	uc010rif.1	+	1	441	c.441C>T	c.(439-441)GCC>GCT	p.A147A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	147	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGGTAATGGCCTATGATCGAT	0.438		NA											33	176					0	0	0	0
OR4C11	219429	broad.mit.edu	37	11	55371161	55371161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55371161C>T	uc010rii.1	-	1	689	c.689G>A	c.(688-690)GGG>GAG	p.G230E		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTTTTCTTCCCTTTGGCACT	0.408		NA											10	20					0	0	0	0
OR4C6	219432	broad.mit.edu	37	11	55433433	55433433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55433433C>T	uc001nht.3	+	3	1056	c.791C>T	c.(790-792)CCC>CTC	p.P264L	OR4C6_uc010rik.1_Missense_Mutation_p.P264L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GTCACTCACCCCATAGACAAG	0.488		NA											34	77					0	0	0	0
SPRYD5	84767	broad.mit.edu	37	11	55652952	55652952	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55652952C>T	uc010rip.1	+	2	140	c.48C>T	c.(46-48)CCC>CCT	p.P16P	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	16	RING-type.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TCACCTGTCCCATCTGCATGA	0.493		NA											12	127					0	0	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798251	55798251	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55798251T>C	uc010riw.1	+	1	357	c.357T>C	c.(355-357)GCT>GCC	p.A119A		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					CAGCAATGGCTTATGACCGCT	0.463		NA											26	36					0	0	0	0
OR5J2	282775	broad.mit.edu	37	11	55944497	55944497	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:55944497C>T	uc010rjb.1	+	1	404	c.404C>T	c.(403-405)GCC>GTC	p.A135V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TACACTGTAGCCATGTCTGAT	0.453		NA											38	76					0	0	0	0
OR5T3	390154	broad.mit.edu	37	11	56019871	56019871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56019871C>T	uc010rjd.1	+	1	196	c.196C>T	c.(196-198)CTC>TTC	p.L66F		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	66	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TGCAATCTATCTCTTTACCTT	0.368		NA											21	78					0	0	0	0
OR5R1	219479	broad.mit.edu	37	11	56184848	56184849	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:56184848_56184849GG>AA	uc010rji.1	-	1	860_861	c.860_861CC>TT	c.(859-861)CCC>CTT	p.P287L		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TATAGATTAGGGGGTTTAACAT	0.361		NA											18	99					0	0	0	0
SLC43A1	8501	broad.mit.edu	37	11	57254631	57254631	+	Silent	SNP	G	G	A	rs142620907	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57254631G>A	uc001nkk.2	-	14	1588	c.1470C>T	c.(1468-1470)TTC>TTT	p.F490F	SLC43A1_uc001nkl.2_Silent_p.F490F	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	490	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						GAAGCAAGGCGAACACAGCAC	0.612		NA											8	31					0	0	0	0
OR1S2	219958	broad.mit.edu	37	11	57970986	57970986	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:57970986G>A	uc010rkb.1	-	1	668	c.668C>T	c.(667-669)CCC>CTC	p.P223L		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	223	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GAGTACAAAGGGGAAGATGAT	0.448		NA											18	87					0	0	0	0
OR5B3	441608	broad.mit.edu	37	11	58170000	58170000	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:58170000C>T	uc010rkf.1	-	1	883	c.883G>A	c.(883-885)GTG>ATG	p.V295M		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCACTCTTCACTTCCTTGTTC	0.433		NA											23	138					0	0	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132056	59132056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59132056G>A	uc010rks.1	+	1	125	c.125G>A	c.(124-126)TGG>TAG	p.W42*		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTCTGGCCTGGAACCTCTCC	0.418		NA											54	114					0	0	0	0
OR5A1	219982	broad.mit.edu	37	11	59211004	59211004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59211004G>A	uc001nnx.1	+	1	363	c.363G>A	c.(361-363)ATG>ATA	p.M121I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	121	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TGACTGCTATGGCATACGACC	0.532		NA											74	192					0	0	0	0
GIF	2694	broad.mit.edu	37	11	59610013	59610013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59610013C>T	uc001noi.2	-	4	462	c.414G>A	c.(412-414)GCG>GCA	p.A138A	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						GTGCCAAGATCGCTAGACTGG	0.557		NA											13	62					0	0	0	0
GIF	2694	broad.mit.edu	37	11	59612891	59612891	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59612891G>A	uc001noi.2	-	1	84	c.36C>T	c.(34-36)CTC>CTT	p.L12L	GIF_uc010rkz.1_Silent_p.L12L	NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	12					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						CTGTAGCCCAGAGAAGGCTCA	0.522		NA											53	178					0	0	0	0
MS4A6A	64231	broad.mit.edu	37	11	59945756	59945756	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:59945756C>T	uc001nor.2	-	4	554	c.316G>A	c.(316-318)GAG>AAG	p.E106K	MS4A6A_uc001noq.2_Missense_Mutation_p.E106K|MS4A6A_uc001nos.3_Missense_Mutation_p.E134K|MS4A6A_uc009ymv.2_Missense_Mutation_p.E106K|MS4A6A_uc001not.2_Missense_Mutation_p.E106K|MS4A6A_uc010rla.1_Missense_Mutation_p.E134K|MS4A6A_uc010rlb.1_Missense_Mutation_p.E61K	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member	106	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						AACCTTTTCTCTGTGGCGATT	0.393		NA											5	91					0	0	0	0
MS4A7	58475	broad.mit.edu	37	11	60152592	60152592	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60152592C>T	uc001npe.2	+	3	324	c.179C>T	c.(178-180)TCA>TTA	p.S60L	MS4A7_uc001npf.2_Missense_Mutation_p.S60L|MS4A7_uc001npg.2_Intron|MS4A7_uc001nph.2_Intron|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	60	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2						CTGTTGATTTCAAGTCTGGGG	0.448		NA											67	141					0	0	0	0
MS4A1	931	broad.mit.edu	37	11	60230539	60230540	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60230539_60230540GG>AA	uc001npp.2	+	4	640_641	c.224_225GG>AA	c.(223-225)GGG>GAA	p.G75E	MS4A1_uc009ymy.1_Missense_Mutation_p.G75E|MS4A1_uc001npq.2_Missense_Mutation_p.G75E|MS4A1_uc009yna.2_Missense_Mutation_p.G75E|MS4A1_uc009ymz.2_Missense_Mutation_p.G75E|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	75	Helical; (Potential).|Epitope 1.				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATCCCAGCAGGGATCTATGCAC	0.515		NA											28	160					0	0	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696260	60696260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60696260C>T	uc001nqj.2	+	4	887	c.694C>T	c.(694-696)CTC>TTC	p.L232F	TMEM132A_uc001nqi.2_Missense_Mutation_p.L232F|TMEM132A_uc001nqk.2_Missense_Mutation_p.L245F|TMEM132A_uc001nql.1_Missense_Mutation_p.L245F	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	232	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGAGCAGGCCCTCCCAGTGGG	0.697		NA											6	17					0	0	0	0
CD6	923	broad.mit.edu	37	11	60781393	60781393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:60781393C>T	uc001nqq.2	+	8	1517	c.1294C>T	c.(1294-1296)CTC>TTC	p.L432F	CD6_uc001nqp.2_Missense_Mutation_p.L432F|CD6_uc001nqr.2_Intron|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.L432F	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	432	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						TCCCTCAGCCCTCCCCGTAAT	0.547		NA											10	27					0	0	0	0
C11orf9	745	broad.mit.edu	37	11	61548706	61548706	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61548706C>T	uc001nsc.1	+	21	2765	c.2669C>T	c.(2668-2670)CCC>CTC	p.P890L	C11orf9_uc001nse.1_Missense_Mutation_p.P855L|C11orf9_uc010rll.1_Missense_Mutation_p.P281L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	890					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TGTTCCTCACCCACTAccaac	0.353		NA											26	82					0	0	0	0
FADS2	9415	broad.mit.edu	37	11	61583899	61583899	+	Splice_Site	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:61583899G>T	uc001nsj.2	+	1	171	c.141_splice	c.e1+1	p.Q47_splice	FADS2_uc010rlo.1_5'UTR|FADS1_uc001nsh.2_5'Flank|FADS1_uc010rlm.1_Intron|FADS1_uc010rln.1_5'Flank|MIR1908_hsa-mir-1908|MI0008329_5'Flank	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2						electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CGGGCAACAGGTATGATCAGG	0.617		NA											19	32					1.64e-05	1.67e-05	1	0
AHNAK	79026	broad.mit.edu	37	11	62288196	62288196	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62288196G>A	uc001ntl.2	-	5	13993	c.13693C>T	c.(13693-13695)CCT>TCT	p.P4565S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4565					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCAATATCAGGAGTGTCAATG	0.448		NA											15	96					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62291267	62291267	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62291267G>A	uc001ntl.2	-	5	10922	c.10622C>T	c.(10621-10623)CCC>CTC	p.P3541L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3541					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGAGATCTTGGGAGCTTTGAT	0.468		NA											45	238					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62298332	62298332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62298332G>A	uc001ntl.2	-	5	3857	c.3557C>T	c.(3556-3558)CCT>CTT	p.P1186L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1186					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGCATCTCAGGCATCTTAAA	0.527		NA											71	365					0	0	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520304	62520305	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62520304_62520305GG>AA	uc001nuz.2	-	2	1104_1105	c.982_983CC>TT	c.(982-984)CCA>TTA	p.P328L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3						ggctgacgttggggctgaggct	0.337		NA											12	69					0	0	0	0
SLC3A2	6520	broad.mit.edu	37	11	62651938	62651938	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62651938G>A	uc001nwd.2	+	7	1227	c.1003G>A	c.(1003-1005)GAG>AAG	p.E335K	SLC3A2_uc001nwb.2_Missense_Mutation_p.E366K|SLC3A2_uc001nwc.2_Missense_Mutation_p.E336K|SLC3A2_uc001nwe.2_Missense_Mutation_p.E304K|SLC3A2_uc001nwf.2_Missense_Mutation_p.E273K|SLC3A2_uc001nwg.2_Missense_Mutation_p.E234K|SLC3A2_uc010rml.1_RNA	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	335	Extracellular (Potential).				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						GGATGCTCTGGAGTTTTGGCT	0.502		NA									OREG0021032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	120					0	0	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655841	62655841	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:62655841C>T	uc001nwd.2	+	12	1793	c.1569C>T	c.(1567-1569)TTC>TTT	p.F523F	SLC3A2_uc001nwb.2_Silent_p.F554F|SLC3A2_uc001nwc.2_Silent_p.F524F|SLC3A2_uc001nwe.2_Silent_p.F492F|SLC3A2_uc001nwf.2_Silent_p.F461F|SLC3A2_uc001nwg.2_Silent_p.F422F	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	523	Extracellular (Potential).				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						TTTCCTTGTTCCGGCGGCTGA	0.572		NA											16	75					0	0	0	0
PLCB3	5331	broad.mit.edu	37	11	64026070	64026070	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64026070G>A	uc001nzb.2	+	11	1138	c.1138G>A	c.(1138-1140)GGC>AGC	p.G380S	PLCB3_uc009ypg.1_Missense_Mutation_p.G380S|PLCB3_uc009yph.1_Missense_Mutation_p.G313S|PLCB3_uc009ypi.2_Missense_Mutation_p.G380S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	380	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CATTACCCACGGCTTCACCAT	0.632		NA											17	93					0	0	0	0
NRXN2	9379	broad.mit.edu	37	11	64436058	64436058	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64436058C>T	uc001oar.2	-	9	1655	c.1216G>A	c.(1216-1218)GGG>AGG	p.G406R	NRXN2_uc001oas.2_Missense_Mutation_p.G375R|NRXN2_uc001oaq.2_Missense_Mutation_p.G73R	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GTCAGGATCCCGTCCACCGAG	0.572		NA											23	100					0	0	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64693256	64693256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64693256C>T	uc001oby.2	+	2	635	c.50C>T	c.(49-51)CCC>CTC	p.P17L	PPP2R5B_uc001obz.2_Missense_Mutation_p.P17L	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	17					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCCTCCTCCCCCGGGCTGTCG	0.711		NA											9	8					0	0	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64694328	64694328	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64694328G>A	uc001oby.2	+	3	929	c.344G>A	c.(343-345)GGG>GAG	p.G115E	PPP2R5B_uc001obz.2_Missense_Mutation_p.G115E	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	115					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GAGTGTGTGGGGAGCACCCGG	0.652		NA											11	35					0	0	0	0
SYVN1	84447	broad.mit.edu	37	11	64897364	64897364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:64897364G>A	uc001odb.2	-	14	1526	c.1432C>T	c.(1432-1434)CCT>TCT	p.P478S	SYVN1_uc001odc.2_Missense_Mutation_p.P477S|SYVN1_uc009yqc.2_Missense_Mutation_p.P426S	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	478	Pro-rich.|Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						AAGCCCGCAGGGGGCACAGGC	0.657		NA											5	22					0	0	0	0
SLC22A20	440044	broad.mit.edu	37	11	65000797	65000798	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65000797_65000798CC>TT	uc010roc.1	+	8	1223_1224	c.1220_1221CC>TT	c.(1219-1221)GCC>GTT	p.A407V		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	407	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CTCATCCTGGCCGGGCTCATGG	0.609		NA											9	15					0	0	0	0
PCNXL3	399909	broad.mit.edu	37	11	65398034	65398034	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65398034G>A	uc001oey.2	+	27	4429	c.4429G>A	c.(4429-4431)GTT>ATT	p.V1477I	PCNXL3_uc001oez.2_Missense_Mutation_p.V364I	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1477						integral to membrane					0						CATGCTGCAGGTTTTCGACCT	0.592		NA											12	44					0	0	0	0
MUS81	80198	broad.mit.edu	37	11	65633309	65633309	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:65633309C>T	uc001ofv.3	+	15	1886	c.1533C>T	c.(1531-1533)GCC>GCT	p.A511A	MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_Silent_p.A68A	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	511					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		ATGCCTGTGCCACCCCCAAGG	0.627		NA						Homologous_recombination					17	101					0	0	0	0
PACS1	55690	broad.mit.edu	37	11	66002814	66002814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66002814G>A	uc001oha.1	+	18	2281	c.2147G>A	c.(2146-2148)GGG>GAG	p.G716E	PACS1_uc010rou.1_Missense_Mutation_p.G252E	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						TACGTCAACGGGGCAGCCACG	0.537		NA											26	59					0	0	0	0
CD248	57124	broad.mit.edu	37	11	66082791	66082791	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66082791G>A	uc001ohm.1	-	1	1725	c.1708C>T	c.(1708-1710)CCA>TCA	p.P570S		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	570	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	AGGGCATCTGGGGCTTGAGGG	0.637		NA											53	92					0	0	0	0
ACTN3	89	broad.mit.edu	37	11	66319003	66319003	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66319003G>A	uc001oio.1	+	3	285	c.267G>A	c.(265-267)GAG>GAA	p.E89E	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	89	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						ACCCAGGTGAGAGGCTGCCTA	0.547		NA											3	22					0	0	0	0
ACTN3	89	broad.mit.edu	37	11	66330270	66330270	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330270G>A	uc001oio.1	+	21	2410	c.2392G>A	c.(2392-2394)GAA>AAA	p.E798K	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	798	EF-hand 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						CCTGCAGGGGGAAGTGGAGTT	0.473		NA											31	176					0	0	0	0
ACTN3	89	broad.mit.edu	37	11	66330648	66330648	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66330648G>A	uc001oio.1	+	22	2708	c.2690G>A	c.(2689-2691)GGG>GAG	p.G897E	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	897					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						GCCCTCTATGGGGAGAGCGAC	0.622		NA											14	62					0	0	0	0
RBM14	10432	broad.mit.edu	37	11	66391953	66391953	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66391953C>T	uc001oit.2	+	2	745	c.606C>T	c.(604-606)GCC>GCT	p.A202A	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	202					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ATGGGCAAGCCCGTCAGCCCA	0.632		NA											10	55					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460040	66460040	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66460040G>A	uc001ojd.2	-	25	5229	c.5157C>T	c.(5155-5157)TCC>TCT	p.S1719S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1719	Spectrin 14.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCAGCTCGTGGGAGGCCGCCA	0.662		NA											13	48					0	0	0	0
SPTBN2	6712	broad.mit.edu	37	11	66463938	66463938	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:66463938C>T	uc001ojd.2	-	20	4160	c.4088G>A	c.(4087-4089)AGG>AAG	p.R1363K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1363	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTCCCAGCGCCTGTGCAGGTC	0.602		NA											21	137					0	0	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433649	67433649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:67433649C>T	uc001omr.2	-	6	702	c.263G>A	c.(262-264)GGA>GAA	p.G88E	ALDH3B2_uc001oms.2_Missense_Mutation_p.G88E|ALDH3B2_uc009ysa.1_Missense_Mutation_p.G88E	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	88					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	CTCCTGGGGTCCGCCCAGCAC	0.642		NA											16	100					0	0	0	0
SHANK2	22941	broad.mit.edu	37	11	70506043	70506043	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:70506043C>T	uc001oqc.2	-	14	2029	c.1951G>A	c.(1951-1953)GAA>AAA	p.E651K	SHANK2_uc010rqn.1_Missense_Mutation_p.E63K|SHANK2_uc001opz.2_Missense_Mutation_p.E63K|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.E63K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	272	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGAATTCTTCAATGGGTGTG	0.582		NA											4	43					0	0	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553697	72553697	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:72553697T>A	uc009ytl.2	-	17	2116	c.1895A>T	c.(1894-1896)AAT>ATT	p.N632I	FCHSD2_uc010rrg.1_Missense_Mutation_p.N496I|FCHSD2_uc001oth.3_Missense_Mutation_p.N576I|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	632							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGTGTCACCATTTTCTGAGGC	0.438		NA											19	149					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021299	73021300	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021299_73021300CC>TT	uc001otu.2	+	1	1637_1638	c.1616_1617CC>TT	c.(1615-1617)GCC>GTT	p.A539V		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	539					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GACTTGACAGCCACTCTGCGGA	0.639		NA											12	42					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021729	73021730	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73021729_73021730CC>TT	uc001otu.2	+	1	2067_2068	c.2046_2047CC>TT	c.(2044-2049)GGCCCT>GGTTCT	p.P683S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	683					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						ACCACCATGGCCCTGGGACTGA	0.658		NA											12	44					0	0	0	0
C2CD3	26005	broad.mit.edu	37	11	73789715	73789715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:73789715G>A	uc001ouu.2	-	23	4275	c.4048C>T	c.(4048-4050)CCT>TCT	p.P1350S	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1350						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					AGGCCATGAGGTAGGCCCCCG	0.453		NA											21	95					0	0	0	0
GAB2	9846	broad.mit.edu	37	11	77937683	77937683	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:77937683C>T	uc001ozh.2	-	4	1035	c.1035G>A	c.(1033-1035)GGG>GGA	p.G345G	GAB2_uc001ozg.2_Silent_p.G307G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	345					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGGCTGAGTCCCCAGGAGTGG	0.567		NA											11	80					0	0	0	0
SYTL2	54843	broad.mit.edu	37	11	85445671	85445671	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:85445671G>A	uc010rth.1	-	6	974	c.698C>T	c.(697-699)CCA>CTA	p.P233L	SYTL2_uc010rtg.1_Missense_Mutation_p.P234L|SYTL2_uc010rti.1_Missense_Mutation_p.P233L|SYTL2_uc010rtj.1_Missense_Mutation_p.P185L|SYTL2_uc001pbf.3_Missense_Mutation_p.P233L|SYTL2_uc010rtf.1_Missense_Mutation_p.P91L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	233					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGGGGATTGGAGCCTTGAT	0.408		NA											17	70					0	0	0	0
GRM5	2915	broad.mit.edu	37	11	88780752	88780752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88780752C>T	uc001pcq.2	-	1	489	c.289G>A	c.(289-291)GAC>AAC	p.D97N	GRM5_uc009yvm.2_Missense_Mutation_p.D97N|GRM5_uc009yvn.1_Missense_Mutation_p.D97N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	97	Extracellular (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)	CAGCAGGAGTCCCTTATCTCA	0.512		NA											9	26					0	0	0	0
TYR	7299	broad.mit.edu	37	11	88911532	88911533	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:88911532_88911533CC>AT	uc001pcs.2	+	1	493_494	c.411_412CC>AT	c.(409-414)TACCTC>TAATTC	p.137_138YL>*F		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	137_138	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTTTGCCTACCTCACTTTAGC	0.441		NA							Oculocutaneous_Albinism				24	194					0	0	0	0
NAALAD2	10003	broad.mit.edu	37	11	89902144	89902144	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:89902144G>C	uc001pdf.3	+	12	1435	c.1326G>C	c.(1324-1326)TCG>TCC	p.S442S	NAALAD2_uc009yvx.2_Silent_p.S409S|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	442	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATATCAACTCGGATTCATCTA	0.294		NA											8	73					0	0	0	0
FAT3	120114	broad.mit.edu	37	11	92624018	92624018	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:92624018G>A	uc001pdj.3	+	25	13430	c.13413G>A	c.(13411-13413)ACG>ACA	p.T4471T	FAT3_uc001pdi.3_Silent_p.T943T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4503	Pro-rich.|Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAACGAAACGGATTTGGTGG	0.582		NA								TCGA Ovarian(4;0.039)			15	32					0	0	0	0
GPR83	10888	broad.mit.edu	37	11	94129658	94129658	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94129658C>T	uc001pet.2	-	2	592	c.420G>A	c.(418-420)GGG>GGA	p.G140G		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	140	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACATGCCCTTCCCAAATATCC	0.547		NA											18	37					0	0	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230098	94230098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94230098G>A	uc001pew.2	+	2	378	c.239G>A	c.(238-240)TGG>TAG	p.W80*	ANKRD49_uc001pex.2_Nonsense_Mutation_p.W80*|ANKRD49_uc001pey.2_5'Flank	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	80	ANK 1.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTTCTTTGGGCTGCTGAA	0.393		NA											27	109					0	0	0	0
KDM4DL	390245	broad.mit.edu	37	11	94759406	94759406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759406C>T	uc010ruf.1	+	1	985	c.685C>T	c.(685-687)CCA>TCA	p.P229S		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4D-like	229	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GGAGCTCTTCCCAGACATTTC	0.552		NA											12	42					0	0	0	0
KDM4DL	390245	broad.mit.edu	37	11	94759491	94759491	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:94759491C>T	uc010ruf.1	+	1	1070	c.770C>T	c.(769-771)CCC>CTC	p.P257L		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4D-like	257	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AATGGGATTCCCTTCAATTGC	0.547		NA											9	42					0	0	0	0
MMP27	64066	broad.mit.edu	37	11	102567462	102567462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102567462C>T	uc001phd.1	-	5	747	c.724G>A	c.(724-726)GAT>AAT	p.D242N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TTTCTGGGATCCAGGGAGACA	0.403		NA											10	44					0	0	0	0
MMP13	4322	broad.mit.edu	37	11	102825319	102825319	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:102825319G>A	uc001phl.2	-	3	407	c.379C>T	c.(379-381)CCT>TCT	p.P127S		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	127					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCATATCAGGGGTGTAATTC	0.343		NA											23	61					0	0	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006531	103006531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:103006531C>T	uc001pho.2	+	17	2572	c.2428C>T	c.(2428-2430)CCA>TCA	p.P810S	DYNC2H1_uc001phn.1_Missense_Mutation_p.P810S|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	810	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCGGCATTCCAAATCAGTT	0.358		NA											6	39					0	0	0	0
CASP5	838	broad.mit.edu	37	11	104878062	104878062	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:104878062C>T	uc010rva.1	-	3	214	c.182_splice	c.e3-1	p.K61_splice	CASP5_uc010ruz.1_Splice_Site_p.K74_splice|CASP5_uc010rvb.1_Splice_Site_p.E3_splice|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Splice_Site|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TGGTTGTCTTCTGTCAGAAAT	0.353		NA											15	97					0	0	0	0
GRIA4	2893	broad.mit.edu	37	11	105789574	105789574	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:105789574A>T	uc001pix.2	+	11	1852	c.1406A>T	c.(1405-1407)GAT>GTT	p.D469V	GRIA4_uc001piw.2_Missense_Mutation_p.D469V	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	469	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTGTCCCTGATGGAAAATAT	0.358		NA											14	34					0	0	0	0
NPAT	4863	broad.mit.edu	37	11	108031734	108031734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108031734C>T	uc001pjz.3	-	17	4181	c.4079G>A	c.(4078-4080)AGA>AAA	p.R1360K	NPAT_uc010rvv.1_Missense_Mutation_p.R416K	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1360					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAAGATGCTCTAAACTGTTG	0.403		NA											21	91					0	0	0	0
C11orf65	160140	broad.mit.edu	37	11	108276232	108276232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:108276232G>A	uc001pkh.2	-	6	554	c.484C>T	c.(484-486)CAT>TAT	p.H162Y	C11orf65_uc010rvx.1_Missense_Mutation_p.H113Y|C11orf65_uc009yxu.1_RNA	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	162										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTAGAGAAATGGAATTCACTT	0.318		NA											14	69					0	0	0	0
ZW10	9183	broad.mit.edu	37	11	113631062	113631062	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:113631062G>A	uc001poe.2	-	5	486	c.449C>T	c.(448-450)TCC>TTC	p.S150F	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	150	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GCATTTTCTGGATTTTAATAA	0.353		NA											17	65					0	0	0	0
FAM55A	120400	broad.mit.edu	37	11	114392934	114392934	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114392934C>G	uc001ppa.2	-	6	1391	c.974G>C	c.(973-975)AGA>ACA	p.R325T	FAM55A_uc010rxd.1_Missense_Mutation_p.R174T	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	467						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GGCTGGGCTTCTTAGGAACAG	0.418		NA											44	72					0	0	0	0
FAM55B	120406	broad.mit.edu	37	11	114568989	114568989	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:114568989C>T	uc009yyy.2	+	3	453	c.355C>T	c.(355-357)CCT>TCT	p.P119S		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	hypothetical protein LOC120406	119						integral to membrane				ovary(1)	1						CATCCTCAACCCTCAAGATAC	0.547		NA											18	48					0	0	0	0
BUD13	84811	broad.mit.edu	37	11	116631629	116631629	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:116631629G>A	uc001ppn.2	-	5	1110	c.1076C>T	c.(1075-1077)CCA>CTA	p.P359L	BUD13_uc001ppo.2_Missense_Mutation_p.P225L|BUD13_uc009yzc.2_Missense_Mutation_p.P359L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	359										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTTATGCCGTGGAGAAGAAAG	0.478		NA											14	65					0	0	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301448	117301448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:117301448C>T	uc001prh.1	-	32	5858	c.5856G>A	c.(5854-5856)CGG>CGA	p.R1952R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1892	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTGTTGGCCCGGTGAGGGA	0.667		NA											14	98					0	0	0	0
MPZL3	196264	broad.mit.edu	37	11	118111019	118111019	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118111019C>T	uc001psm.2	-	2	149	c.147G>A	c.(145-147)AAG>AAA	p.K49K	MPZL3_uc010rxy.1_Silent_p.K37K|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	49	Ig-like V-type.				cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGCATTTCAACTTGATCTTTT	0.423		NA											21	55					0	0	0	0
MPZL2	10205	broad.mit.edu	37	11	118133656	118133656	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118133656G>A	uc001psn.2	-	2	356	c.215C>T	c.(214-216)CCT>CTT	p.P72L	MPZL2_uc001pso.2_Missense_Mutation_p.P72L|MPZL2_uc001psp.1_Missense_Mutation_p.P72L	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	72	Extracellular (Potential).|Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AAACTGCTCAGGTCCCCCGTC	0.438		NA											73	158					0	0	0	0
MLL	4297	broad.mit.edu	37	11	118390382	118390382	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:118390382C>T	uc001pta.2	+	32	11210	c.11187C>T	c.(11185-11187)TTC>TTT	p.F3729F	MLL_uc001ptb.2_Silent_p.F3732F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3729	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGTTGTGTTCCTCATTGAGC	0.512		NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								64	103					0	0	0	0
HINFP	25988	broad.mit.edu	37	11	119005131	119005131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119005131G>A	uc001pvp.2	+	11	1666	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	HINFP_uc001pvq.2_Missense_Mutation_p.A493T|HINFP_uc001pvr.2_Missense_Mutation_p.A246T	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	493	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GCCTCCCCCAGCCCCTGAGCC	0.567		NA									OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	0	0
NLRX1	79671	broad.mit.edu	37	11	119044583	119044583	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119044583C>T	uc001pvu.2	+	5	840	c.625C>T	c.(625-627)CCA>TCA	p.P209S	NLRX1_uc010rzc.1_Missense_Mutation_p.P31S|NLRX1_uc001pvv.2_Missense_Mutation_p.P209S|NLRX1_uc001pvw.2_Missense_Mutation_p.P209S|NLRX1_uc001pvx.2_Missense_Mutation_p.P209S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	209	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGCCCTGCCCCAGCCTCCCT	0.642		NA											17	28					0	0	0	0
NLRX1	79671	broad.mit.edu	37	11	119052950	119052950	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119052950C>T	uc001pvu.2	+	9	2717	c.2502C>T	c.(2500-2502)AAC>AAT	p.N834N	NLRX1_uc001pvv.2_Silent_p.N834N|NLRX1_uc001pvw.2_Silent_p.N834N|NLRX1_uc001pvx.2_Silent_p.N834N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	834	LRR 5.|Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGACCGCAACCGGCAGCTGC	0.682		NA											15	67					0	0	0	0
MCAM	4162	broad.mit.edu	37	11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:119183335C>T	uc001pwf.2	-	7	792	c.763G>A	c.(763-765)GAA>AAA	p.E255K	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.E255K(1)		ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577		NA											23	144					0	0	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120347993	120347993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:120347993T>A	uc001pxl.1	+	35	3438	c.3431T>A	c.(3430-3432)TTA>TAA	p.L1144*	ARHGEF12_uc009zat.2_Nonsense_Mutation_p.L1125*|ARHGEF12_uc010rzn.1_Nonsense_Mutation_p.L1041*|ARHGEF12_uc009zau.1_Nonsense_Mutation_p.L1041*	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1144					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAATTCCATTACCACAGTCA	0.398		NA	T	MLL	AML								20	29					0	0	0	0
TECTA	7007	broad.mit.edu	37	11	121008716	121008716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:121008716C>A	uc010rzo.1	+	10	3528	c.3528C>A	c.(3526-3528)TAC>TAA	p.Y1176*		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1176	VWFD 3.				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)		ACCGAGCTTACAAGCACACTG	0.577		NA											7	29					8.13e-05	8.25e-05	1	0
TMEM225	338661	broad.mit.edu	37	11	123755988	123755988	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123755988G>T	uc001pzi.2	-	1	353	c.145C>A	c.(145-147)CCT>ACT	p.P49T		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	49						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						ATCATCCAAGGACTGTGGTTC	0.463		NA											31	73					9.18e-22	9.53e-22	1	0
OR10G4	390264	broad.mit.edu	37	11	123887148	123887148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123887148G>A	uc010sac.1	+	1	867	c.867G>A	c.(865-867)CTG>CTA	p.L289L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTACACCCTGAGAAACAAGG	0.438		NA											11	93					0	0	0	0
OR10G9	219870	broad.mit.edu	37	11	123894355	123894355	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123894355G>A	uc010sad.1	+	1	636	c.636G>A	c.(634-636)CTG>CTA	p.L212L		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTTTCTCCTGATAGTGCTGT	0.567		NA											45	94					0	0	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123900446G>A	uc001pzp.1	+	1	117	c.117G>A	c.(115-117)GGG>GGA	p.G39G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562		NA											49	111					0	0	0	0
OR10G8	219869	broad.mit.edu	37	11	123901244	123901244	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123901244A>T	uc001pzp.1	+	1	915	c.915A>T	c.(913-915)GTA>GTT	p.V305V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGACAAAGTAGCACATTCTC	0.284		NA											10	63					0	0	0	0
OR8D1	283159	broad.mit.edu	37	11	124180597	124180597	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124180597C>A	uc010sag.1	-	1	66	c.66G>T	c.(64-66)GAG>GAT	p.E22D		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCAGCTGGAGCTCTGCTTGCT	0.453		NA											22	137					1.66e-10	1.71e-10	1	0
PANX3	116337	broad.mit.edu	37	11	124487183	124487183	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124487183C>T	uc001qah.2	+	3	338	c.338C>T	c.(337-339)TCC>TTC	p.S113F		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	113	Extracellular (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCCCCTACTCCCTGCTGGCC	0.647		NA											5	29					0	0	0	0
CCDC15	80071	broad.mit.edu	37	11	124829770	124829770	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:124829770G>A	uc001qbm.3	+	4	646	c.387G>A	c.(385-387)AGG>AGA	p.R129R		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	129						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTTCCAAAAGGACAAGTGTTT	0.428		NA											5	21					0	0	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267805	125267805	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125267805G>T	uc001qbu.2	+	7	749	c.435G>T	c.(433-435)CTG>CTT	p.L145L	PKNOX2_uc010saz.1_Silent_p.L116L|PKNOX2_uc010sba.1_Silent_p.L116L|PKNOX2_uc010sbb.1_Silent_p.L81L	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	145						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GAATCCACCTGCTGGAGCTGG	0.532		NA											8	74					0.000157383	0.00015945	1	0
HYLS1	219844	broad.mit.edu	37	11	125769334	125769334	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:125769334C>T	uc009zbv.2	+	4	605	c.71C>T	c.(70-72)GCT>GTT	p.A24V	HYLS1_uc001qcx.3_Missense_Mutation_p.A24V|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	24						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TTGGCAGCTGCTACAGCTTTT	0.473		NA											8	87					0	0	0	0
ETS1	2113	broad.mit.edu	37	11	128426323	128426323	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128426323C>T	uc001qej.2	-	3	162	c.77G>A	c.(76-78)GGA>GAA	p.G26E		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	Error:Variant_position_missing_in_P14921_after_alignment					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTTGCTAGGTCCTTGCCTCTG	0.393		NA											5	22					0	0	0	0
FLI1	2313	broad.mit.edu	37	11	128628073	128628073	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128628073C>T	uc010sbu.1	+	2	423	c.82C>T	c.(82-84)CAT>TAT	p.H28Y	FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_5'UTR|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_5'UTR	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	28					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGCGGCAGCCCATCTCCCCAA	0.622		NA	T	EWSR1	Ewing sarcoma								3	12					0	0	0	0
FLI1	2313	broad.mit.edu	37	11	128638162	128638162	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:128638162C>T	uc010sbu.1	+	3	721	c.380C>T	c.(379-381)CCC>CTC	p.P127L	FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.P94L|FLI1_uc009zci.2_Missense_Mutation_p.P61L|FLI1_uc001qen.2_Missense_Mutation_p.P94L	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	127	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GTCATCGTCCCCGCAGGTAAT	0.557		NA	T	EWSR1	Ewing sarcoma								6	28					0	0	0	0
PRDM10	56980	broad.mit.edu	37	11	129802048	129802048	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:129802048G>A	uc001qfm.2	-	10	1468	c.1236C>T	c.(1234-1236)ATC>ATT	p.I412I	PRDM10_uc001qfj.2_Silent_p.I326I|PRDM10_uc001qfk.2_Silent_p.I326I|PRDM10_uc001qfl.2_Silent_p.I326I|PRDM10_uc010sbx.1_Silent_p.I326I|PRDM10_uc001qfn.2_Silent_p.I412I|PRDM10_uc009zct.1_Silent_p.I444I	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTCCAGGCGGATAAATTTTG	0.577		NA											18	71					0	0	0	0
NTM	50863	broad.mit.edu	37	11	132016247	132016247	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132016247A>T	uc001qgp.2	+	2	903	c.239A>T	c.(238-240)GAC>GTC	p.D80V	NTM_uc001qgm.2_Missense_Mutation_p.D80V|NTM_uc010sch.1_Missense_Mutation_p.D71V|NTM_uc010sci.1_Missense_Mutation_p.D80V|NTM_uc010scj.1_Missense_Mutation_p.D39V|NTM_uc001qgo.2_Missense_Mutation_p.D80V|NTM_uc001qgq.2_Missense_Mutation_p.D80V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	80	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GCTGGGAATGACAAGTGGTGC	0.562		NA											7	76					0	0	0	0
OPCML	4978	broad.mit.edu	37	11	132306111	132306111	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:132306111C>T	uc001qgs.2	-	6	856	c.806G>A	c.(805-807)GGA>GAA	p.G269E	OPCML_uc001qgu.2_Missense_Mutation_p.G262E|OPCML_uc010sck.1_Missense_Mutation_p.G269E|OPCML_uc001qgt.2_Missense_Mutation_p.G268E|OPCML_uc010scl.1_Missense_Mutation_p.G228E	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AATCCTCATTCCATCCAGACC	0.438		NA											10	70					0	0	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244922	134244922	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:134244922C>T	uc001qhp.2	+	19	2069	c.1881C>T	c.(1879-1881)CCC>CCT	p.P627P	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	627					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGGAAACCCCCCACCTGGGCA	0.627		NA											7	16					0	0	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016673	2016673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2016673G>A	uc001qjp.2	-	6	945	c.714C>T	c.(712-714)TTC>TTT	p.F238F	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.F238F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	238	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGTCTCTCTGGAAGTTCTCCA	0.453		NA											4	23					0	0	0	0
CACNA1C	775	broad.mit.edu	37	12	2566793	2566793	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:2566793G>A	uc009zdu.1	+	5	991	c.678G>A	c.(676-678)GGG>GGA	p.G226G	CACNA1C_uc009zdv.1_Silent_p.G226G|CACNA1C_uc001qkb.2_Silent_p.G226G|CACNA1C_uc001qkc.2_Silent_p.G226G|CACNA1C_uc001qke.2_Silent_p.G226G|CACNA1C_uc001qkf.2_Silent_p.G226G|CACNA1C_uc001qjz.2_Silent_p.G226G|CACNA1C_uc001qkd.2_Silent_p.G226G|CACNA1C_uc001qkg.2_Silent_p.G226G|CACNA1C_uc009zdw.1_Silent_p.G226G|CACNA1C_uc001qkh.2_Silent_p.G226G|CACNA1C_uc001qkl.2_Silent_p.G226G|CACNA1C_uc001qkn.2_Silent_p.G226G|CACNA1C_uc001qko.2_Silent_p.G226G|CACNA1C_uc001qkp.2_Silent_p.G226G|CACNA1C_uc001qkr.2_Silent_p.G226G|CACNA1C_uc001qku.2_Silent_p.G226G|CACNA1C_uc001qkq.2_Silent_p.G226G|CACNA1C_uc001qks.2_Silent_p.G226G|CACNA1C_uc001qkt.2_Silent_p.G226G|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	226	Extracellular (Potential).|I.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCTCGGAGGGAAAGGGGCCG	0.557		NA											39	120					0	0	0	0
VWF	7450	broad.mit.edu	37	12	6122811	6122811	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6122811C>T	uc001qnn.1	-	32	5706	c.5456G>A	c.(5455-5457)AGA>AAA	p.R1819K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1819	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CACTGTCACTCCTAGAGTTAG	0.507		NA											17	47					0	0	0	0
CD4	920	broad.mit.edu	37	12	6909313	6909313	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6909313G>A	uc001qqv.1	+	2	254	c.9G>A	c.(7-9)CGG>CGA	p.R3R	CD4_uc009zez.1_Silent_p.R3R|CD4_uc009zfa.1_Intron|CD4_uc009zfb.1_Intron|CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	3					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				CAATGAACCGGGGAGTCCCTT	0.572		NA											28	33					0	0	0	0
USP5	8078	broad.mit.edu	37	12	6965611	6965611	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6965611C>T	uc001qri.3	+	5	640	c.581C>T	c.(580-582)CCC>CTC	p.P194L	USP5_uc001qrh.3_Missense_Mutation_p.P194L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						CGAATCCCTCCCTGGTGAGGC	0.627		NA											11	66					0	0	0	0
USP5	8078	broad.mit.edu	37	12	6973918	6973918	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:6973918C>T	uc001qri.3	+	18	2336	c.2277C>T	c.(2275-2277)ATC>ATT	p.I759I	USP5_uc001qrh.3_Silent_p.I736I|TPI1_uc001qrk.2_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	759	UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						TGGACTGGATCTTCAGTCACA	0.413		NA											22	60					0	0	0	0
C1S	716	broad.mit.edu	37	12	7171649	7171649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7171649C>T	uc001qsj.2	+	8	1189	c.470C>T	c.(469-471)TCC>TTC	p.S157F	C1S_uc001qsk.2_Missense_Mutation_p.S157F|C1S_uc001qsl.2_Missense_Mutation_p.S157F|C1S_uc009zfr.2_5'UTR|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	157	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TACTTCTGCTCCTGCCCCCCG	0.453		NA											61	116					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7527338	7527338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7527338G>A	uc001qsy.2	-	13	3135	c.3109C>T	c.(3109-3111)CGC>TGC	p.R1037C	CD163L1_uc010sge.1_Missense_Mutation_p.R1047C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1037	SRCR 10.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TCCACTAGGCGGAGCCGTTTG	0.517		NA									OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	41					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7647932	7647932	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:7647932C>T	uc001qsz.3	-	6	1293	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	CD163_uc001qta.3_Missense_Mutation_p.E389K|CD163_uc009zfw.2_Missense_Mutation_p.E389K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	389	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CTCTGAATCTCCACCTCAACT	0.493		NA											19	101					0	0	0	0
C3AR1	719	broad.mit.edu	37	12	8212050	8212050	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8212050C>T	uc001qtv.1	-	2	824	c.732G>A	c.(730-732)AGG>AGA	p.R244R		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	244	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		TAGCAGAACCCCTAGGGAGTG	0.418		NA											18	76					0	0	0	0
NECAP1	25977	broad.mit.edu	37	12	8244401	8244402	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8244401_8244402GG>AA	uc001qtx.2	+	4	416_417	c.338_339GG>AA	c.(337-339)CGG>CAA	p.R113Q	NECAP1_uc001qty.2_Intron	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	113					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		TTCACAGATCGGGGAGATGCCT	0.431		NA											6	28					0	0	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376723	8376723	+	Missense_Mutation	SNP	G	G	C	rs117679735	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:8376723G>C	uc001qui.2	-	5	771	c.212C>G	c.(211-213)CCG>CGG	p.P71R	FAM90A1_uc001quh.2_Missense_Mutation_p.P71R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	71							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		CCCAAAGTTCGGTGGAACCAG	0.547		NA											26	184					0	0	0	0
STYK1	55359	broad.mit.edu	37	12	10772810	10772810	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10772810G>A	uc001qys.2	-	11	1723	c.1202C>T	c.(1201-1203)CCT>CTT	p.P401L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	401						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						ATACAGTTCAGGTACCACCAA	0.517		NA								HNSCC(73;0.22)			46	232					0	0	0	0
STYK1	55359	broad.mit.edu	37	12	10774549	10774549	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:10774549G>A	uc001qys.2	-	10	1511	c.990C>T	c.(988-990)GTC>GTT	p.V330V		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	330	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						TGGTAGGAGGGACTTCAGGAT	0.423		NA								HNSCC(73;0.22)			14	109					0	0	0	0
PRH1	5554	broad.mit.edu	37	12	11034878	11034878	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11034878C>T	uc001qzc.2	-	8	1045	c.457G>A	c.(457-459)GGG>AGG	p.G153R	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space	protein binding				0				BRCA - Breast invasive adenocarcinoma(232;0.245)		GGGCGGCCCCCTTGGGGAGGT	0.582		NA											10	176					0	0	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061286	11061286	+	Silent	SNP	G	G	A	rs140528790		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11061286G>A	uc001qzg.1	-	1	876	c.612C>T	c.(610-612)TCC>TCT	p.S204S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	204	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity	p.S204S(1)		breast(1)|skin(1)	2						GTTTCTGCAGGGAGAAAATTA	0.398		NA											31	69					0	0	0	0
PRB3	5544	broad.mit.edu	37	12	11420677	11420678	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11420677_11420678CC>TT	uc001qzs.2	-	3	543_544	c.505_506GG>AA	c.(505-507)GGA>AAA	p.G169K	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	169	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|6.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGGT	0.649		NA											41	266					0	0	0	0
PRB4	5545	broad.mit.edu	37	12	11461790	11461790	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11461790C>T	uc001qzf.1	-	3	161	c.127G>A	c.(127-129)GGA>AGA	p.G43R	PRB4_uc001qzt.2_Missense_Mutation_p.G43R	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	43	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1.					extracellular region				ovary(1)	1						TGGTTTCCTCCTTGTGGGCGT	0.567		NA								HNSCC(22;0.051)			56	392					0	0	0	0
PRB2	653247	broad.mit.edu	37	12	11546792	11546792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:11546792G>A	uc010shk.1	-	3	255	c.220C>T	c.(220-222)CCT>TCT	p.P74S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGA	0.602		NA											71	362					0	0	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224269	13224269	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13224269C>T	uc001rbi.2	+	10	1486	c.1463C>T	c.(1462-1464)TCA>TTA	p.S488L	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	488						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCAGTTACTTCAGACCAGAAG	0.517		NA											62	54					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716871	13716871	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13716871C>T	uc001rbt.2	-	13	3480	c.3301G>A	c.(3301-3303)GAG>AAG	p.E1101K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1101	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGTCAAACTCCCTGCGGGAC	0.612		NA											35	33					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768162	13768162	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:13768162T>G	uc001rbt.2	-	7	1719	c.1540A>C	c.(1540-1542)ACC>CCC	p.T514P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	514	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATTGATGGTGAGTGAGCCC	0.532		NA											10	66					0	0	0	0
EPS8	2059	broad.mit.edu	37	12	15834210	15834210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:15834210G>A	uc009zif.2	-	3	180	c.86C>T	c.(85-87)TCC>TTC	p.S29F	EPS8_uc001rdb.2_Missense_Mutation_p.S29F|EPS8_uc009zig.2_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	29					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTCCGTCTGGGAAAAGGTAGG	0.313		NA											25	123					0	0	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876368	18876368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:18876368C>T	uc010sid.1	-	4	435	c.244G>A	c.(244-246)GAA>AAA	p.E82K	PLCZ1_uc001rdv.3_5'UTR|PLCZ1_uc001rdw.3_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	82					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCGGTTTTCAGAATATGTG	0.343		NA											12	67					0	0	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19427805	19427805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:19427805G>A	uc001reb.2	+	10	1269	c.1183G>A	c.(1183-1185)GGG>AGG	p.G395R	PLEKHA5_uc010sie.1_Missense_Mutation_p.G401R|PLEKHA5_uc001rea.2_Missense_Mutation_p.G395R|PLEKHA5_uc009zin.2_Missense_Mutation_p.G153R|PLEKHA5_uc010sif.1_Missense_Mutation_p.G287R|PLEKHA5_uc010sig.1_Missense_Mutation_p.G287R|PLEKHA5_uc010sih.1_Missense_Mutation_p.G287R|PLEKHA5_uc001rec.1_Missense_Mutation_p.G83R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	395							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCCCAATACAGGGCCCTTATA	0.458		NA											17	71					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20766428	20766428	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:20766428G>A	uc001reh.1	+	3	1085	c.1063G>A	c.(1063-1065)GGC>AGC	p.G355S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	355				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	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)	CGAGGCCCACGGCCTCATTAC	0.537		NA											10	91					0	0	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015719	21015719	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21015719C>T	uc001rek.2	+	7	784	c.658C>T	c.(658-660)CCA>TCA	p.P220S	SLCO1B3_uc001rel.2_Missense_Mutation_p.P220S|SLCO1B3_uc010sil.1_Missense_Mutation_p.P220S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.P45S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	220	Helical; Name=5; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					AATGATTGGTCCAGTCATTGG	0.333		NA											9	86					0	0	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325692	21325692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21325692C>T	uc001req.3	+	3	297	c.193C>T	c.(193-195)CTT>TTT	p.L65F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	65	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATCCTCTTCTCTTGTTGGTTT	0.313		NA											26	38					0	0	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453381	21453381	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21453381G>A	uc001rer.2	-	7	1062	c.811C>T	c.(811-813)CCA>TCA	p.P271S	SLCO1A2_uc001res.2_Missense_Mutation_p.P271S|SLCO1A2_uc010siq.1_Missense_Mutation_p.P139S|SLCO1A2_uc010sio.1_Missense_Mutation_p.P139S|SLCO1A2_uc010sip.1_Missense_Mutation_p.P139S|SLCO1A2_uc001ret.2_Missense_Mutation_p.P269S|SLCO1A2_uc001reu.2_Missense_Mutation_p.P251S	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	271	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CCTTCCTTTGGAAGTGTGTTG	0.403		NA											10	61					0	0	0	0
ABCC9	10060	broad.mit.edu	37	12	21968824	21968824	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:21968824G>A	uc001rfi.1	-	32	3916	c.3896C>T	c.(3895-3897)CCT>CTT	p.P1299L	ABCC9_uc001rfh.2_Missense_Mutation_p.P1299L|ABCC9_uc001rfj.1_Missense_Mutation_p.P1263L	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1299	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AACTTGAGAAGGATCTGGAGG	0.333		NA											12	52					0	0	0	0
ABCC9	10060	broad.mit.edu	37	12	22005385	22005385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:22005385C>T	uc001rfi.1	-	21	2580	c.2560G>A	c.(2560-2562)GGG>AGG	p.G854R	ABCC9_uc001rfh.2_Missense_Mutation_p.G854R|ABCC9_uc001rfj.1_Missense_Mutation_p.G818R	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	854	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCAAAATCCCCTCCTGCATT	0.413		NA											41	40					0	0	0	0
ITPR2	3709	broad.mit.edu	37	12	26784938	26784938	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:26784938A>C	uc001rhg.2	-	22	3212	c.2795T>G	c.(2794-2796)GTA>GGA	p.V932G		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	932	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TCTACTGAGTACCATCTGGGT	0.552		NA											17	119					0	0	0	0
KIF21A	55605	broad.mit.edu	37	12	39696913	39696913	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39696913G>A	uc001rly.2	-	36	4731	c.4585C>T	c.(4585-4587)CTT>TTT	p.L1529F	KIF21A_uc001rlv.2_Missense_Mutation_p.L474F|KIF21A_uc001rlw.2_Missense_Mutation_p.L799F|KIF21A_uc001rlx.2_Missense_Mutation_p.L1516F|KIF21A_uc001rlz.2_Missense_Mutation_p.L1476F|KIF21A_uc010skl.1_Missense_Mutation_p.L1492F|KIF21A_uc001rlt.2_Missense_Mutation_p.L149F|KIF21A_uc001rlu.2_Missense_Mutation_p.L149F	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1529	WD 4.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				ACAGTCCCAAGAGCTCCTTCT	0.388		NA											21	48					0	0	0	0
KIF21A	55605	broad.mit.edu	37	12	39726014	39726014	+	Splice_Site	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39726014A>G	uc001rly.2	-	21	3197	c.3051_splice	c.e21+1	p.K1017_splice	KIF21A_uc001rlv.2_Intron|KIF21A_uc001rlw.2_Splice_Site_p.K334_splice|KIF21A_uc001rlx.2_Splice_Site_p.K1004_splice|KIF21A_uc001rlz.2_Splice_Site_p.K981_splice|KIF21A_uc010skl.1_Splice_Site_p.K1004_splice	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAATTACAAACCTTTGCTTC	0.308		NA											41	77					0	0	0	0
ABCD2	225	broad.mit.edu	37	12	39973417	39973417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:39973417C>T	uc001rmb.2	-	8	2223	c.1797G>A	c.(1795-1797)TGG>TGA	p.W599*		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	599	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TAACAGCATCCCATCCTTAAG	0.318		NA											25	95					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40714868	40714868	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40714868C>T	uc001rmg.3	+	35	5169	c.5048C>T	c.(5047-5049)CCC>CTC	p.P1683L	LRRK2_uc009zjw.2_Missense_Mutation_p.P521L|LRRK2_uc001rmi.2_Missense_Mutation_p.P516L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1683					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATAGAGCTTCCCCATTGTGAG	0.383		NA											25	128					0	0	0	0
LRRK2	120892	broad.mit.edu	37	12	40758754	40758754	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:40758754G>A	uc001rmg.3	+	49	7413	c.7292G>A	c.(7291-7293)GGA>GAA	p.G2431E	LRRK2_uc009zjw.2_Missense_Mutation_p.G1269E|LRRK2_uc001rmi.2_Missense_Mutation_p.G1264E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2431					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAACTGGAGGAGGCCATATT	0.408		NA									OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	74					0	0	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967305	41967305	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:41967305C>T	uc010skn.1	+	10	2195	c.2127C>T	c.(2125-2127)GAC>GAT	p.D709D	PDZRN4_uc001rmq.3_Silent_p.D650D|PDZRN4_uc009zjz.2_Silent_p.D648D|PDZRN4_uc001rmr.2_Silent_p.D535D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	908							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCGTGCGAGACCGAATCCTGA	0.517		NA											11	73					0	0	0	0
PUS7L	83448	broad.mit.edu	37	12	44148206	44148206	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:44148206C>T	uc001rnq.3	-	2	1332	c.843G>A	c.(841-843)CGG>CGA	p.R281R	PUS7L_uc001rnr.3_Silent_p.R281R|PUS7L_uc001rns.3_Silent_p.R281R|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	281					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTGCTTTTTCCCGAAATCTTA	0.353		NA											71	142					0	0	0	0
SLC38A2	54407	broad.mit.edu	37	12	46761092	46761092	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:46761092G>A	uc001rpg.2	-	5	786	c.346C>T	c.(346-348)CTG>TTG	p.L116L	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.L16L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	116	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGAATACAGGGAAAATATT	0.333		NA											26	182					0	0	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181734	47181734	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:47181734G>A	uc001rpi.2	-	5	690	c.291C>T	c.(289-291)TCC>TCT	p.S97S	SLC38A4_uc001rpj.2_Silent_p.S97S|SLC38A4_uc009zkl.2_Silent_p.S97S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	97	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CCATGGCATAGGACAAGCCCA	0.428		NA											34	57					0	0	0	0
COL2A1	1280	broad.mit.edu	37	12	48383559	48383559	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48383559G>A	uc001rqu.2	-	17	1234	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G	COL2A1_uc009zkw.2_5'Flank|COL2A1_uc001rqv.2_Silent_p.G282G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	351	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCCTGCGGGGCCTGGCTGAC	0.597		NA											29	76					0	0	0	0
ASB8	140461	broad.mit.edu	37	12	48543601	48543601	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:48543601C>T	uc001rrh.2	-	4	584	c.415G>A	c.(415-417)GAG>AAG	p.E139K	ASB8_uc010slr.1_Missense_Mutation_p.E135K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	139	ANK 3.				intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						GCCCCGCTCTCTAGGAGAGCC	0.527		NA											14	80					0	0	0	0
CCDC65	85478	broad.mit.edu	37	12	49312668	49312668	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49312668G>A	uc001rso.2	+	6	1235	c.1008G>A	c.(1006-1008)CTG>CTA	p.L336L		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	336										ovary(1)|skin(1)	2						TCAAGGCCCTGAGAAAGATTG	0.488		NA											10	39					0	0	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523492	49523492	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49523492G>A	uc001rtm.2	-	2	238	c.17C>T	c.(16-18)TCC>TTC	p.S6F	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_5'UTR|TUBA1B_uc001rtl.2_5'UTR|TUBA1B_uc001rtn.2_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	6					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						AACGTGGATGGAGATGCACTC	0.483		NA											13	62					0	0	0	0
TROAP	10024	broad.mit.edu	37	12	49719907	49719907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49719907C>T	uc001rtx.3	+	6	849	c.682C>T	c.(682-684)CAG>TAG	p.Q228*	TROAP_uc009zlh.2_Nonsense_Mutation_p.Q228*|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	228					cell adhesion	cytoplasm				ovary(1)	1						CCCCAGTTTCCAGGAGCTAAG	0.527		NA											31	131					0	0	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743028	49743028	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:49743028G>A	uc001rua.2	+	2	774	c.373G>A	c.(373-375)GGC>AGC	p.G125S	DNAJC22_uc001rub.2_Missense_Mutation_p.G125S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	125	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						GGCTGCTGTTGGCAACCAGAC	0.527		NA											28	168					0	0	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189930	50189931	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50189930_50189931GG>AA	uc009zlk.2	-	8	1914_1915	c.1712_1713CC>TT	c.(1711-1713)TCC>TTT	p.S571F	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Missense_Mutation_p.S164F	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	567	Pro-rich.									central_nervous_system(1)	1						GTGGCTCTGGGGAAGGCCCCCT	0.624		NA											10	34					0	0	0	0
RACGAP1	29127	broad.mit.edu	37	12	50400385	50400385	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50400385G>A	uc001rvt.2	-	5	430	c.120C>T	c.(118-120)TTC>TTT	p.F40F	RACGAP1_uc009zlm.1_Silent_p.F40F|RACGAP1_uc001rvs.2_Silent_p.F40F|RACGAP1_uc001rvu.2_Silent_p.F40F	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	40					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						ACTTTTTACGGAAATCCTCAA	0.423		NA											23	31					0	0	0	0
SMARCD1	6602	broad.mit.edu	37	12	50483706	50483706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:50483706C>T	uc001rvx.3	+	7	981	c.811C>T	c.(811-813)CAG>TAG	p.Q271*	SMARCD1_uc001rvy.3_Nonsense_Mutation_p.Q271*|SMARCD1_uc009zlp.2_Nonsense_Mutation_p.Q230*	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	271	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						CGATGGCTTTCAGGTGAAGCG	0.582		NA											13	58					0	0	0	0
KRT7	3855	broad.mit.edu	37	12	52639266	52639267	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:52639266_52639267CC>TT	uc001saa.1	+	7	1182_1183	c.1055_1056CC>TT	c.(1054-1056)GCC>GTT	p.A352V	KRT7_uc009zmf.1_Intron	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	352	Rod.|Coil 2.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)		GATGCTCGTGCCAAGCAGGAGG	0.653		NA											9	59					0	0	0	0
KRT3	3850	broad.mit.edu	37	12	53187989	53187989	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53187989G>A	uc001say.2	-	2	838	c.772C>T	c.(772-774)CTG>TTG	p.L258L		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	258	Rod.|Coil 1B.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						TAGCTCCGCAGGTAGTTGATG	0.532		NA											25	174					0	0	0	0
ITGB7	3695	broad.mit.edu	37	12	53589185	53589185	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:53589185C>T	uc009zmv.2	-	8	1205	c.1134G>A	c.(1132-1134)GTG>GTA	p.V378V	ITGB7_uc001scc.2_Silent_p.V378V|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	378	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						TGAGCTGTACCACGTTGCTGG	0.552		NA											11	74					0	0	0	0
GPR84	53831	broad.mit.edu	37	12	54757158	54757158	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54757158T>C	uc001sfu.2	-	2	568	c.478A>G	c.(478-480)ATC>GTC	p.I160V		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	160	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						GGTACCAGGATATAAATAGGC	0.567		NA											3	31					0	0	0	0
GTSF1	121355	broad.mit.edu	37	12	54857043	54857044	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54857043_54857044GG>AA	uc001sgb.2	-	4	241_242	c.155_156CC>TT	c.(154-156)CCC>CTT	p.P52L		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	52							metal ion binding				0		Myeloproliferative disorder(1001;0.00452)				GAGCATTGAAGGGACAAGTAGC	0.426		NA											13	89					0	0	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936457	54936457	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54936457C>T	uc001sgc.3	+	31	3451	c.3372C>T	c.(3370-3372)TTC>TTT	p.F1124F	NCKAP1L_uc010sox.1_Silent_p.F666F|NCKAP1L_uc010soy.1_Silent_p.F1074F	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1124					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CTCGGGCCTTCCACCTAAACT	0.557		NA											13	81					0	0	0	0
PDE1B	5153	broad.mit.edu	37	12	54969816	54969816	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:54969816G>T	uc001sgd.1	+	13	1474	c.1308G>T	c.(1306-1308)CTG>CTT	p.L436L	PDE1B_uc010soz.1_Silent_p.L299L|PDE1B_uc010spa.1_Silent_p.L395L|PDE1B_uc001sgf.2_Silent_p.L299L|PDE1B_uc001sge.2_Silent_p.L416L|PDE1B_uc009znq.2_Silent_p.L232L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	436	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCTCTGTGCTGACTGACGTGG	0.542		NA											28	111					1.56e-20	1.62e-20	1	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55688295G>A	uc010sph.1	-	1	722	c.722C>T	c.(721-723)TCC>TTC	p.S241F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2						AATCATGTGGGAAGTACAGGT	0.378		NA											13	64					0	0	0	0
OR6C2	341416	broad.mit.edu	37	12	55846439	55846439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:55846439G>A	uc001sgz.1	+	1	442	c.442G>A	c.(442-444)GTG>ATG	p.V148M		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						CTGCTGTTGGGTGGCTGGCTT	0.473		NA											54	92					0	0	0	0
OR10P1	121130	broad.mit.edu	37	12	56031407	56031407	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56031407C>T	uc010spq.1	+	1	732	c.732C>T	c.(730-732)TCC>TCT	p.S244S		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CCTGCTCCTCCCATCTGCTCG	0.587		NA											21	120					0	0	0	0
METTL7B	196410	broad.mit.edu	37	12	56077597	56077598	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56077597_56077598GG>AA	uc010spr.1	+	2	708_709	c.499_500GG>AA	c.(499-501)GGA>AAA	p.G167K		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	methyltransferase like 7B precursor	167							methyltransferase activity				0						TCCCTCCCAGGGAGGTGTGCTC	0.525		NA											11	77					0	0	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56109967	56109967	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56109967C>T	uc009zny.1	+	1	148	c.132C>T	c.(130-132)CGC>CGT	p.R44R	BLOC1S1_uc001shi.2_Silent_p.R16R|BLOC1S1_uc001shj.3_Silent_p.R44R			P78537	BL1S1_HUMAN	RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;          Short=BLOC-1 subunit 1; AltName: Full=GCN5-like protein 1; AltName: Full=Protein RT14;	44	Potential.				cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding				0						AGAATGAACGCAAGGAGCTGC	0.622		NA											4	12					0	0	0	0
DNAJC14	85406	broad.mit.edu	37	12	56216453	56216453	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56216453A>G	uc001shx.1	-	5	1902	c.1698T>C	c.(1696-1698)CAT>CAC	p.H566H	DNAJC14_uc001shu.1_Silent_p.H566H|DNAJC14_uc009zob.1_Silent_p.H566H	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	566					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						CCTCAGCAGGATGCAGCCTAT	0.458		NA											26	118					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56487254	56487254	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56487254C>T	uc001sjh.2	+	12	1593	c.1400C>T	c.(1399-1401)TCT>TTT	p.S467F	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.S408F|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.S35F	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	467	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACCACCACTCTTTGAACTGG	0.522		NA											37	71					0	0	0	0
PA2G4	5036	broad.mit.edu	37	12	56504217	56504217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56504217G>T	uc001sjm.2	+	8	1083	c.664G>T	c.(664-666)GAA>TAA	p.E222*	PA2G4_uc009zol.2_Nonsense_Mutation_p.E222*|PA2G4_uc009zom.2_Nonsense_Mutation_p.E222*	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	ErbB3-binding protein 1	222					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGAGGTACATGAAGTATATGC	0.368		NA											15	75					8.6e-14	8.89e-14	1	0
OBFC2B	79035	broad.mit.edu	37	12	56622940	56622941	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56622940_56622941CC>TT	uc001ski.2	+	7	703_704	c.579_580CC>TT	c.(577-582)GGCCCT>GGTTCT	p.P194S	OBFC2B_uc001skk.2_Missense_Mutation_p.P219S|OBFC2B_uc001skj.2_Missense_Mutation_p.P210S	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	194	Pro-rich.				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						GCCCGCCTGGCCCTTCCAGCAA	0.599		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					17	86					0	0	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:56638205G>A	uc001skm.3	-	25	2827	c.2737C>T	c.(2737-2739)CGA>TGA	p.R913*		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913	ANK 26.						protein binding			ovary(2)	2						GCCTTCCCTCGATACAGCAGA	0.517		NA											24	32					0	0	0	0
BAZ2A	11176	broad.mit.edu	37	12	57003658	57003658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57003658G>A	uc001slq.1	-	10	2154	c.1960C>T	c.(1960-1962)CGA>TGA	p.R654*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.R652*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.R622*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	654	A.T hook 1.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TTTCGAGGTCGACCCCGTTTG	0.527		NA											8	28					0	0	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324258	57324258	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57324258G>A	uc010sqw.1	-	2	312	c.312C>T	c.(310-312)GCC>GCT	p.A104A		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	104						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						TGTTCACCAGGGCCCAGAGGC	0.562		NA											12	34					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57554760	57554760	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57554760C>T	uc001snd.2	+	13	2530	c.2064C>T	c.(2062-2064)CAC>CAT	p.H688H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	688	LDL-receptor class B 6.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATGGCTCACACCGAGACATCT	0.622		NA											21	135					0	0	0	0
LRP1	4035	broad.mit.edu	37	12	57569840	57569840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57569840C>T	uc001snd.2	+	24	4408	c.3942C>T	c.(3940-3942)ACC>ACT	p.T1314T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1314	LDL-receptor class B 8.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTGGACCGACGTGGTGG	0.632		NA									OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	91					0	0	0	0
MBD6	114785	broad.mit.edu	37	12	57919368	57919369	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:57919368_57919369GG>AA	uc001soj.1	+	6	841_842	c.617_618GG>AA	c.(616-618)AGG>AAA	p.R206K	MBD6_uc001sok.1_Missense_Mutation_p.R73K|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	206	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						TTCCTCCCAAGGGGCAATGCCC	0.644		NA											28	89					0	0	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020705	58020705	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58020705G>A	uc001spg.1	-	11	1856	c.1424C>T	c.(1423-1425)TCC>TTC	p.S475F	B4GALNT1_uc010sru.1_Missense_Mutation_p.S420F	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	475	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTCGGAGCAGGAGCCAACCCG	0.582		NA											7	27					0	0	0	0
CTDSP2	10106	broad.mit.edu	37	12	58220853	58220853	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:58220853C>A	uc001sqm.2	-	4	809	c.280G>T	c.(280-282)GTG>TTG	p.V94L	CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	94					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCTCTGTCACCTCTGGGAGC	0.493		NA											34	70					2.2e-14	2.28e-14	1	0
LRIG3	121227	broad.mit.edu	37	12	59270358	59270358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:59270358G>A	uc001sqr.2	-	16	2810	c.2564C>T	c.(2563-2565)CCT>CTT	p.P855L	LRIG3_uc009zqh.2_Missense_Mutation_p.P795L|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	855						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATAACTAGGAATATCTGC	0.458		NA											9	37					0	0	0	0
USP15	9958	broad.mit.edu	37	12	62784990	62784991	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:62784990_62784991CC>TT	uc001src.1	+	16	2023_2024	c.2014_2015CC>TT	c.(2014-2016)CCC>TTC	p.P672F	USP15_uc001srb.1_Missense_Mutation_p.P643F	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	672					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAGAACTTCCCTCAGAGAAT	0.371		NA											7	49					0	0	0	0
TMEM5	10329	broad.mit.edu	37	12	64173779	64173779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:64173779C>T	uc001srq.1	+	1	143	c.39C>T	c.(37-39)ATC>ATT	p.I13I	TMEM5_uc001srr.1_5'UTR|TMEM5_uc001srs.1_5'Flank	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	13	Helical; Signal-anchor for type II membrane protein; (Potential).					integral to plasma membrane					0		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CGTTTCTTATCGCCCTGTACT	0.488		NA											22	25					0	0	0	0
LEMD3	23592	broad.mit.edu	37	12	65640076	65640076	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:65640076G>T	uc001ssl.1	+	13	2713	c.2707G>T	c.(2707-2709)GGC>TGC	p.G903C	LEMD3_uc009zqo.1_Missense_Mutation_p.G902C	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	903	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTCGGACTGGCCTAACCAA	0.398		NA											18	100					6.94e-10	7.14e-10	1	0
CPM	1368	broad.mit.edu	37	12	69264150	69264150	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:69264150C>T	uc001sup.2	-	5	522	c.461G>A	c.(460-462)CGA>CAA	p.R154Q	CPM_uc001sur.2_Missense_Mutation_p.R154Q|CPM_uc001suq.2_Missense_Mutation_p.R154Q	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	154					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGGGAAATTTCGATTCAAGTC	0.403		NA											13	91					0	0	0	0
LRRC10	376132	broad.mit.edu	37	12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70004462C>T	uc001svc.2	-	1	481	c.157G>A	c.(157-159)GAG>AAG	p.E53K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53	LRR 1.					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)			TTGACCAGCTCCCTGAAGGAG	0.582		NA											12	40					0	0	0	0
PTPRB	5787	broad.mit.edu	37	12	70918333	70918333	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:70918333G>A	uc001swb.3	-	31	5919	c.5889C>T	c.(5887-5889)GTC>GTT	p.V1963V	uc001svz.2_Intron|PTPRB_uc010sto.1_Silent_p.V1873V|PTPRB_uc010stp.1_Silent_p.V1873V|PTPRB_uc001swc.3_Silent_p.V2181V|PTPRB_uc001swa.3_Silent_p.V2093V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGCTCTGAGGACATCTCTTA	0.428		NA											6	65					0	0	0	0
KCNC2	3747	broad.mit.edu	37	12	75601548	75601548	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:75601548G>A	uc001sxg.1	-	2	760	c.216C>T	c.(214-216)CCC>CCT	p.P72P	KCNC2_uc009zry.2_Silent_p.P72P|KCNC2_uc001sxe.2_Silent_p.P72P|KCNC2_uc001sxf.2_Silent_p.P72P|KCNC2_uc010stw.1_Silent_p.P72P	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	72	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						CGCCTGGCCCGggggacagcg	0.532		NA											2	0					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78553043	78553043	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:78553043C>T	uc001syp.2	+	23	5019	c.4846C>T	c.(4846-4848)CTA>TTA	p.L1616L	NAV3_uc001syo.2_Silent_p.L1616L|NAV3_uc010sub.1_Silent_p.L1102L|NAV3_uc009zsf.2_Silent_p.L447L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1616	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ATTGCAAAGTCTAACTATGAC	0.393		NA								HNSCC(70;0.22)			6	51					0	0	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747119	81747119	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:81747119C>T	uc001szo.1	-	17	1935	c.1774_splice	c.e17-1	p.V592_splice	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6						GAGATTTCACCTGAATGGTGA	0.373		NA											15	40					0	0	0	0
TSPAN19	144448	broad.mit.edu	37	12	85413439	85413439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85413439G>A	uc009zsj.2	-	6	517	c.416C>T	c.(415-417)ACC>ATC	p.T139I		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						AGTCCACTTGGTTATATCTTC	0.328		NA											35	133					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85515605	85515605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85515605C>T	uc001tac.2	+	16	3619	c.3508C>T	c.(3508-3510)CAG>TAG	p.Q1170*	LRRIQ1_uc001tab.1_Nonsense_Mutation_p.Q1170*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1170										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTGTCAGTCTCAGATTCGAGA	0.353		NA											14	52					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518236	85518236	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:85518236G>A	uc001tac.2	+	17	4057	c.3946G>A	c.(3946-3948)GAA>AAA	p.E1316K	LRRIQ1_uc001tab.1_Missense_Mutation_p.E1316K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1316										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CCCATTTAAGGAAGTAGTAAT	0.323		NA											119	250					0	0	0	0
CEP290	80184	broad.mit.edu	37	12	88454692	88454692	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88454692C>T	uc001tar.2	-	47	6781	c.6437G>A	c.(6436-6438)AGA>AAA	p.R2146K	CEP290_uc001taq.2_Missense_Mutation_p.R1206K	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2146	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TTCATTTTCTCTCTGGACTTT	0.299		NA											4	14					0	0	0	0
TMTC3	160418	broad.mit.edu	37	12	88586521	88586522	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:88586521_88586522CC>TT	uc001tau.2	+	13	2067_2068	c.1847_1848CC>TT	c.(1846-1848)GCC>GTT	p.A616V		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	616	TPR 6.					integral to membrane	binding			skin(1)	1						CCAAATGAAGCCCTAAAAAACT	0.342		NA											28	75					0	0	0	0
KERA	11081	broad.mit.edu	37	12	91449634	91449634	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:91449634C>T	uc001tbl.2	-	2	1044	c.425G>A	c.(424-426)AGA>AAA	p.R142K		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	142	LRR 3.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						TTCTAAACTTCTTGGCAATGG	0.418		NA											45	103					0	0	0	0
C12orf74	338809	broad.mit.edu	37	12	93100531	93100531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93100531C>T	uc001tch.1	+	2	354	c.124C>T	c.(124-126)CCA>TCA	p.P42S	C12orf74_uc001tci.2_Missense_Mutation_p.P42S	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	42											0						CCGGCAAGCCCCAGGCCGCAT	0.642		NA											7	70					0	0	0	0
EEA1	8411	broad.mit.edu	37	12	93285445	93285445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:93285445G>A	uc001tck.2	-	2	342	c.77C>T	c.(76-78)CCT>CTT	p.P26L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	26					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						TGTGTTTATAGGAGTTGCTGA	0.358		NA											55	130					0	0	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613811	94613811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94613811G>A	uc001tdc.2	+	6	1823	c.1574G>A	c.(1573-1575)GGA>GAA	p.G525E		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	525	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						ACTATGGTGGGAAGCTTCTCT	0.478		NA											43	210					0	0	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642126	94642126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:94642126C>T	uc001tdc.2	+	14	2965	c.2716C>T	c.(2716-2718)CTT>TTT	p.L906F		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	906	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						TACCACCATCCTTTGCAAAAT	0.393		NA											19	82					0	0	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223030	99223030	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99223030C>T	uc001tge.1	-	19	3405	c.2988G>A	c.(2986-2988)CAG>CAA	p.Q996Q	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Silent_p.Q293Q|ANKS1B_uc010svd.1_Silent_p.Q2Q|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Silent_p.Q2Q|ANKS1B_uc001tgh.3_Silent_p.Q2Q|ANKS1B_uc001tgi.2_Silent_p.Q222Q|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_Silent_p.Q2Q|ANKS1B_uc010svf.1_Silent_p.Q2Q|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Silent_p.Q222Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	996						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGCATCGCCCTGCATGATAA	0.468		NA											41	221					0	0	0	0
SPIC	121599	broad.mit.edu	37	12	101873414	101873415	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:101873414_101873415CC>TT	uc001tid.2	+	4	311_312	c.152_153CC>TT	c.(151-153)TCC>TTT	p.S51F	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.S50F	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AAAGGAAATTCCAGCTGCTATG	0.356		NA											9	56					0	0	0	0
PAH	5053	broad.mit.edu	37	12	103246621	103246621	+	Missense_Mutation	SNP	C	C	T	rs62507286		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:103246621C>T	uc001tjq.1	-	8	1286	c.814G>A	c.(814-816)GGA>AGA	p.G272R		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	272					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGCTTGGATCCATGTCTGATG	0.562		NA											51	87					0	0	0	0
TXNRD1	7296	broad.mit.edu	37	12	104645324	104645324	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:104645324T>A	uc010swk.1	+	2	133	c.111T>A	c.(109-111)GGT>GGA	p.G37G	TXNRD1_uc001tkm.1_Silent_p.G40G	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	37					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						ATCACCCTGGTAAAACTTTGC	0.433		NA											10	31					0	0	0	0
POLR3B	55703	broad.mit.edu	37	12	106826181	106826181	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:106826181A>G	uc001tlp.2	+	15	1772	c.1550A>G	c.(1549-1551)AAC>AGC	p.N517S	POLR3B_uc001tlq.2_Missense_Mutation_p.N459S	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	517					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTAGCCAGTAACTTGGGAGTA	0.368		NA											68	105					0	0	0	0
ASCL4	121549	broad.mit.edu	37	12	108169094	108169094	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108169094G>A	uc001tmr.2	+	1	933	c.102G>A	c.(100-102)AGG>AGA	p.R34R		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	33					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						TCCCGCGGAGGGACCCCCTCA	0.731		NA											8	51					0	0	0	0
WSCD2	9671	broad.mit.edu	37	12	108589835	108589835	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:108589835T>A	uc001tms.2	+	2	970	c.226T>A	c.(226-228)TTC>ATC	p.F76I	WSCD2_uc001tmt.2_Missense_Mutation_p.F76I	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	76						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GGGCAGAGGTTTCCGGGACAC	0.622		NA											37	179					0	0	0	0
SSH1	54434	broad.mit.edu	37	12	109182304	109182304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109182304G>A	uc001tnm.2	-	15	2697	c.2610C>T	c.(2608-2610)CCC>CCT	p.P870P	SSH1_uc001tnl.2_Silent_p.P558P	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	870					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						GCATAACCAGGGGGCCCAGCT	0.667		NA											5	37					0	0	0	0
DAO	1610	broad.mit.edu	37	12	109290808	109290808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109290808C>T	uc001tnr.3	+	8	792	c.639C>T	c.(637-639)TTC>TTT	p.F213F	DAO_uc001tnq.3_Silent_p.F147F|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_Intron	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	213					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						TGAAGCACTTCATTCTCACCC	0.547		NA											20	88					0	0	0	0
USP30	84749	broad.mit.edu	37	12	109522852	109522852	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:109522852C>T	uc010sxi.1	+	12	1367	c.1263C>T	c.(1261-1263)TTC>TTT	p.F421F	USP30_uc001tnu.3_Silent_p.F390F|USP30_uc001tnw.3_Silent_p.F138F	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	421	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						CGATGCCCTTCCCTCTCCCAG	0.502		NA											71	350					0	0	0	0
C12orf76	400073	broad.mit.edu	37	12	110495088	110495088	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:110495088C>T	uc001tqd.1	-	4	570	c.205G>A	c.(205-207)GAG>AAG	p.E69K	C12orf76_uc001tqe.1_RNA|C12orf76_uc010sxx.1_RNA|uc001tqf.1_Intron	NM_207435	NP_997318	Q8N812	CL076_HUMAN	hypothetical protein LOC400073	69										large_intestine(1)	1						AAGTTCCTCTCCCCCTTACAG	0.512		NA											4	35					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111776107	111776107	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111776107G>A	uc001tsa.1	+	20	3367	c.3214G>A	c.(3214-3216)GAA>AAA	p.E1072K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1072	CUT 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GCTGTTTGGGGAAAGCATCCT	0.622		NA											9	68					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111785402	111785402	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111785402G>A	uc001tsa.1	+	22	3887	c.3734G>A	c.(3733-3735)GGA>GAA	p.G1245E		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGGGGTCCTGGAATCCTACCG	0.652		NA											12	92					0	0	0	0
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:111951193G>A	uc001tsj.2	-	11	2168	c.2006C>T	c.(2005-2007)TCG>TTG	p.S669L	ATXN2_uc001tsh.2_Missense_Mutation_p.S404L|ATXN2_uc001tsi.2_Missense_Mutation_p.S380L|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S404L	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CGTTCCCCCCGAGGGACTGGT	0.512		NA											37	49					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112182645	112182646	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:112182645_112182646CC>TT	uc001tsq.2	+	13	2113_2114	c.1913_1914CC>TT	c.(1912-1914)TCC>TTT	p.S638F	ACAD10_uc001tsp.2_Missense_Mutation_p.S638F|ACAD10_uc009zvx.2_Missense_Mutation_p.S669F|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	638							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AGTTATAGCTCCGTTCCAGAAG	0.564		NA											15	64					0	0	0	0
MED13L	23389	broad.mit.edu	37	12	116434339	116434339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:116434339G>A	uc001tvw.2	-	16	2993	c.2938C>T	c.(2938-2940)CCT>TCT	p.P980S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	980					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCAATTTTAGGAGGAATTGCC	0.458		NA											15	64					0	0	0	0
SRRM4	84530	broad.mit.edu	37	12	119588916	119588916	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119588916C>T	uc001txa.1	+	10	1463	c.1171C>T	c.(1171-1173)CGC>TGC	p.R391C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	391	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGGGTGTTCCCGCAGCTCCTC	0.592		NA											5	48					0	0	0	0
CCDC60	160777	broad.mit.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:119866561G>A	uc001txe.2	+	2	629	c.164G>A	c.(163-165)CGA>CAA	p.R55Q	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478		NA											4	12					0	0	0	0
HNF1A	6927	broad.mit.edu	37	12	121416883	121416883	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:121416883G>A	uc001tzg.2	+	1	335	c.312G>A	c.(310-312)GTG>GTA	p.V104V	HNF1A_uc001tze.1_Silent_p.V104V|HNF1A_uc001tzf.2_Silent_p.V104V|HNF1A_uc010szn.1_Silent_p.V104V	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	104					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGCCGTGGTGGAGACCCTTC	0.642		NA							Hepatic_Adenoma_Familial_Clustering_of				5	14					0	0	0	0
RSRC2	65117	broad.mit.edu	37	12	123001925	123001925	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123001925C>T	uc001ucr.2	-	5	597	c.451G>A	c.(451-453)GAG>AAG	p.E151K	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.E92K|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.E103K|RSRC2_uc001ucu.2_Missense_Mutation_p.E151K	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	151	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTCTTCCGCTCCCTACTCCTG	0.463		NA											23	79					0	0	0	0
HIP1R	9026	broad.mit.edu	37	12	123343423	123343423	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123343423C>T	uc001udj.1	+	21	2148	c.2089C>T	c.(2089-2091)CAC>TAC	p.H697Y	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	697					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCGCTTCTCCCACCTGGCTGC	0.657		NA											16	70					0	0	0	0
VPS37B	79720	broad.mit.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123351949T>G	uc001udl.2	-	4	675	c.572A>C	c.(571-573)TAC>TCC	p.Y191S		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	191	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706		NA											8	46					0	0	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687373	123687373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123687373G>A	uc001uel.2	-	6	1230	c.1123C>T	c.(1123-1125)CAA>TAA	p.Q375*	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	375					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTTCGTTTTGGAATGTCTGA	0.403		NA											22	134					0	0	0	0
SBNO1	55206	broad.mit.edu	37	12	123812357	123812357	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:123812357C>A	uc010tap.1	-	11	1435	c.1435G>T	c.(1435-1437)GCT>TCT	p.A479S	SBNO1_uc010tao.1_Missense_Mutation_p.A478S|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.A479S|SBNO1_uc001ueu.2_Missense_Mutation_p.A478S|SBNO1_uc001uev.2_Missense_Mutation_p.A477S|SBNO1_uc009zxy.1_Missense_Mutation_p.A444S	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	479							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTTCAGAAGCACCTGAAAAT	0.343		NA											13	79					0.00010058	0.000101982	1	0
DNAH10	196385	broad.mit.edu	37	12	124272466	124272466	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124272466C>T	uc001uft.3	+	10	1379	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAGGGAAGATCGGTGGGAGTT	0.577		NA											13	25					0	0	0	0
CCDC92	80212	broad.mit.edu	37	12	124421792	124421792	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124421792G>A	uc001ufw.1	-	5	956	c.809C>T	c.(808-810)TCC>TTC	p.S270F	CCDC92_uc001ufv.1_Missense_Mutation_p.S253F|CCDC92_uc001ufx.1_Missense_Mutation_p.S270F|CCDC92_uc001ufy.1_Missense_Mutation_p.S253F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	270											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCGGTCGGAGGCGATGGG	0.692		NA											7	52					0	0	0	0
ZNF664	144348	broad.mit.edu	37	12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124497004C>T	uc001ufz.2	+	6	2143	c.313C>T	c.(313-315)CAT>TAT	p.H105Y	ZNF664_uc001uga.2_Missense_Mutation_p.H105Y|ZNF664_uc001ugb.2_Missense_Mutation_p.H105Y	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408		NA											39	57					0	0	0	0
NCOR2	9612	broad.mit.edu	37	12	124819764	124819764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:124819764G>A	uc010tay.1	-	42	6514	c.6358C>T	c.(6358-6360)CAG>TAG	p.Q2120*	NCOR2_uc010taz.1_Nonsense_Mutation_p.Q2104*|NCOR2_uc010tax.1_Nonsense_Mutation_p.Q231*	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2121					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GACGAGGGCTGGCTCTCAGGC	0.687		NA											11	16					0	0	0	0
DHX37	57647	broad.mit.edu	37	12	125460001	125460001	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125460001G>A	uc001ugy.2	-	6	1043	c.944C>T	c.(943-945)TCC>TTC	p.S315F		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	315	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACTCGCTGGGACATGGCCAC	0.647		NA											25	55					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834437	125834438	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:125834437_125834438CC>TT	uc001uhe.1	+	2	500_501	c.492_493CC>TT	c.(490-495)TTCCCT>TTTTCT	p.P165S		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	165	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)		TGTTTGCTTTCCCTGAGGCCAG	0.584		NA											32	129					0	0	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138849	126138849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:126138849G>A	uc001uhe.1	+	9	2838	c.2830G>A	c.(2830-2832)GAC>AAC	p.D944N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D456N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	944	Cytoplasmic (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)		CCATTCCCACGACTGGGTCTG	0.517		NA											17	101					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559115	129559115	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559115C>T	uc009zyl.1	-	9	2933	c.2605G>A	c.(2605-2607)GAA>AAA	p.E869K	TMEM132D_uc001uia.2_Missense_Mutation_p.E407K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	869	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAAGGCTTTCCTGGCCTTTC	0.557		NA											13	49					0	0	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559604	129559604	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:129559604C>T	uc009zyl.1	-	9	2444	c.2116G>A	c.(2116-2118)GAA>AAA	p.E706K	TMEM132D_uc001uia.2_Missense_Mutation_p.E244K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	706	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGGCTGCTTCCTATGGAGAA	0.443		NA											4	36					0	0	0	0
FZD10	11211	broad.mit.edu	37	12	130648775	130648775	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:130648775G>A	uc001uii.2	+	1	1744	c.1288G>A	c.(1288-1290)GGC>AGC	p.G430S	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	430	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GATGAAGACGGGCGGCGAGAA	0.607		NA											13	60					0	0	0	0
CHFR	55743	broad.mit.edu	37	12	133423717	133423717	+	Splice_Site	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:133423717C>A	uc001ulf.2	-	15	1768	c.1684_splice	c.e15-1	p.N562_splice	CHFR_uc001ulc.1_Splice_Site|CHFR_uc001ule.2_Splice_Site_p.N550_splice|CHFR_uc010tbs.1_Splice_Site_p.N561_splice|CHFR_uc001uld.2_Splice_Site_p.N521_splice|CHFR_uc010tbt.1_Splice_Site_p.N470_splice	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains						cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCAGGTAATTCTGTGACGCAA	0.443		NA											8	38					3.1e-07	3.17e-07	1	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	C	T	rs140148307		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:20067628C>T	uc001umd.2	-	3	236	c.25G>A	c.(25-27)GAA>AAA	p.E9K	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.E9K|TPTE2_uc001ume.2_Missense_Mutation_p.E9K|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358		NA											30	112					0	0	0	0
IFT88	8100	broad.mit.edu	37	13	21205187	21205187	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21205187G>A	uc001unh.2	+	18	1755	c.1359G>A	c.(1357-1359)AAG>AAA	p.K453K	IFT88_uc001uni.2_Silent_p.K444K|IFT88_uc001unj.2_Silent_p.K443K|IFT88_uc010tcq.1_Silent_p.K424K|IFT88_uc001unk.2_Silent_p.K199K|IFT88_uc001unl.1_Silent_p.K71K	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	453	TPR 5.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGGAAAAAAAGGACAGTAGAG	0.353		NA											23	95					0	0	0	0
LATS2	26524	broad.mit.edu	37	13	21563351	21563351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:21563351G>A	uc009zzs.2	-	4	933	c.568C>T	c.(568-570)CCC>TCC	p.P190S	LATS2_uc001unr.3_Missense_Mutation_p.P190S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	190					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCCTCGTAGGGGGTACCGCTC	0.677		NA											8	64					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23907553	23907553	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23907553G>A	uc001uon.2	-	10	11051	c.10462C>T	c.(10462-10464)CTC>TTC	p.L3488F	SACS_uc001uoo.2_Missense_Mutation_p.L3341F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3488					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATAAGAGAGATTTTCAATT	0.308		NA											6	31					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23913425	23913425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23913425G>A	uc001uon.2	-	10	5179	c.4590C>T	c.(4588-4590)TTC>TTT	p.F1530F	SACS_uc001uoo.2_Silent_p.F1383F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1530					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAATCTGAGAATTGAGAAT	0.373		NA											10	30					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23930133	23930133	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:23930133G>A	uc001uon.2	-	8	1207	c.618C>T	c.(616-618)ATC>ATT	p.I206I	SACS_uc001uoo.2_Silent_p.I59I|SACS_uc001uop.1_5'UTR|SACS_uc001uoq.1_Silent_p.I59I	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	206					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACCACTAAAGATACAAGGAA	0.333		NA											5	19					0	0	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466110	24466110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24466110C>T	uc010tcw.1	-	3	320	c.320G>A	c.(319-321)GGG>GAG	p.G107E	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_3'UTR|PCOTH_uc009zzx.2_3'UTR|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.G107E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	107	Collagen-like 2.					collagen					0						TCCCATGGGCCCTGCAAGCCC	0.577		NA											19	73					0	0	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895224	24895224	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:24895224G>A	uc001upj.2	+	4	381	c.320G>A	c.(319-321)GGG>GAG	p.G107E	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	107	Collagen-like 2.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCTTGCAGGGCCCATGGGA	0.582		NA											4	26					0	0	0	0
ATP12A	479	broad.mit.edu	37	13	25272805	25272805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:25272805C>T	uc001upp.2	+	12	1709	c.1522C>T	c.(1522-1524)CAC>TAC	p.H508Y	ATP12A_uc010aaa.2_Missense_Mutation_p.H514Y	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	508	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTCTCCATCCACGAGATGGA	0.512		NA											12	30					0	0	0	0
ATP8A2	51761	broad.mit.edu	37	13	26411409	26411409	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:26411409G>A	uc001uqk.2	+	29	3005	c.2863G>A	c.(2863-2865)GGC>AGC	p.G955S	ATP8A2_uc010tdi.1_Missense_Mutation_p.G890S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G505S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	915	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAATGGCGAAGGCTTCAACAC	0.493		NA											19	69					0	0	0	0
WASF3	10810	broad.mit.edu	37	13	27256961	27256961	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:27256961C>T	uc001uqv.2	+	9	1426	c.1201C>T	c.(1201-1203)CCA>TCA	p.P401S	WASF3_uc001uqw.2_Missense_Mutation_p.P398S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	401	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCGGGCCCACCACCTCCCCC	0.706		NA											20	46					0	0	0	0
MTUS2	23281	broad.mit.edu	37	13	29599353	29599354	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:29599353_29599354GG>AA	uc001usl.3	+	1	606_607	c.548_549GG>AA	c.(547-549)AGG>AAA	p.R183K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	173						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GAGGAACTGAGGAGGCATTCTT	0.545		NA											14	73					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32776527	32776527	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32776527A>G	uc001utx.2	+	31	4377	c.3881A>G	c.(3880-3882)AAA>AGA	p.K1294R	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1294					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)		TACTCAAAGAAAGTCGCTGAG	0.443		NA											17	87					0	0	0	0
FRY	10129	broad.mit.edu	37	13	32805375	32805375	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:32805375G>A	uc001utx.2	+	41	5961	c.5465G>A	c.(5464-5466)AGT>AAT	p.S1822N	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1822					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)		AATTCAAAGAGTGCTGAACAG	0.353		NA											18	51					0	0	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016575	33016575	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:33016575C>T	uc010abe.1	-	7	2121	c.2099G>A	c.(2098-2100)GGG>GAG	p.G700E	N4BP2L2_uc001uug.2_Missense_Mutation_p.G583E|N4BP2L2_uc010abd.1_Missense_Mutation_p.G613E|N4BP2L2_uc001uuh.2_Missense_Mutation_p.G531E|N4BP2L2_uc001uuj.2_Missense_Mutation_p.G119E|N4BP2L2_uc010tdz.1_Missense_Mutation_p.G685E	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAAGGCAAACCCTTGTGATAA	0.398		NA											6	20					0	0	0	0
NBEA	26960	broad.mit.edu	37	13	35622772	35622772	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:35622772G>A	uc001uvb.2	+	6	1002	c.796G>A	c.(796-798)GAT>AAT	p.D266N		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	266						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTTCGTATGGATCCATTAAA	0.318		NA											11	16					0	0	0	0
SMAD9	4093	broad.mit.edu	37	13	37446912	37446912	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:37446912G>A	uc001uvw.2	-	3	896	c.553C>T	c.(553-555)CCG>TCG	p.P185S	SMAD9_uc001uvx.2_Missense_Mutation_p.P185S|SMAD9_uc010tep.1_Missense_Mutation_p.P15S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	185					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGAGCACGGAGGCTGCTGG	0.647		NA											12	41					0	0	0	0
POSTN	10631	broad.mit.edu	37	13	38160276	38160276	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:38160276C>T	uc001uwo.3	-	7	1013	c.895G>A	c.(895-897)GCT>ACT	p.A299T	POSTN_uc001uwp.3_Missense_Mutation_p.A299T|POSTN_uc001uwr.2_Missense_Mutation_p.A299T|POSTN_uc001uwq.2_Missense_Mutation_p.A299T|POSTN_uc010teu.1_Missense_Mutation_p.A299T|POSTN_uc010tev.1_Missense_Mutation_p.A299T|POSTN_uc010tew.1_Missense_Mutation_p.A299T|POSTN_uc010tex.1_Missense_Mutation_p.A214T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	299	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTAAACTACCTTCGGAAGCC	0.418		NA											33	61					0	0	0	0
MTRF1	9617	broad.mit.edu	37	13	41826834	41826834	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:41826834G>A	uc001uxx.2	-	7	1114	c.644C>T	c.(643-645)TCG>TTG	p.S215L	MTRF1_uc001uxy.2_Missense_Mutation_p.S215L|MTRF1_uc001uxz.2_Missense_Mutation_p.S51L|MTRF1_uc010tff.1_Missense_Mutation_p.S228L|MTRF1_uc001uyc.1_Missense_Mutation_p.S215L	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	215					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTATAGCACGAATAATTCTG	0.333		NA											12	29					0	0	0	0
DGKH	160851	broad.mit.edu	37	13	42733462	42733462	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:42733462C>T	uc001uyl.1	+	6	704	c.683C>T	c.(682-684)ACT>ATT	p.T228I	DGKH_uc010tfh.1_Missense_Mutation_p.T228I|DGKH_uc001uym.1_Missense_Mutation_p.T228I|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Missense_Mutation_p.T83I|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.T83I|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	228					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTAAATGGACTACCCTGGCC	0.398		NA											5	22					0	0	0	0
SPERT	220082	broad.mit.edu	37	13	46287594	46287594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46287594C>T	uc001van.1	+	3	514	c.434C>T	c.(433-435)CCC>CTC	p.P145L	SPERT_uc001vao.2_Missense_Mutation_p.P109L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	145						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTGCAGTCTCCCTACTTCTCC	0.617		NA											12	49					0	0	0	0
SIAH3	283514	broad.mit.edu	37	13	46357846	46357846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46357846G>A	uc001vap.2	-	2	564	c.482C>T	c.(481-483)TCC>TTC	p.S161F		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	161					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GCCAAGGCAGGAGTGCATGAT	0.597		NA											7	23					0	0	0	0
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46701838C>T	uc001vaz.3	-	16	1898	c.1772G>A	c.(1771-1773)CGA>CAA	p.R591Q	LCP1_uc010ack.2_Missense_Mutation_p.R160Q|LCP1_uc001vay.3_Missense_Mutation_p.R188Q|LCP1_uc001vba.3_Missense_Mutation_p.R591Q	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	591	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCAATTTTTCGGGCCATAGA	0.488		NA	T	BCL6	NHL 								30	130					0	0	0	0
C13orf18	80183	broad.mit.edu	37	13	46918956	46918956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:46918956C>T	uc010acl.2	-	14	2401	c.1796G>A	c.(1795-1797)GGA>GAA	p.G599E	C13orf18_uc010tfy.1_Missense_Mutation_p.G122E|C13orf18_uc001vbf.3_Missense_Mutation_p.G532E|C13orf18_uc001vbg.3_Missense_Mutation_p.G327E|C13orf18_uc010tfz.1_Missense_Mutation_p.G442E|C13orf18_uc010acm.2_Missense_Mutation_p.G464E|C13orf18_uc010acn.2_Missense_Mutation_p.G384E|C13orf18_uc001vbe.3_Missense_Mutation_p.E548K|C13orf18_uc001vbh.3_Missense_Mutation_p.G599E|C13orf18_uc001vbi.3_Missense_Mutation_p.G442E	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	599											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		AAAGCCCTTTCCTTGACACAG	0.338		NA											3	20					0	0	0	0
KPNA3	3839	broad.mit.edu	37	13	50285056	50285056	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50285056G>A	uc001vdj.2	-	11	1289	c.874C>T	c.(874-876)CTT>TTT	p.L292F		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	292	ARM 6.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TGGCTCAGAAGGGGCACAAGA	0.378		NA											12	38					0	0	0	0
KPNA3	3839	broad.mit.edu	37	13	50299560	50299560	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:50299560A>C	uc001vdj.2	-	7	876	c.461T>G	c.(460-462)GTG>GGG	p.V154G		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	154	ARM 3.|NLS binding site (major) (By similarity).			V -> G (in Ref. 3; AAB87693).	interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACTAGACTGCACAACAGCTTG	0.338		NA											8	36					0	0	0	0
FAM124A	220108	broad.mit.edu	37	13	51826338	51826338	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:51826338G>A	uc001vfg.1	+	3	965	c.834_splice	c.e3+1	p.Q278_splice	FAM124A_uc001vfe.2_Missense_Mutation_p.V279I|FAM124A_uc001vff.1_Splice_Site_p.Q314_splice	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108											central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCTCCTACAGGTACTGGGGGG	0.562		NA											7	17					0	0	0	0
TDRD3	81550	broad.mit.edu	37	13	61102891	61102891	+	Missense_Mutation	SNP	C	C	T	rs138120427		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61102891C>T	uc001via.2	+	11	2041	c.1253C>T	c.(1252-1254)CCC>CTC	p.P418L	TDRD3_uc010aef.2_Missense_Mutation_p.P243L|TDRD3_uc001vhz.3_Missense_Mutation_p.P418L|TDRD3_uc010aeg.2_Missense_Mutation_p.P511L|TDRD3_uc001vib.3_Missense_Mutation_p.P417L	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	418					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAAAAGGTCCCTCCTTTGCA	0.363		NA											15	75					0	0	0	0
PCDH20	64881	broad.mit.edu	37	13	61986527	61986527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:61986527G>A	uc001vid.3	-	2	2069	c.1705C>T	c.(1705-1707)CAA>TAA	p.Q569*	PCDH20_uc010thj.1_Nonsense_Mutation_p.Q569*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	542	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TATGAAACTTGGCCTCTCTCC	0.443		NA											19	83					0	0	0	0
PIBF1	10464	broad.mit.edu	37	13	73401257	73401257	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:73401257G>A	uc001vjc.2	+	7	1220	c.915_splice	c.e7+1	p.E305_splice	PIBF1_uc001vja.1_Splice_Site_p.E305_splice|PIBF1_uc010aeo.1_Splice_Site|PIBF1_uc001vjb.2_Splice_Site_p.E305_splice|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1							centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCAAAAGAGGTAAGCTTATA	0.313		NA											12	31					0	0	0	0
KLF12	11278	broad.mit.edu	37	13	74420074	74420074	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:74420074G>A	uc001vjf.2	-	4	782	c.560C>T	c.(559-561)CCC>CTC	p.P187L	KLF12_uc010aeq.2_Missense_Mutation_p.P187L|KLF12_uc001vjg.3_Missense_Mutation_p.P187L	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TACCACCACGGGGATGCGGTG	0.507		NA											18	67					0	0	0	0
TBC1D4	9882	broad.mit.edu	37	13	75898414	75898414	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:75898414C>T	uc001vjl.1	-	11	2504	c.2157G>A	c.(2155-2157)CAG>CAA	p.Q719Q	TBC1D4_uc010aer.2_Silent_p.Q719Q|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	719	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACCTGAATTCTGGTAAAAGC	0.428		NA											15	48					0	0	0	0
FBXL3	26224	broad.mit.edu	37	13	77581856	77581856	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77581856A>C	uc001vkd.2	-	5	1082	c.711T>G	c.(709-711)AGT>AGG	p.S237R		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	237	LRR 4.				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ACAACTCATCACTCAATAAGT	0.378		NA											9	48					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77670523	77670523	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:77670523C>T	uc001vkf.2	-	58	9855	c.9764G>A	c.(9763-9765)GGA>GAA	p.G3255E	MYCBP2_uc010aev.2_Missense_Mutation_p.G2659E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3255	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGTGCTTCCTCCTATGCC	0.463		NA											28	73					0	0	0	0
SLAIN1	122060	broad.mit.edu	37	13	78335135	78335135	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78335135G>A	uc010thy.1	+	6	1138	c.1095G>A	c.(1093-1095)CCG>CCA	p.P365P	SLAIN1_uc001vkk.1_Silent_p.P288P|SLAIN1_uc001vkl.1_Silent_p.P244P|SLAIN1_uc010thz.1_Silent_p.P243P|SLAIN1_uc010aex.1_Silent_p.P130P|SLAIN1_uc010aey.1_Silent_p.P130P|SLAIN1_uc001vkm.2_Silent_p.P244P	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1 B	507										ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TCCCCACACCGAACAAAGCTG	0.488		NA											19	60					0	0	0	0
EDNRB	1910	broad.mit.edu	37	13	78477474	78477474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:78477474C>T	uc001vko.2	-	3	876	c.618G>A	c.(616-618)TGG>TGA	p.W206*	EDNRB_uc001vkq.1_Nonsense_Mutation_p.W206*|uc001vkn.1_Intron|EDNRB_uc010aez.1_Nonsense_Mutation_p.W206*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.W289*	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	206	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TAATTCTACTCCAAGAAGCAA	0.368		NA											24	132					0	0	0	0
RNF219	79596	broad.mit.edu	37	13	79191069	79191069	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:79191069G>A	uc001vkw.1	-	6	886	c.827C>T	c.(826-828)TCT>TTT	p.S276F	uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.S86F|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	276							zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCCATCTGCAGAAAGTGCTGT	0.443		NA											41	48					0	0	0	0
SPRY2	10253	broad.mit.edu	37	13	80911432	80911432	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:80911432C>T	uc001vli.2	-	2	1387	c.409G>A	c.(409-411)GGA>AGA	p.G137R	SPRY2_uc001vlj.2_Missense_Mutation_p.G137R	NM_005842	NP_005833	O43597	SPY2_HUMAN	sprouty 2	137					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			ovary(1)|lung(1)	2	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		AAGGATGATCCTAGCAGTCTC	0.562		NA											14	54					0	0	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416196	96416196	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:96416196T>G	uc001vmq.2	+	9	1172	c.1064T>G	c.(1063-1065)ATG>AGG	p.M355R	DNAJC3_uc001vmr.2_Missense_Mutation_p.M304R	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	355	TPR 9.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGAGGAAATGTATGATGAA	0.353		NA											29	49					0	0	0	0
FAM155A	728215	broad.mit.edu	37	13	108518049	108518049	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:108518049G>A	uc001vql.2	-	1	1412	c.896C>T	c.(895-897)TCC>TTC	p.S299F		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	299						integral to membrane	binding			skin(1)	1						TTCAGGACAGGATTTCACCGA	0.473		NA											20	68					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109459108	109459108	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:109459108G>A	uc001vqt.1	+	7	883	c.757G>A	c.(757-759)GAT>AAT	p.D253N	MYO16_uc010agk.1_Missense_Mutation_p.D275N|MYO16_uc001vqu.1_Missense_Mutation_p.D53N	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	253					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATAGTAGATGATCAGTACTG	0.413		NA											21	48					0	0	0	0
F10	2159	broad.mit.edu	37	13	113783849	113783849	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113783849C>A	uc001vsx.2	+	2	211	c.154C>A	c.(154-156)CAC>AAC	p.H52N	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.H52N|F10_uc001vsz.2_Missense_Mutation_p.H52N	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	52	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGAAAGGACACCTCGAAAG	0.567		NA											18	65					5.39e-06	5.49e-06	1	0
PCID2	55795	broad.mit.edu	37	13	113852537	113852537	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr13:113852537G>A	uc010tju.1	-	3	249	c.168C>T	c.(166-168)CCC>CCT	p.P56P	PCID2_uc010tjv.1_Silent_p.P56P|PCID2_uc010tjw.1_Silent_p.P56P|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	56					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCATAAGGGGGTTCCAAGA	0.368		NA											22	144					0	0	0	0
POTEG	404785	broad.mit.edu	37	14	19553775	19553775	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:19553775G>C	uc001vuz.1	+	1	411	c.359G>C	c.(358-360)TGG>TCG	p.W120S	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120										ovary(1)	1						GTGGGCCCTTGGGGAGACTAC	0.602		NA											54	680					0	0	0	0
OR4N2	390429	broad.mit.edu	37	14	20296255	20296255	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20296255C>T	uc010tkv.1	+	1	648	c.648C>T	c.(646-648)GCC>GCT	p.A216A		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	216	Helical; Name=5; (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)		GGCTTCTGGCCTCCTATGCAG	0.493		NA											25	117					0	0	0	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20344870C>T	uc001vwh.1	+	1	444	c.444C>T	c.(442-444)TCC>TCT	p.S148S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468		NA											46	246					0	0	0	0
OR4K15	81127	broad.mit.edu	37	14	20443771	20443771	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443771C>A	uc010tkx.1	+	1	94	c.94C>A	c.(94-96)CGG>AGG	p.R32R		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	32	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)		AAATCATTCTCGGGTGACAGA	0.403		NA											46	91					8e-19	8.3e-19	1	0
OR4K15	81127	broad.mit.edu	37	14	20443795	20443795	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20443795G>A	uc010tkx.1	+	1	118	c.118G>A	c.(118-120)GGA>AGA	p.G40R		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	40	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)		TGTGTTGCTGGGACTGTCTAG	0.403		NA											61	119					0	0	0	0
OR4K15	81127	broad.mit.edu	37	14	20444538	20444539	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20444538_20444539CA>AG	uc010tkx.1	+	1	861_862	c.861_862CA>AG	c.(859-864)AGCAGT>AGAGGT	p.287_288SS>RG		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	287_288	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)		GGCCCTTCAGCAGTTACTCAGT	0.45		NA											25	77					0	0	0	0
OR4K14	122740	broad.mit.edu	37	14	20482831	20482831	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20482831C>T	uc010tky.1	-	1	522	c.522G>A	c.(520-522)GAG>GAA	p.E174E		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGTCTACCTCATTGGGGC	0.483		NA											20	44					0	0	0	0
OR4K13	390433	broad.mit.edu	37	14	20502834	20502834	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20502834G>A	uc010tkz.1	-	1	84	c.84C>T	c.(82-84)TTC>TTT	p.F28F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAATCCCAAGAAGAATAAAA	0.403		NA											14	43					0	0	0	0
TEP1	7011	broad.mit.edu	37	14	20845880	20845880	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:20845880G>A	uc001vxe.2	-	40	5794	c.5754C>T	c.(5752-5754)CCC>CCT	p.P1918P	TEP1_uc010ahk.2_Silent_p.P1261P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.P1810P|TEP1_uc010tlh.1_Silent_p.P256P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1918	WD 7.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGTGCCCACGGGGCCGACCCA	0.577		NA											14	70					0	0	0	0
TPPP2	122664	broad.mit.edu	37	14	21499262	21499262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21499262G>A	uc001vzh.2	+	3	453	c.265G>A	c.(265-267)GAA>AAA	p.E89K	NDRG2_uc010tll.1_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family	89						cytoplasm					0	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGTCCAGATGAAGTCCTGGA	0.537		NA											11	70					0	0	0	0
FLJ10357	55701	broad.mit.edu	37	14	21547156	21547156	+	Missense_Mutation	SNP	G	G	A	rs143586197		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:21547156G>A	uc001vzp.2	+	11	2389	c.2360G>A	c.(2359-2361)CGG>CAG	p.R787Q	FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R73Q	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	787					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CAGTGCCTGCGGCGACTCCAG	0.602		NA											15	27					0	0	0	0
MMP14	4323	broad.mit.edu	37	14	23312536	23312536	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23312536C>T	uc001whc.2	+	5	993	c.759C>T	c.(757-759)CCC>CCT	p.P253P		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	253	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCAGTGACCCCTCGGCCATCA	0.577		NA											23	80					0	0	0	0
RBM23	55147	broad.mit.edu	37	14	23374831	23374831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23374831C>T	uc001whg.2	-	6	638	c.439G>A	c.(439-441)GAG>AAG	p.E147K	RBM23_uc001whh.2_Missense_Mutation_p.E131K|RBM23_uc001whi.2_Intron|RBM23_uc010tne.1_5'UTR|RBM23_uc001whj.2_Intron|RBM23_uc001whk.1_Missense_Mutation_p.E147K	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	147					mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGGCTCTTCTCTCTGAAATGA	0.383		NA											26	78					0	0	0	0
C14orf93	60686	broad.mit.edu	37	14	23465357	23465357	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23465357G>A	uc001wib.1	-	3	1028	c.718C>T	c.(718-720)CCA>TCA	p.P240S	C14orf93_uc001wic.1_Missense_Mutation_p.P60S|C14orf93_uc001wid.1_Missense_Mutation_p.P240S|C14orf93_uc001wig.2_Missense_Mutation_p.P240S|C14orf93_uc001wih.2_Missense_Mutation_p.P240S|C14orf93_uc001wie.2_Missense_Mutation_p.P240S|C14orf93_uc001wia.3_Missense_Mutation_p.P240S|C14orf93_uc001wif.2_Missense_Mutation_p.P60S	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	240						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCATTTTCTGGTCCTGTCTCT	0.602		NA											12	96					0	0	0	0
PABPN1	8106	broad.mit.edu	37	14	23793208	23793209	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23793208_23793209GT>AA	uc001wjk.2	+	5	1958_1959	c.676_677GT>AA	c.(676-678)GTG>AAG	p.V226K	PABPN1_uc001wjh.3_Missense_Mutation_p.V253K|PABPN1_uc001wjj.2_Missense_Mutation_p.V226K	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	226	Necessary for homooligomerization.|RRM.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAAAGAGTCAGTGAGGACTTCC	0.332		NA											10	65					0	0	0	0
MYH6	4624	broad.mit.edu	37	14	23855233	23855233	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:23855233C>T	uc001wjv.2	-	34	5134	c.5067G>A	c.(5065-5067)GAG>GAA	p.E1689E		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1689	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGGCACGCAGCTCCTCCAGCT	0.642		NA											12	33					0	0	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24459498	24459498	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24459498A>G	uc001wli.3	+	2	366	c.236A>G	c.(235-237)GAG>GGG	p.E79G	DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_RNA|DHRS4L2_uc001wlh.3_RNA|DHRS4L2_uc010tnt.1_Missense_Mutation_p.E77G	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4	51							binding|oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)		CTGCAGGGGGAGGGGCTGAGC	0.687		NA											3	64					0	0	0	0
REC8	9985	broad.mit.edu	37	14	24647314	24647314	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24647314C>T	uc001wmr.2	+	14	1309	c.882C>T	c.(880-882)CCC>CCT	p.P294P	REC8_uc001wms.2_Silent_p.P294P	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	294	Pro-rich.|Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		CCCCAGTCCCCCCACCTCCTC	0.612		NA											10	67					0	0	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884780	24884780	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24884780C>T	uc001wpf.3	+	9	4143	c.3825C>T	c.(3823-3825)CTC>CTT	p.L1275L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1275					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGCCCTCCTCCAGGGCCTGC	0.632		NA											23	74					0	0	0	0
KHNYN	23351	broad.mit.edu	37	14	24901080	24901080	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:24901080G>A	uc001wph.3	+	3	815	c.613G>A	c.(613-615)GCA>ACA	p.A205T	KHNYN_uc010tpc.1_Missense_Mutation_p.A246T|KHNYN_uc010alw.2_Missense_Mutation_p.A205T|CBLN3_uc001wpg.3_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	205										ovary(2)|liver(1)	3						GGGGCCAGGAGCACTGGCTTC	0.652		NA									OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	105					0	0	0	0
G2E3	55632	broad.mit.edu	37	14	31071301	31071301	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31071301G>A	uc001wqk.2	+	10	1128	c.974G>A	c.(973-975)AGA>AAA	p.R325K	G2E3_uc010tpe.1_Missense_Mutation_p.R240K|G2E3_uc010tpf.1_Missense_Mutation_p.R279K	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	325					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AAATTACCCAGACAGTCACCT	0.348		NA											26	44					0	0	0	0
SCFD1	23256	broad.mit.edu	37	14	31185183	31185183	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31185183C>T	uc001wqm.1	+	20	1707	c.1683C>T	c.(1681-1683)CCC>CCT	p.P561P	SCFD1_uc001wqn.1_Silent_p.P494P|SCFD1_uc010tpg.1_Silent_p.P502P|SCFD1_uc010tph.1_Silent_p.P376P|SCFD1_uc010amf.1_Silent_p.P376P|SCFD1_uc010tpi.1_Silent_p.P469P|SCFD1_uc010amd.1_3'UTR|SCFD1_uc010ame.1_Silent_p.P494P	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	561					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCAAACCCCGTGAGTACCA	0.328		NA											9	86					0	0	0	0
COCH	1690	broad.mit.edu	37	14	31346827	31346827	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31346827G>A	uc001wqr.2	+	4	212	c.132G>A	c.(130-132)GAG>GAA	p.E44E	COCH_uc001wqp.2_Silent_p.E44E|COCH_uc001wqq.3_Silent_p.E44E|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	44	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGGAAAGAGAAAGCAGATG	0.463		NA											10	77					0	0	0	0
HECTD1	25831	broad.mit.edu	37	14	31574596	31574596	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:31574596G>A	uc001wrc.1	-	40	7881	c.7392C>T	c.(7390-7392)GCC>GCT	p.A2464A	HECTD1_uc001wra.1_Silent_p.A590A|HECTD1_uc001wrb.1_Silent_p.A590A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2464	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACCTCTAAAGGCTTCCATTT	0.318		NA											68	147					0	0	0	0
AKAP6	9472	broad.mit.edu	37	14	33293542	33293542	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:33293542C>T	uc001wrq.2	+	13	6693	c.6523C>T	c.(6523-6525)CCT>TCT	p.P2175S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2175					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTAGTGCTCCTCCAAATGA	0.468		NA											7	36					0	0	0	0
KIAA0391	9692	broad.mit.edu	37	14	35595980	35595980	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:35595980C>T	uc001wsy.1	+	3	1386	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	KIAA0391_uc010tps.1_Silent_p.V247V|KIAA0391_uc001wsz.1_Intron|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Intron|KIAA0391_uc001wtc.1_5'UTR	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	342					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCACCACAGTCCGAAAAAGGT	0.318		NA											4	27					0	0	0	0
SLC25A21	89874	broad.mit.edu	37	14	37194875	37194875	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:37194875G>A	uc001wtz.1	-	6	648	c.338C>T	c.(337-339)GCC>GTC	p.A113V		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	113	Solcar 2.|Helical; Name=3; (Potential).				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TCCAGCAATGGCGAATGTCTA	0.368		NA											7	35					0	0	0	0
MIA2	117153	broad.mit.edu	37	14	39717158	39717158	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:39717158C>T	uc001wux.2	+	4	1574	c.1380C>T	c.(1378-1380)TTC>TTT	p.F460F	MIA2_uc010amy.1_Silent_p.F391F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	460						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGAAAAAGTTCTTGTATAATT	0.308		NA											24	90					0	0	0	0
RPL10L	140801	broad.mit.edu	37	14	47120888	47120888	+	Missense_Mutation	SNP	G	G	A	rs146301674		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:47120888G>A	uc001wwg.2	-	1	141	c.52C>T	c.(52-54)CCA>TCA	p.P18S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	18					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CGAGATTTTGGGTACGGCTTG	0.547		NA											42	87					0	0	0	0
C14orf101	54916	broad.mit.edu	37	14	57099810	57099810	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:57099810C>T	uc001xcm.2	+	13	1767	c.1645C>T	c.(1645-1647)CCT>TCT	p.P549S	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.P82S|C14orf101_uc001xco.2_Missense_Mutation_p.P82S	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	549						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CAAATTAGTTCCTTTGGAGAT	0.378		NA											31	51					0	0	0	0
C14orf37	145407	broad.mit.edu	37	14	58605578	58605578	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58605578T>G	uc001xdc.2	-	2	610	c.499A>C	c.(499-501)ACT>CCT	p.T167P	C14orf37_uc010tro.1_Missense_Mutation_p.T205P|C14orf37_uc001xdd.2_Missense_Mutation_p.T167P|C14orf37_uc001xde.2_Missense_Mutation_p.T167P	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	167	Extracellular (Potential).					integral to membrane	binding				0						TGAAAGTTAGTGCTTGTAAGG	0.408		NA											4	38					0	0	0	0
ARID4A	5926	broad.mit.edu	37	14	58814436	58814436	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:58814436C>T	uc001xdp.2	+	15	1498	c.1244C>T	c.(1243-1245)CCA>CTA	p.P415L	ARID4A_uc001xdo.2_Missense_Mutation_p.P415L|ARID4A_uc001xdq.2_Missense_Mutation_p.P415L|ARID4A_uc010apg.1_Missense_Mutation_p.P93L	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	415					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6						CACCATGAACCAAAAGTAAAA	0.348		NA											32	75					0	0	0	0
DACT1	51339	broad.mit.edu	37	14	59113414	59113414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:59113414G>A	uc001xdw.2	+	4	2237	c.2073G>A	c.(2071-2073)CTG>CTA	p.L691L	DACT1_uc010trv.1_Silent_p.L410L|DACT1_uc001xdx.2_Silent_p.L654L|DACT1_uc010trw.1_Silent_p.L410L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	691					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						AAGAGGCCCTGAGGAGGGCCC	0.677		NA											9	32					0	0	0	0
C14orf135	64430	broad.mit.edu	37	14	60591858	60591858	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:60591858C>T	uc001xer.3	+	8	2789	c.2267C>T	c.(2266-2268)CCT>CTT	p.P756L	C14orf135_uc001xeq.2_Missense_Mutation_p.P756L|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	990						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		AATATGGCTCCTAGTCCTGGT	0.378		NA											12	25					0	0	0	0
PRKCH	5583	broad.mit.edu	37	14	61952223	61952223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:61952223C>T	uc001xfn.2	+	10	1587	c.1282C>T	c.(1282-1284)CGT>TGT	p.R428C	PRKCH_uc010tsa.1_Missense_Mutation_p.R267C|PRKCH_uc010tsb.1_5'UTR	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	428	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TATCCAGGATCGTCTGTTTTT	0.473		NA											127	272					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62536443	62536443	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:62536443G>A	uc001xfu.1	+	2	843	c.646G>A	c.(646-648)GGA>AGA	p.G216R	SYT16_uc010tsd.1_Missense_Mutation_p.G216R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	216										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGAGAAAGGAAAGCAGAC	0.483		NA											51	116					0	0	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208865	65208865	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65208865C>T	uc001xho.1	+	16	2899	c.2630C>T	c.(2629-2631)CCG>CTG	p.P877L	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P821L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P998L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P419L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P382L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCGCAGCCCGGCCCACCTG	0.672		NA											12	40					0	0	0	0
FNTB	2342	broad.mit.edu	37	14	65453806	65453806	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:65453806C>T	uc001xia.2	+	1	300	c.135C>T	c.(133-135)TCC>TCT	p.S45S	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|uc001xib.2_5'Flank	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	45					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTCACGTCCATAGAACAGG	0.667		NA											16	31					0	0	0	0
PLEK2	26499	broad.mit.edu	37	14	67859925	67859925	+	Silent	SNP	G	G	A	rs149134361		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:67859925G>A	uc001xjh.1	-	4	475	c.423C>T	c.(421-423)ACC>ACT	p.T141T		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	141	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AACGGATTCCGGTGTTGCTAT	0.582		NA											41	213					0	0	0	0
DCAF5	8816	broad.mit.edu	37	14	69558501	69558501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:69558501G>A	uc001xkp.2	-	6	988	c.769C>T	c.(769-771)CCT>TCT	p.P257S	DCAF5_uc001xkq.2_Missense_Mutation_p.P256S|DCAF5_uc001xkr.3_Missense_Mutation_p.P257S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	257						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						TAGAGCACAGGGGGCAGGCGT	0.542		NA											20	126					0	0	0	0
PCNX	22990	broad.mit.edu	37	14	71444535	71444535	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:71444535C>T	uc001xmo.2	+	6	1927	c.1481C>T	c.(1480-1482)CCC>CTC	p.P494L	PCNX_uc001xmn.3_Missense_Mutation_p.P494L|PCNX_uc010are.1_Missense_Mutation_p.P494L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	494						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)		AATAAAAATCCCCATGCAAAT	0.493		NA											10	27					0	0	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490962	73490962	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:73490962C>T	uc001xnm.2	-	2	895	c.255G>A	c.(253-255)AGG>AGA	p.R85R	ZFYVE1_uc010arj.2_Silent_p.R85R	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	85						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTGCCCTCTGCCTAACACCTG	0.517		NA											44	210					0	0	0	0
FAM161B	145483	broad.mit.edu	37	14	74411450	74411450	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74411450G>A	uc001xpd.1	-	3	619	c.513C>T	c.(511-513)GTC>GTT	p.V171V		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1						ATGGCCGAGGGACAGTAATGG	0.662		NA											4	33					0	0	0	0
TMEM90A	646658	broad.mit.edu	37	14	74874630	74874630	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:74874630G>A	uc001xpx.2	-	3	728	c.480C>T	c.(478-480)GAC>GAT	p.D160D		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	160					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		GTCCCAGGTGGTCCCTGGGAG	0.577		NA											6	43					0	0	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275791	77275791	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77275791G>T	uc001xsv.2	-	2	373	c.260C>A	c.(259-261)GCC>GAC	p.A87D	ANGEL1_uc010tvf.1_Missense_Mutation_p.A87D	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	angel homolog 1	87										ovary(2)|central_nervous_system(1)|skin(1)	4			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGCTCTGGGCTAGTCCTTT	0.567		NA											9	53					0.00621372	0.00626664	1	0
POMT2	29954	broad.mit.edu	37	14	77746178	77746178	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77746178C>T	uc001xti.2	-	18	2080	c.1879G>A	c.(1879-1881)GCG>ACG	p.A627T	POMT2_uc001xth.1_Missense_Mutation_p.A325T	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	627					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GCAACCTCCGCTGGCAGCCGT	0.657		NA											5	26					0	0	0	0
C14orf148	122945	broad.mit.edu	37	14	77872358	77872358	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77872358G>A	uc001xtr.2	-	5	950	c.803C>T	c.(802-804)TCC>TTC	p.S268F		NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	268					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AAAGTGCACGGAGAGAAAGAG	0.468		NA											14	55					0	0	0	0
C14orf148	122945	broad.mit.edu	37	14	77889183	77889183	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77889183G>A	uc001xtr.2	-	1	197	c.50C>T	c.(49-51)CCA>CTA	p.P17L	C14orf148_uc010tvi.1_Missense_Mutation_p.P17L	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	17					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		ATCTTCCTCTGGAACCCCATA	0.478		NA											39	206					0	0	0	0
ISM2	145501	broad.mit.edu	37	14	77950775	77950775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:77950775C>T	uc001xtz.2	-	3	592	c.518G>A	c.(517-519)GGG>GAG	p.G173E	ISM2_uc001xua.2_Missense_Mutation_p.G173E|ISM2_uc001xty.2_Missense_Mutation_p.G85E|ISM2_uc010tvl.1_Intron	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	173						extracellular region				skin(1)	1						CGTGGCATTCCCTGGGGTCAG	0.602		NA											14	102					0	0	0	0
PTPN21	11099	broad.mit.edu	37	14	88938664	88938665	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:88938664_88938665GG>AA	uc001xwv.3	-	15	3125_3126	c.2794_2795CC>TT	c.(2794-2796)CCT>TTT	p.P932F	PTPN21_uc010twc.1_Missense_Mutation_p.P728F	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	932	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						ATCATCATAAGGAAGAACATCT	0.411		NA											8	64					0	0	0	0
FOXN3	1112	broad.mit.edu	37	14	89878802	89878802	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:89878802G>A	uc001xxo.3	-	2	156	c.19C>T	c.(19-21)CCC>TCC	p.P7S	FOXN3_uc001xxn.3_Missense_Mutation_p.P7S|FOXN3_uc010atk.2_Missense_Mutation_p.P7S|FOXN3_uc001xxp.2_Missense_Mutation_p.P7S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	7					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						TTCTTACTGGGAGGCATGACT	0.512		NA											11	65					0	0	0	0
KCNK13	56659	broad.mit.edu	37	14	90650550	90650550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:90650550C>T	uc001xye.1	+	2	872	c.430C>T	c.(430-432)CTC>TTC	p.L144F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	144	Helical; (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GTTCTTCAACCTCTTCCTGGA	0.557		NA											20	110					0	0	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770131	91770132	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:91770131_91770132GG>AA	uc010aty.2	-	20	3647_3648	c.3548_3549CC>TT	c.(3547-3549)GCC>GTT	p.A1183V		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1183	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCTCGTACTCGGCCGATTGCCG	0.639		NA											13	16					0	0	0	0
CPSF2	53981	broad.mit.edu	37	14	92600677	92600677	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:92600677C>T	uc001yah.1	+	5	630	c.393C>T	c.(391-393)TTC>TTT	p.F131F		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	131					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AGCTAAAATTCTCTCAGATTG	0.333		NA											6	35					0	0	0	0
RIN3	79890	broad.mit.edu	37	14	93118295	93118295	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93118295C>T	uc001yap.2	+	6	1053	c.901C>T	c.(901-903)CCT>TCT	p.P301S	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P226S|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	301	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				ccctgtgctccctgctcttgc	0.254		NA											5	17					0	0	0	0
ITPK1	3705	broad.mit.edu	37	14	93483065	93483065	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:93483065C>T	uc001ybg.2	-	4	491	c.202G>A	c.(202-204)GAC>AAC	p.D68N	ITPK1_uc001ybe.2_Missense_Mutation_p.D68N|ITPK1_uc001ybf.2_5'UTR|ITPK1_uc001ybh.2_Missense_Mutation_p.D68N	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	68					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TCATTCTGGTCGGCTTCAAGG	0.597		NA											9	61					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94004455	94004455	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94004455G>A	uc001ybv.1	+	9	795	c.712G>A	c.(712-714)GAA>AAA	p.E238K	KIAA1409_uc001ybs.1_Missense_Mutation_p.E238K|KIAA1409_uc001ybu.1_Missense_Mutation_p.E176K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	415						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)		TCACAGTAATGAAGTGGGGGC	0.592		NA											18	49					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94041487	94041487	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94041487G>A	uc001ybv.1	+	14	1706	c.1623G>A	c.(1621-1623)CTG>CTA	p.L541L	KIAA1409_uc001ybs.1_Silent_p.L541L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	718						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)		TCAAAGAGCTGGCAAATCAAA	0.368		NA											23	30					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94149038	94149038	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94149038G>A	uc001ybv.1	+	41	6552	c.6469G>A	c.(6469-6471)GGA>AGA	p.G2157R	KIAA1409_uc001ybs.1_Missense_Mutation_p.G2135R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2312						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)		CTCTGTACCTGGAGTAAGTCC	0.269		NA											14	39					0	0	0	0
PRIMA1	145270	broad.mit.edu	37	14	94245575	94245576	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94245575_94245576GG>AA	uc001ybw.1	-	3	217_218	c.175_176CC>TT	c.(175-177)CCG>TTG	p.P59L	PRIMA1_uc001ybx.1_RNA	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1 precursor	59	PRAD.|Extracellular (Potential).				neurotransmitter catabolic process	cell junction|integral to membrane|synapse				large_intestine(1)|skin(1)	2		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		cgggggcagcgggggagggggc	0.356		NA											3	10					0	0	0	0
FAM181A	90050	broad.mit.edu	37	14	94395247	94395247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:94395247G>A	uc001ybz.1	+	3	1109	c.802G>A	c.(802-804)GGC>AGC	p.G268S	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.G206S|FAM181A_uc001yca.1_Missense_Mutation_p.G206S	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	268											0						CTCCTTGGTGGGCCGCGTCAA	0.647		NA											7	41					0	0	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030212	95030212	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95030212C>T	uc001ydk.2	+	2	459	c.393C>T	c.(391-393)CCC>CCT	p.P131P	SERPINA4_uc010avd.2_Silent_p.P168P|SERPINA4_uc001ydl.2_Silent_p.P131P	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	131					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TCAACCTCCCCGGCCATGGGC	0.582		NA											13	84					0	0	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053761	95053761	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:95053761G>A	uc001ydm.2	+	3	272	c.62G>A	c.(61-63)CGC>CAC	p.R21H	SERPINA5_uc010ave.2_Missense_Mutation_p.R21H|SERPINA5_uc001ydn.1_Missense_Mutation_p.R21H	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCCCTTCACCGCCACCACCCC	0.587		NA											20	111					0	0	0	0
TCL1B	9623	broad.mit.edu	37	14	96152888	96152888	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96152888G>A	uc001yez.2	+	1	126	c.84G>A	c.(82-84)GAG>GAA	p.E28E	TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.E28E	NM_004918	NP_004909	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	28										ovary(1)	1		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		AAGATGAGGAGGGGAGAACCT	0.642		NA											11	51					0	0	0	0
BDKRB2	624	broad.mit.edu	37	14	96707406	96707406	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96707406C>T	uc010avm.1	+	3	937	c.741C>T	c.(739-741)ATC>ATT	p.I247I	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.I220I|BDKRB2_uc001yfg.2_Silent_p.I247I	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	247	Helical; Name=5; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGATGCAGATCATGCAGGTGC	0.547		NA											15	26					0	0	0	0
BDKRB1	623	broad.mit.edu	37	14	96730397	96730397	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96730397C>T	uc001yfh.2	+	3	586	c.378C>T	c.(376-378)TTC>TTT	p.F126F	BDKRB1_uc010avn.2_Silent_p.F126F	NM_000710	NP_000701	P46663	BKRB1_HUMAN	bradykinin receptor B1	126	Helical; Name=3; (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)		TCAGCATCTTCCTGGTGGTGG	0.622		NA											25	88					0	0	0	0
AK7	122481	broad.mit.edu	37	14	96875277	96875277	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:96875277C>T	uc001yfn.2	+	4	541	c.497C>T	c.(496-498)CCC>CTC	p.P166L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	166	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCCTGGACCCCGTAAGTAGA	0.478		NA											17	48					0	0	0	0
EML1	2009	broad.mit.edu	37	14	100402648	100402648	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100402648C>T	uc001ygs.2	+	19	2141	c.2072C>T	c.(2071-2073)TCC>TTC	p.S691F	EML1_uc010tww.1_Missense_Mutation_p.S679F|EML1_uc001ygr.2_Missense_Mutation_p.S710F	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	691	WD 9.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGTCAAATTCCGGAGACTAC	0.502		NA											26	39					0	0	0	0
C14orf68	283600	broad.mit.edu	37	14	100795147	100795147	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:100795147G>A	uc001yhc.2	+	5	485	c.412G>A	c.(412-414)GCC>ACC	p.A138T	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	138	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GCGGCTTTCGGCCTCGGGGCC	0.682		NA											15	20					0	0	0	0
DLK1	8788	broad.mit.edu	37	14	101200538	101200538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:101200538C>T	uc001yhs.3	+	5	610	c.457C>T	c.(457-459)CAT>TAT	p.H153Y	DLK1_uc001yhu.3_Missense_Mutation_p.H153Y	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	153	Extracellular (Potential).|EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				CCGGGCCTCCCATGCCTCCTG	0.637		NA											18	74					0	0	0	0
WDR20	91833	broad.mit.edu	37	14	102675278	102675278	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:102675278G>T	uc001ykz.2	+	3	820	c.771G>T	c.(769-771)ACG>ACT	p.T257T	WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Silent_p.T133T|WDR20_uc001ylb.2_Silent_p.T196T|WDR20_uc010txu.1_Silent_p.T288T|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.T257T|WDR20_uc001yle.2_Silent_p.T196T|WDR20_uc001ylf.2_Silent_p.T269T	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	257	WD 2.										0						TGCACGGTACGATGAAAAGCT	0.557		NA											34	39					2.47e-13	2.55e-13	1	0
C14orf73	91828	broad.mit.edu	37	14	103566784	103566784	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:103566784C>T	uc001ymk.2	+	1	304	c.228C>T	c.(226-228)TTC>TTT	p.F76F		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	76											0		Melanoma(154;0.155)	Epithelial(46;0.221)			CGGGCCTGTTCCGGCGAAGCT	0.677		NA											3	22					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408933	105408933	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105408933G>A	uc010axc.1	-	7	12975	c.12855C>T	c.(12853-12855)TCC>TCT	p.S4285S	AHNAK2_uc001ypx.2_Silent_p.S4185S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4285						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCTAGGGACAGGTCAC	0.612		NA											128	257					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414531	105414532	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105414531_105414532GG>AA	uc010axc.1	-	7	7376_7377	c.7256_7257CC>TT	c.(7255-7257)CCC>CTT	p.P2419L	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2319L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2419						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTATCTGGGGGCCCTTGAG	0.639		NA											61	272					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417195	105417195	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105417195G>A	uc010axc.1	-	7	4713	c.4593C>T	c.(4591-4593)TCC>TCT	p.S1531S	AHNAK2_uc001ypx.2_Silent_p.S1431S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1531						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGGC	0.642		NA											19	197					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418185	105418185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr14:105418185G>A	uc010axc.1	-	7	3723	c.3603C>T	c.(3601-3603)TCC>TCT	p.S1201S	AHNAK2_uc001ypx.2_Silent_p.S1101S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1201						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCCTGCATGGAGGGGAGAC	0.642		NA											9	191					0	0	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:22368758C>T	uc010tzu.1	+	1	183	c.183C>T	c.(181-183)TTC>TTT	p.F61F	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATGTATTTCCTGTTGGCTA	0.388		NA											131	446					0	0	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889933	23889933	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:23889933C>T	uc001ywj.3	-	1	1243	c.1148G>A	c.(1147-1149)GGG>GAG	p.G383E		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGAGAGCTCCCTGGGCTTTC	0.642		NA											8	23					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922239	24922239	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922239G>A	uc001ywo.2	+	1	1699	c.1225G>A	c.(1225-1227)GAC>AAC	p.D409N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	409	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCAGACCACAGACTCCCTGCC	0.542		NA											11	65					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922337	24922337	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922337C>T	uc001ywo.2	+	1	1797	c.1323C>T	c.(1321-1323)ATC>ATT	p.I441I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	441	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCTGCCTATCCCTCCACTTT	0.532		NA											18	75					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922353	24922353	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:24922353A>C	uc001ywo.2	+	1	1813	c.1339A>C	c.(1339-1341)ACA>CCA	p.T447P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	447	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACTTTCCACCACACCAAAAAT	0.502		NA											15	95					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25925040	25925041	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25925040_25925041CC>TT	uc010ayu.2	-	21	4053_4054	c.3947_3948GG>AA	c.(3946-3948)AGG>AAA	p.R1316K		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACTGCATCTCCTGGGGGACTT	0.54		NA											13	101					0	0	0	0
ATP10A	57194	broad.mit.edu	37	15	25953190	25953191	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:25953190_25953191GG>AA	uc010ayu.2	-	12	2613_2614	c.2507_2508CC>TT	c.(2506-2508)TCC>TTT	p.S836F		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	836	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTTTTCCAGGGAGGATTCGGC	0.525		NA											20	47					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:26806283G>T	uc001zaz.2	-	8	1018	c.876C>A	c.(874-876)CAC>CAA	p.H292Q	GABRB3_uc010uae.1_Missense_Mutation_p.H207Q|GABRB3_uc001zba.2_Missense_Mutation_p.H292Q|GABRB3_uc001zbb.2_Missense_Mutation_p.H348Q	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	292	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCCGAAGGTGGGTGTTGA	0.473		NA											22	125					3.88e-16	4.02e-16	1	0
OCA2	4948	broad.mit.edu	37	15	28116344	28116344	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28116344G>A	uc001zbh.3	-	21	2310	c.2200C>T	c.(2200-2202)CTG>TTG	p.L734L	OCA2_uc010ayv.2_Silent_p.L710L	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	734	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GACGACGCCAGGGCTGAGACC	0.572		NA							Oculocutaneous_Albinism				16	65					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28358821	28358821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28358821G>A	uc001zbj.2	-	91	14023	c.13917C>T	c.(13915-13917)CTC>CTT	p.L4639L	HERC2_uc001zbi.2_Silent_p.L328L	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4639	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATTCATGGAGTCTGGAAG	0.537		NA											7	32					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28465693	28465693	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:28465693C>T	uc001zbj.2	-	37	5856	c.5750G>A	c.(5749-5751)AGG>AAG	p.R1917K		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1917	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCCATCCTGTAGGAGTT	0.597		NA											64	110					0	0	0	0
TJP1	7082	broad.mit.edu	37	15	30012590	30012590	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:30012590G>A	uc001zcr.2	-	19	3210	c.2735C>T	c.(2734-2736)TCC>TTC	p.S912F	TJP1_uc010azl.2_Missense_Mutation_p.S900F|TJP1_uc001zcq.2_Missense_Mutation_p.S916F|TJP1_uc001zcs.2_Missense_Mutation_p.S912F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	912					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AAATCCAGGGGAGTCTATTCT	0.423		NA											81	154					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34072526	34072526	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072526C>T	uc001zhi.2	+	65	9322	c.9252C>T	c.(9250-9252)ACC>ACT	p.T3084T	RYR3_uc010bar.2_Silent_p.T3084T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3084					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACACCAAAACCCCCAGGGAGA	0.557		NA											5	27					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34072528	34072528	+	Missense_Mutation	SNP	C	C	T	rs61996335	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:34072528C>T	uc001zhi.2	+	65	9324	c.9254C>T	c.(9253-9255)CCC>CTC	p.P3085L	RYR3_uc010bar.2_Missense_Mutation_p.P3085L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3085					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAAAACCCCCAGGGAGAGG	0.562		NA											4	28					0	0	0	0
C15orf52	388115	broad.mit.edu	37	15	40627527	40627528	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40627527_40627528CT>TC	uc001zlh.3	-	11	1452_1453	c.1436_1437AG>GA	c.(1435-1437)CAG>CGA	p.Q479R	C15orf52_uc010ucn.1_Missense_Mutation_p.Q269R	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	479										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCCTCTCTGTGGCTCAGG	0.663		NA											36	58					0	0	0	0
DISP2	85455	broad.mit.edu	37	15	40659297	40659297	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40659297G>A	uc001zlk.1	+	8	1073	c.984G>A	c.(982-984)CGG>CGA	p.R328R		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	328					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGTGCCAGCGGACAGCAGCCA	0.637		NA											9	49					0	0	0	0
C15orf23	90417	broad.mit.edu	37	15	40675113	40675113	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40675113C>T	uc001zll.2	+	1	192	c.77C>T	c.(76-78)CCA>CTA	p.P26L	C15orf23_uc010ucp.1_Missense_Mutation_p.P26L|C15orf23_uc001zlo.2_Missense_Mutation_p.P26L|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	26						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GATTCCCACCCACTTCCGCCT	0.567		NA											30	41					0	0	0	0
BAHD1	22893	broad.mit.edu	37	15	40751119	40751119	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40751119C>T	uc001zlu.2	+	2	527	c.456C>T	c.(454-456)CAC>CAT	p.H152H	BAHD1_uc001zlt.2_Silent_p.H152H|BAHD1_uc010bbp.1_Silent_p.H152H|BAHD1_uc001zlv.2_Silent_p.H152H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	152					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGATCCCCACCGCAGCCGTG	0.662		NA											23	32					0	0	0	0
CASC5	57082	broad.mit.edu	37	15	40915395	40915396	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40915395_40915396CC>TT	uc010bbs.1	+	11	3172_3173	c.3011_3012CC>TT	c.(3010-3012)TCC>TTT	p.S1004F	CASC5_uc010ucq.1_Missense_Mutation_p.S828F|CASC5_uc001zme.2_Missense_Mutation_p.S978F|CASC5_uc010bbt.1_Missense_Mutation_p.S978F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1004	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTTGAACTATCCCAAAGGAAAA	0.391		NA											4	56					0	0	0	0
CASC5	57082	broad.mit.edu	37	15	40917521	40917521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:40917521C>T	uc010bbs.1	+	11	5298	c.5137C>T	c.(5137-5139)CAG>TAG	p.Q1713*	CASC5_uc010ucq.1_Nonsense_Mutation_p.Q1537*|CASC5_uc001zme.2_Nonsense_Mutation_p.Q1687*|CASC5_uc010bbt.1_Nonsense_Mutation_p.Q1687*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	1713					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGAAACTCAGCCGGTCTC	0.398		NA											15	105					0	0	0	0
VPS18	57617	broad.mit.edu	37	15	41191637	41191637	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41191637C>T	uc001zne.2	+	4	960	c.621C>T	c.(619-621)TCC>TCT	p.S207S		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	207					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612		NA											31	118					0	0	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41687185	41687185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41687185G>A	uc001znx.2	-	3	1013	c.631C>T	c.(631-633)CGT>TGT	p.R211C	NDUFAF1_uc010bcf.2_RNA	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	211					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			ovary(1)	1		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCACGTACACGGAGATACAGA	0.433		NA											35	35					0	0	0	0
LTK	4058	broad.mit.edu	37	15	41805298	41805298	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:41805298G>A	uc001zoa.3	-	2	242	c.64C>T	c.(64-66)CCG>TCG	p.P22S	LTK_uc001zob.3_Missense_Mutation_p.P22S|LTK_uc010ucx.1_Missense_Mutation_p.P22S|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	22	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGGGACCCCGGGCTAGAGCAG	0.612		NA								TSP Lung(18;0.14)			11	9					0	0	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138473	42138474	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42138473_42138474CC>TT	uc010bco.2	+	17	1774_1775	c.1673_1674CC>TT	c.(1672-1674)ACC>ATT	p.T558I	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T789I|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.T259I|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	558	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GAGTTTTTCACCGATCTTCTGA	0.535		NA											19	131					0	0	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149210	42149210	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42149210C>T	uc001zos.2	-	52	8877	c.8544G>A	c.(8542-8544)CAG>CAA	p.Q2848Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2883	Spectrin 25.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTGCGCTCCTGCAGGGGCT	0.647		NA											3	7					0	0	0	0
EHD4	30844	broad.mit.edu	37	15	42192957	42192957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:42192957G>A	uc001zot.2	-	6	1575	c.1512C>T	c.(1510-1512)TTC>TTT	p.F504F		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	504	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGGCCAGCGCGAACTCCTCCT	0.637		NA											11	38					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43815393	43815393	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43815393G>A	uc001zrt.2	+	4	2189	c.1722G>A	c.(1720-1722)CAG>CAA	p.Q574Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	574						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCTATCCAGGGAACACCAC	0.542		NA											33	34					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43819158	43819158	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:43819158G>A	uc001zrt.2	+	4	5954	c.5487G>A	c.(5485-5487)ATG>ATA	p.M1829I		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1829						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACACATGAAGAATGAAC	0.602		NA											29	105					0	0	0	0
SPG11	80208	broad.mit.edu	37	15	44881481	44881481	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44881481G>A	uc001ztx.2	-	28	4906	c.4875C>T	c.(4873-4875)CTC>CTT	p.L1625L	SPG11_uc010ueh.1_Silent_p.L1625L|SPG11_uc010uei.1_Silent_p.L1625L|SPG11_uc001zty.1_Silent_p.L354L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1625	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCAACAAAGAGCTGTAAAA	0.408		NA											16	77					0	0	0	0
C15orf48	84419	broad.mit.edu	37	15	45723009	45723009	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45723009A>G	uc001zvg.2	+	2	133	c.15A>G	c.(13-15)CAA>CAG	p.Q5Q	C15orf48_uc001zvh.2_Silent_p.Q5Q|MIR147B_hsa-mir-147b|MI0005544_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	normal mucosa of esophagus specific 1	5						nucleus				ovary(1)	1		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		GCTTTTTCCAACTCCTGATGA	0.368		NA									OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	0	0
SLC30A4	7782	broad.mit.edu	37	15	45803391	45803391	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:45803391C>A	uc001zvj.2	-	3	795	c.483G>T	c.(481-483)TTG>TTT	p.L161F	C15orf21_uc001zvk.2_RNA|C15orf21_uc010beg.1_RNA|C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	161	Helical; (Potential).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGATAGCCACAAAGCAAGCA	0.373		NA											43	332					1.01e-21	1.05e-21	1	0
SEMA6D	80031	broad.mit.edu	37	15	48058129	48058129	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48058129C>T	uc010bek.2	+	14	1851	c.1491C>T	c.(1489-1491)CAC>CAT	p.H497H	SEMA6D_uc001zvw.2_Silent_p.H497H|SEMA6D_uc001zvy.2_Silent_p.H497H|SEMA6D_uc001zvz.2_Silent_p.H497H|SEMA6D_uc001zwa.2_Silent_p.H497H|SEMA6D_uc001zwb.2_Silent_p.H497H|SEMA6D_uc001zwc.2_Silent_p.H497H	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	497	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGATCACCACGCTTTATATG	0.413		NA											21	97					0	0	0	0
MYEF2	50804	broad.mit.edu	37	15	48460949	48460949	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:48460949A>T	uc001zwi.3	-	2	373	c.249T>A	c.(247-249)TAT>TAA	p.Y83*	MYEF2_uc001zwj.3_Nonsense_Mutation_p.Y83*|MYEF2_uc001zwl.2_5'UTR	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	83					transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTCTTTTGAATAAGGATGAA	0.363		NA											16	94					0	0	0	0
CEP152	22995	broad.mit.edu	37	15	49030960	49030960	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49030960G>A	uc001zwy.2	-	26	4485	c.4451C>T	c.(4450-4452)CCA>CTA	p.P1484L	CEP152_uc001zwz.2_Missense_Mutation_p.P1540L	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1484					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTAGTGGATTGCATTT	0.418		NA											10	87					0	0	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49284871	49284871	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49284871G>T	uc001zxe.1	-	18	3010	c.2876C>A	c.(2875-2877)ACA>AAA	p.T959K	SECISBP2L_uc001zxd.1_Missense_Mutation_p.T914K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	959										breast(1)|skin(1)	2						GCCAGTCTCTGTACTCTGCTG	0.478		NA											19	94					3.33e-07	3.4e-07	1	0
COPS2	9318	broad.mit.edu	37	15	49436470	49436470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49436470C>T	uc001zxf.2	-	3	279	c.200G>A	c.(199-201)TGG>TAG	p.W67*	COPS2_uc001zxh.2_Nonsense_Mutation_p.W67*|COPS2_uc010ufa.1_Intron	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	67					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289		NA											31	63					0	0	0	0
C15orf33	196951	broad.mit.edu	37	15	49800528	49800528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:49800528C>T	uc001zxl.2	-	11	1186	c.892G>A	c.(892-894)GGC>AGC	p.G298S	C15orf33_uc001zxm.2_Missense_Mutation_p.G264S	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	298										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		ATCCAAAAGCCTTTTTGAGGT	0.313		NA											10	112					0	0	0	0
CYP19A1	1588	broad.mit.edu	37	15	51534993	51534993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:51534993C>T	uc001zyz.3	-	3	368	c.117G>A	c.(115-117)TGG>TGA	p.W39*	CYP19A1_uc001zza.3_Nonsense_Mutation_p.W39*|CYP19A1_uc001zzb.2_Nonsense_Mutation_p.W39*|CYP19A1_uc001zzd.2_Nonsense_Mutation_p.W39*|CYP19A1_uc010bey.1_Nonsense_Mutation_p.W39*|CYP19A1_uc001zze.1_RNA	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	39					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CCTCATAATTCCACACCAAGA	0.443		NA											34	30					0	0	0	0
WDR72	256764	broad.mit.edu	37	15	53901735	53901735	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:53901735G>A	uc002acj.2	-	17	2969	c.2927C>T	c.(2926-2928)TCC>TTC	p.S976F		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	976										lung(1)|skin(1)	2				all cancers(107;0.0511)		TCTCCAACAGGAAATTAGCTT	0.388		NA											14	33					0	0	0	0
RFX7	64864	broad.mit.edu	37	15	56535387	56535387	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56535387G>A	uc010bfn.2	-	1	97	c.97C>T	c.(97-99)CTT>TTT	p.L33F		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						CCGGGCACAAGGGCTGGCAGG	0.637		NA											3	19					0	0	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981653	56981653	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56981653G>A	uc002adu.2	-	8	732	c.515C>T	c.(514-516)TCA>TTA	p.S172L	ZNF280D_uc002adv.2_Missense_Mutation_p.S159L|ZNF280D_uc010bfq.2_Missense_Mutation_p.S172L|ZNF280D_uc002adw.1_Missense_Mutation_p.S200L|ZNF280D_uc010bfr.1_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATAAAAATGAACTTTCACT	0.274		NA											4	42					0	0	0	0
RNF111	54778	broad.mit.edu	37	15	59383308	59383308	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59383308C>T	uc002afv.2	+	12	2973	c.2694C>T	c.(2692-2694)TCC>TCT	p.S898S	RNF111_uc002afs.2_Silent_p.S898S|RNF111_uc002aft.2_Silent_p.S907S|RNF111_uc002afu.2_Silent_p.S897S|RNF111_uc002afw.2_Silent_p.S907S|RNF111_uc002afx.2_Silent_p.S424S|RNF111_uc002afy.2_Silent_p.S49S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	898					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		GTGGAGCATCCCAGGGGACAA	0.338		NA											29	169					0	0	0	0
FAM81A	145773	broad.mit.edu	37	15	59752317	59752317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:59752317G>A	uc002agc.2	+	3	393	c.206G>A	c.(205-207)GGG>GAG	p.G69E	FAM81A_uc010uha.1_Missense_Mutation_p.G69E	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	hypothetical protein LOC145773	69										ovary(1)	1						CAAAACAAAGGGGGAGGTGAC	0.478		NA											26	125					0	0	0	0
VPS13C	54832	broad.mit.edu	37	15	62165597	62165597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:62165597C>T	uc002agz.2	-	78	10500	c.10426G>A	c.(10426-10428)GGA>AGA	p.G3476R	VPS13C_uc002aha.2_Missense_Mutation_p.G3433R|VPS13C_uc002ahb.1_Missense_Mutation_p.G3476R|VPS13C_uc002ahc.1_Missense_Mutation_p.G3433R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3476					protein localization					ovary(2)	2						GATACAACTCCTGCTGCacca	0.234		NA											24	183					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	63943520	63943520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:63943520G>A	uc002amp.2	-	53	10626	c.10478C>T	c.(10477-10479)TCC>TTC	p.S3493F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3493	WD 5.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GATACTCCAGGAAACTGGTGA	0.438		NA											31	78					0	0	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622173	65622173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:65622173C>T	uc002aos.2	-	12	2140	c.1888G>A	c.(1888-1890)GAG>AAG	p.E630K	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	630	Extracellular (Potential).									ovary(3)	3						GCGGCCTCCTCCTTCCGGCAG	0.612		NA											15	61					0	0	0	0
LBXCOR1	390598	broad.mit.edu	37	15	68118621	68118621	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:68118621G>A	uc002aqy.1	+	2	428	c.428G>A	c.(427-429)GGC>GAC	p.G143D		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	152					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						CGCCGCTGCGGCATGATCACT	0.662		NA											20	54					0	0	0	0
KIF23	9493	broad.mit.edu	37	15	69714072	69714072	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:69714072C>T	uc002asb.2	+	4	414	c.297C>T	c.(295-297)GAC>GAT	p.D99D	KIF23_uc002asc.2_Silent_p.D99D|KIF23_uc010bii.2_Missense_Mutation_p.T35I|KIF23_uc010ukc.1_5'Flank|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	99	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TGGTCAATGACCTCATTCATG	0.353		NA											13	99					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72141213	72141213	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:72141213G>T	uc002atl.3	-	39	7283	c.6810C>A	c.(6808-6810)ACC>ACA	p.T2270T	MYO9A_uc002atj.2_Silent_p.T183T|MYO9A_uc002atk.2_Silent_p.T1065T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2270	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						GTGACAACCTGGTCTTTGCCT	0.383		NA											14	75					2.63e-14	2.72e-14	1	0
BBS4	585	broad.mit.edu	37	15	73028232	73028232	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028232C>A	uc002avb.2	+	14	1216	c.1173C>A	c.(1171-1173)GCC>GCA	p.A391A	BBS4_uc010ukv.1_Silent_p.A379A|BBS4_uc002avc.2_Silent_p.A219A|BBS4_uc002avd.2_Silent_p.A399A	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	TPR 10.|Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						AGAAGAACGCCCTGGCCCAAT	0.483		NA							Bardet-Biedl_syndrome				30	149					1.89e-17	1.96e-17	1	0
BBS4	585	broad.mit.edu	37	15	73028238	73028238	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:73028238C>T	uc002avb.2	+	14	1222	c.1179C>T	c.(1177-1179)GCC>GCT	p.A393A	BBS4_uc010ukv.1_Silent_p.A381A|BBS4_uc002avc.2_Silent_p.A221A|BBS4_uc002avd.2_Silent_p.A401A	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	TPR 10.|Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						ACGCCCTGGCCCAATATCAGG	0.463		NA							Bardet-Biedl_syndrome				81	91					0	0	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365149	74365149	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74365149C>T	uc002axa.1	-	13	1476	c.1435G>A	c.(1435-1437)GAA>AAA	p.E479K		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	479	Potential.										0						CTGGCAGCTTCTAGGTGCTCC	0.617		NA											18	102					0	0	0	0
ISLR2	57611	broad.mit.edu	37	15	74425963	74425963	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74425963G>A	uc002axd.2	+	4	1637	c.868G>A	c.(868-870)GGG>AGG	p.G290R	ISLR2_uc002axe.2_Missense_Mutation_p.G290R|ISLR2_uc010bjg.2_Missense_Mutation_p.G290R|ISLR2_uc010bjf.2_Missense_Mutation_p.G290R	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	290	Ig-like.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GGTTCTGAGCggggaggacga	0.458		NA											4	21					0	0	0	0
ISLR2	57611	broad.mit.edu	37	15	74427025	74427025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74427025G>A	uc002axd.2	+	4	2699	c.1930G>A	c.(1930-1932)GAC>AAC	p.D644N	ISLR2_uc002axe.2_Missense_Mutation_p.D644N|ISLR2_uc010bjg.2_Missense_Mutation_p.D644N|ISLR2_uc010bjf.2_Missense_Mutation_p.D644N	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	644	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CATCGCCGCAGACTTCGACCC	0.687		NA									OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	47					0	0	0	0
ISLR	3671	broad.mit.edu	37	15	74467477	74467477	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74467477C>T	uc002axg.1	+	2	560	c.278C>T	c.(277-279)GCC>GTC	p.A93V	ISLR_uc002axh.1_Missense_Mutation_p.A93V	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	93	LRR 2.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GCCGCCGGAGCCCTGGCCTCT	0.632		NA											6	50					0	0	0	0
CCDC33	80125	broad.mit.edu	37	15	74565168	74565168	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:74565168C>T	uc002axo.2	+	7	1089	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CCDC33_uc002axp.2_Missense_Mutation_p.S54F	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	435							protein binding			ovary(3)|skin(2)	5						ACCCCACTGTCCTTCCCTATC	0.617		NA											16	76					0	0	0	0
C15orf39	56905	broad.mit.edu	37	15	75503393	75503393	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75503393C>T	uc002azp.3	+	3	3400	c.3080C>T	c.(3079-3081)TCC>TTC	p.S1027F	C15orf39_uc002azq.3_Missense_Mutation_p.S1027F|C15orf39_uc002azr.3_3'UTR	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	1027											0						GGCCACAAGTCCTCAAGACCA	0.637		NA											7	30					0	0	0	0
SIN3A	25942	broad.mit.edu	37	15	75702498	75702498	+	Silent	SNP	G	G	A	rs139503359		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:75702498G>A	uc002bai.2	-	7	1397	c.1138C>T	c.(1138-1140)CTA>TTA	p.L380L	SIN3A_uc002baj.2_Silent_p.L380L|SIN3A_uc010uml.1_Silent_p.L380L	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	380	PAH 2.|Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						GCATCTGGTAGGAATTGTCCA	0.403		NA											20	109					0	0	0	0
LINGO1	84894	broad.mit.edu	37	15	77906818	77906818	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:77906818G>A	uc002bct.1	-	2	1483	c.1431C>T	c.(1429-1431)TTC>TTT	p.F477F	LINGO1_uc002bcu.1_Silent_p.F471F	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	477	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						TGCCATCAGGGAAGACTGTGA	0.677		NA											6	40					0	0	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750223	79750223	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:79750223G>A	uc002bew.1	+	2	1809	c.1734G>A	c.(1732-1734)AAG>AAA	p.K578K	KIAA1024_uc010unk.1_Silent_p.K578K	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	578						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						AGGGAGACAAGGGCAACCGGC	0.522		NA											42	32					0	0	0	0
IL16	3603	broad.mit.edu	37	15	81584977	81584977	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:81584977C>T	uc002bgh.3	+	12	1877	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.R501C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.R543C|IL16_uc002bgg.2_Missense_Mutation_p.R501C|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_5'UTR|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	501					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						ACCCCCGCATCGCAGGGCTCA	0.602		NA											15	58					0	0	0	0
CPEB1	64506	broad.mit.edu	37	15	83226687	83226688	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83226687_83226688GG>AA	uc002bit.2	-	4	745_746	c.608_609CC>TT	c.(607-609)CCC>CTT	p.P203L	CPEB1_uc002biq.2_Missense_Mutation_p.P68L|CPEB1_uc002bir.2_Missense_Mutation_p.P68L|CPEB1_uc002bis.2_Missense_Mutation_p.P68L|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.P146L|CPEB1_uc002biu.2_Missense_Mutation_p.P170L|CPEB1_uc010uof.1_Missense_Mutation_p.P68L|CPEB1_uc002biv.2_Missense_Mutation_p.P143L|CPEB1_uc002bip.2_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	143					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGCTCAAGGGGGGTTTTCC	0.53		NA											48	33					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83331552	83331552	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83331552G>A	uc010uoh.1	-	22	2847	c.2670C>T	c.(2668-2670)TCC>TCT	p.S890S	AP3B2_uc010uoi.1_Silent_p.S909S|AP3B2_uc010uoj.1_Silent_p.S858S|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.S526S	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	890					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGTGCACGGACACCATGT	0.612		NA											25	8					0	0	0	0
AP3B2	8120	broad.mit.edu	37	15	83335576	83335576	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:83335576C>T	uc010uoh.1	-	15	1952	c.1775G>A	c.(1774-1776)GGT>GAT	p.G592D	AP3B2_uc010uoi.1_Missense_Mutation_p.G592D|AP3B2_uc010uoj.1_Missense_Mutation_p.G560D|AP3B2_uc010uog.1_Missense_Mutation_p.G228D	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	592					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGGGCCCCACCCTGCTCGGA	0.572		NA											33	65					0	0	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84568476	84568476	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:84568476G>A	uc002bjz.3	+	15	1917	c.1693G>A	c.(1693-1695)GAA>AAA	p.E565K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E565K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E565K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	565	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCAACAGAAGAACCAACGTG	0.373		NA											11	3					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85382230	85382230	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:85382230G>T	uc002ble.2	+	4	1097	c.930G>T	c.(928-930)GTG>GTT	p.V310V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	310	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCCAGAGGTGACCTGGTACA	0.458		NA											12	20					1.5e-05	1.52e-05	1	0
C15orf42	90381	broad.mit.edu	37	15	90167625	90167625	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90167625C>T	uc002boe.2	+	20	4084	c.4084C>T	c.(4084-4086)CCT>TCT	p.P1362S	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1362	Pro-rich.				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCAACTCCCCCTGAACTCTC	0.532		NA											41	115					0	0	0	0
SEMA4B	10509	broad.mit.edu	37	15	90770854	90770854	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:90770854C>T	uc002boy.2	+	14	2037	c.1754C>T	c.(1753-1755)TCC>TTC	p.S585F	SEMA4B_uc002boz.2_Missense_Mutation_p.S585F|SEMA4B_uc010uqd.1_Missense_Mutation_p.S423F|SEMA4B_uc002bpa.2_Missense_Mutation_p.S423F|SEMA4B_uc010bnv.1_Missense_Mutation_p.S223F	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCGGTTGTGTCCCCGTCTTTT	0.592		NA											16	40					0	0	0	0
CHD2	1106	broad.mit.edu	37	15	93527664	93527665	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:93527664_93527665GG>AA	uc002bsp.2	+	25	3746_3747	c.3171_3172GG>AA	c.(3169-3174)GAGGAA>GAAAAA	p.E1058K	CHD2_uc002bso.1_Missense_Mutation_p.E1058K	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1058	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGTAGAGGAGGAAGAGCGGCA	0.416		NA											26	7					0	0	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:97326937G>A	uc002bue.2	+	1	262	c.52G>A	c.(52-54)GAA>AAA	p.E18K	uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552		NA											21	47					0	0	0	0
IGF1R	3480	broad.mit.edu	37	15	99467122	99467122	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:99467122C>T	uc002bul.2	+	12	2553	c.2503C>T	c.(2503-2505)CCT>TCT	p.P835S	IGF1R_uc010bon.2_Missense_Mutation_p.P835S|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	835	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AGATGACATTCCTGGGCCAGT	0.473		NA											47	25					0	0	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100514651	100514651	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:100514651C>T	uc002bvv.1	-	22	3323	c.3244G>A	c.(3244-3246)GAC>AAC	p.D1082N	ADAMTS17_uc002bvw.1_RNA	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1082	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCATAGAAGTCCCTGCAGGTC	0.587		NA											8	55					0	0	0	0
LRRK1	79705	broad.mit.edu	37	15	101528995	101528996	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101528995_101528996CC>TT	uc002bwr.2	+	5	909_910	c.590_591CC>TT	c.(589-591)CCC>CTT	p.P197L	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P197L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	197	ANK 4.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCGCTTGCCCCTGTATGCGG	0.589		NA											14	7					0	0	0	0
LRRK1	79705	broad.mit.edu	37	15	101592030	101592030	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101592030T>G	uc002bwr.2	+	24	3873	c.3554T>G	c.(3553-3555)GTG>GGG	p.V1185G	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1185					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGAGGATGTGCAGTACTTC	0.642		NA											11	25					0	0	0	0
LRRK1	79705	broad.mit.edu	37	15	101606368	101606368	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101606368C>T	uc002bwr.2	+	32	6045	c.5726C>T	c.(5725-5727)GCC>GTC	p.A1909V	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1909					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACCTGCAGGCCGTGAAGATC	0.637		NA											14	68					0	0	0	0
PCSK6	5046	broad.mit.edu	37	15	101906410	101906410	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:101906410C>T	uc002bwy.2	-	14	2163	c.1849G>A	c.(1849-1851)GAG>AAG	p.E617K	PCSK6_uc010bpd.2_Missense_Mutation_p.E413K|PCSK6_uc010bpe.2_Missense_Mutation_p.E617K|PCSK6_uc002bxa.2_Missense_Mutation_p.E617K|PCSK6_uc002bxb.2_Missense_Mutation_p.E617K|PCSK6_uc002bxc.1_Missense_Mutation_p.E617K|PCSK6_uc002bxd.1_Missense_Mutation_p.E617K|PCSK6_uc002bxe.2_Missense_Mutation_p.E617K|PCSK6_uc002bxf.1_Missense_Mutation_p.E117K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	617	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTTGCTTCTCCGGGTTGCGG	0.488		NA											8	18					0	0	0	0
AXIN1	8312	broad.mit.edu	37	16	343668	343668	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:343668G>A	uc002cgp.1	-	8	2183	c.2006C>T	c.(2005-2007)TCC>TTC	p.S669F	AXIN1_uc002cgq.1_Missense_Mutation_p.S669F	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	669	Interaction with RNF111.|Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GTGCTCAAGGGACAAGGGTCT	0.642		NA											58	113					0	0	0	0
AXIN1	8312	broad.mit.edu	37	16	396971	396971	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:396971C>T	uc002cgp.1	-	2	232	c.55G>A	c.(55-57)GAT>AAT	p.D19N	AXIN1_uc002cgq.1_Missense_Mutation_p.D19N	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	19					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGGGAGCATCTTCGGTGAAA	0.567		NA											32	54					0	0	0	0
MSLNL	401827	broad.mit.edu	37	16	819554	819554	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:819554C>T	uc002cjz.1	-	16	3036	c.3036G>A	c.(3034-3036)GGG>GGA	p.G1012G	MIR662_hsa-mir-662|MI0003670_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	661	Helical; (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4						GGATGCAAGTCCCCCAGTGCA	0.632		NA											8	41					0	0	0	0
MSLNL	401827	broad.mit.edu	37	16	830222	830222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:830222C>T	uc002cjz.1	-	3	779	c.779G>A	c.(778-780)TGG>TAG	p.W260*		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						ATCCGGGTCCCAGGGTGGACC	0.672		NA											7	11					0	0	0	0
PRR25	388199	broad.mit.edu	37	16	863384	863384	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:863384C>T	uc010uut.1	+	3	732	c.732C>T	c.(730-732)ATC>ATT	p.I244I		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	244										large_intestine(1)	1						GCCTCCCCATCCCTGGGTCCA	0.697		NA											3	6					0	0	0	0
ZNF598	90850	broad.mit.edu	37	16	2049627	2049627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2049627G>A	uc002cof.1	-	11	1938	c.1923C>T	c.(1921-1923)GCC>GCT	p.A641A	ZNF598_uc002coe.1_Silent_p.A5A	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	641	Pro-rich.					intracellular	zinc ion binding			lung(1)|breast(1)	2						TCCGAGCAGGGGCCGGGCCCT	0.711		NA											6	27					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2158531	2158532	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158531_2158532GG>AA	uc002cos.1	-	15	6845_6846	c.6636_6637CC>TT	c.(6634-6639)AGCCGG>AGTTGG	p.R2213W	PKD1_uc002cot.1_Missense_Mutation_p.R2213W	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2213	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCCGAGGCCGGCTCACGTCCA	0.678		NA											11	23					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2158553	2158553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2158553G>A	uc002cos.1	-	15	6824	c.6615C>T	c.(6613-6615)GCC>GCT	p.A2205A	PKD1_uc002cot.1_Silent_p.A2205A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2205	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGCCGGGCAGGGCCACACGCG	0.687		NA											5	21					0	0	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546623	2546623	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2546623C>T	uc002cql.2	+	2	614	c.474C>T	c.(472-474)ATC>ATT	p.I158I	TBC1D24_uc002cqk.2_Silent_p.I158I|TBC1D24_uc002cqm.2_Silent_p.I158I|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	158	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						CCTGCCGCATCCTGGCCTGCA	0.642		NA											10	26					0	0	0	0
PDPK1	5170	broad.mit.edu	37	16	2607890	2607890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2607890C>T	uc002cqs.2	+	2	355	c.211C>T	c.(211-213)CCG>TCG	p.P71S	PDPK1_uc002cqt.2_Missense_Mutation_p.P71S|PDPK1_uc010bsn.2_Missense_Mutation_p.P71S|PDPK1_uc002cqu.2_Missense_Mutation_p.P44S|PDPK1_uc002cqv.1_Missense_Mutation_p.P44S|PDPK1_uc010uwe.1_Missense_Mutation_p.P71S|uc010bso.1_5'Flank	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	71					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)	TGCCCAGCCTCCGCCGCAGCC	0.657		NA											4	53					0	0	0	0
SRRM2	23524	broad.mit.edu	37	16	2813122	2813122	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2813122G>T	uc002crk.2	+	11	3142	c.2593G>T	c.(2593-2595)GTA>TTA	p.V865L	SRRM2_uc002crj.1_Missense_Mutation_p.V769L|SRRM2_uc002crl.1_Missense_Mutation_p.V865L|SRRM2_uc010bsu.1_Missense_Mutation_p.V769L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	865	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TGAGCAATCTGTAACGCCACA	0.493		NA											51	92					3.11e-30	3.24e-30	1	0
FLYWCH2	114984	broad.mit.edu	37	16	2946651	2946651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:2946651C>T	uc002csa.2	+	3	572	c.201C>T	c.(199-201)TCC>TCT	p.S67S	FLYWCH2_uc010uwj.1_Silent_p.S67S|FLYWCH2_uc010uwk.1_Silent_p.S67S	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	67											0						GTGTCATGTCCCTGGGGGTGC	0.667		NA											33	52					0	0	0	0
CCDC64B	146439	broad.mit.edu	37	16	3079404	3079404	+	Silent	SNP	C	C	T	rs113579453		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3079404C>T	uc002ctf.3	-	6	1029	c.984G>A	c.(982-984)AAG>AAA	p.K328K	CCDC64B_uc002cte.3_Silent_p.K121K	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	328											0						GGCTGGACGCCTTTCGGGTCT	0.592		NA											6	24					0	0	0	0
ZNF174	7727	broad.mit.edu	37	16	3458635	3458635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3458635C>T	uc002cvc.2	+	3	1755	c.940C>T	c.(940-942)CTT>TTT	p.L314F		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	314					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						TTTGCAACATCTTGGTCACCA	0.493		NA											17	68					0	0	0	0
NLRC3	197358	broad.mit.edu	37	16	3613075	3613075	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3613075G>A	uc010btn.2	-	5	2274	c.1863C>T	c.(1861-1863)TCC>TCT	p.S621S		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	621	LRR 1.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TGAGGCTCAGGGACAGGTTGG	0.706		NA											3	6					0	0	0	0
NLRC3	197358	broad.mit.edu	37	16	3614430	3614430	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3614430C>T	uc010btn.2	-	5	919	c.508G>A	c.(508-510)GAC>AAC	p.D170N		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	170	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AGCGAGAAGTCCTTGCCGACC	0.657		NA											4	50					0	0	0	0
BTBD12	84464	broad.mit.edu	37	16	3639210	3639210	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:3639210G>A	uc002cvp.2	-	12	5056	c.4429C>T	c.(4429-4431)CCC>TCC	p.P1477S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1477	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCTCGGATGGGGGTGGTGTCC	0.662		NA						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				43	223					0	0	0	0
GLIS2	84662	broad.mit.edu	37	16	4385175	4385176	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:4385175_4385176GG>AT	uc002cwc.1	+	4	694_695	c.637_638GG>AT	c.(637-639)GGC>ATC	p.G213I		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	213	C2H2-type 2; atypical.				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CGCCCGCCATGGCCGAGGTTTC	0.653		NA											23	50					0	0	0	0
SEC14L5	9717	broad.mit.edu	37	16	5055947	5055947	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5055947G>A	uc002cye.2	+	12	1515	c.1335G>A	c.(1333-1335)CGG>CGA	p.R445R		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	445	CRAL-TRIO.					integral to membrane|intracellular	transporter activity				0						ACACCAGGCGGAAGTTCCTCA	0.433		NA											7	14					0	0	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058637	5058637	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:5058637G>A	uc002cye.2	+	14	1968	c.1788G>A	c.(1786-1788)GGG>GGA	p.G596G		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	596	GOLD.					integral to membrane|intracellular	transporter activity				0						GCCGGGAGGGGGAGAGCATCC	0.423		NA											36	64					0	0	0	0
ABAT	18	broad.mit.edu	37	16	8862733	8862734	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:8862733_8862734CC>TT	uc002czc.3	+	11	885_886	c.719_720CC>TT	c.(718-720)TCC>TTT	p.S240F	ABAT_uc002czd.3_Missense_Mutation_p.S240F|ABAT_uc010buh.2_Missense_Mutation_p.S182F|ABAT_uc010bui.2_Missense_Mutation_p.S240F	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	240					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GACATCCCTTCCTTTGACTGGC	0.53		NA											117	221					0	0	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892181	9892181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:9892181G>A	uc002czo.3	-	11	2857	c.2309C>T	c.(2308-2310)CCT>CTT	p.P770L	GRIN2A_uc010uym.1_Missense_Mutation_p.P770L|GRIN2A_uc010uyn.1_Missense_Mutation_p.P613L|GRIN2A_uc002czr.3_Missense_Mutation_p.P770L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	770	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTTCCAAGGAGAGCCTTT	0.557		NA											18	40					0	0	0	0
NUBP1	4682	broad.mit.edu	37	16	10851749	10851749	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10851749C>T	uc002daa.1	+	7	494	c.471C>T	c.(469-471)CTC>CTT	p.L157L	NUBP1_uc010bum.1_Silent_p.L22L|NUBP1_uc002dab.1_Silent_p.L146L	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	157					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						AGCAGTTCCTCCGAGATGTGG	0.488		NA											9	128					0	0	0	0
CIITA	4261	broad.mit.edu	37	16	10989224	10989224	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:10989224C>T	uc002dai.3	+	2	271	c.138C>T	c.(136-138)TGC>TGT	p.C46C	CIITA_uc002daj.3_Silent_p.C46C|CIITA_uc002dak.3_Silent_p.C46C|CIITA_uc002dag.2_Silent_p.C46C|CIITA_uc002dah.2_Silent_p.C46C|CIITA_uc010bup.1_Silent_p.C46C	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	46					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						ACCCCCTGTGCCTCTACCACT	0.582		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								7	26					0	0	0	0
CIITA	4261	broad.mit.edu	37	16	11001414	11001414	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11001414G>A	uc002dai.3	+	11	2198	c.2065G>A	c.(2065-2067)GCG>ACG	p.A689T	CIITA_uc002daj.3_Missense_Mutation_p.A690T|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A689T|CIITA_uc002dah.2_Missense_Mutation_p.A641T|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	689	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GAGGACCTGGGCGATGGCCAA	0.657		NA	T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								14	73					0	0	0	0
RSL1D1	26156	broad.mit.edu	37	16	11940618	11940618	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:11940618A>G	uc002dbp.1	-	4	540	c.467T>C	c.(466-468)CTT>CCT	p.L156P	RSL1D1_uc010buv.1_Missense_Mutation_p.L156P|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	156					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						GGCATCAGTAAGGAAGAAATC	0.403		NA											111	214					0	0	0	0
RUNDC2A	84127	broad.mit.edu	37	16	12136911	12136911	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:12136911C>T	uc002dbw.1	+	5	467	c.405C>T	c.(403-405)CTC>CTT	p.L135L		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	135	RUN.									ovary(1)	1						TGCACATGCTCCTGGCCGACC	0.532		NA	T	CIITA	PMBL|Hodgkin Lymphona|								5	21					0	0	0	0
KIAA0430	9665	broad.mit.edu	37	16	15705498	15705498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:15705498G>A	uc002ddr.2	-	18	3761	c.3568C>T	c.(3568-3570)CAG>TAG	p.Q1190*	KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q1024*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q1186*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q1189*	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1189						peroxisome	nucleotide binding|RNA binding				0						TTGCTGGCCTGGGATTTGAGA	0.423		NA											14	59					0	0	0	0
XYLT1	64131	broad.mit.edu	37	16	17353019	17353019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:17353019G>A	uc002dfa.2	-	3	824	c.739C>T	c.(739-741)CCC>TCC	p.P247S		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	247	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TTGGTCTCGGGGGAGCTGCCC	0.632		NA											57	102					0	0	0	0
SMG1	23049	broad.mit.edu	37	16	18823385	18823385	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:18823385C>T	uc002dfm.2	-	61	11049	c.10686G>A	c.(10684-10686)CTG>CTA	p.L3562L	SMG1_uc010bwb.2_Silent_p.L3422L|SMG1_uc010bwa.2_Silent_p.L2293L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3562					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TTTTTTGGATCAGCTTTCTAG	0.463		NA											16	63					0	0	0	0
SYT17	51760	broad.mit.edu	37	16	19236021	19236021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19236021C>T	uc002dfw.2	+	7	1420	c.1089C>T	c.(1087-1089)ATC>ATT	p.I363I	SYT17_uc002dfx.2_Silent_p.I302I|SYT17_uc002dfy.2_Silent_p.I359I|SYT17_uc002dfv.1_Silent_p.I302I	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	363	C2 2.					membrane|synaptic vesicle	transporter activity			ovary(1)	1						TTGTGAAAATCCAGCTGGTGC	0.408		NA											26	58					0	0	0	0
CP110	9738	broad.mit.edu	37	16	19553958	19553958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:19553958C>T	uc002dgl.3	+	7	2490	c.2243C>T	c.(2242-2244)GCC>GTC	p.A748V	CP110_uc002dgk.3_Missense_Mutation_p.A748V			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	748					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						ACAAATTCTGCCATGCAATAT	0.373		NA											5	42					0	0	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476956	20476956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20476956G>A	uc010bwe.2	+	4	534	c.295G>A	c.(295-297)GGA>AGA	p.G99R	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.G20R|ACSM2A_uc002dhf.3_Missense_Mutation_p.G99R|ACSM2A_uc002dhg.3_Missense_Mutation_p.G99R|ACSM2A_uc010vay.1_Missense_Mutation_p.G20R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	99					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CGTCCTCTCGGGAGCCTGTGG	0.592		NA											16	51					0	0	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487017	20487017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:20487017C>T	uc010bwe.2	+	9	1259	c.1020C>T	c.(1018-1020)TCC>TCT	p.S340S	ACSM2A_uc010vax.1_Silent_p.S261S|ACSM2A_uc002dhf.3_Silent_p.S340S|ACSM2A_uc002dhg.3_Silent_p.S340S|ACSM2A_uc010vay.1_Silent_p.S261S|ACSM2A_uc002dhh.3_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	340					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						TAGGGGAGTCCCTTCTTCCAG	0.522		NA											36	199					0	0	0	0
ZP2	7783	broad.mit.edu	37	16	21208925	21208926	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21208925_21208926CC>TT	uc002dii.2	-	19	2113_2114	c.2113_2114GG>AA	c.(2113-2115)GGG>AAG	p.G705K	ZP2_uc010bwn.1_Missense_Mutation_p.G735K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	705	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		AGTCTTGTGCCCTTTGGTGTCC	0.48		NA											10	72					0	0	0	0
ZP2	7783	broad.mit.edu	37	16	21213521	21213521	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:21213521C>T	uc002dii.2	-	11	1191	c.1191G>A	c.(1189-1191)AGG>AGA	p.R397R	ZP2_uc010bwn.1_Silent_p.R436R	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	397	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		AGTTTCCCACCCTCAGAGTAC	0.532		NA											14	29					0	0	0	0
GGA2	23062	broad.mit.edu	37	16	23499976	23499976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23499976G>A	uc002dlq.2	-	6	606	c.530C>T	c.(529-531)TCT>TTT	p.S177F	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	177					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGGGAGATGGTGGGGG	0.418		NA											54	109					0	0	0	0
UBFD1	56061	broad.mit.edu	37	16	23569515	23569515	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23569515C>T	uc002dlv.2	+	2	472	c.270C>T	c.(268-270)ATC>ATT	p.I90I	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	90	Ubiquitin-like.										0				GBM - Glioblastoma multiforme(48;0.0331)		ACTTGAAGATCATCTGGAATA	0.637		NA											18	39					0	0	0	0
ERN2	10595	broad.mit.edu	37	16	23713533	23713534	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:23713533_23713534CC>TT	uc002dma.3	-	11	1455_1456	c.1286_1287GG>AA	c.(1285-1287)GGG>GAA	p.G429E	ERN2_uc010bxp.2_Missense_Mutation_p.G429E|ERN2_uc010bxq.1_Missense_Mutation_p.G237E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	381	Lumenal (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGTTCCACTCCCCAGGGTGGG	0.619		NA											60	111					0	0	0	0
SLC5A11	115584	broad.mit.edu	37	16	24922733	24922733	+	Missense_Mutation	SNP	C	C	T	rs145800390	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:24922733C>T	uc002dmu.2	+	16	2139	c.1907C>T	c.(1906-1908)CCG>CTG	p.P636L	SLC5A11_uc002dms.2_Missense_Mutation_p.P572L|SLC5A11_uc010vcd.1_Missense_Mutation_p.P601L|SLC5A11_uc002dmt.2_Missense_Mutation_p.P480L|SLC5A11_uc010vce.1_Missense_Mutation_p.P566L|SLC5A11_uc010bxt.2_Missense_Mutation_p.P572L|SLC5A11_uc002dmv.2_Missense_Mutation_p.P259L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	636	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCTCCCGGCCAGAGCA	0.537		NA											87	156					0	0	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264338	25264338	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:25264338G>A	uc002dod.3	-	3	1014	c.607C>T	c.(607-609)CCT>TCT	p.P203S	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.P203S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	203					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GCAAGGGCAGGAACCCAGGGA	0.428		NA											28	158					0	0	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617420	28617420	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617420G>A	uc002dqi.2	-	6	1205	c.732C>T	c.(730-732)CCC>CCT	p.P244P	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.P244P|SULT1A1_uc002dqk.2_Silent_p.P244P|SULT1A1_uc002dql.2_Silent_p.P244P|SULT1A1_uc002dqm.2_Silent_p.P166P|SULT1A1_uc002dqn.2_Silent_p.P335P|SULT1A1_uc002dqo.2_Silent_p.P244P|SULT1A1_uc002dqp.2_Silent_p.P244P	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						TGAACTCCTGGGGGACGGTGG	0.617		NA											27	424					0	0	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617426	28617426	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:28617426G>A	uc002dqi.2	-	6	1199	c.726C>T	c.(724-726)ACC>ACT	p.T242T	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.T242T|SULT1A1_uc002dqk.2_Silent_p.T242T|SULT1A1_uc002dql.2_Silent_p.T242T|SULT1A1_uc002dqm.2_Silent_p.T164T|SULT1A1_uc002dqn.2_Silent_p.T333T|SULT1A1_uc002dqo.2_Silent_p.T242T|SULT1A1_uc002dqp.2_Silent_p.T242T	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	242					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CCTGGGGGACGGTGGTGTAGT	0.602		NA											27	401					0	0	0	0
SPN	6693	broad.mit.edu	37	16	29675976	29675976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29675976C>T	uc002dtm.2	+	2	1063	c.927C>T	c.(925-927)GTC>GTT	p.V309V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Silent_p.V309V|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	309	Cytoplasmic (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						CAGCCCAGGTCCCTGAGGAGG	0.731		NA											3	10					0	0	0	0
TAOK2	9344	broad.mit.edu	37	16	29996845	29996846	+	Silent	DNP	CC	CC	TT	rs141623258		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:29996845_29996846CC>TT	uc002dva.1	+	14	2517_2518	c.1734_1735CC>TT	c.(1732-1737)GCCCTG>GCTTTG	p.578_579AL>AL	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.578_579AL>AL|TAOK2_uc002dvc.1_Silent_p.578_579AL>AL|TAOK2_uc010bzm.1_Silent_p.585_586AL>AL|TAOK2_uc002dvd.1_Silent_p.405_406AL>AL	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	578_579	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						AGCTGGCTGCCCTGCTGGAGGC	0.639		NA											6	33					0	0	0	0
FBXL19	54620	broad.mit.edu	37	16	30941539	30941539	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30941539C>T	uc002eab.2	+	7	1153	c.995C>T	c.(994-996)TCC>TTC	p.S332F	FBXL19_uc002dzz.1_Missense_Mutation_p.S20F|FBXL19_uc002eaa.1_Missense_Mutation_p.S231F	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	332	Ser-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						GACTCAGACTCCGACTCCGAC	0.667		NA											14	57					0	0	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998163	30998163	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:30998163C>T	uc002eaf.2	+	6	640	c.534C>T	c.(532-534)GTC>GTT	p.V178V	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Silent_p.V178V	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	178					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						GCCACCAGGTCCGTGGGGGGC	0.677		NA											9	59					0	0	0	0
STX4	6810	broad.mit.edu	37	16	31046325	31046325	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31046325C>T	uc002eal.2	+	5	566	c.342C>T	c.(340-342)AAC>AAT	p.N114N	STX4_uc002eak.2_Silent_p.N112N|STX4_uc002eam.2_Silent_p.N36N	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	114	Cytoplasmic (Potential).|Potential.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						CTGATGAGAACTATAACTCCG	0.408		NA											21	129					0	0	0	0
ITGAD	3681	broad.mit.edu	37	16	31414965	31414965	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31414965G>A	uc002ebv.1	+	7	752	c.703G>A	c.(703-705)GTG>ATG	p.V235M	ITGAD_uc010vfl.1_Missense_Mutation_p.V235M|ITGAD_uc010cap.1_Missense_Mutation_p.V235M|ITGAD_uc002ebw.1_Missense_Mutation_p.V46M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	235	Extracellular (Potential).|VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CCTGACAGTGGTGTAAGCAAC	0.627		NA											20	48					0	0	0	0
ITGAD	3681	broad.mit.edu	37	16	31421727	31421727	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:31421727C>T	uc002ebv.1	+	11	1144	c.1095C>T	c.(1093-1095)TTC>TTT	p.F365F	ITGAD_uc010cap.1_Silent_p.F365F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	365	Extracellular (Potential).|FG-GAP 3.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						ATGGCCTCTTCCTGGGGGCTG	0.577		NA											24	88					0	0	0	0
ITFG1	81533	broad.mit.edu	37	16	47345268	47345268	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:47345268G>A	uc002eet.2	-	10	1015	c.953C>T	c.(952-954)CCA>CTA	p.P318L	ITFG1_uc010vgg.1_Missense_Mutation_p.P63L|ITFG1_uc010vgh.1_Missense_Mutation_p.P205L	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	318						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATCCACAAATGGCACAAAGCC	0.393		NA											19	41					0	0	0	0
ABCC11	85320	broad.mit.edu	37	16	48218385	48218385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:48218385G>A	uc002eff.1	-	22	3574	c.3224C>T	c.(3223-3225)TCC>TTC	p.S1075F	ABCC11_uc002efg.1_Missense_Mutation_p.S1075F|ABCC11_uc002efh.1_Missense_Mutation_p.S1075F|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1075	Cytoplasmic (Potential).|ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTAAAGGAGTAGGGGGT	0.557		NA							Cerumen_Type				14	60					0	0	0	0
C16orf78	123970	broad.mit.edu	37	16	49430376	49430376	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:49430376G>A	uc002efr.2	+	4	480	c.437G>A	c.(436-438)CGG>CAG	p.R146Q		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	146										central_nervous_system(1)	1						TCCACTCAGCGGCCAAACCCA	0.507		NA											39	69					0	0	0	0
SALL1	6299	broad.mit.edu	37	16	51173737	51173737	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:51173737G>A	uc010vgs.1	-	2	2427	c.2396C>T	c.(2395-2397)CCC>CTC	p.P799L	SALL1_uc010vgr.1_Missense_Mutation_p.P702L|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	799					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTAGCTGTCGGGGACTGGGGT	0.502		NA											58	113					0	0	0	0
IRX3	79191	broad.mit.edu	37	16	54319187	54319187	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:54319187C>T	uc002eht.1	-	2	1022	c.606G>A	c.(604-606)GAG>GAA	p.E202E		NM_024336	NP_077312	P78415	IRX3_HUMAN	iroquois homeobox 3	202	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGCGTTTCCCTCCTCGTCAG	0.463		NA											19	27					0	0	0	0
IRX6	79190	broad.mit.edu	37	16	55362877	55362877	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:55362877C>T	uc002ehy.2	+	5	1520	c.987C>T	c.(985-987)TTC>TTT	p.F329F	IRX6_uc002ehx.2_Silent_p.F329F	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	329						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						AAGCTGACTTCCTCTCGGCGG	0.647		NA											24	46					0	0	0	0
GNAO1	2775	broad.mit.edu	37	16	56377846	56377846	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:56377846G>A	uc002eit.3	+	8	1946	c.1049G>A	c.(1048-1050)GGC>GAC	p.G350D	GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	350					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				AACCTGCGGGGCTGTGGACTC	0.627		NA											6	54					0	0	0	0
NLRC5	84166	broad.mit.edu	37	16	57088699	57088699	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57088699C>T	uc002ekk.1	+	25	3768	c.3543C>T	c.(3541-3543)TTC>TTT	p.F1181F	NLRC5_uc002ekn.2_Silent_p.F900F|NLRC5_uc002ekl.2_Silent_p.F986F|NLRC5_uc002ekm.2_Silent_p.F956F|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Silent_p.F97F|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.F97F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1181	LRR 12.				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)				AAAGCCCCTTCCTGCTGGCCA	0.587		NA											46	230					0	0	0	0
CPNE2	221184	broad.mit.edu	37	16	57151428	57151428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:57151428C>T	uc002eks.1	+	5	685	c.456C>T	c.(454-456)TCC>TCT	p.S152S	CPNE2_uc010cct.1_Silent_p.S178S|CPNE2_uc010ccu.1_Silent_p.S152S	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	152	C2 2.									central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				AGGAGCTGTCCGACAACCGCG	0.652		NA											8	27					0	0	0	0
CCDC113	29070	broad.mit.edu	37	16	58287927	58287927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58287927C>T	uc002ene.2	+	3	333	c.254C>T	c.(253-255)TCC>TTC	p.S85F	CCDC113_uc010vid.1_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	85						protein complex					0						AGATCCAAATCCCGGACAGGT	0.493		NA											9	74					0	0	0	0
NDRG4	65009	broad.mit.edu	37	16	58537726	58537726	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:58537726G>A	uc002eno.2	+	2	152	c.46G>A	c.(46-48)GGC>AGC	p.G16S	NDRG4_uc002enk.2_Missense_Mutation_p.G48S|NDRG4_uc002enm.2_Missense_Mutation_p.G68S|NDRG4_uc010vif.1_Missense_Mutation_p.G48S|NDRG4_uc010cdk.2_Missense_Mutation_p.G16S|NDRG4_uc010vig.1_Missense_Mutation_p.G46S|NDRG4_uc010vih.1_5'UTR|NDRG4_uc010vii.1_Missense_Mutation_p.G34S|NDRG4_uc002enp.2_Missense_Mutation_p.G16S|NDRG4_uc002enq.1_5'Flank	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	16					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						GACACCCTACGGCCTTCTGCA	0.622		NA											8	51					0	0	0	0
CDH8	1006	broad.mit.edu	37	16	61859073	61859073	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:61859073T>A	uc002eog.1	-	5	930	c.678A>T	c.(676-678)AAA>AAT	p.K226N	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	226	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAAGGGCAGTTTTTATAATAG	0.448		NA											18	44					0	0	0	0
CDH11	1009	broad.mit.edu	37	16	65006865	65006865	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:65006865T>C	uc002eoi.2	-	9	1766	c.1332A>G	c.(1330-1332)AAA>AAG	p.K444K	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.K444K|CDH11_uc010vin.1_Silent_p.K318K	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	444	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TATCCAGAGGTTTTGTAGTTT	0.403		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			16	42					0	0	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66768138	66768138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:66768138C>T	uc002eqb.1	-	6	807	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	DYNC1LI2_uc010vis.1_Missense_Mutation_p.R182Q|DYNC1LI2_uc010vit.1_Missense_Mutation_p.R259Q|DYNC1LI2_uc010viu.1_Missense_Mutation_p.R220Q	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	259					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCAGAACCTCCGCAGGTGTGA	0.527		NA											14	55					0	0	0	0
KCTD19	146212	broad.mit.edu	37	16	67328009	67328009	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67328009C>T	uc002esu.2	-	12	1707	c.1656G>A	c.(1654-1656)AAG>AAA	p.K552K	KCTD19_uc002est.2_Silent_p.K324K|KCTD19_uc010vjj.1_Silent_p.K295K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	552						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCAGGTTTCCCTTAGCCTTGT	0.562		NA											43	196					0	0	0	0
RLTPR	146206	broad.mit.edu	37	16	67690200	67690200	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67690200C>T	uc002etn.2	+	34	3932	c.3812C>T	c.(3811-3813)GCT>GTT	p.A1271V	RLTPR_uc010vjr.1_Missense_Mutation_p.A1235V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1271										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TCTGTGTCTGCTGGTGAGTGA	0.587		NA											23	96					0	0	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67694198G>A	uc002etq.3	-	1	521	c.184C>T	c.(184-186)CTT>TTT	p.L62F	ACD_uc002etp.3_Missense_Mutation_p.L62F|ACD_uc002etr.3_Missense_Mutation_p.L62F|ACD_uc010vjt.1_Missense_Mutation_p.L52F|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736		NA											7	35					0	0	0	0
C16orf86	388284	broad.mit.edu	37	16	67701384	67701384	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67701384C>T	uc002ety.2	+	2	445	c.288C>T	c.(286-288)GTC>GTT	p.V96V	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.2_RNA	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	hypothetical protein LOC388284	96											0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCCGTGGTCTCCATTGTGA	0.677		NA											3	20					0	0	0	0
RANBP10	57610	broad.mit.edu	37	16	67763288	67763288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:67763288G>A	uc002eud.2	-	10	1363	c.1247C>T	c.(1246-1248)TCC>TTC	p.S416F	RANBP10_uc010ceo.2_Missense_Mutation_p.S187F|RANBP10_uc010vju.1_Missense_Mutation_p.S360F|RANBP10_uc010vjv.1_Missense_Mutation_p.S299F|RANBP10_uc010vjw.1_Missense_Mutation_p.S77F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	416	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		cgaggaggaggaggaggacga	0.413		NA											22	64					0	0	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674608	71674609	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71674608_71674609CC>TT	uc002fau.2	+	3	974_975	c.911_912CC>TT	c.(910-912)GCC>GTT	p.A304V	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				CTCACGGAGGCCGCCTTCAGCC	0.559		NA											21	32					0	0	0	0
AP1G1	164	broad.mit.edu	37	16	71784220	71784220	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:71784220G>A	uc010cgg.2	-	14	1614	c.1300C>T	c.(1300-1302)CGT>TGT	p.R434C	AP1G1_uc002fba.2_Missense_Mutation_p.R437C|AP1G1_uc002fbb.2_Missense_Mutation_p.R457C	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GCATCATCACGAACATAACTT	0.373		NA											12	99					0	0	0	0
BCAR1	9564	broad.mit.edu	37	16	75301841	75301841	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:75301841C>T	uc002fdx.2	-	1	111	c.38G>A	c.(37-39)AGG>AAG	p.R13K	BCAR1_uc010vnb.1_5'Flank|BCAR1_uc002fdw.2_5'Flank|BCAR1_uc010vnc.1_5'Flank|BCAR1_uc010vnd.1_5'Flank	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGTGTGGGCCTGGGGGCAGC	0.617		NA											3	15					0	0	0	0
VAT1L	57687	broad.mit.edu	37	16	77910306	77910306	+	Silent	SNP	C	C	T	rs150412236	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77910306C>T	uc002ffg.1	+	5	859	c.762C>T	c.(760-762)CTC>CTT	p.L254L		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	254							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TGGATTGCCTCTGTGGGGACA	0.483		NA											27	121					0	0	0	0
VAT1L	57687	broad.mit.edu	37	16	77918599	77918599	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918599G>A	uc002ffg.1	+	7	1074	c.977G>A	c.(976-978)GGC>GAC	p.G326D		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	326							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TTCAAACAAGGCCGGGCGGGC	0.532		NA											10	29					0	0	0	0
VAT1L	57687	broad.mit.edu	37	16	77918680	77918680	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:77918680C>T	uc002ffg.1	+	7	1155	c.1058C>T	c.(1057-1059)TCC>TTC	p.S353F		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	353							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						GTGGTGGACTCCTTGTGGGCT	0.483		NA											3	19					0	0	0	0
WWOX	51741	broad.mit.edu	37	16	78458951	78458951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:78458951C>T	uc002ffk.2	+	7	915	c.790C>T	c.(790-792)CGA>TGA	p.R264*	WWOX_uc010vnk.1_Nonsense_Mutation_p.R151*|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	264	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AGAGTCCCATCGGTGGGTTTG	0.473		NA											40	81					0	0	0	0
CDYL2	124359	broad.mit.edu	37	16	80646545	80646545	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:80646545G>A	uc002ffs.2	-	5	1301	c.1196C>T	c.(1195-1197)CCC>CTC	p.P399L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	399						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CAGGATCTGGGGGAAGGTGTA	0.632		NA											18	102					0	0	0	0
CENPN	55839	broad.mit.edu	37	16	81045703	81045703	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81045703C>T	uc002ffx.2	+	2	949	c.159C>T	c.(157-159)ATC>ATT	p.I53I	CENPN_uc002ffw.3_Silent_p.I53I|CENPN_uc010vnl.1_Silent_p.I53I|CENPN_uc010vnm.1_Silent_p.I53I|CENPN_uc002ffy.3_Silent_p.I53I	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	53					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						AGCACTTGATCCATCTGTGTG	0.403		NA											8	57					0	0	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134881	81134881	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81134881C>T	uc002fgh.1	-	45	7227	c.7227G>A	c.(7225-7227)GAG>GAA	p.E2409E	PKD1L2_uc002fgf.1_Silent_p.E209E|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2409	Extracellular (Potential).|Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTCCCCTTCCTCCGACAGCT	0.458		NA											9	40					0	0	0	0
CMIP	80790	broad.mit.edu	37	16	81725433	81725433	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:81725433C>T	uc002fgp.2	+	11	1514	c.1442C>T	c.(1441-1443)CCA>CTA	p.P481L	CMIP_uc002fgq.1_Missense_Mutation_p.P387L|CMIP_uc010vnq.1_Missense_Mutation_p.P294L|CMIP_uc002fgr.1_Missense_Mutation_p.P328L|CMIP_uc010vnr.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	447						cytoplasm|nucleus					0						CAACCCATTCCATTCCCCAAA	0.547		NA											12	24					0	0	0	0
KCNG4	93107	broad.mit.edu	37	16	84256431	84256431	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256431C>T	uc010voc.1	-	3	1073	c.952G>A	c.(952-954)GAG>AAG	p.E318K		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	318						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TCGCCGTCCTCCGGGGGCTCC	0.647		NA											3	18					0	0	0	0
KCNG4	93107	broad.mit.edu	37	16	84256561	84256561	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:84256561G>A	uc010voc.1	-	3	943	c.822C>T	c.(820-822)TCC>TCT	p.S274S		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	274	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						AGAACTCCAGGGAGAACCAGG	0.567		NA											3	26					0	0	0	0
IRF8	3394	broad.mit.edu	37	16	85953824	85953824	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:85953824C>T	uc002fjh.2	+	8	1155	c.1098C>T	c.(1096-1098)CTC>CTT	p.L366L	IRF8_uc010chp.2_RNA	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	366					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				AACTCATTCTCGTGCAGGTAA	0.348		NA											8	17					0	0	0	0
BANP	54971	broad.mit.edu	37	16	88061239	88061239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:88061239C>T	uc002fkr.2	+	8	1243	c.1019C>T	c.(1018-1020)TCC>TTC	p.S340F	BANP_uc002fkp.2_Missense_Mutation_p.S310F|BANP_uc002fkq.2_Missense_Mutation_p.S310F|BANP_uc010vow.1_Missense_Mutation_p.S348F|BANP_uc002fks.3_Missense_Mutation_p.S309F|BANP_uc002fko.1_Missense_Mutation_p.S246F|BANP_uc010vov.1_Missense_Mutation_p.S315F	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	341	Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCAACTCGTCCTCCTACTGC	0.697		NA											6	71					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89341587	89341587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89341587G>A	uc002fmx.1	-	10	7944	c.7483C>T	c.(7483-7485)CCC>TCC	p.P2495S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2495S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2495						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAGGGAGGGAGGGGGTGCG	0.637		NA											9	15					0	0	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764657	89764657	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr16:89764657G>A	uc002foj.2	-	3	425	c.360C>T	c.(358-360)CTC>CTT	p.L120L	SPATA2L_uc002fok.2_Silent_p.L120L	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	120											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTCTTCAGGAGGAGGTCGT	0.647		NA											30	211					0	0	0	0
RNMTL1	55178	broad.mit.edu	37	17	685749	685749	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:685749C>T	uc002frw.2	+	1	237	c.131C>T	c.(130-132)TCC>TTC	p.S44F	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	44					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGTTTCCTTCCGGAGAGGTG	0.657		NA											7	43					0	0	0	0
ABR	29	broad.mit.edu	37	17	915171	915171	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:915171C>T	uc002fsd.2	-	19	2126	c.2016G>A	c.(2014-2016)GAG>GAA	p.E672E	ABR_uc002fse.2_Silent_p.E626E|ABR_uc010vqf.1_Silent_p.E123E|ABR_uc010vqg.1_Silent_p.E454E|ABR_uc002fsg.2_Silent_p.E635E|ABR_uc002fsh.1_Silent_p.E280E|ABR_uc002fsf.2_Silent_p.E209E	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	672	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TACCCCTCTTCTCCACCTCCT	0.652		NA											16	49					0	0	0	0
TUSC5	286753	broad.mit.edu	37	17	1183397	1183397	+	Silent	SNP	G	G	A	rs75025906	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1183397G>A	uc002fsi.1	+	1	441	c.102G>A	c.(100-102)GAG>GAA	p.E34E		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	34			E -> D.		response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAAGGCAGAGAACAAGGATG	0.607		NA											18	70					0	0	0	0
PRPF8	10594	broad.mit.edu	37	17	1584266	1584266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584266G>A	uc002fte.2	-	7	1063	c.949C>T	c.(949-951)CCT>TCT	p.P317S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	317						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACAAGTAAGGAAAAGCAATC	0.443		NA											47	212					0	0	0	0
PRPF8	10594	broad.mit.edu	37	17	1584903	1584903	+	Silent	SNP	G	G	A	rs145114613		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1584903G>A	uc002fte.2	-	6	849	c.735C>T	c.(733-735)CTC>CTT	p.L245L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	245						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCTGTCAGGAGCTGATTAG	0.473		NA											42	149					0	0	0	0
SERPINF1	5176	broad.mit.edu	37	17	1674431	1674431	+	Missense_Mutation	SNP	C	C	T	rs148005190		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:1674431C>T	uc002ftl.2	+	4	549	c.392C>T	c.(391-393)GCC>GTC	p.A131V	SERPINF1_uc010cjw.2_Intron	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	131					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						ACGGTCACTGCCCCCCAGAAG	0.547		NA											11	43					0	0	0	0
METT10D	79066	broad.mit.edu	37	17	2323366	2323366	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:2323366G>A	uc002fut.2	-	10	1735	c.1587C>T	c.(1585-1587)GCC>GCT	p.A529A	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.A311A	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	529							methyltransferase activity				0						TCTCCACTAAGGCATCGTCCA	0.502		NA											9	52					0	0	0	0
OR1A1	8383	broad.mit.edu	37	17	3118956	3118956	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3118956C>T	uc010vrc.1	+	1	42	c.42C>T	c.(40-42)CTC>CTT	p.L14L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AATTCATCCTCCTGGGAGTTA	0.418		NA											17	67					0	0	0	0
ZZEF1	23140	broad.mit.edu	37	17	3980240	3980240	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:3980240G>A	uc002fxe.2	-	20	3097	c.3033C>T	c.(3031-3033)TCC>TCT	p.S1011S	ZZEF1_uc002fxk.1_Silent_p.S1012S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1011							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGAGAAAAGGGATTCCAAAA	0.368		NA											10	44					0	0	0	0
ARRB2	409	broad.mit.edu	37	17	4620534	4620535	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:4620534_4620535CC>TT	uc002fyj.2	+	6	608_609	c.380_381CC>TT	c.(379-381)TCC>TTT	p.S127F	ARRB2_uc002fyk.2_Missense_Mutation_p.S112F|ARRB2_uc002fyl.2_Missense_Mutation_p.S127F|ARRB2_uc010vsg.1_Missense_Mutation_p.S148F|ARRB2_uc002fym.2_Missense_Mutation_p.S112F|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	127					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0						CTTCCATGCTCCGTCACACTGC	0.569		NA											13	87					0	0	0	0
USP6	9098	broad.mit.edu	37	17	5042964	5042964	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5042964G>A	uc002gau.1	+	22	3723	c.1493G>A	c.(1492-1494)GGA>GAA	p.G498E	USP6_uc002gav.1_Missense_Mutation_p.G498E|USP6_uc010ckz.1_Missense_Mutation_p.G181E|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	498					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GAACACTGCGGAGAGGGTGAG	0.602		NA	T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								7	56					0	0	0	0
RPAIN	84268	broad.mit.edu	37	17	5323605	5323605	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5323605C>T	uc002gbq.2	+	1	645	c.75C>T	c.(73-75)TTC>TTT	p.F25F	NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Silent_p.F25F|RPAIN_uc002gbp.1_Missense_Mutation_p.P79S|RPAIN_uc010vta.1_Silent_p.F25F|RPAIN_uc010vtb.1_Silent_p.F25F|RPAIN_uc002gbs.2_Missense_Mutation_p.P79S|RPAIN_uc002gbt.2_Silent_p.F25F|RPAIN_uc002gbu.2_Missense_Mutation_p.P79S|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Silent_p.F25F	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	25					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						AAGAGGCTTTCCGGCAGGTGG	0.632		NA											7	34					0	0	0	0
RPAIN	84268	broad.mit.edu	37	17	5329615	5329615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5329615C>T	uc002gbq.2	+	5	1055	c.485C>T	c.(484-486)TCT>TTT	p.S162F	RPAIN_uc010vsz.1_Missense_Mutation_p.S162F|RPAIN_uc002gbp.1_Missense_Mutation_p.S178F|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Missense_Mutation_p.S178F|RPAIN_uc002gbt.2_Missense_Mutation_p.S162F|RPAIN_uc002gbu.2_Missense_Mutation_p.S178F|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Intron|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	162	RIP-type.				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						TCCATCCCATCTCATGTGAGT	0.448		NA											23	91					0	0	0	0
MIS12	79003	broad.mit.edu	37	17	5392534	5392534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:5392534C>T	uc002gcd.2	+	2	681	c.352C>T	c.(352-354)CAG>TAG	p.Q118*	MIS12_uc002gce.2_Nonsense_Mutation_p.Q118*	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	MIS12 homolog	118	Potential.				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0						TCAGCATCTCCAGAAAGAAAT	0.378		NA											16	49					0	0	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364730	6364730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6364730C>T	uc002gdd.3	-	18	2604	c.2453G>A	c.(2452-2454)CGG>CAG	p.R818Q	PITPNM3_uc010cln.2_Missense_Mutation_p.R782Q|PITPNM3_uc010clm.2_Missense_Mutation_p.R301Q|PITPNM3_uc002gdc.3_Missense_Mutation_p.R409Q	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	818					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGCCTTCTGCCGCAGCGGGTC	0.632		NA											42	35					0	0	0	0
SLC13A5	284111	broad.mit.edu	37	17	6594098	6594098	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:6594098C>T	uc002gdj.2	-	10	1525	c.1437G>A	c.(1435-1437)ATG>ATA	p.M479I	SLC13A5_uc010vtf.1_Missense_Mutation_p.M479I|SLC13A5_uc010clq.2_Missense_Mutation_p.M436I|SLC13A5_uc002gdk.2_Missense_Mutation_p.M462I	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	479						integral to membrane	citrate transmembrane transporter activity				0						GGTTACTTACCATGGAGGCAA	0.552		NA											27	107					0	0	0	0
ACAP1	9744	broad.mit.edu	37	17	7250425	7250425	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7250425G>A	uc002ggd.2	+	14	1413	c.1207G>A	c.(1207-1209)GGA>AGA	p.G403R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	403					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						GGAGCCTGGGGGAGTCGGGCA	0.677		NA											20	16					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7721717	7721717	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7721717C>T	uc002giu.1	+	68	10489	c.10475C>T	c.(10474-10476)CCC>CTC	p.P3492L	DNAH2_uc010cnm.1_Missense_Mutation_p.P430L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3492	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTCCAACCCCCACTACAGC	0.522		NA											28	176					0	0	0	0
CNTROB	116840	broad.mit.edu	37	17	7849045	7849046	+	Splice_Site	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7849045_7849046GG>AA	uc002gjq.2	+	14	2654	c.1735_splice	c.e14-1	p.A579_splice	CNTROB_uc002gjp.2_Splice_Site_p.A579_splice|CNTROB_uc002gjr.2_Splice_Site_p.A481_splice	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CTCCTGGTCAGGCTCCTCCTGC	0.505		NA											22	51					0	0	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917309	7917309	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7917309C>T	uc002gjt.2	+	12	2449	c.2375C>T	c.(2374-2376)CCG>CTG	p.P792L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	792	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGAGCAGCCGGAACTTCGG	0.637		NA											9	81					0	0	0	0
GUCY2D	3000	broad.mit.edu	37	17	7918202	7918202	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:7918202G>A	uc002gjt.2	+	14	2676	c.2602G>A	c.(2602-2604)GGG>AGG	p.G868R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	868	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTGAAGACGGGGACACCAGT	0.597		NA											33	26					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8161418	8161418	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8161418C>T	uc002gkr.2	+	11	1378	c.1237C>T	c.(1237-1239)CCA>TCA	p.P413S	PFAS_uc010vuv.1_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	413					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTCCAGCTCCCAGACGGCCA	0.622		NA											17	46					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8169333	8169333	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8169333A>C	uc002gkr.2	+	21	2840	c.2699A>C	c.(2698-2700)AAA>ACA	p.K900T	PFAS_uc010vuv.1_Missense_Mutation_p.K476T|PFAS_uc002gks.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	900					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGCTGCTGAAAGGTGAGTGA	0.612		NA											5	30					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8172385	8172385	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:8172385C>T	uc002gkr.2	+	28	3961	c.3820C>T	c.(3820-3822)CCC>TCC	p.P1274S	PFAS_uc010vuv.1_Missense_Mutation_p.P850S|PFAS_uc002gks.2_3'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1274	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTCTGAATCCCAATGGGTC	0.627		NA											50	29					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10205018	10205018	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10205018C>T	uc002gmk.1	-	40	5760	c.5670G>A	c.(5668-5670)GAG>GAA	p.E1890E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1890	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGGCCTGCTCCTCCTGCACAG	0.602		NA											7	44					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10206584	10206584	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10206584G>A	uc002gmk.1	-	39	5686	c.5596C>T	c.(5596-5598)CTT>TTT	p.L1866F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1866	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGGAGCCTAAGGATATTCTTG	0.577		NA											35	152					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10354694G>A	uc002gmn.2	-	28	3925	c.3814C>T	c.(3814-3816)CGC>TGC	p.R1272C	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1272	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTTATTAAGCGTTGTTGCTCT	0.433		NA											18	70					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10358389	10358389	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10358389G>A	uc002gmn.2	-	21	2415	c.2304C>T	c.(2302-2304)TTC>TTT	p.F768F	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	768	Myosin head-like.|Actin-binding (By similarity).				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CAGCTTTGAAGAAAACCTTAT	0.403		NA											13	71					0	0	0	0
MYH4	4622	broad.mit.edu	37	17	10369997	10369997	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10369997C>T	uc002gmn.2	-	3	177	c.66G>A	c.(64-66)AAG>AAA	p.K22K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	22	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CAATTCGCTCCTTTTCAGACT	0.493		NA											27	104					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10402027	10402027	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10402027G>A	uc002gmo.2	-	30	4191	c.4097C>T	c.(4096-4098)TCC>TTC	p.S1366F	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1366	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						GTTGGCCTTGGACATTGCTCT	0.572		NA											80	59					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10408289	10408289	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10408289G>T	uc002gmo.2	-	22	2623	c.2529C>A	c.(2527-2529)CTC>CTA	p.L843L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	843	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CACTTTTGAGGAGGGGTTTGA	0.463		NA											24	92					4.72e-08	4.83e-08	1	0
MYH2	4620	broad.mit.edu	37	17	10432160	10432160	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10432160G>A	uc010coi.2	-	27	3719	c.3591C>T	c.(3589-3591)ACC>ACT	p.T1197T	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1197T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1197	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCTTCCTCAGGGTGGCCGCTG	0.562		NA											26	120					0	0	0	0
MYH2	4620	broad.mit.edu	37	17	10450897	10450897	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:10450897G>A	uc010coi.2	-	4	371	c.243C>T	c.(241-243)AAC>AAT	p.N81N	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N81N|MYH2_uc010coj.2_Silent_p.N81N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	81	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						ATTTGGGAGGGTTCATGGGGA	0.433		NA											103	73					0	0	0	0
RICH2	9912	broad.mit.edu	37	17	12847451	12847451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:12847451G>A	uc002gnr.3	+	10	1126	c.799G>A	c.(799-801)GAG>AAG	p.E267K	RICH2_uc010vvk.1_Missense_Mutation_p.E267K|RICH2_uc010vvl.1_Missense_Mutation_p.E267K|RICH2_uc002gns.3_Missense_Mutation_p.E67K|RICH2_uc010vvm.1_Missense_Mutation_p.E267K|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						CAGCGGCCGGGAGATCGCCTT	0.632		NA											5	34					0	0	0	0
MPRIP	23164	broad.mit.edu	37	17	17062129	17062129	+	Missense_Mutation	SNP	C	C	T	rs146616345		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17062129C>T	uc002gqu.1	+	14	1915	c.1859C>T	c.(1858-1860)CCA>CTA	p.P620L	MPRIP_uc002gqv.1_Missense_Mutation_p.P620L|MPRIP_uc002gqw.1_Missense_Mutation_p.P375L	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	620	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GACCGGAGCCCAGGGCTGCCT	0.652		NA											33	28					0	0	0	0
FLCN	201163	broad.mit.edu	37	17	17116981	17116981	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:17116981C>T	uc002gra.3	-	14	2232	c.1728G>A	c.(1726-1728)GAG>GAA	p.E576E	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	576					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						AGTTCCGAGACTCCGAGGCTG	0.572		NA							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				27	49					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18045392	18045392	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18045392G>A	uc010vxh.1	+	23	5988	c.5650_splice	c.e23-1	p.L1884_splice		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCTGTCCTTAGCTGTTCCTTA	0.577		NA											71	44					0	0	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566179	18566179	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:18566179C>T	uc010vyd.1	-	5	891	c.640G>A	c.(640-642)GGA>AGA	p.G214R		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	zinc finger protein 286B	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCATAAGATCCTTTGGGAACT	0.343		NA											21	28					0	0	0	0
EPN2	22905	broad.mit.edu	37	17	19235287	19235287	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19235287C>T	uc002gvd.3	+	10	1981	c.1533C>T	c.(1531-1533)TCC>TCT	p.S511S	EPN2_uc010cql.1_Silent_p.S220S|EPN2_uc002gve.3_Silent_p.S454S|EPN2_uc002gvf.3_Silent_p.S226S|EPN2_uc010vyo.1_Silent_p.S219S|EPN2_uc010vyp.1_Silent_p.S447S|EPN2_uc010vyq.1_Silent_p.S448S|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Silent_p.S174S	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	511	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CACCTGAGTCCTTCCTGGGCC	0.617		NA											13	71					0	0	0	0
B9D1	27077	broad.mit.edu	37	17	19247153	19247153	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:19247153C>T	uc002gvk.3	-	6	586	c.422G>A	c.(421-423)CGG>CAG	p.R141Q	B9D1_uc010cqm.1_Missense_Mutation_p.G117S|B9D1_uc002gvl.3_Missense_Mutation_p.G117S|B9D1_uc010vyr.1_Missense_Mutation_p.G161S|B9D1_uc010vys.1_Missense_Mutation_p.G192S	NM_015681	NP_056496	Q9UPM9	B9D1_HUMAN	B9 protein	141					cilium assembly	centrosome|microtubule basal body	protein binding				0	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GTACTCGGGCCGCCGCCCCAT	0.622		NA											15	21					0	0	0	0
USP22	23326	broad.mit.edu	37	17	20911202	20911202	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:20911202A>G	uc002gym.3	-	9	1415	c.1211T>C	c.(1210-1212)GTA>GCA	p.V404A	USP22_uc002gyn.3_Missense_Mutation_p.V392A|USP22_uc002gyl.3_Missense_Mutation_p.V299A	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	404					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						AAAACAGGCTACGATGGGCAG	0.483		NA											25	66					0	0	0	0
NOS2	4843	broad.mit.edu	37	17	26108184	26108184	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26108184G>A	uc002gzu.2	-	8	1006	c.742C>T	c.(742-744)CCC>TCC	p.P248S	NOS2_uc010crh.1_Missense_Mutation_p.P248S|NOS2_uc010wab.1_Missense_Mutation_p.P248S	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	248					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCCGCTGGGGGAACACGGTG	0.617		NA											10	53					0	0	0	0
PIGS	94005	broad.mit.edu	37	17	26881400	26881400	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26881400G>A	uc002hbo.2	-	12	1879	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.F494F|PIGS_uc010wap.1_Silent_p.F441F	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	502	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					ACGGGTCAAAGAAGGCAAGCT	0.557		NA											27	95					0	0	0	0
ALDOC	230	broad.mit.edu	37	17	26902186	26902186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:26902186G>A	uc002hbp.2	-	3	424	c.279C>T	c.(277-279)CCC>CCT	p.P93P	ALDOC_uc010cro.2_Silent_p.P93P	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	93					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					TTCGGACGAAGGGAACACCAT	0.517		NA									OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0	0
SEZ6	124925	broad.mit.edu	37	17	27309024	27309024	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:27309024C>T	uc002hdp.2	-	2	283	c.89G>A	c.(88-90)GGA>GAA	p.G30E	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G30E|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.G30E	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	30	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGGGCTTGTCCTTTCCCCAC	0.592		NA											6	27					0	0	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380879	28380879	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28380879A>C	uc002het.2	+	10	2099	c.1907A>C	c.(1906-1908)CAG>CCG	p.Q636P	EFCAB5_uc010wbi.1_Missense_Mutation_p.Q379P|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q580P|EFCAB5_uc010wbk.1_Missense_Mutation_p.Q293P|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q515P|EFCAB5_uc010csf.2_Missense_Mutation_p.Q515P	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	636							calcium ion binding			ovary(1)|skin(1)	2						GCTGCAGAACAGGGATCACTC	0.443		NA											29	96					0	0	0	0
CPD	1362	broad.mit.edu	37	17	28748832	28748832	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:28748832C>T	uc002hfb.1	+	4	1303	c.1288C>T	c.(1288-1290)CTT>TTT	p.L430F	CPD_uc010wbo.1_Missense_Mutation_p.L183F|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	430	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						AACTTACAACCTTACAGTAGT	0.343		NA											15	89					0	0	0	0
NF1	4763	broad.mit.edu	37	17	29548871	29548871	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:29548871C>T	uc002hgg.2	+	15	1978	c.1645C>T	c.(1645-1647)CTG>TTG	p.L549L	NF1_uc002hgf.1_Silent_p.L549L|NF1_uc002hgh.2_Silent_p.L549L|NF1_uc010csn.1_Silent_p.L409L	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	549			L -> P (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCAGGCTCTGCTGGTTCT	0.308		NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			25	33					0	0	0	0
LIG3	3980	broad.mit.edu	37	17	33321400	33321400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33321400G>A	uc002hik.1	+	9	1669	c.1561G>A	c.(1561-1563)GAC>AAC	p.D521N	LIG3_uc002hij.2_Missense_Mutation_p.D521N|LIG3_uc010cth.1_Missense_Mutation_p.D530N	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	521					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	TAAGAATGGAGACCACTTCAG	0.517		NA						Other_BER_factors					17	74					0	0	0	0
RAD51L3	5892	broad.mit.edu	37	17	33433486	33433486	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33433486C>T	uc002hir.2	-	6	751	c.495G>A	c.(493-495)CGG>CGA	p.R165R	RFFL_uc002hiq.2_Silent_p.R6R|RAD51L3_uc010ctj.2_5'UTR|RAD51L3_uc010wcd.1_Silent_p.R185R|RAD51L3_uc002his.2_Silent_p.R53R|RAD51L3_uc010ctk.2_Silent_p.R46R|RAD51L3_uc010wce.1_Silent_p.R46R|RAD51L3_uc002hit.2_Silent_p.R46R|RAD51L3_uc002hiu.2_5'UTR|RAD51L3_uc010wcf.1_RNA|RAD51L3_uc002hiw.1_RNA|RAD51L3_uc002hiv.1_RNA|RAD51L3_uc010ctl.1_RNA|RAD51L3_uc010ctm.1_RNA	NM_002878	NP_002869	O75771	RA51D_HUMAN	RAD51-like 3 isoform 1	165					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCTGGATCCTCCGGAGAGCTT	0.567		NA						Direct_reversal_of_damage|Homologous_recombination					9	17					0	0	0	0
SLFN11	91607	broad.mit.edu	37	17	33679468	33679468	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:33679468C>T	uc010ctp.2	-	7	3055	c.2613G>A	c.(2611-2613)AGG>AGA	p.R871R	SLFN11_uc010ctq.2_Silent_p.R871R|SLFN11_uc002hjh.3_Silent_p.R871R|SLFN11_uc002hjg.3_Silent_p.R871R|SLFN11_uc010ctr.2_Silent_p.R871R	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	871						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTCAGCTGTCCTTGGATGGA	0.483		NA											38	169					0	0	0	0
TADA2A	6871	broad.mit.edu	37	17	35783695	35783695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:35783695C>T	uc002hnt.2	+	3	269	c.112C>T	c.(112-114)CCT>TCT	p.P38S	TADA2A_uc002hnu.1_Missense_Mutation_p.P38S|TADA2A_uc002hnv.2_Missense_Mutation_p.P38S|TADA2A_uc010wdd.1_Missense_Mutation_p.P38S|TADA2A_uc002hnw.2_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	38	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TGGGCCACCTCCTTTTTTCCT	0.443		NA											34	124					0	0	0	0
MLLT6	4302	broad.mit.edu	37	17	36876005	36876005	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:36876005C>T	uc002hqi.3	+	14	2025	c.2012C>T	c.(2011-2013)TCC>TTC	p.S671F	MLLT6_uc002hqj.2_Missense_Mutation_p.S106F|MLLT6_uc002hqk.3_Missense_Mutation_p.S2F	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	671					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GGCCGCAGGTCCCCCATCAGC	0.682		NA	T	MLL	AL								4	27					0	0	0	0
MED1	5469	broad.mit.edu	37	17	37564132	37564132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37564132G>A	uc002hrv.3	-	17	4554	c.4342C>T	c.(4342-4344)CCC>TCC	p.P1448S	MED1_uc010wee.1_Missense_Mutation_p.P1276S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1448	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTATGGCTGGGAGAGCCACGC	0.488		NA								HNSCC(31;0.082)			21	69					0	0	0	0
MED1	5469	broad.mit.edu	37	17	37565007	37565007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:37565007G>A	uc002hrv.3	-	17	3679	c.3467C>T	c.(3466-3468)TCT>TTT	p.S1156F	MED1_uc010wee.1_Missense_Mutation_p.S984F|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1156	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTTATGGGAGAGGAGCCTGG	0.468		NA								HNSCC(31;0.082)			13	45					0	0	0	0
PSMD3	5709	broad.mit.edu	37	17	38145046	38145046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:38145046C>T	uc002htn.1	+	4	824	c.660C>T	c.(658-660)TTC>TTT	p.F220F	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.F121F	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TCTATGAGTTCCTGGACAAGC	0.547		NA											18	120					0	0	0	0
KRT40	125115	broad.mit.edu	37	17	39138698	39138698	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39138698G>A	uc010cxh.1	-	5	709	c.548C>T	c.(547-549)TCC>TTC	p.S183F	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	183	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				CTGGCGAAGGGACAGTTCACT	0.527		NA											15	78					0	0	0	0
KRT40	125115	broad.mit.edu	37	17	39140175	39140175	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39140175C>T	uc010cxh.1	-	3	512	c.351G>A	c.(349-351)CTG>CTA	p.L117L	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	117	Rod.|Coil 1A.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TCCTGGATTCCAGCTCTGCGT	0.493		NA											49	159					0	0	0	0
KRT38	8687	broad.mit.edu	37	17	39596777	39596778	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39596777_39596778CC>TT	uc002hwq.1	-	1	819_820	c.396_397GG>AA	c.(394-399)CTGGAG>CTAAAG	p.E133K		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	133	Coil 1A.|Rod.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				AGTGTGGCCTCCAGCTCCGCAT	0.594		NA											18	101					0	0	0	0
KRT9	3857	broad.mit.edu	37	17	39724598	39724598	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39724598G>A	uc002hxe.3	-	6	1276	c.1210C>T	c.(1210-1212)CGC>TGC	p.R404C	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	404	Rod.|Coil 2.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				CCACAGTAGCGGTTCTTCGTG	0.507		NA											14	86					0	0	0	0
KRT14	3861	broad.mit.edu	37	17	39740157	39740157	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740157C>T	uc002hxf.1	-	4	843	c.782G>A	c.(781-783)AGA>AAA	p.R261K	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R261K	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	261	Rod.|Linker 12.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				CACCTGGCCTCTCAGGGCATT	0.572		NA											12	41					0	0	0	0
KRT14	3861	broad.mit.edu	37	17	39740512	39740512	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740512C>T	uc002hxf.1	-	3	823	c.762G>A	c.(760-762)GAG>GAA	p.E254E	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.E254E	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	254	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				TTCTCACCTCCTCGTGGTTCT	0.393		NA											14	126					0	0	0	0
KRT14	3861	broad.mit.edu	37	17	39740538	39740538	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39740538G>A	uc002hxf.1	-	3	797	c.736C>T	c.(736-738)CTG>TTG	p.L246L	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.L246L	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	246	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)				AGGTAGGCCAGCTCCTCCTTC	0.468		NA											27	122					0	0	0	0
GHDC	84514	broad.mit.edu	37	17	40344298	40344298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40344298C>T	uc002hzd.2	-	4	1334	c.850G>A	c.(850-852)GGA>AGA	p.G284R	GHDC_uc002hzg.1_Missense_Mutation_p.G284R|GHDC_uc010wgg.1_Missense_Mutation_p.G245R|GHDC_uc002hze.3_Missense_Mutation_p.G284R|GHDC_uc002hzf.3_Missense_Mutation_p.G284R|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	284						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAGGCTAGTCCTTGGCACCAC	0.632		NA											20	130					0	0	0	0
PTRF	284119	broad.mit.edu	37	17	40556780	40556780	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40556780G>A	uc002hzo.2	-	2	1257	c.1098C>T	c.(1096-1098)AGC>AGT	p.S366S	PTRF_uc010wgi.1_Silent_p.S348S	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	366					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCACGTCGGGGCTGCTCCCGC	0.736		NA											4	9					0	0	0	0
TUBG1	7283	broad.mit.edu	37	17	40765002	40765002	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40765002C>T	uc002ian.2	+	6	915	c.517C>T	c.(517-519)CCC>TCC	p.P173S		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	173					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTCAGTGTTTCCCAACCAGGA	0.557		NA											19	95					0	0	0	0
CCR10	2826	broad.mit.edu	37	17	40832611	40832612	+	Missense_Mutation	DNP	CC	CC	TT	rs138478451		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40832611_40832612CC>TT	uc002iax.3	-	2	52_53	c.48_49GG>AA	c.(46-51)GGGGAT>GGAAAT	p.D17N	CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	CC chemokine receptor 10	17	Extracellular (Potential).					integral to plasma membrane					0		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCCTCTTCATCCCCAGAGTAAT	0.594		NA											6	31					0	0	0	0
WNK4	65266	broad.mit.edu	37	17	40945659	40945659	+	Missense_Mutation	SNP	G	G	A	rs149389156	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:40945659G>A	uc002ibj.2	+	12	2228	c.2207G>A	c.(2206-2208)CGG>CAG	p.R736Q	WNK4_uc010wgx.1_Missense_Mutation_p.R400Q|WNK4_uc002ibk.1_Missense_Mutation_p.R508Q|WNK4_uc010wgy.1_Missense_Mutation_p.R80Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	736					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTCTCAGACGGATTCGGGAG	0.542		NA											15	61					0	0	0	0
AOC2	314	broad.mit.edu	37	17	41001235	41001235	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41001235C>T	uc002ibu.2	+	2	1756	c.1721C>T	c.(1720-1722)TCC>TTC	p.S574F	AOC2_uc002ibt.2_Missense_Mutation_p.S574F|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	574					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCTTTTTCCTTGGGAAGC	0.612		NA											22	42					0	0	0	0
VAT1	10493	broad.mit.edu	37	17	41170069	41170069	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41170069C>T	uc002icm.1	-	3	870	c.750G>A	c.(748-750)AAG>AAA	p.K250K	VAT1_uc010cyw.1_Silent_p.K116K|VAT1_uc010whk.1_Silent_p.K182K	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	250						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAAATCTTCTTGATCTCAT	0.547		NA											23	73					0	0	0	0
ETV4	2118	broad.mit.edu	37	17	41605896	41605896	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:41605896G>A	uc002idw.2	-	13	1574	c.1446C>T	c.(1444-1446)TAC>TAT	p.Y482Y	ETV4_uc002idv.2_Silent_p.Y205Y|ETV4_uc010wih.1_Silent_p.Y428Y|ETV4_uc010czh.2_Silent_p.Y481Y|ETV4_uc010wii.1_Silent_p.Y443Y|ETV4_uc002idx.2_Silent_p.Y482Y|ETV4_uc010wij.1_Silent_p.Y443Y	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	482					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)		GCTAGTAAGAGTAGCCACCCT	0.602		NA	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								8	24					0	0	0	0
ASB16	92591	broad.mit.edu	37	17	42248418	42248419	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:42248418_42248419GG>AA	uc002ifl.1	+	1	345_346	c.261_262GG>AA	c.(259-264)GTGGAG>GTAAAG	p.E88K	ASB16_uc002ifm.1_RNA	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	88					intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACATGATTGTGGAGACTGTGAG	0.465		NA											4	45					0	0	0	0
CDC27	996	broad.mit.edu	37	17	45234385	45234385	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45234385G>A	uc002ild.3	-	7	863	c.736C>T	c.(736-738)CCA>TCA	p.P246S	CDC27_uc002ile.3_Missense_Mutation_p.P246S|CDC27_uc002ilf.3_Missense_Mutation_p.P246S|CDC27_uc010wkp.1_Missense_Mutation_p.P185S|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						GTTCCCAGTGGGACAGTATCA	0.363		NA											7	72					0	0	0	0
ITGB3	3690	broad.mit.edu	37	17	45368447	45368447	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:45368447G>A	uc002ilj.2	+	9	1273	c.1253G>A	c.(1252-1254)GGA>GAA	p.G418E	ITGB3_uc002ili.1_Missense_Mutation_p.G418E|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	418	Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542		NA											19	60					0	0	0	0
FAM117A	81558	broad.mit.edu	37	17	47797715	47797715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47797715C>T	uc002ipk.2	-	4	615	c.546G>A	c.(544-546)GGG>GGA	p.G182G	FAM117A_uc010wlz.1_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	182										ovary(1)	1						CTGCGTGGTCCCCTAGGAGTG	0.582		NA											38	64					0	0	0	0
FAM117A	81558	broad.mit.edu	37	17	47841404	47841404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:47841404G>A	uc002ipk.2	-	1	115	c.46C>T	c.(46-48)CCG>TCG	p.P16S	FAM117A_uc010wlz.1_Intron	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	16										ovary(1)	1						ccgcgccccggcccccaggca	0.512		NA											3	2					0	0	0	0
SGCA	6442	broad.mit.edu	37	17	48252743	48252744	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48252743_48252744GG>AA	uc002iqi.2	+	9	1145_1146	c.1109_1110GG>AA	c.(1108-1110)CGG>CAA	p.R370Q	SGCA_uc002iqj.2_Missense_Mutation_p.R246Q|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	370	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						ACAGGTGAGCGGCTGCCTCCCC	0.649		NA											5	22					0	0	0	0
TMEM92	162461	broad.mit.edu	37	17	48356592	48356592	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48356592G>A	uc002iqn.1	+	5	433	c.403G>A	c.(403-405)GAG>AAG	p.E135K		NM_153229	NP_694961	Q6UXU6	TMM92_HUMAN	transmembrane protein 92 precursor	135	Pro-rich.|Cytoplasmic (Potential).					integral to membrane					0						AACTCCCACAGAGCCACCCCC	0.597		NA											31	197					0	0	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669144	48669144	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:48669144G>A	uc002irk.1	+	12	3056	c.2684G>A	c.(2683-2685)CGG>CAG	p.R895Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R895Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R895Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R895Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R808Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R808Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R808Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R808Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R808Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R808Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	895	Extracellular (Potential).|II.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTCTGAGCGGGATGGGGAC	0.602		NA											10	37					0	0	0	0
SPAG9	9043	broad.mit.edu	37	17	49098644	49098644	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:49098644G>A	uc002itc.2	-	7	1075	c.866C>T	c.(865-867)CCT>CTT	p.P289L	SPAG9_uc002itb.2_Missense_Mutation_p.P275L|SPAG9_uc002itd.2_Missense_Mutation_p.P275L|SPAG9_uc002itf.2_Missense_Mutation_p.P110L|SPAG9_uc002ita.2_Missense_Mutation_p.P132L|SPAG9_uc002ite.2_Missense_Mutation_p.P119L	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	289					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGTATCAGTAGGAATTGTTGC	0.393		NA											31	138					0	0	0	0
KIF2B	84643	broad.mit.edu	37	17	51901498	51901498	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:51901498G>A	uc002iua.2	+	1	1260	c.1104G>A	c.(1102-1104)TTG>TTA	p.L368L	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	368	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ATGATTTGTTGAACTGGAAGA	0.463		NA											13	85					0	0	0	0
AKAP1	8165	broad.mit.edu	37	17	55184035	55184035	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:55184035G>A	uc002iux.2	+	2	1441	c.1210G>A	c.(1210-1212)GAG>AAG	p.E404K	AKAP1_uc010wnl.1_Missense_Mutation_p.E404K|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.E404K	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	404					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					AGACACTGCGGAGCCTGCCAC	0.622		NA											11	64					0	0	0	0
EPX	8288	broad.mit.edu	37	17	56274318	56274318	+	Missense_Mutation	SNP	C	C	T	rs138263557		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56274318C>T	uc002ivq.2	+	7	906	c.820C>T	c.(820-822)CGC>TGC	p.R274C		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	274					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CAATGACCCCCGCATCAAGAA	0.483		NA											21	68					0	0	0	0
EPX	8288	broad.mit.edu	37	17	56280672	56280672	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56280672G>A	uc002ivq.2	+	11	2025	c.1939G>A	c.(1939-1941)GGA>AGA	p.G647R		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	647				RDGDRFWWQKRGVFTK -> ETETGSGGRTRCFHQ (in Ref. 3; AA sequence).	hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						AGCCCGAGACGGAGACAGGTA	0.507		NA											22	39					0	0	0	0
MKS1	54903	broad.mit.edu	37	17	56285488	56285488	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56285488G>A	uc002ivr.1	-	13	1218	c.1143C>T	c.(1141-1143)TTC>TTT	p.F381F	MKS1_uc010wnq.1_Silent_p.F178F|MKS1_uc002ivs.1_Silent_p.F381F	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	381	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						CCTCATGGAGGAAGAAGGCTT	0.527		NA											10	50					0	0	0	0
RNF43	54894	broad.mit.edu	37	17	56435132	56435132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56435132G>A	uc002iwf.2	-	8	3961	c.2005C>T	c.(2005-2007)CCC>TCC	p.P669S	RNF43_uc010wnv.1_Missense_Mutation_p.P628S|RNF43_uc002iwh.3_Missense_Mutation_p.P669S|RNF43_uc002iwg.3_Missense_Mutation_p.P669S|RNF43_uc010dcw.2_Missense_Mutation_p.P542S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	669	Pro-rich.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATCCTGGGGCCGAGAGCCA	0.597		NA											33	163					0	0	0	0
C17orf47	284083	broad.mit.edu	37	17	56620991	56620991	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56620991C>T	uc002iwq.1	-	1	693	c.557G>A	c.(556-558)GGA>GAA	p.G186E	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	186										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTCTGACTCCTTGGGGGTT	0.433		NA											33	154					0	0	0	0
TEX14	56155	broad.mit.edu	37	17	56664947	56664947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:56664947C>T	uc010dcz.1	-	17	2919	c.2801G>A	c.(2800-2802)TGG>TAG	p.W934*	TEX14_uc002iwr.1_Nonsense_Mutation_p.W928*|TEX14_uc002iws.1_Nonsense_Mutation_p.W928*|TEX14_uc010dda.1_Nonsense_Mutation_p.W708*	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	934						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCACTTTTCCATTTTAAGTG	0.328		NA									OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	0	0
HEATR6	63897	broad.mit.edu	37	17	58143574	58143574	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58143574G>A	uc002iyk.1	-	9	1429	c.1412C>T	c.(1411-1413)CCA>CTA	p.P471L	HEATR6_uc010ddk.1_Missense_Mutation_p.P10L|HEATR6_uc010wos.1_Missense_Mutation_p.P303L	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	471	HEAT 2.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCTTACCTTTGGAGAAGGGTC	0.383		NA											41	39					0	0	0	0
CA4	762	broad.mit.edu	37	17	58235145	58235145	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58235145T>G	uc002iym.3	+	5	603	c.509T>G	c.(508-510)GTG>GGG	p.V170G	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	170					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCCTTTCTGGTGGAGGTGGGA	0.587		NA											5	35					0	0	0	0
APPBP2	10513	broad.mit.edu	37	17	58539249	58539249	+	Missense_Mutation	SNP	T	T	A	rs144286983		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58539249T>A	uc002iys.1	-	8	1146	c.858A>T	c.(856-858)AAA>AAT	p.K286N	APPBP2_uc010ddl.1_Missense_Mutation_p.K215N	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	286					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TATCAGAATATTTTGGGTGTT	0.284		NA											66	165					0	0	0	0
PPM1D	8493	broad.mit.edu	37	17	58740467	58740467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:58740467C>T	uc002iyt.1	+	6	1594	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	458					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGAGATAGCTCGAGAGAATGT	0.433		NA									OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	17	71					0	0	0	0
ACE	1636	broad.mit.edu	37	17	61574518	61574518	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61574518C>T	uc002jau.1	+	25	3734	c.3712C>T	c.(3712-3714)CCA>TCA	p.P1238S	ACE_uc002jav.1_Missense_Mutation_p.P664S|ACE_uc010ddv.1_Missense_Mutation_p.P465S|ACE_uc010wpj.1_Missense_Mutation_p.P623S|ACE_uc002jaw.1_Intron|ACE_uc010wpk.1_Missense_Mutation_p.P443S	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1238	Extracellular (Potential).				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGGCCCCTCCCAGACAGCGG	0.547		NA											7	20					0	0	0	0
GH2	2689	broad.mit.edu	37	17	61957743	61957743	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:61957743T>G	uc002jco.1	-	5	654	c.592A>C	c.(592-594)AAG>CAG	p.K198Q	GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Silent_p.T196T|GH2_uc002jcn.1_Missense_Mutation_p.K183Q	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	198						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GTCTCGACCTTGTCCATGTCC	0.572		NA											29	57					0	0	0	0
SCN4A	6329	broad.mit.edu	37	17	62050171	62050171	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62050171G>A	uc002jds.1	-	1	108	c.31C>T	c.(31-33)CCT>TCT	p.P11S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	11				VP -> AR (in Ref. 1; AAA60554).	muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGGCCCAGAGGCACCAGGGTG	0.677		NA											10	18					0	0	0	0
POLG2	11232	broad.mit.edu	37	17	62479090	62479090	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62479090G>A	uc002jei.2	-	6	1220	c.1137C>T	c.(1135-1137)GCC>GCT	p.A379A		NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	379					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTTAATAGGGGCTAAACAAG	0.353		NA											9	62					0	0	0	0
SMURF2	64750	broad.mit.edu	37	17	62577101	62577101	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:62577101G>A	uc002jep.1	-	8	966	c.578C>T	c.(577-579)TCC>TTC	p.S193F	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	193					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGAATATTCGGATGCCGGTCT	0.383		NA											13	75					0	0	0	0
APOH	350	broad.mit.edu	37	17	64222175	64222175	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:64222175G>A	uc002jfn.3	-	3	368	c.309C>T	c.(307-309)CCC>CCT	p.P103P		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	103	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGATCGTGTTGGGATATTCAA	0.363		NA											27	28					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65105256	65105256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65105256C>T	uc010wqk.1	-	29	4655	c.4468G>A	c.(4468-4470)GGA>AGA	p.G1490R	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G1489R|HELZ_uc010der.2_Missense_Mutation_p.G33R	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAGGTAATCCCGAGGGGTTC	0.448		NA											15	102					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65190132	65190132	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65190132G>A	uc010wqk.1	-	9	695	c.508C>T	c.(508-510)CCA>TCA	p.P170S	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P170S	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAGGTGGTGGGCGGAAATGC	0.368		NA											13	23					0	0	0	0
NOL11	25926	broad.mit.edu	37	17	65715796	65715796	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:65715796G>A	uc002jgd.1	+	2	151	c.148G>A	c.(148-150)GAT>AAT	p.D50N	NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	50						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAGGTTTCTGATCAGAAACC	0.323		NA											10	24					0	0	0	0
ARSG	22901	broad.mit.edu	37	17	66352844	66352844	+	Silent	SNP	C	C	T	rs115207014	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:66352844C>T	uc002jhc.2	+	6	1399	c.603C>T	c.(601-603)CTC>CTT	p.L201L	ARSG_uc002jhb.1_Silent_p.L37L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	201					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACGTGGCCCTCCCTCTTTATG	0.483		NA											12	40					0	0	0	0
ABCA6	23460	broad.mit.edu	37	17	67124789	67124789	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:67124789G>A	uc002jhw.1	-	8	1265	c.1090C>T	c.(1090-1092)CCT>TCT	p.P364S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	364	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AAGGCAAAAGGGCTACAAATA	0.373		NA											15	107					0	0	0	0
DNAI2	64446	broad.mit.edu	37	17	72310278	72310278	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72310278G>A	uc002jkf.2	+	13	1840	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	581					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AAGTCCagaagaagaccaggt	0.388		NA							Kartagener_syndrome				11	45					0	0	0	0
GRIN2C	2905	broad.mit.edu	37	17	72843643	72843643	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72843643G>A	uc002jlt.1	-	9	1961	c.1805C>T	c.(1804-1806)TCC>TTC	p.S602F	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S602F	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	602	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGCCACACGGACTTGCCGAT	0.632		NA											11	36					0	0	0	0
USH1G	124590	broad.mit.edu	37	17	72916606	72916606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72916606C>T	uc002jme.1	-	2	508	c.325G>A	c.(325-327)GGC>AGC	p.G109S	USH1G_uc010wro.1_Missense_Mutation_p.G6S	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	109	ANK 3.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCATGTGGCCCTTCATGGCA	0.607		NA											48	50					0	0	0	0
C17orf28	283987	broad.mit.edu	37	17	72950299	72950299	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:72950299C>T	uc002jmj.3	-	14	1947	c.1798G>A	c.(1798-1800)GAG>AAG	p.E600K	C17orf28_uc002jmi.2_Missense_Mutation_p.E2K|C17orf28_uc010wrs.1_Missense_Mutation_p.E399K	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	600						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CGGGAGCCCTCCATGGAGGTG	0.687		NA											4	17					0	0	0	0
RNF157	114804	broad.mit.edu	37	17	74151749	74151749	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74151749G>A	uc002jqz.2	-	15	1661	c.1592C>T	c.(1591-1593)ACC>ATC	p.T531I	RNF157_uc002jra.2_Missense_Mutation_p.T531I|uc002jrb.1_RNA	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	531	Ser-rich.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAGGAGACGGTGTCAGTGCT	0.622		NA											18	11					0	0	0	0
QRICH2	84074	broad.mit.edu	37	17	74276160	74276160	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74276160C>T	uc002jrd.1	-	12	4384	c.4204G>A	c.(4204-4206)GAG>AAG	p.E1402K	QRICH2_uc010wsz.1_Intron|QRICH2_uc010dgw.1_Missense_Mutation_p.E246K	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1402							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						GGGGGGCGCTCCCTGAGCTGC	0.687		NA											11	61					0	0	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475253	74475253	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74475253C>T	uc002jrq.1	-	5	759	c.466G>A	c.(466-468)GCC>ACC	p.A156T	RHBDF2_uc002jrp.1_Missense_Mutation_p.A127T|RHBDF2_uc002jrr.1_Missense_Mutation_p.A8T|RHBDF2_uc010wtf.1_Missense_Mutation_p.A127T|RHBDF2_uc002jrs.1_Missense_Mutation_p.A127T	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	156	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						TGGCACGAGGCCTTCAGGCGG	0.677		NA											14	42					0	0	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621571	74621571	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74621571G>A	uc002jsh.2	-	9	1818	c.1644C>T	c.(1642-1644)CGC>CGT	p.R548R	ST6GALNAC1_uc002jsi.2_Silent_p.R416R|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	548	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GATCAGAAAAGCGCTCATGGC	0.488		NA											40	33					0	0	0	0
SFRS2	6427	broad.mit.edu	37	17	74732409	74732409	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:74732409C>A	uc002jsv.2	-	2	670	c.500G>T	c.(499-501)CGA>CTA	p.R167L	SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R167L|SFRS2_uc010wtg.1_Missense_Mutation_p.R155L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	NM_003016	NP_003007	Q01130	SRSF2_HUMAN	splicing factor, arginine/serine-rich 2	167	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity				0						CTTGGACCTTCGTGCGGATCT	0.622		NA											21	92					2.28e-05	2.32e-05	1	0
DNAH17	8632	broad.mit.edu	37	17	76447632	76447632	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:76447632G>A	uc010dhp.1	-	11	1875	c.1653C>T	c.(1651-1653)TTC>TTT	p.F551F	DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGACCAGGAAGTTGATGA	0.557		NA											58	143					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78319833	78319833	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78319833C>T	uc002jyh.1	+	4	2140	c.1917C>T	c.(1915-1917)TAC>TAT	p.Y639Y		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGGTATACCGGGTCCATG	0.557		NA											11	42					0	0	0	0
RNF213	57674	broad.mit.edu	37	17	78332094	78332094	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:78332094C>T	uc002jyh.1	+	12	5311	c.5088C>T	c.(5086-5088)ACC>ACT	p.T1696T	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.T78T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGCACACCCTCTGGAAGC	0.542		NA											12	41					0	0	0	0
SLC38A10	124565	broad.mit.edu	37	17	79234188	79234188	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79234188G>A	uc002jzz.1	-	11	1513	c.1138C>T	c.(1138-1140)CTG>TTG	p.L380L	SLC38A10_uc002jzy.1_Silent_p.L298L|SLC38A10_uc002kab.2_Silent_p.L380L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	380	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGACCCACAGCACCACCTGA	0.677		NA											6	13					0	0	0	0
ACTG1	71	broad.mit.edu	37	17	79477846	79477847	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79477846_79477847GG>AA	uc002kaj.1	-	5	1022_1023	c.997_998CC>TT	c.(997-999)CCA>TTA	p.P333L	ACTG1_uc002kah.1_Missense_Mutation_p.P211L|ACTG1_uc002kai.1_Missense_Mutation_p.P290L|ACTG1_uc002kak.1_Missense_Mutation_p.P333L|ACTG1_uc010wun.1_Missense_Mutation_p.P333L|ACTG1_uc002kal.1_Missense_Mutation_p.P333L|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	333					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTGCGCTCTGGGGGTGCGATG	0.629		NA											47	49					0	0	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536083	79536083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79536083G>A	uc002kat.3	-	14	1590	c.1408C>T	c.(1408-1410)CCA>TCA	p.P470S	NPLOC4_uc002kau.3_Missense_Mutation_p.P470S|NPLOC4_uc010wur.1_Missense_Mutation_p.P309S|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	470					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATAGGAAATGGATTTTGCGAA	0.368		NA											16	79					0	0	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612449	79612449	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79612449C>T	uc010die.2	+	2	558	c.468C>T	c.(466-468)GGC>GGT	p.G156G	TSPAN10_uc002kaw.1_Silent_p.G156G|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	156	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTCTGGGGGCATCCTTGCCT	0.687		NA											12	7					0	0	0	0
PYCR1	5831	broad.mit.edu	37	17	79892293	79892293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79892293C>T	uc002kcr.1	-	6	984	c.706G>A	c.(706-708)GGG>AGG	p.G236R	PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.G236R|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.G263R|PYCR1_uc002kct.1_Missense_Mutation_p.G236R|PYCR1_uc002kcu.1_Missense_Mutation_p.G205R|PYCR1_uc010wve.1_Missense_Mutation_p.G157R	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	236					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ATGGTGGCCCCACCAGGAGAG	0.642		NA											8	32					0	0	0	0
RAC3	5881	broad.mit.edu	37	17	79990328	79990328	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:79990328C>T	uc002kdf.2	+	2	207	c.101C>T	c.(100-102)CCC>CTC	p.P34L		NM_005052	NP_005043	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho	34	Effector region (Potential).				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGTACATCCCCACCGTGTGA	0.677		NA											24	31					0	0	0	0
DUS1L	64118	broad.mit.edu	37	17	80019150	80019150	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80019150G>A	uc002kdq.2	-	7	1196	c.777C>T	c.(775-777)ATC>ATT	p.I259I	DUS1L_uc002kdp.2_Silent_p.I128I|DUS1L_uc002kdr.2_Silent_p.I259I|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Silent_p.I242I	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	259					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCTCCCGCACGATGTCCAGAT	0.672		NA											8	23					0	0	0	0
FASN	2194	broad.mit.edu	37	17	80046905	80046905	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80046905G>A	uc002kdu.2	-	14	2361	c.2244C>T	c.(2242-2244)GCC>GCT	p.A748A	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	748	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGTGCCACAGGGCCTCCTGGA	0.697		NA											9	9					0	0	0	0
FASN	2194	broad.mit.edu	37	17	80049491	80049491	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80049491G>A	uc002kdu.2	-	9	1216	c.1099C>T	c.(1099-1101)CCA>TCA	p.P367S	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	367	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACAGCGCTGGGATCTCAGGG	0.682		NA											3	13					0	0	0	0
RAB40B	10966	broad.mit.edu	37	17	80622390	80622390	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80622390C>T	uc002kft.2	-	2	311	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	RAB40B_uc002kfs.2_RNA	NM_006822	NP_006813	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)	1	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTTCACCCGCCGCCCGTC	0.642		NA											31	111					0	0	0	0
FN3K	64122	broad.mit.edu	37	17	80708411	80708411	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:80708411C>T	uc010wvs.1	+	6	771	c.710C>T	c.(709-711)TCC>TTC	p.S237F	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	237					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GACCCGGCTTCCTTCTATGGC	0.572		NA											39	201					0	0	0	0
MYOM1	8736	broad.mit.edu	37	18	3187612	3187612	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3187612A>C	uc002klp.2	-	5	1129	c.795T>G	c.(793-795)CAT>CAG	p.H265Q	MYOM1_uc002klq.2_Missense_Mutation_p.H265Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	265						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TCAGCTTGGCATGATATGTCT	0.358		NA											13	48					0	0	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534553	3534553	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:3534553G>A	uc002kmf.2	-	7	2185	c.2118C>T	c.(2116-2118)TTC>TTT	p.F706F	DLGAP1_uc010wyz.1_Silent_p.F706F|DLGAP1_uc002kme.1_Silent_p.F404F|DLGAP1_uc010dkn.2_Silent_p.F414F|DLGAP1_uc010wyw.1_Silent_p.F412F|DLGAP1_uc010wyx.1_Silent_p.F428F|DLGAP1_uc010wyy.1_Silent_p.F390F|DLGAP1_uc002kmg.2_Silent_p.F404F	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	706					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GATTATCATGGAAGTCCAGGT	0.483		NA											11	34					0	0	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6239847	6239847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:6239847G>A	uc002kmz.3	-	9	737	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.Q193*|L3MBTL4_uc002kmy.3_Nonsense_Mutation_p.Q31*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	193	MBT 2.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				ATTCCAACCTGAAATTCTTTA	0.468		NA											8	46					0	0	0	0
PTPRM	5797	broad.mit.edu	37	18	8376134	8376135	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:8376134_8376135GG>AA	uc002knn.3	+	23	3726_3727	c.3223_3224GG>AA	c.(3223-3225)GGA>AAA	p.G1075K	PTPRM_uc010dkv.2_Missense_Mutation_p.G1088K|PTPRM_uc010wzl.1_Missense_Mutation_p.G862K	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1075	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CGGCCTGCTGGGATTCGTGCGG	0.589		NA											9	54					0	0	0	0
ANKRD12	23253	broad.mit.edu	37	18	9211708	9211708	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9211708C>T	uc002knv.2	+	6	835	c.578C>T	c.(577-579)GCT>GTT	p.A193V	ANKRD12_uc010wzn.1_Missense_Mutation_p.A193V|ANKRD12_uc002knw.2_Missense_Mutation_p.A170V|ANKRD12_uc002knx.2_Missense_Mutation_p.A170V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	193	ANK 1.					nucleus				ovary(2)|central_nervous_system(1)	3						CACATGGCTGCTATTCGAGGA	0.363		NA											10	43					0	0	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258557	9258557	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9258557C>T	uc002knv.2	+	9	5549	c.5292C>T	c.(5290-5292)TCC>TCT	p.S1764S	ANKRD12_uc002knw.2_Silent_p.S1741S|ANKRD12_uc002knx.2_Silent_p.S1741S|ANKRD12_uc010dkx.1_Silent_p.S1471S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1764						nucleus				ovary(2)|central_nervous_system(1)	3						ACAGTGAATCCTCATCTCCTA	0.398		NA											8	27					0	0	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570373	9570373	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9570373A>T	uc002koe.1	-	11	1473	c.1355T>A	c.(1354-1356)TTG>TAG	p.L452*	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.L298*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.L435*|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	452					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						GGAGTTATACAATTCCTGATC	0.433		NA											21	80					0	0	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887690	9887690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:9887690C>T	uc002koi.3	+	2	1663	c.1214C>T	c.(1213-1215)CCC>CTC	p.P405L	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.P338L	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	405	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|20.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						ATTGACATCCCCAAGTCCCCA	0.547		NA											11	75					0	0	0	0
MC2R	4158	broad.mit.edu	37	18	13884843	13884843	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:13884843G>A	uc002ksp.1	-	2	852	c.675C>T	c.(673-675)CTC>CTT	p.L225L		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	225	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAAGACCCCGAGCAGGATGG	0.552		NA											20	33					0	0	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995654	19995654	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:19995654C>T	uc002ktv.1	-	1	2225	c.2121G>A	c.(2119-2121)AGG>AGA	p.R707R		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	707	Pro-rich.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGGACATCCCTTGGAGAAA	0.507		NA											18	74					0	0	0	0
C18orf45	85019	broad.mit.edu	37	18	21001409	21001409	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21001409C>T	uc002kuf.2	-	3	229	c.120_splice	c.e3-1	p.G40_splice	C18orf45_uc010xaq.1_Splice_Site|C18orf45_uc010xar.1_Splice_Site|C18orf45_uc002kug.2_Splice_Site|C18orf45_uc002kuh.2_Intron	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	hypothetical protein LOC85019							integral to membrane					0	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)					CGTCTGCCACCTGGAAAGGAC	0.493		NA											8	31					0	0	0	0
LAMA3	3909	broad.mit.edu	37	18	21395193	21395193	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:21395193G>A	uc002kuq.2	+	16	2016	c.1930G>A	c.(1930-1932)GAG>AAG	p.E644K	LAMA3_uc002kur.2_Missense_Mutation_p.E644K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	644	Domain V.|Laminin EGF-like 7.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAACTGGAGAGTGTAGGCA	0.493		NA											5	13					0	0	0	0
CDH2	1000	broad.mit.edu	37	18	25570168	25570168	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:25570168A>G	uc002kwg.2	-	10	1950	c.1491T>C	c.(1489-1491)TTT>TTC	p.F497F	CDH2_uc010xbn.1_Silent_p.F466F	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	497	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						GATTGGGGGCAAAATAAGGGT	0.458		NA											18	59					0	0	0	0
RNF138	51444	broad.mit.edu	37	18	29706662	29706662	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:29706662C>T	uc002kxg.2	+	7	1007	c.568C>T	c.(568-570)CCT>TCT	p.P190S	RNF138_uc002kxh.2_Missense_Mutation_p.P96S	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	190					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						ATAGACATGTCCTATTTGTGT	0.299		NA											15	50					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31319226	31319226	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31319226G>A	uc010dmg.1	+	11	1913	c.1858G>A	c.(1858-1860)GGA>AGA	p.G620R	ASXL3_uc002kxq.2_Missense_Mutation_p.G327R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	620	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GAGCCCAGAGGGAGCCTGTAC	0.483		NA											6	13					0	0	0	0
NOL4	8715	broad.mit.edu	37	18	31432930	31432930	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:31432930C>T	uc010dmi.2	-	11	2022	c.1793G>A	c.(1792-1794)AGA>AAA	p.R598K	NOL4_uc010xbs.1_Missense_Mutation_p.R313K|NOL4_uc002kxr.3_Missense_Mutation_p.R370K|NOL4_uc010xbt.1_Missense_Mutation_p.R524K|NOL4_uc010dmh.2_Missense_Mutation_p.R460K|NOL4_uc010xbu.1_Missense_Mutation_p.R534K|NOL4_uc002kxt.3_Missense_Mutation_p.R496K	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	598						nucleolus	RNA binding			ovary(3)	3						CAGCTGGGGTCTGGAGTTTGA	0.453		NA											13	44					0	0	0	0
SLC39A6	25800	broad.mit.edu	37	18	33704511	33704511	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:33704511G>A	uc010dmy.2	-	3	1232	c.942C>T	c.(940-942)ATC>ATT	p.I314I	SLC39A6_uc002kzj.2_Silent_p.I39I	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	314	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						TCTTTGGAGGGATTTCAGCCT	0.343		NA											15	62					0	0	0	0
KIAA1632	57724	broad.mit.edu	37	18	43460176	43460176	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43460176T>A	uc002lbm.2	-	32	5631	c.5531A>T	c.(5530-5532)CAG>CTG	p.Q1844L	KIAA1632_uc010xcq.1_Missense_Mutation_p.Q398L|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q719L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1844					autophagy						0						GCTCAGAAGCTGCTCCGCGGA	0.587		NA									OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0	0
KIAA1632	57724	broad.mit.edu	37	18	43464702	43464703	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:43464702_43464703GG>AA	uc002lbm.2	-	30	5283_5284	c.5183_5184CC>TT	c.(5182-5184)TCC>TTT	p.S1728F	KIAA1632_uc010xcq.1_Missense_Mutation_p.S282F|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.S603F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1728					autophagy						0						GAGACAGCAGGGAGCAGAGCCT	0.416		NA											15	29					0	0	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561204	44561204	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44561204C>T	uc002lcr.1	-	1	785	c.432G>A	c.(430-432)CCG>CCA	p.P144P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	144					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGTGAGACCTCGGGTGAGGTC	0.647		NA											15	75					0	0	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595966	44595966	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:44595966G>A	uc002lco.2	+	10	981	c.787G>A	c.(787-789)GTT>ATT	p.V263I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Missense_Mutation_p.V190I	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	335						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						AGAAAAACTCGTTCGGGTAGG	0.358		NA											11	38					0	0	0	0
DCC	1630	broad.mit.edu	37	18	50866165	50866165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:50866165G>A	uc002lfe.1	+	15	2834	c.2247G>A	c.(2245-2247)TTG>TTA	p.L749L	DCC_uc010xdr.1_Silent_p.L597L|DCC_uc010dpf.1_Silent_p.L404L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	749	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCCTCCCTTGAACCCAAACA	0.483		NA											21	62					0	0	0	0
ALPK2	115701	broad.mit.edu	37	18	56246869	56246869	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56246869C>T	uc002lhj.3	-	4	1353	c.1139G>A	c.(1138-1140)GGA>GAA	p.G380E		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	380							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ACAACCCATTCCACTGAGGAA	0.537		NA									OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	16					0	0	0	0
CPLX4	339302	broad.mit.edu	37	18	56985658	56985659	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:56985658_56985659CC>TT	uc002lhy.2	-	1	223_224	c.36_37GG>AA	c.(34-39)CAGGTA>CAAATA	p.V13I		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	13					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				AAATTCTTTACCTGGTTACTTA	0.371		NA											13	50					0	0	0	0
KIAA1468	57614	broad.mit.edu	37	18	59912005	59912005	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:59912005C>T	uc002lil.2	+	11	1844	c.1629C>T	c.(1627-1629)ATC>ATT	p.I543I	KIAA1468_uc002lik.1_Silent_p.I543I|KIAA1468_uc010xel.1_Silent_p.I543I|KIAA1468_uc002lim.2_Silent_p.I187I	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	543							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				AGGAGTTGATCCCCCTCATAT	0.373		NA											16	41					0	0	0	0
BCL2	596	broad.mit.edu	37	18	60795881	60795881	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:60795881C>T	uc002lit.1	-	3	1190	c.697G>A	c.(697-699)GGT>AGT	p.G233S	BCL2_uc002liu.1_Missense_Mutation_p.G233S	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	233	Helical; (Potential).				activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	AGATAGGCACCCAGGGTGATG	0.502		NA	T	IGH@	NHL|CLL								10	33					0	0	0	0
ZNF516	9658	broad.mit.edu	37	18	74154069	74154069	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:74154069G>A	uc010dqx.1	-	2	1177	c.942C>T	c.(940-942)CCC>CCT	p.P314P	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGTGGCGATGGGGTCCAGCT	0.617		NA											7	41					0	0	0	0
CTDP1	9150	broad.mit.edu	37	18	77464883	77464883	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:77464883C>T	uc002lnh.1	+	5	885	c.738C>T	c.(736-738)ACC>ACT	p.T246T	CTDP1_uc002lni.1_Silent_p.T246T|CTDP1_uc010drd.1_Silent_p.T246T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	246	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACGTCTTCACCTTCGGCAGCC	0.607		NA											10	35					0	0	0	0
SHC2	25759	broad.mit.edu	37	19	419011	419011	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:419011C>T	uc002loq.3	-	12	1666	c.1666G>A	c.(1666-1668)GAC>AAC	p.D556N	SHC2_uc002lop.3_Missense_Mutation_p.D297N	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	556	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGTGGTCGATCAGGTGG	0.672		NA											4	2					0	0	0	0
PTBP1	5725	broad.mit.edu	37	19	806556	806556	+	Silent	SNP	G	G	A	rs150400507	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:806556G>A	uc002lpr.2	+	9	1147	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	PTBP1_uc002lpp.2_Silent_p.E373E|PTBP1_uc002lpq.2_Silent_p.E366E|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Silent_p.E343E	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	347	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAACCCAGAGGTACGTGGGC	0.701		NA											4	8					0	0	0	0
ABCA7	10347	broad.mit.edu	37	19	1049288	1049288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1049288G>A	uc002lqw.3	+	18	2635	c.2404G>A	c.(2404-2406)GGC>AGC	p.G802S	ABCA7_uc010dsb.1_Missense_Mutation_p.G664S	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	802					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACCGCCCGGCCTGAGTCC	0.667		NA											21	44					0	0	0	0
ABCA7	10347	broad.mit.edu	37	19	1056930	1056930	+	Silent	SNP	C	C	T	rs146414455		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1056930C>T	uc002lqw.3	+	34	4842	c.4611C>T	c.(4609-4611)CTC>CTT	p.L1537L	ABCA7_uc002lqy.2_Silent_p.L8L|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1537	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACGTCCTCGTCTCCATCT	0.577		NA											25	58					0	0	0	0
BTBD2	55643	broad.mit.edu	37	19	1987221	1987221	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:1987221C>T	uc002lup.1	-	7	1213	c.1213G>A	c.(1213-1215)GGA>AGA	p.G405R	BTBD2_uc002luo.1_Missense_Mutation_p.G84R	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	405						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCAAATCCCACCACGAAG	0.597		NA											6	36					0	0	0	0
C19orf36	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:2096977G>T	uc002luw.1	+	1	110	c.33G>T	c.(31-33)ACG>ACT	p.T11T	C19orf36_uc002lux.1_Silent_p.T11T|C19orf36_uc010xgw.1_Silent_p.T11T|MOBKL2A_uc002luv.2_5'Flank	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	hypothetical protein LOC113177 isoform 3	11						extracellular region					0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCCTGACGGCGGCGCTGG	0.672		NA									OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	50					5.39e-06	5.49e-06	1	0
APBA3	9546	broad.mit.edu	37	19	3760025	3760025	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3760025G>A	uc002lyp.1	-	2	415	c.238C>T	c.(238-240)CCC>TCC	p.P80S	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	80					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGACAGGGGGCTCCACCT	0.627		NA											10	34					0	0	0	0
DAPK3	1613	broad.mit.edu	37	19	3964694	3964694	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3964694G>A	uc002lzc.1	-	2	451	c.358C>T	c.(358-360)CTC>TTC	p.L120F	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.L120F	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	120	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTGCTTGAGGAACTGGGTG	0.632		NA											13	93					0	0	0	0
EEF2	1938	broad.mit.edu	37	19	3977901	3977901	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:3977901G>A	uc002lze.2	-	12	2066	c.1983C>T	c.(1981-1983)ATC>ATT	p.I661I		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	661						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGTGAGGATGTTGGGGC	0.642		NA											16	63					0	0	0	0
PIAS4	51588	broad.mit.edu	37	19	4037787	4037787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4037787G>A	uc002lzg.2	+	11	1457	c.1447G>A	c.(1447-1449)GAA>AAA	p.E483K		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	483	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ggaggaggaggaagaggagga	0.552		NA											5	10					0	0	0	0
CREB3L3	84699	broad.mit.edu	37	19	4155015	4155015	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4155015C>T	uc002lzl.2	+	2	263	c.147C>T	c.(145-147)GTC>GTT	p.V49V	CREB3L3_uc002lzm.2_Silent_p.V40V|CREB3L3_uc010xib.1_Silent_p.V40V|CREB3L3_uc010xic.1_Silent_p.V40V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	49	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCACGTCAAGGACCAGG	0.652		NA											15	65					0	0	0	0
LRG1	116844	broad.mit.edu	37	19	4538433	4538433	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4538433G>A	uc002mau.2	-	2	574	c.563C>T	c.(562-564)ACC>ATC	p.T188I	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	188						extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGGAGGGTGAAGTTGGC	0.622		NA											46	149					0	0	0	0
DPP9	91039	broad.mit.edu	37	19	4697574	4697574	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:4697574C>T	uc002mba.2	-	11	1422	c.1164G>A	c.(1162-1164)CGG>CGA	p.R388R	DPP9_uc002mbb.2_Silent_p.R388R|DPP9_uc002mbc.2_Silent_p.R388R	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	359					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATTTGCCATCCCGGGTCCACC	0.632		NA											6	24					0	0	0	0
PTPRS	5802	broad.mit.edu	37	19	5220306	5220306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:5220306G>A	uc002mbv.2	-	21	3748	c.3514C>T	c.(3514-3516)CCG>TCG	p.P1172S	PTPRS_uc002mbu.1_Missense_Mutation_p.P741S|PTPRS_uc010xin.1_Missense_Mutation_p.P741S|PTPRS_uc002mbw.2_Missense_Mutation_p.P1150S|PTPRS_uc002mbx.2_Missense_Mutation_p.P745S|PTPRS_uc002mby.2_Missense_Mutation_p.P741S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1172	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)		CTACCCAGCGGGGTCAGGAAT	0.587		NA											5	21					0	0	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830111	7830111	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:7830111C>T	uc002mih.2	+	3	289	c.171C>T	c.(169-171)TCC>TCT	p.S57S	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.S57S|CLEC4M_uc010dvs.2_Silent_p.S56S|CLEC4M_uc010xjx.1_Silent_p.S29S|CLEC4M_uc002mhz.2_Silent_p.S57S|CLEC4M_uc002mic.2_Silent_p.S29S|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	57	Helical; Signal-anchor for type II membrane protein; (Probable).				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1						AACTCCTCTCCTTCATGCTCT	0.622		NA											22	53					0	0	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550506	8550507	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:8550506_8550507CC>TT	uc010dwe.2	+	14	1274_1275	c.1194_1195CC>TT	c.(1192-1197)GTCCCT>GTTTCT	p.P399S	HNRNPM_uc010xke.1_Missense_Mutation_p.P345S|HNRNPM_uc010dwd.2_Missense_Mutation_p.P360S|HNRNPM_uc002mka.2_Missense_Mutation_p.P264S|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	399					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						GAGGAAGCGTCCCTGGGATCGA	0.634		NA											23	95					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9068060	9068060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9068060C>T	uc002mkp.2	-	3	19590	c.19386G>A	c.(19384-19386)TGG>TGA	p.W6462*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6464	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTGATGTGTCCCAGGTAAGGG	0.483		NA											39	119					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9072091G>A	uc002mkp.2	-	3	15559	c.15355C>T	c.(15355-15357)CCT>TCT	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5121	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTATAGAAGGAAAAATTTCC	0.453		NA											28	74					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9090942	9090942	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9090942G>T	uc002mkp.2	-	1	1077	c.873C>A	c.(871-873)CTC>CTA	p.L291L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	291	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTTTATTATCGAGAACTGAAG	0.517		NA											51	72					8.79e-14	9.08e-14	1	0
ZNF559	84527	broad.mit.edu	37	19	9453078	9453078	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9453078G>A	uc002mlg.2	+	7	1598	c.951G>A	c.(949-951)AGG>AGA	p.R317R	ZNF559_uc002mlf.2_Silent_p.R86R|ZNF559_uc010dwl.1_Silent_p.R86R|ZNF559_uc010xkn.1_Silent_p.R309R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.R381R|ZNF559_uc010dwk.1_Silent_p.R86R|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	317	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCACATAAGGGTTCACACTG	0.368		NA											6	53					0	0	0	0
ZNF177	7730	broad.mit.edu	37	19	9489658	9489658	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:9489658A>G	uc002mli.2	+	9	717	c.54A>G	c.(52-54)GAA>GAG	p.E18E	ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Silent_p.E18E	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	18	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTCCAGGAAGTGGCAGTGG	0.463		NA											20	99					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10106788	10106788	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10106788G>A	uc002mmq.1	-	15	1573	c.1487C>T	c.(1486-1488)CCC>CTC	p.P496L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	496	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TGGATGCCCGGGGAGACCCTT	0.592		NA											30	108					0	0	0	0
RAVER1	125950	broad.mit.edu	37	19	10428229	10428229	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10428229C>T	uc002moa.2	-	13	2252	c.2172G>A	c.(2170-2172)TCG>TCA	p.S724S	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Missense_Mutation_p.R122H	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	Error:Variant_position_missing_in_Q8IY67_after_alignment						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGGGCTCGGGCGAGGGCAGCA	0.701		NA											14	28					0	0	0	0
PDE4A	5141	broad.mit.edu	37	19	10578238	10578238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:10578238G>A	uc002moj.2	+	15	2710	c.2602G>A	c.(2602-2604)GAG>AAG	p.E868K	PDE4A_uc002mok.2_Missense_Mutation_p.E842K|PDE4A_uc002mol.2_Missense_Mutation_p.E807K|PDE4A_uc002mom.2_Missense_Mutation_p.E629K|PDE4A_uc002mon.2_Missense_Mutation_p.E323K|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	868					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GACATTTGGGGAGGACACATC	0.692		NA											32	42					0	0	0	0
RGL3	57139	broad.mit.edu	37	19	11526779	11526779	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11526779C>T	uc002mrp.2	-	5	535	c.471G>A	c.(469-471)CAG>CAA	p.Q157Q	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.Q157Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	157	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTCGGAAATCCTGAGGGTGGT	0.627		NA											10	30					0	0	0	0
ZNF627	199692	broad.mit.edu	37	19	11728614	11728614	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:11728614T>C	uc002msk.2	+	4	1504	c.1296T>C	c.(1294-1296)ACT>ACC	p.T432T	ZNF627_uc010dyf.2_Silent_p.T322T	NM_145295	NP_660338	Q7L945	ZN627_HUMAN	zinc finger protein 627	432	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTCGATCCACTTACTTTCGAG	0.433		NA											20	31					0	0	0	0
ZNF799	90576	broad.mit.edu	37	19	12502624	12502624	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12502624A>C	uc010dyt.2	-	4	738	c.588T>G	c.(586-588)CCT>CCG	p.P196P	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q196*(1)		breast(3)|ovary(2)|skin(1)	6						TACATTTATAAGGTCCATCTC	0.408		NA											27	90					0	0	0	0
JUNB	3726	broad.mit.edu	37	19	12902926	12902926	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:12902926G>A	uc002mvc.2	+	1	617	c.341G>A	c.(340-342)GGG>GAG	p.G114E	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	114						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						TACCCCCGCGGGGGTGGCAGC	0.667		NA											4	11					0	0	0	0
TRMT1	55621	broad.mit.edu	37	19	13223747	13223747	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:13223747G>A	uc002mwj.2	-	5	970	c.720C>T	c.(718-720)ACC>ACT	p.T240T	TRMT1_uc002mwk.2_Silent_p.T240T|TRMT1_uc002mwl.3_Silent_p.T240T|TRMT1_uc010xmz.1_Silent_p.T26T	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	240							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CATCCAGGAAGGTGGCTGGGC	0.617		NA											5	30					0	0	0	0
DCAF15	90379	broad.mit.edu	37	19	14070848	14070849	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14070848_14070849CC>TT	uc002mxt.2	+	10	1499_1500	c.1493_1494CC>TT	c.(1492-1494)GCC>GTT	p.A498V	DCAF15_uc002mxu.2_RNA	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	498										central_nervous_system(1)	1						CTGCTCCTGGCCTTCCCGTCCC	0.653		NA									OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	28					0	0	0	0
PKN1	5585	broad.mit.edu	37	19	14554311	14554311	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:14554311C>T	uc002myp.2	+	3	520	c.352C>T	c.(352-354)CCC>TCC	p.P118S	PKN1_uc002myq.2_Missense_Mutation_p.P124S	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	118					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TGCGGGTGGCCCCACCTGCTC	0.662		NA											6	11					0	0	0	0
C19orf44	84167	broad.mit.edu	37	19	16611992	16611992	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16611992G>A	uc002neh.1	+	2	462	c.389G>A	c.(388-390)AGA>AAA	p.R130K	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R130K|C19orf44_uc002neg.2_Missense_Mutation_p.R130K|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	130											0						CTTCCAAAGAGAGCTGACAGA	0.527		NA											10	30					0	0	0	0
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:16612055C>T	uc002neh.1	+	2	525	c.452C>T	c.(451-453)TCC>TTC	p.S151F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S151F|C19orf44_uc002neg.2_Missense_Mutation_p.S151F|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	151											0						GACAAAACTTCCCAGAATCAA	0.483		NA											24	21					0	0	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104264	17104264	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17104264G>A	uc002nfb.2	-	12	1401	c.1369C>T	c.(1369-1371)CCC>TCC	p.P457S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	410						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						GGGATGGAGGGGATTTCAAAC	0.577		NA											8	19					0	0	0	0
PLVAP	83483	broad.mit.edu	37	19	17476205	17476205	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17476205C>T	uc002ngk.1	-	3	1119	c.1069G>A	c.(1069-1071)GAA>AAA	p.E357K		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	357	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						TTGTCTCGTTCCTTCCGCAGC	0.622		NA											38	38					0	0	0	0
MAP1S	55201	broad.mit.edu	37	19	17838435	17838435	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:17838435C>T	uc002nhe.1	+	5	2251	c.2242C>T	c.(2242-2244)CGC>TGC	p.R748C	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.R722C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	748	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						ATTTGAGCATCGCAAGGCGGT	0.701		NA											5	12					0	0	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182998	18182998	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18182998G>A	uc002nhw.1	-	9	1009	c.945C>T	c.(943-945)AAC>AAT	p.N315N	IL12RB1_uc010xqb.1_Silent_p.N315N|IL12RB1_uc002nhx.1_Silent_p.N355N|IL12RB1_uc002nhy.2_Silent_p.N315N	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	315	Extracellular (Potential).|Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1						TGACAGCCACGTTGTAGGCAG	0.617		NA											12	21					0	0	0	0
ISYNA1	51477	broad.mit.edu	37	19	18548556	18548556	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:18548556G>A	uc002njd.1	-	3	185	c.135C>T	c.(133-135)TCC>TCT	p.S45S	ISYNA1_uc002nja.1_5'Flank|ISYNA1_uc002njb.1_5'UTR|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_5'UTR|ISYNA1_uc002nje.1_Intron|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	45					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						TGAAGCGCGTGGACGTGGGGT	0.721		NA											3	4					0	0	0	0
NCAN	1463	broad.mit.edu	37	19	19337547	19337547	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:19337547C>T	uc002nlz.2	+	7	1424	c.1325C>T	c.(1324-1326)CCC>CTC	p.P442L	NCAN_uc010ecc.1_Missense_Mutation_p.P6L	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	442					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCCTCATGGCCCACTGGGGAA	0.622		NA											4	17					0	0	0	0
ZNF676	163223	broad.mit.edu	37	19	22363931	22363931	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22363931G>A	uc002nqs.1	-	3	906	c.588C>T	c.(586-588)CCC>CCT	p.P196P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.348		NA											33	43					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22940685	22940685	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22940685G>A	uc010xrh.1	-	5	1753	c.1753C>T	c.(1753-1755)CCC>TCC	p.P585S		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGGTTTCTCTTCA	0.368		NA											21	22					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22941815	22941815	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:22941815T>G	uc010xrh.1	-	5	623	c.623A>C	c.(622-624)CAC>CCC	p.H208P		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTAGTAAGGTGTGAGGATTG	0.358		NA											16	40					0	0	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698650	29698650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:29698650C>T	uc002nsd.2	-	2	741	c.630G>A	c.(628-630)TGG>TGA	p.W210*		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	210	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCAGGATAACCCATTCAGGTT	0.453		NA											45	146					0	0	0	0
C19orf2	8725	broad.mit.edu	37	19	30503326	30503326	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:30503326T>G	uc002nsr.2	+	10	1343	c.1313T>G	c.(1312-1314)TTG>TGG	p.L438W	C19orf2_uc002nsq.2_Missense_Mutation_p.L420W|C19orf2_uc002nss.2_Missense_Mutation_p.L398W|C19orf2_uc002nst.2_Missense_Mutation_p.L362W	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	438					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGAGTTTTGAGGAGTATC	0.453		NA											17	54					0	0	0	0
RHPN2	85415	broad.mit.edu	37	19	33493156	33493156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:33493156G>A	uc002nuf.2	-	9	1168	c.1102C>T	c.(1102-1104)CAG>TAG	p.Q368*	RHPN2_uc010xro.1_Nonsense_Mutation_p.Q217*|RHPN2_uc002nue.2_Nonsense_Mutation_p.Q98*	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	368	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GCCTTACCCTGGTGGTCGATG	0.632		NA											8	17					0	0	0	0
CHST8	64377	broad.mit.edu	37	19	34262944	34262944	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34262944C>T	uc002nus.3	+	5	756	c.251C>T	c.(250-252)CCG>CTG	p.P84L	CHST8_uc002nut.3_Missense_Mutation_p.P84L|CHST8_uc002nuu.2_Missense_Mutation_p.P84L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	84	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					AGTGGGGCCCCGAGGGGCCGC	0.672		NA											7	38					0	0	0	0
LSM14A	26065	broad.mit.edu	37	19	34710646	34710646	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:34710646G>A	uc002nvb.3	+	8	1196	c.1000G>A	c.(1000-1002)GGT>AGT	p.G334S	LSM14A_uc002nva.3_Missense_Mutation_p.G334S|LSM14A_uc010xru.1_Missense_Mutation_p.G293S|LSM14A_uc002nvc.3_Missense_Mutation_p.G140S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	334					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					GCCTGTAAATGGTGAAGATAA	0.358		NA											9	20					0	0	0	0
ZNF302	55900	broad.mit.edu	37	19	35175542	35175542	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35175542C>T	uc002nvr.1	+	6	995	c.732C>T	c.(730-732)ATC>ATT	p.I244I	ZNF302_uc002nvp.1_Silent_p.I200I|ZNF302_uc002nvq.1_Silent_p.I200I|ZNF302_uc002nvs.1_Silent_p.I200I	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAGAAAATCTATACATGCA	0.413		NA											36	149					0	0	0	0
ZNF792	126375	broad.mit.edu	37	19	35449808	35449808	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35449808T>C	uc002nxh.1	-	4	1338	c.951A>G	c.(949-951)AAA>AAG	p.K317K		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	317	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTGAAGAATTTTCCACATT	0.488		NA											5	18					0	0	0	0
FAM187B	148109	broad.mit.edu	37	19	35715962	35715962	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35715962G>A	uc002nyk.1	-	2	921	c.876C>T	c.(874-876)CTC>CTT	p.L292L		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	292	Extracellular (Potential).					integral to membrane				ovary(2)	2						ACTGGGCCACGAGCTCCTGCT	0.662		NA											8	33					0	0	0	0
FFAR2	2867	broad.mit.edu	37	19	35941446	35941446	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:35941446C>G	uc002nzg.2	+	2	910	c.830C>G	c.(829-831)TCT>TGT	p.S277C	FFAR2_uc010eea.2_Missense_Mutation_p.S277C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	277	Cytoplasmic (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)			TATTTCTCTTCTTCAGTGGTG	0.582		NA											32	107					0	0	0	0
C19orf55	148137	broad.mit.edu	37	19	36250286	36250286	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36250286T>G	uc002obq.1	+	2	96	c.23T>G	c.(22-24)TTC>TGC	p.F8C	HSPB6_uc002obn.1_5'Flank|C19orf55_uc002obp.2_Missense_Mutation_p.F8C|C19orf55_uc002obo.1_Missense_Mutation_p.F8C	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	8										ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCAGTTTTCTCCATTCAA	0.592		NA											3	19					0	0	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351440	36351440	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36351440C>T	uc002ocb.3	+	7	1011	c.799C>T	c.(799-801)CCG>TCG	p.P267S	KIRREL2_uc002obz.3_Missense_Mutation_p.P267S|KIRREL2_uc002oca.3_Missense_Mutation_p.P217S|KIRREL2_uc002occ.3_Missense_Mutation_p.P214S|KIRREL2_uc002ocd.3_Missense_Mutation_p.P264S	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	267	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGGGCTCTCCGGTGCTCGG	0.647		NA											19	45					0	0	0	0
KIRREL2	84063	broad.mit.edu	37	19	36353414	36353414	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36353414G>A	uc002ocb.3	+	12	1742	c.1530G>A	c.(1528-1530)CGG>CGA	p.R510R	KIRREL2_uc002obz.3_Silent_p.R510R|KIRREL2_uc002oca.3_Silent_p.R460R|KIRREL2_uc002occ.3_Silent_p.R457R|KIRREL2_uc002ocd.3_Intron	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	510	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACTGTGCGGATAGTGGCCG	0.627		NA											30	131					0	0	0	0
WDR62	284403	broad.mit.edu	37	19	36573968	36573968	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:36573968C>T	uc002odc.2	+	11	1466	c.1375C>T	c.(1375-1377)CTG>TTG	p.L459L	WDR62_uc002odd.2_Silent_p.L459L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	459					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTGCAGACCCTGCTGAAGGT	0.468		NA											4	15					0	0	0	0
ZNF420	147923	broad.mit.edu	37	19	37618342	37618342	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37618342G>A	uc002ofl.2	+	5	664	c.449G>A	c.(448-450)CGA>CAA	p.R150Q		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	150	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTCAGACGAGCCTCACAC	0.398		NA											12	45					0	0	0	0
ZNF527	84503	broad.mit.edu	37	19	37880348	37880348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:37880348G>A	uc010efk.1	+	5	1508	c.1397G>A	c.(1396-1398)GGA>GAA	p.G466E	ZNF527_uc002ogf.3_Missense_Mutation_p.G434E|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCATACCGGAGAAAAGCCC	0.408		NA											9	55					0	0	0	0
ZNF607	84775	broad.mit.edu	37	19	38189304	38189304	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38189304G>A	uc002ohc.1	-	5	2324	c.1728C>T	c.(1726-1728)CTC>CTT	p.L576L	ZNF607_uc002ohb.1_Silent_p.L575L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	576	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATGATATATGAGGCTTGTGG	0.403		NA											10	36					0	0	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38655373	38655373	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38655373C>G	uc002ohk.2	+	15	4544	c.4035C>G	c.(4033-4035)GGC>GGG	p.G1345G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1345					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTGTGGCGGGGGTCGCG	0.692		NA											5	15					0	0	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847129	38847129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38847129C>T	uc002oih.3	+	10	1228	c.1141C>T	c.(1141-1143)CAG>TAG	p.Q381*	CATSPERG_uc002oig.3_Nonsense_Mutation_p.Q381*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.Q21*|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	381	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TGCAGATGGCCAGGTGTCCTT	0.607		NA											11	63					0	0	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858334	38858334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38858334G>A	uc002oih.3	+	25	2935	c.2848G>A	c.(2848-2850)GTG>ATG	p.V950M	CATSPERG_uc002oig.3_Missense_Mutation_p.V910M|CATSPERG_uc002oif.3_Missense_Mutation_p.V590M|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	950	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TGTTCTGCTGGTGGTGGGTGG	0.607		NA											68	251					0	0	0	0
PSMD8	5714	broad.mit.edu	37	19	38871607	38871607	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38871607C>T	uc002oii.3	+	5	823	c.771C>T	c.(769-771)ACC>ACT	p.T257T	PSMD8_uc010efx.1_Silent_p.T90T	NM_002812	NP_002803	P48556	PSMD8_HUMAN	proteasome 26S non-ATPase subunit 8	257					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(1)	1	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGCTACACCTTCTTCATTG	0.468		NA											3	7					0	0	0	0
GGN	199720	broad.mit.edu	37	19	38877078	38877078	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:38877078C>T	uc002oij.1	-	3	959	c.824G>A	c.(823-825)GGC>GAC	p.G275D	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G192D	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	275	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCAAAGAGGCCGCCGCCTCC	0.647		NA											11	35					0	0	0	0
SIRT2	22933	broad.mit.edu	37	19	39369801	39369801	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39369801G>A	uc002ojt.1	-	16	1364	c.1164C>T	c.(1162-1164)CCC>CCT	p.P388P	RINL_uc002ojq.2_5'Flank|RINL_uc010xuo.1_5'Flank|SIRT2_uc010egh.1_3'UTR|SIRT2_uc010egi.1_Silent_p.P351P|SIRT2_uc002ojs.1_Silent_p.P368P|SIRT2_uc002oju.1_Silent_p.P351P|SIRT2_uc010egj.1_Silent_p.P351P|SIRT2_uc002ojv.1_Silent_p.P386P	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	388					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCTGTCACTGGGGTTTCTCCC	0.657		NA											17	32					0	0	0	0
PAK4	10298	broad.mit.edu	37	19	39664427	39664427	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39664427C>T	uc002okj.1	+	6	1336	c.875C>T	c.(874-876)CCA>CTA	p.P292L	PAK4_uc002okl.1_Missense_Mutation_p.P292L|PAK4_uc002okn.1_Missense_Mutation_p.P292L|PAK4_uc002okm.1_Missense_Mutation_p.P139L|PAK4_uc002oko.1_Missense_Mutation_p.P139L|PAK4_uc002okp.1_Missense_Mutation_p.P202L	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	292	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCGCTCACCACAGCGGGAG	0.711		NA											6	10					0	0	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691262	39691262	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39691262C>T	uc002okq.1	+	6	713	c.694C>T	c.(694-696)CAC>TAC	p.H232Y		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1	232	FBA.				protein catabolic process					ovary(1)	1						ACAGGTGTCCCACGTATTCCG	0.602		NA											34	102					0	0	0	0
LRFN1	57622	broad.mit.edu	37	19	39804666	39804666	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39804666G>A	uc002okw.2	-	1	1311	c.1311C>T	c.(1309-1311)TCC>TCT	p.S437S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	437	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGATGAGCACGGAGTTCGAGG	0.642		NA											11	28					0	0	0	0
PAF1	54623	broad.mit.edu	37	19	39880374	39880374	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39880374C>T	uc002old.2	-	4	373	c.198G>A	c.(196-198)TTG>TTA	p.L66L	PAF1_uc002ole.1_Silent_p.L56L|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	66					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTTTCTCCAAGGAAGTGG	0.552		NA											29	158					0	0	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915563	39915564	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:39915563_39915564CC>TT	uc010xuz.1	+	19	4115_4116	c.3790_3791CC>TT	c.(3790-3792)CCT>TTT	p.P1264F	PLEKHG2_uc010xuy.1_Intron|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P1042F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1264					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAGTCCCCCACCTTCCAGCCGT	0.604		NA											17	90					0	0	0	0
LGALS13	29124	broad.mit.edu	37	19	40097949	40097949	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40097949C>A	uc002omb.2	+	4	430	c.390C>A	c.(388-390)ATC>ATA	p.I130I		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13	130	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CGAGAGATATCTCCCTGACCT	0.468		NA											32	50					8.17e-17	8.47e-17	1	0
DYRK1B	9149	broad.mit.edu	37	19	40318203	40318203	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40318203A>C	uc002omj.2	-	7	1181	c.901T>G	c.(901-903)TGC>GGC	p.C301G	DYRK1B_uc002omi.2_Missense_Mutation_p.C301G|DYRK1B_uc002omk.2_Missense_Mutation_p.C301G	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	301	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACAAGGATGCAGCCCAGGGAC	0.612		NA											4	45					0	0	0	0
ZNF546	339327	broad.mit.edu	37	19	40520411	40520412	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40520411_40520412CC>TT	uc002oms.2	+	7	1490_1491	c.1234_1235CC>TT	c.(1234-1236)CCC>TTC	p.P412F	ZNF546_uc002omt.2_Missense_Mutation_p.P386F	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTGAAAAACCCTACGAATGT	0.381		NA											19	27					0	0	0	0
AKT2	208	broad.mit.edu	37	19	40762855	40762855	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40762855G>A	uc002onf.2	-	3	415	c.153C>T	c.(151-153)CCC>CCT	p.P51P	AKT2_uc010egs.2_Silent_p.P51P|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Silent_p.P51P	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	51	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			AGTTGTTTAAGGGGGGTAGAG	0.572		NA	A		ovarian|pancreatic 								11	49					0	0	0	0
PRX	57716	broad.mit.edu	37	19	40900834	40900834	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:40900834C>T	uc002onr.2	-	7	3694	c.3425G>A	c.(3424-3426)GGG>GAG	p.G1142E	PRX_uc002onq.2_Missense_Mutation_p.G1003E|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1142	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTCAGCCCCGCGTCATG	0.667		NA											10	39					0	0	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622463	41622463	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41622463G>A	uc002opu.1	+	3	331	c.275G>A	c.(274-276)GGA>GAA	p.G92E	CYP2F1_uc010xvw.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.G92E|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	92					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						GTGGACCAGGGAGAGGAGTTT	0.587		NA											16	50					0	0	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809897	41809897	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:41809897G>T	uc002oqb.3	+	13	2282	c.1993G>T	c.(1993-1995)GGT>TGT	p.G665C	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.G565C|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.G665C|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.G551C|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.G565C|HNRNPUL1_uc010eho.2_Missense_Mutation_p.G565C|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.G565C|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.G521C|HNRNPUL1_uc002oqf.3_Missense_Mutation_p.G189C	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	665	Gly-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						CAGCGGAGGTGGTGGCTATAG	0.517		NA											33	54					2.87e-16	2.97e-16	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42399446	42399446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42399446G>A	uc002orx.2	+	12	1011	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	ARHGEF1_uc002orw.1_Missense_Mutation_p.R301Q|ARHGEF1_uc002ory.2_Missense_Mutation_p.R268Q|ARHGEF1_uc002orz.2_Missense_Mutation_p.R139Q|ARHGEF1_uc002osa.2_Missense_Mutation_p.R316Q|ARHGEF1_uc002osb.2_Missense_Mutation_p.R283Q|ARHGEF1_uc002osc.2_5'UTR|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	301					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTACAGACCGGAAGGGAGGC	0.607		NA											16	69					0	0	0	0
POU2F2	5452	broad.mit.edu	37	19	42598031	42598031	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42598031C>T	uc002osp.2	-	12	1215	c.1148G>A	c.(1147-1149)GGC>GAC	p.G383D	POU2F2_uc002osn.2_Missense_Mutation_p.G367D|POU2F2_uc002oso.2_Missense_Mutation_p.G156D|POU2F2_uc002osq.2_Missense_Mutation_p.G367D|POU2F2_uc002osr.1_Missense_Mutation_p.G383D	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	383					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				GGTCCCCGCGCCCCCTTGGGG	0.617		NA											17	88					0	0	0	0
CIC	23152	broad.mit.edu	37	19	42794462	42794462	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:42794462C>T	uc002otf.1	+	10	1582	c.1542C>T	c.(1540-1542)CCC>CCT	p.P514P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	514	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				ACCCTGAGCCCCCAGGGCCCC	0.627		NA	T	DUX4	soft tissue sarcoma								20	65					0	0	0	0
CEACAM1	634	broad.mit.edu	37	19	43026182	43026182	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43026182G>A	uc002otv.2	-	3	710	c.597C>T	c.(595-597)ACC>ACT	p.T199T	uc010eif.1_Intron|uc002ott.1_RNA|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.T199T|CEACAM1_uc010eij.2_Silent_p.T199T|CEACAM1_uc002otx.2_Silent_p.T199T|CEACAM1_uc002oty.2_Silent_p.T199T|CEACAM1_uc002otz.2_Silent_p.T199T|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.T199T|CEACAM1_uc002oub.2_Silent_p.T199T|CEACAM1_uc002ouc.2_Silent_p.T199T	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	199	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTAGAGTGAGGGTCCTGTTGC	0.532		NA											35	203					0	0	0	0
PSG4	5672	broad.mit.edu	37	19	43709670	43709670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:43709670G>A	uc002ovy.2	-	1	121	c.19C>T	c.(19-21)CCT>TCT	p.P7S	PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.P7S|PSG4_uc002ovz.2_Missense_Mutation_p.P7S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	7					defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.587		NA											6	33					0	0	0	0
IRGC	56269	broad.mit.edu	37	19	44223319	44223319	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44223319G>A	uc002oxh.2	+	2	756	c.609G>A	c.(607-609)CGG>CGA	p.R203R		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	203						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				AGCGGCTGCGGGAGGCCGGCG	0.701		NA											8	52					0	0	0	0
ZNF221	7638	broad.mit.edu	37	19	44466927	44466927	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44466927C>T	uc002oxx.2	+	3	377	c.49C>T	c.(49-51)CCT>TCT	p.P17S	ZNF221_uc010ejb.1_Missense_Mutation_p.P17S|ZNF221_uc010xws.1_Missense_Mutation_p.P17S	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403		NA											22	53					0	0	0	0
ZNF233	353355	broad.mit.edu	37	19	44777200	44777200	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44777200G>A	uc002oyz.1	+	5	514	c.387G>A	c.(385-387)AAG>AAA	p.K129K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_5'UTR	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				TTCAAGGCAAGAGGTCCAAGT	0.378		NA											9	62					0	0	0	0
ZNF285	26974	broad.mit.edu	37	19	44891169	44891169	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891169G>A	uc002ozd.3	-	4	1325	c.1238C>T	c.(1237-1239)TCC>TTC	p.S413F	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S420F	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	413	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TTGAAGAACGGAGCTTGAACT	0.493		NA											11	56					0	0	0	0
ZNF285	26974	broad.mit.edu	37	19	44891417	44891417	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44891417G>A	uc002ozd.3	-	4	1077	c.990C>T	c.(988-990)TCC>TCT	p.S330S	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.S337S	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	330	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						GGTTGTGAAGGGAAGAGCTGC	0.478		NA											29	93					0	0	0	0
ZNF180	7733	broad.mit.edu	37	19	44981195	44981195	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:44981195G>A	uc002ozf.3	-	5	1785	c.1503C>T	c.(1501-1503)TCC>TCT	p.S501S	ZNF180_uc002ozh.3_Silent_p.S158S|ZNF180_uc002ozi.3_Silent_p.S474S|ZNF180_uc002ozg.3_Silent_p.S500S|ZNF180_uc010ejm.2_Silent_p.S476S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	501	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TTTGACTAAAGGATTTCCCAC	0.383		NA											23	69					0	0	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179627	45179627	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45179627G>C	uc002ozo.3	+	3	989	c.509G>C	c.(508-510)GGG>GCG	p.G170A	CEACAM19_uc002ozp.3_Missense_Mutation_p.G170A	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	170	Helical; (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTTGCTGCCGGGGCCCTTCTC	0.587		NA											27	49					0	0	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209024	45209024	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45209024G>A	uc010xxd.1	+	5	1032	c.826G>A	c.(826-828)GAC>AAC	p.D276N	CEACAM16_uc002ozq.2_Missense_Mutation_p.D335N	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	276										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GAACGGCCAAGACCACCTCAA	0.577		NA											19	43					0	0	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495560	45495560	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45495560G>A	uc002pai.2	+	13	1640	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	CLPTM1_uc010xxf.1_Missense_Mutation_p.R440H|CLPTM1_uc010xxg.1_Missense_Mutation_p.R528H	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	542	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCCCTGGCGCATGCTCACC	0.567		NA											4	107					0	0	0	0
CLPTM1	1209	broad.mit.edu	37	19	45496109	45496109	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45496109C>T	uc002pai.2	+	14	1979	c.1964C>T	c.(1963-1965)CCC>CTC	p.P655L	CLPTM1_uc010xxf.1_Missense_Mutation_p.P553L|CLPTM1_uc010xxg.1_Missense_Mutation_p.P641L	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	655	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCCAGCGAGCCCCAGGAAGCC	0.672		NA											8	33					0	0	0	0
ERCC2	2068	broad.mit.edu	37	19	45856009	45856009	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45856009G>A	uc002pbj.2	-	20	1944	c.1897C>T	c.(1897-1899)CTC>TTC	p.L633F	ERCC2_uc002pbh.2_Missense_Mutation_p.L196F|ERCC2_uc002pbi.2_Missense_Mutation_p.L326F|ERCC2_uc010ejz.2_Missense_Mutation_p.L555F|ERCC2_uc002pbk.2_Missense_Mutation_p.L609F	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	633	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCTTGAGAATGCGGCTC	0.612		NA	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				27	32					0	0	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885876	45885876	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:45885876G>A	uc002pbn.2	-	12	2434	c.2357C>T	c.(2356-2358)ACC>ATC	p.T786I	PPP1R13L_uc002pbm.2_Missense_Mutation_p.T365I|PPP1R13L_uc002pbo.2_Missense_Mutation_p.T786I	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	786	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCAGCACGGTGACCGACTC	0.687		NA											6	26					0	0	0	0
EML2	24139	broad.mit.edu	37	19	46137675	46137675	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46137675C>T	uc002pcn.2	-	4	269	c.234G>A	c.(232-234)GGG>GGA	p.G78G	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Silent_p.G225G|EML2_uc010xxm.1_Silent_p.G279G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G78G|EML2_uc010ekj.2_Silent_p.G78G	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	78					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACACTATCTCCCCGGTGGGCA	0.542		NA											9	23					0	0	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318152	46318152	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:46318152G>A	uc002pdm.2	-	1	426	c.283C>T	c.(283-285)CCC>TCC	p.P95S		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	95						intracellular				ovary(1)|central_nervous_system(1)	2						AACTCTGAGGGAAAGCCCGTG	0.602		NA											8	37					0	0	0	0
STRN4	29888	broad.mit.edu	37	19	47231181	47231181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47231181G>A	uc002pfl.2	-	8	1156	c.1123C>T	c.(1123-1125)CCT>TCT	p.P375S	STRN4_uc002pfm.2_Missense_Mutation_p.P375S|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	375						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGTGTGCCAGGAGGCGGGCCA	0.662		NA											12	39					0	0	0	0
GRLF1	2909	broad.mit.edu	37	19	47503696	47503696	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503696C>A	uc010ekv.2	+	6	4251	c.4251C>A	c.(4249-4251)GCC>GCA	p.A1417A		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1417	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CCCTCACAGCCACGCGCACCT	0.557		NA											49	176					6.15e-18	6.37e-18	1	0
GRLF1	2909	broad.mit.edu	37	19	47503753	47503753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47503753C>T	uc010ekv.2	+	6	4308	c.4308C>T	c.(4306-4308)TTC>TTT	p.F1436F		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1436	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CCTTCTTCTTCTACAATCGGC	0.597		NA											22	101					0	0	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570606	47570606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47570606G>A	uc002pga.3	-	15	2957	c.2919C>T	c.(2917-2919)TTC>TTT	p.F973F	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	973							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGGTGCGGGCGAAGCTGGGCT	0.677		NA											29	122					0	0	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597293	47597293	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:47597293G>A	uc002pga.3	-	4	464	c.426C>T	c.(424-426)GAC>GAT	p.D142D	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	142							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAAATCCGAGTCATCTGAGA	0.572		NA											47	53					0	0	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48255849	48255849	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:48255849C>T	uc002phm.2	+	6	774	c.750C>T	c.(748-750)TCC>TCT	p.S250S	GLTSCR2_uc002phk.2_Silent_p.S250S|GLTSCR2_uc002phl.2_Silent_p.S250S|GLTSCR2_uc010elj.2_Silent_p.S250S|GLTSCR2_uc010elk.1_RNA	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	250						nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAATCCATCCTTTGAAGACC	0.612		NA											12	34					0	0	0	0
BCAT2	587	broad.mit.edu	37	19	49310269	49310270	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49310269_49310270GG>AA	uc002pkr.2	-	2	123_124	c.86_87CC>TT	c.(85-87)TCC>TTT	p.S29F	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.S29F|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	29						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TGAAACTGGAGGAGGCATATCT	0.564		NA											6	48					0	0	0	0
TULP2	7288	broad.mit.edu	37	19	49387077	49387077	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49387077C>T	uc002pkz.2	-	11	1360	c.1209G>A	c.(1207-1209)CGG>CGA	p.R403R		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	403					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGTCATTTTCCGAGGCCCCA	0.512		NA											26	87					0	0	0	0
RUVBL2	10856	broad.mit.edu	37	19	49514284	49514284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49514284C>T	uc002plr.1	+	10	829	c.816C>T	c.(814-816)GTC>GTT	p.V272V	RUVBL2_uc002plq.1_Silent_p.V227V|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.V227V|RUVBL2_uc010yac.1_Silent_p.V227V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	272					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGTCAGAAGTCCGTGAGCAGA	0.622		NA											6	37					0	0	0	0
CGB1	114335	broad.mit.edu	37	19	49539417	49539417	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49539417G>A	uc002plx.2	-	2	376	c.153C>T	c.(151-153)ATC>ATT	p.I51I	CGB_uc010yad.1_Intron|SNAR-G1_uc010emp.1_5'Flank	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	83						extracellular region	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGCCGGCACAGATGGTGGTGT	0.687		NA											23	141					0	0	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812599	49812599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49812599C>T	uc002pmz.2	-	6	1180	c.946G>A	c.(946-948)GAA>AAA	p.E316K	SLC6A16_uc002pna.2_Missense_Mutation_p.E316K|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	316						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTTGCCCCTTCCAGGAGTAGA	0.507		NA											6	37					0	0	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814231	49814231	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:49814231C>A	uc002pmz.2	-	2	608	c.374G>T	c.(373-375)TGT>TTT	p.C125F	SLC6A16_uc002pna.2_Missense_Mutation_p.C125F|hsa-mir-4324|MI0015854_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	125	Cytoplasmic (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GCGCCAGAGACAAGATGGCTT	0.537		NA											23	67					2.22e-12	2.28e-12	1	0
PRR12	57479	broad.mit.edu	37	19	50099247	50099247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50099247C>T	uc002poo.3	+	4	1655	c.1655C>T	c.(1654-1656)TCC>TTC	p.S552F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGACCCAGCTCCCTGGGAGGC	0.711		NA											5	57					0	0	0	0
TBC1D17	79735	broad.mit.edu	37	19	50390808	50390808	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50390808C>T	uc002pqo.2	+	14	1672	c.1520C>T	c.(1519-1521)CCG>CTG	p.P507L	TBC1D17_uc010ybg.1_Missense_Mutation_p.P474L|TBC1D17_uc002pqp.2_Missense_Mutation_p.P158L|TBC1D17_uc002pqr.2_Missense_Mutation_p.P158L|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	507	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCCTTCCCGGATGTCCTT	0.632		NA											13	30					0	0	0	0
ATF5	22809	broad.mit.edu	37	19	50434207	50434207	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50434207C>T	uc010enq.1	+	3	667	c.100C>T	c.(100-102)CCT>TCT	p.P34S	IL4I1_uc002pqv.1_5'Flank|IL4I1_uc010eno.1_5'Flank|IL4I1_uc002pqw.1_5'Flank|IL4I1_uc002pqu.1_5'Flank|NUP62_uc002pqx.2_5'Flank|NUP62_uc002pqy.2_5'Flank|NUP62_uc002pqz.2_5'Flank|NUP62_uc002pra.2_5'Flank|NUP62_uc002prb.2_5'Flank|NUP62_uc002prc.2_5'Flank|ATF5_uc002prd.2_Missense_Mutation_p.P34S	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	34					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCCCGGCCCCTGCCCCCCT	0.687		NA											3	14					0	0	0	0
MYH14	79784	broad.mit.edu	37	19	50780155	50780155	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50780155G>A	uc002prr.1	+	27	3746	c.3699G>A	c.(3697-3699)CGG>CGA	p.R1233R	MYH14_uc010enu.1_Silent_p.R1274R|MYH14_uc002prq.1_Silent_p.R1241R	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1233	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCAGGCCCGGagggtgggtt	0.502		NA											5	28					0	0	0	0
SPIB	6689	broad.mit.edu	37	19	50926874	50926874	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50926874C>T	uc002psd.2	+	5	377	c.352C>T	c.(352-354)CCG>TCG	p.P118S	SPIB_uc002pse.2_Missense_Mutation_p.P118S|SPIB_uc010ycc.1_Missense_Mutation_p.P27S	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	118					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTGGTTCCCCCGGCATATGC	0.647		NA											6	23					0	0	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957535	50957535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:50957535C>T	uc002psf.2	+	18	1974	c.1923C>T	c.(1921-1923)CCC>CCT	p.P641P		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	641	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCCCAGACCCCCCGGAGGCTG	0.652		NA											4	61					0	0	0	0
LRRC4B	94030	broad.mit.edu	37	19	51051874	51051874	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51051874C>T	uc002pss.2	-	2	359	c.222G>A	c.(220-222)CGG>CGA	p.R74R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	74	Extracellular (Potential).|LRRNT.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGGTCTCTCCGTGTGCAGA	0.706		NA											3	12					0	0	0	0
SYT3	84258	broad.mit.edu	37	19	51133093	51133094	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133093_51133094GG>AA	uc002pst.2	-	3	1643_1644	c.1009_1010CC>TT	c.(1009-1011)CCC>TTC	p.P337F	SYT3_uc002psv.2_Missense_Mutation_p.P337F|SYT3_uc010ycd.1_Missense_Mutation_p.P337F	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	337	C2 1.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTTGACGTAGGGGTCTGAGAAG	0.465		NA											14	110					0	0	0	0
SYT3	84258	broad.mit.edu	37	19	51133335	51133335	+	Silent	SNP	G	G	A	rs144661464	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51133335G>A	uc002pst.2	-	3	1402	c.768C>T	c.(766-768)CCC>CCT	p.P256P	SYT3_uc002psv.2_Silent_p.P256P|SYT3_uc010ycd.1_Silent_p.P256P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	256	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCAGGCAGGGGTAAGGGCA	0.677		NA											10	53					0	0	0	0
KLK1	3816	broad.mit.edu	37	19	51322539	51322539	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51322539G>C	uc002ptk.1	-	5	739	c.700C>G	c.(700-702)CCT>GCT	p.P234A	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	234	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCCACAAGGGACGTAGCCC	0.582		NA											19	96					0	0	0	0
KLK3	354	broad.mit.edu	37	19	51361525	51361525	+	Silent	SNP	G	G	A	rs147547638	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51361525G>A	uc002pts.1	+	3	488	c.447G>A	c.(445-447)GGG>GGA	p.G149G	KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Silent_p.G106G|KLK3_uc010eof.1_RNA	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	149	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.483		NA											29	37					0	0	0	0
KLK13	26085	broad.mit.edu	37	19	51563854	51563854	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51563854C>T	uc002pvn.2	-	2	118	c.75G>A	c.(73-75)AAG>AAA	p.K25K	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Silent_p.K25K|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Silent_p.K25K	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	25					proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGTTGAGAACCTTGGAAGACT	0.577		NA											64	109					0	0	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918579	51918579	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51918579C>T	uc002pwo.2	-	7	1802	c.1186G>A	c.(1186-1188)GGA>AGA	p.G396R	SIGLEC10_uc002pwp.2_Missense_Mutation_p.G338R|SIGLEC10_uc002pwq.2_Missense_Mutation_p.G338R|SIGLEC10_uc002pwr.2_Missense_Mutation_p.G396R|SIGLEC10_uc010ycy.1_Missense_Mutation_p.G306R|SIGLEC10_uc010ycz.1_Missense_Mutation_p.G348R|SIGLEC10_uc010eow.2_Missense_Mutation_p.G208R|SIGLEC10_uc002pws.1_Missense_Mutation_p.G232R	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	396	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAACCTGTCCCCTCTGGGTC	0.657		NA											19	42					0	0	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919992	51919992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:51919992C>T	uc002pwo.2	-	3	1250	c.634G>A	c.(634-636)GAC>AAC	p.D212N	SIGLEC10_uc002pwp.2_Missense_Mutation_p.D154N|SIGLEC10_uc002pwq.2_Missense_Mutation_p.D154N|SIGLEC10_uc002pwr.2_Missense_Mutation_p.D212N|SIGLEC10_uc010ycy.1_Missense_Mutation_p.D212N|SIGLEC10_uc010ycz.1_Missense_Mutation_p.D164N|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Missense_Mutation_p.D138N	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	212	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGTGAGGTCGGTGTTGTGG	0.632		NA											26	32					0	0	0	0
FPR2	2358	broad.mit.edu	37	19	52272633	52272633	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52272633G>A	uc002pxr.2	+	2	767	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	FPR2_uc002pxs.3_Missense_Mutation_p.R241Q|FPR2_uc010epf.2_Missense_Mutation_p.R241Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	241	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						CGTCCCTTACGGGTCCTCACT	0.493		NA											11	64					0	0	0	0
FPR3	2359	broad.mit.edu	37	19	52327767	52327767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52327767C>T	uc002pxt.1	+	2	950	c.766C>T	c.(766-768)CCT>TCT	p.P256S		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	256	Helical; Name=6; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						CTGTTGGTTCCCTTATGAACT	0.423		NA											16	95					0	0	0	0
ZNF577	84765	broad.mit.edu	37	19	52376138	52376138	+	Missense_Mutation	SNP	G	G	A	rs139133866		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52376138G>A	uc010yde.1	-	7	1496	c.1105C>T	c.(1105-1107)CTC>TTC	p.L369F	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.L310F|ZNF577_uc002pxv.2_Missense_Mutation_p.L362F|ZNF577_uc002pxw.2_Missense_Mutation_p.L303F	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	369	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTTAATGAGGACTGACATG	0.448		NA											35	99					0	0	0	0
ZNF615	284370	broad.mit.edu	37	19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:52496734C>T	uc002pye.1	-	6	1887	c.1595G>A	c.(1594-1596)CGA>CAA	p.R532Q	ZNF615_uc002pyf.1_Missense_Mutation_p.R543Q|ZNF615_uc002pyg.1_Missense_Mutation_p.R424Q|ZNF615_uc002pyh.1_Missense_Mutation_p.R543Q|ZNF615_uc010epi.1_Missense_Mutation_p.R539Q|ZNF615_uc010ydg.1_Missense_Mutation_p.R537Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGTCC	0.443		NA											25	160					0	0	0	0
ZNF578	147660	broad.mit.edu	37	19	53015077	53015077	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53015077A>G	uc002pzp.3	+	6	1687	c.1443A>G	c.(1441-1443)AAA>AAG	p.K481K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTGGAGAGAAACCTTACAAGT	0.388		NA											30	90					0	0	0	0
ZNF808	388558	broad.mit.edu	37	19	53050850	53050850	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53050850G>T	uc010epq.1	+	4	326	c.149G>T	c.(148-150)AGG>ATG	p.R50M	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTTTGTACAGGGAAGTGATG	0.483		NA											27	240					1.77e-15	1.83e-15	1	0
ZNF320	162967	broad.mit.edu	37	19	53383907	53383907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53383907G>A	uc002qag.2	-	4	1663	c.1472C>T	c.(1471-1473)CCT>CTT	p.P491L	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.P437L|ZNF320_uc002qai.2_Missense_Mutation_p.P491L	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393		NA											9	87					0	0	0	0
ZNF665	79788	broad.mit.edu	37	19	53668984	53668984	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53668984C>T	uc010eqm.1	-	4	859	c.759G>A	c.(757-759)CAG>CAA	p.Q253Q		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	188	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		TATGAATTCTCTGATGACCTG	0.403		NA											26	172					0	0	0	0
ZNF765	91661	broad.mit.edu	37	19	53911563	53911563	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:53911563T>A	uc010ydx.1	+	6	1082	c.755T>A	c.(754-756)TTT>TAT	p.F252Y	ZNF765_uc002qbm.2_Missense_Mutation_p.F252Y|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	252	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		GGCAAGGTCTTTAATTCGAAG	0.403		NA											16	137					0	0	0	0
NLRP12	91662	broad.mit.edu	37	19	54327227	54327227	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54327227C>T	uc002qch.3	-	1	422	c.202G>A	c.(202-204)GAG>AAG	p.E68K	NLRP12_uc002qci.3_Missense_Mutation_p.E68K|NLRP12_uc002qcj.3_Missense_Mutation_p.E68K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E68K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	68	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCAGGCCTCCTCTGGCCCG	0.617		NA											26	156					0	0	0	0
PRKCG	5582	broad.mit.edu	37	19	54394978	54394978	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54394978C>T	uc002qcq.1	+	6	862	c.580C>T	c.(580-582)CCC>TCC	p.P194S	PRKCG_uc010eqz.1_Missense_Mutation_p.P194S|PRKCG_uc010yef.1_Missense_Mutation_p.P194S|PRKCG_uc010yeg.1_Missense_Mutation_p.P194S|PRKCG_uc010yeh.1_Missense_Mutation_p.P81S	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	194	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCTCTCTGATCCCTATGTGAA	0.532		NA											74	164					0	0	0	0
CACNG7	59284	broad.mit.edu	37	19	54444857	54444857	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54444857C>T	uc002qcr.1	+	4	573	c.558C>T	c.(556-558)TTC>TTT	p.F186F	CACNG7_uc010era.1_Silent_p.F186F	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	186	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCCTCCTTCCTACTCAAAG	0.468		NA											39	108					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54760510	54760510	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54760510G>A	uc002qex.2	-	3	308	c.197C>T	c.(196-198)CCA>CTA	p.P66L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P66L|LILRB5_uc002qey.2_Missense_Mutation_p.P66L|LILRB5_uc002qez.2_Missense_Mutation_p.P66L|LILRB5_uc002qfa.1_Missense_Mutation_p.P56L|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	66	Ig-like C2-type 1.|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)		CCGGGCCCATGGGAGTCCCTC	0.617		NA											95	118					0	0	0	0
LILRA3	11026	broad.mit.edu	37	19	54802615	54802615	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54802615C>T	uc002qfd.2	-	5	891	c.826G>A	c.(826-828)GGG>AGG	p.G276R	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.G212R	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	276	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGAGAGCCCAGCCTGGGGC	0.642		NA											15	100					0	0	0	0
LILRA4	23547	broad.mit.edu	37	19	54848307	54848307	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54848307G>A	uc002qfj.2	-	6	1117	c.1060C>T	c.(1060-1062)CTT>TTT	p.L354F	LILRA4_uc002qfi.2_Missense_Mutation_p.L288F	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	354	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TTGGTCAGAAGGAAAGTGAAC	0.587		NA											22	151					0	0	0	0
LENG9	94059	broad.mit.edu	37	19	54973853	54973853	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:54973853G>A	uc010yez.1	-	1	1042	c.923C>T	c.(922-924)GCC>GTC	p.A308V		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	308					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACTAAGGCGGGCCCTTTTGTC	0.667		NA											9	47					0	0	0	0
LILRA2	11027	broad.mit.edu	37	19	55086387	55086388	+	Missense_Mutation	DNP	CC	CC	TT	rs143437645		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55086387_55086388CC>TT	uc002qgg.3	+	4	631_632	c.542_543CC>TT	c.(541-543)TCC>TTT	p.S181F	LILRA2_uc010ern.2_Missense_Mutation_p.S181F|LILRA2_uc002qgf.2_Missense_Mutation_p.S181F|LILRA2_uc010yfe.1_Missense_Mutation_p.S181F|LILRA2_uc010yff.1_Missense_Mutation_p.S169F|LILRA2_uc010ero.2_Missense_Mutation_p.S169F|LILRA2_uc010yfg.1_Missense_Mutation_p.S181F	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	181	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GCCATCTTCTCCGTGGGCCCCG	0.569		NA											66	151					0	0	0	0
LILRA1	11024	broad.mit.edu	37	19	55106754	55106754	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55106754C>T	uc002qgh.1	+	5	730	c.548C>T	c.(547-549)TCT>TTT	p.S183F	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S183F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	183	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GCCATCTTCTCTGTGGGCCCC	0.567		NA											107	144					0	0	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340822	55340822	+	Missense_Mutation	SNP	C	C	T	rs1130462		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55340822C>T	uc002qhk.3	+	7	1070	c.1007C>T	c.(1006-1008)CCC>CTC	p.P336L	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P261L|KIR3DL1_uc010esf.2_Missense_Mutation_p.P241L|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P278L|KIR3DL1_uc002qhl.3_Intron	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	336	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTAACCCCAGACACCTG	0.333		NA											102	60					0	0	0	0
NLRP2	55655	broad.mit.edu	37	19	55493546	55493547	+	Nonsense_Mutation	DNP	CA	CA	AC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55493546_55493547CA>AC	uc002qij.2	+	6	566_567	c.480_481CA>AC	c.(478-483)TGCAGG>TGACGG	p.C160*	NLRP2_uc010yfp.1_Nonsense_Mutation_p.C137*|NLRP2_uc010esn.2_Nonsense_Mutation_p.C136*|NLRP2_uc010eso.2_Nonsense_Mutation_p.C157*|NLRP2_uc010esp.2_Nonsense_Mutation_p.C138*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	160					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACAATAGGTGCAGGTATATATT	0.45		NA											131	337					0	0	0	0
TNNI3	7137	broad.mit.edu	37	19	55667649	55667649	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:55667649G>A	uc002qjg.3	-	5	202	c.202C>T	c.(202-204)CGG>TGG	p.R68W	TNNI3_uc010yft.1_Missense_Mutation_p.R60W	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	68	Involved in binding TNC.				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCTCCGCGCCGCTCCTCCGCC	0.682		NA											4	44					0	0	0	0
FIZ1	84922	broad.mit.edu	37	19	56103957	56103957	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56103957G>A	uc002qli.3	-	3	1440	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F	FIZ1_uc002qlj.3_Silent_p.F450F	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	450	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGTGGCGGAAGAACTTGCCGC	0.662		NA											3	21					0	0	0	0
NLRP9	338321	broad.mit.edu	37	19	56244136	56244136	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56244136C>T	uc002qly.2	-	2	1089	c.1061G>A	c.(1060-1062)GGA>GAA	p.G354E		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	354	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGTCTTCTCCCCTCTCTAG	0.413		NA											51	83					0	0	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56297047G>A	uc010ygf.1	-	12	3757	c.3046C>T	c.(3046-3048)CCC>TCC	p.P1016S	NLRP11_uc002qlz.2_Missense_Mutation_p.P863S|NLRP11_uc002qmb.2_Missense_Mutation_p.P917S|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373		NA											24	99					0	0	0	0
NLRP11	204801	broad.mit.edu	37	19	56319270	56319270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56319270C>T	uc010ygf.1	-	6	2663	c.1952G>A	c.(1951-1953)AGG>AAG	p.R651K	NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Missense_Mutation_p.R552K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	651	LRR 2.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGACAGAATCCTTTCTGAAAT	0.438		NA											21	170					0	0	0	0
NLRP11	204801	broad.mit.edu	37	19	56320316	56320316	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56320316C>T	uc010ygf.1	-	5	2371	c.1660G>A	c.(1660-1662)GAA>AAA	p.E554K	NLRP11_uc002qlz.2_Missense_Mutation_p.E455K|NLRP11_uc002qmb.2_Missense_Mutation_p.E455K|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	554							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTCTTCTTCCCGATTCTCA	0.423		NA											32	182					0	0	0	0
NLRP4	147945	broad.mit.edu	37	19	56363573	56363573	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56363573C>T	uc002qmd.3	+	2	549	c.127C>T	c.(127-129)CCC>TCC	p.P43S		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	43	DAPIN.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGCAGATTCCCTGGACTGA	0.413		NA											52	86					0	0	0	0
NLRP4	147945	broad.mit.edu	37	19	56370046	56370046	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56370046C>T	uc002qmd.3	+	3	1709	c.1287C>T	c.(1285-1287)ATC>ATT	p.I429I	NLRP4_uc002qmf.2_Silent_p.I354I|NLRP4_uc010etf.2_Silent_p.I260I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	429	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACGCTGACATCCCTGCGCTGC	0.557		NA											55	131					0	0	0	0
NLRP13	126204	broad.mit.edu	37	19	56423283	56423283	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56423283G>A	uc010ygg.1	-	5	1925	c.1900C>T	c.(1900-1902)CAC>TAC	p.H634Y		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	634							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAATGTGAAATTGGAGA	0.408		NA											47	70					0	0	0	0
NLRP5	126206	broad.mit.edu	37	19	56515092	56515092	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56515092C>T	uc002qmj.2	+	2	73	c.73C>T	c.(73-75)CTT>TTT	p.L25F	NLRP5_uc002qmi.2_Missense_Mutation_p.L25F	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	25						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTTGTCACTCTTTCCACAGG	0.408		NA											38	103					0	0	0	0
GALP	85569	broad.mit.edu	37	19	56691959	56691959	+	Missense_Mutation	SNP	G	G	A	rs149853638		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56691959G>A	uc002qmo.1	+	3	174	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	31					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATCCAGGGACGAGGAGGCTGG	0.607		NA											19	44					0	0	0	0
ZNF582	147948	broad.mit.edu	37	19	56896527	56896528	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56896527_56896528CC>TT	uc002qmz.1	-	5	417_418	c.258_259GG>AA	c.(256-261)AAGGAA>AAAAAA	p.E87K	ZNF582_uc002qmy.2_Missense_Mutation_p.E118K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGAAATAATTCCTTGGTATCAT	0.356		NA											18	64					0	0	0	0
ZNF583	147949	broad.mit.edu	37	19	56934474	56934475	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56934474_56934475CC>TT	uc010ygl.1	+	5	612_613	c.447_448CC>TT	c.(445-450)ATCCTT>ATTTTT	p.L150F	ZNF583_uc002qnc.2_Missense_Mutation_p.L150F|ZNF583_uc010ygm.1_Missense_Mutation_p.L150F	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATAAAGAAATCCTTCCAGAAGT	0.366		NA											16	114					0	0	0	0
ZNF667	63934	broad.mit.edu	37	19	56953821	56953821	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:56953821G>A	uc002qnd.2	-	5	705	c.543C>T	c.(541-543)TTC>TTT	p.F181F	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.F181F|ZNF667_uc010etm.2_Silent_p.F124F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	181	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGATCTGTCTGAAAGCTTTTC	0.383		NA											25	121					0	0	0	0
ZNF835	90485	broad.mit.edu	37	19	57176536	57176536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57176536C>T	uc010ygo.1	-	2	97	c.97G>A	c.(97-99)GGC>AGC	p.G33S	ZNF835_uc010ygn.1_Missense_Mutation_p.G11S	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AACTCTGCGCCCTGGAGGGCG	0.547		NA											27	36					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57325361	57325361	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325361G>T	uc002qnu.2	-	7	4800	c.4449C>A	c.(4447-4449)GAC>GAA	p.D1483E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1454E|PEG3_uc002qnv.2_Missense_Mutation_p.D1483E|PEG3_uc002qnw.2_Missense_Mutation_p.D1359E|PEG3_uc002qnx.2_Missense_Mutation_p.D1357E|PEG3_uc010etr.2_Missense_Mutation_p.D1483E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1483	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCCACACCGTCAGGCTCGT	0.493		NA											63	154					2.34e-25	2.44e-25	1	0
PEG3	5178	broad.mit.edu	37	19	57325830	57325830	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57325830C>T	uc002qnu.2	-	7	4331	c.3980G>A	c.(3979-3981)GGA>GAA	p.G1327E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1298E|PEG3_uc002qnv.2_Missense_Mutation_p.G1327E|PEG3_uc002qnw.2_Missense_Mutation_p.G1203E|PEG3_uc002qnx.2_Missense_Mutation_p.G1201E|PEG3_uc010etr.2_Missense_Mutation_p.G1327E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1327					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGTATAGCTCCTTTGAGGGG	0.428		NA											18	69					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57326902	57326902	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57326902C>T	uc002qnu.2	-	7	3259	c.2908G>A	c.(2908-2910)GAA>AAA	p.E970K	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E941K|PEG3_uc002qnv.2_Missense_Mutation_p.E970K|PEG3_uc002qnw.2_Missense_Mutation_p.E846K|PEG3_uc002qnx.2_Missense_Mutation_p.E844K|PEG3_uc010etr.2_Missense_Mutation_p.E970K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	970	C2H2-type 5.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTGACATTCATAGAGCATC	0.458		NA											54	150					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327572G>A	uc002qnu.2	-	7	2589	c.2238C>T	c.(2236-2238)GAC>GAT	p.D746D	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.D717D|PEG3_uc002qnv.2_Silent_p.D746D|PEG3_uc002qnw.2_Silent_p.D622D|PEG3_uc002qnx.2_Silent_p.D620D|PEG3_uc010etr.2_Silent_p.D746D	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	746					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACGCCTTTTCGTCCTCATCAC	0.408		NA											74	162					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57327611	57327611	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57327611C>G	uc002qnu.2	-	7	2550	c.2199G>C	c.(2197-2199)AAG>AAC	p.K733N	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K704N|PEG3_uc002qnv.2_Missense_Mutation_p.K733N|PEG3_uc002qnw.2_Missense_Mutation_p.K609N|PEG3_uc002qnx.2_Missense_Mutation_p.K607N|PEG3_uc010etr.2_Missense_Mutation_p.K733N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	733					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGTATGACTCTTCTGAGATT	0.413		NA											63	93					0	0	0	0
USP29	57663	broad.mit.edu	37	19	57641804	57641804	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57641804C>T	uc002qny.2	+	4	2117	c.1761C>T	c.(1759-1761)TCC>TCT	p.S587S		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	587					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCAGAATCCAGTGATTCCC	0.488		NA											13	114					0	0	0	0
ZNF548	147694	broad.mit.edu	37	19	57910606	57910606	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57910606C>T	uc002qom.2	+	3	1201	c.951C>T	c.(949-951)TTC>TTT	p.F317F	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F320F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	317	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGGAAATTCTTTATGGACA	0.423		NA											15	86					0	0	0	0
ZNF17	7565	broad.mit.edu	37	19	57931851	57931851	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:57931851G>A	uc002qoo.1	+	3	1222	c.991G>A	c.(991-993)GGA>AGA	p.G331R	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.G333R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACGGCCTTATGGATGCAATGA	0.443		NA											31	74					0	0	0	0
ZNF530	348327	broad.mit.edu	37	19	58117311	58117311	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58117311G>A	uc002qpk.2	+	3	638	c.418G>A	c.(418-420)GAT>AAT	p.D140N	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGAAGCTTGATAATGGAGA	0.473		NA											20	96					0	0	0	0
ZNF551	90233	broad.mit.edu	37	19	58196721	58196721	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58196721T>G	uc002qpw.3	+	2	348	c.125T>G	c.(124-126)ATG>AGG	p.M42R	ZNF551_uc002qpv.3_Intron|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCGATGTGATGCTGGAGAAC	0.498		NA											38	257					0	0	0	0
ZNF418	147686	broad.mit.edu	37	19	58437850	58437850	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58437850C>T	uc002qqs.1	-	4	1991	c.1699G>A	c.(1699-1701)GAG>AAG	p.E567K	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E482K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCTGCACTCATAAGGTCTT	0.438		NA											24	71					0	0	0	0
C19orf18	147685	broad.mit.edu	37	19	58472858	58472858	+	Missense_Mutation	SNP	G	G	A	rs35437132	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58472858G>A	uc002qqv.2	-	5	537	c.433C>T	c.(433-435)CCG>TCG	p.P145S		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	145	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CCTAATAACGGTATCCTGAGG	0.458		NA											22	109					0	0	0	0
ZNF606	80095	broad.mit.edu	37	19	58499607	58499607	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58499607A>C	uc002qqw.2	-	6	986	c.368T>G	c.(367-369)GTG>GGG	p.V123G	ZNF606_uc010yhp.1_Missense_Mutation_p.V33G	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGCCTGCTCCACTGACCACGG	0.522		NA											10	65					0	0	0	0
ZNF135	7694	broad.mit.edu	37	19	58578350	58578350	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578350G>A	uc010yhq.1	+	5	630	c.534G>A	c.(532-534)GGG>GGA	p.G178G	ZNF135_uc002qre.2_Silent_p.G166G|ZNF135_uc002qrd.1_Silent_p.G124G|ZNF135_uc002qrf.2_Silent_p.G124G|ZNF135_uc002qrg.2_Silent_p.G136G|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	178					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGGGTTTGGGGAAAACATAA	0.542		NA											19	27					0	0	0	0
ZNF135	7694	broad.mit.edu	37	19	58578606	58578606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:58578606C>T	uc010yhq.1	+	5	886	c.790C>T	c.(790-792)CGG>TGG	p.R264W	ZNF135_uc002qre.2_Missense_Mutation_p.R252W|ZNF135_uc002qrd.1_Missense_Mutation_p.R210W|ZNF135_uc002qrf.2_Missense_Mutation_p.R210W|ZNF135_uc002qrg.2_Missense_Mutation_p.R222W|ZNF135_uc010yhr.1_Missense_Mutation_p.R73W	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAAGGCTTCCGGAACAGCTC	0.502		NA											21	145					0	0	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010014	59010014	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010014C>T	uc002qtc.2	-	10	2051	c.1941G>A	c.(1939-1941)CGG>CGA	p.R647R	SLC27A5_uc002qtb.2_RNA	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	647	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CACGCACCAACCGGGTCTTCA	0.592		NA											11	26					0	0	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr19:59010864G>A	uc002qtc.2	-	7	1772	c.1662C>T	c.(1660-1662)ACC>ACT	p.T554T	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	554	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657		NA											6	71					0	0	0	0
TPO	7173	broad.mit.edu	37	2	1457507	1457507	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1457507G>A	uc002qww.2	+	6	615	c.524G>A	c.(523-525)CGA>CAA	p.R175Q	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R175Q|TPO_uc002qwr.2_Missense_Mutation_p.R175Q|TPO_uc002qwx.2_Missense_Mutation_p.R175Q|TPO_uc010yio.1_Missense_Mutation_p.R175Q|TPO_uc010yip.1_Missense_Mutation_p.R175Q	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	175	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCTGGCACGATGGCTCCCT	0.602		NA											38	104					0	0	0	0
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:1460007G>A	uc002qww.2	+	7	863	c.772G>A	c.(772-774)GAC>AAC	p.D258N	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258N|TPO_uc002qwr.2_Missense_Mutation_p.D258N|TPO_uc002qwx.2_Missense_Mutation_p.D258N|TPO_uc010yio.1_Missense_Mutation_p.D258N|TPO_uc010yip.1_Missense_Mutation_p.D258N	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	258	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463		NA											4	44					0	0	0	0
TSSC1	7260	broad.mit.edu	37	2	3193185	3193185	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3193185G>A	uc002qxj.2	-	9	1277	c.1084C>T	c.(1084-1086)CTG>TTG	p.L362L	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	362	WD 5.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAGGCAAACAGCCACGGGTCA	0.622		NA											4	16					0	0	0	0
TTC15	51112	broad.mit.edu	37	2	3392406	3392406	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3392406C>T	uc002qxm.1	+	2	1218	c.1012C>T	c.(1012-1014)CTC>TTC	p.L338F	TTC15_uc002qxn.1_Missense_Mutation_p.L338F|TTC15_uc010ewm.1_Missense_Mutation_p.L338F|TTC15_uc002qxl.1_Missense_Mutation_p.L338F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	338							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CAAGGAGAACCTCACCATGCC	0.682		NA											3	12					0	0	0	0
COLEC11	78989	broad.mit.edu	37	2	3691452	3691452	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:3691452G>A	uc002qya.2	+	7	708	c.560G>A	c.(559-561)GGC>GAC	p.G187D	COLEC11_uc002qxz.2_Missense_Mutation_p.G184D|COLEC11_uc002qyb.2_Missense_Mutation_p.G163D|COLEC11_uc002qyc.2_Missense_Mutation_p.G163D|COLEC11_uc010ewo.2_Missense_Mutation_p.G139D|COLEC11_uc010ewp.2_Missense_Mutation_p.G161D|COLEC11_uc010ewq.2_Missense_Mutation_p.G137D|COLEC11_uc010ewr.2_Missense_Mutation_p.G137D|COLEC11_uc010ews.2_Missense_Mutation_p.G113D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	187	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCTGCCAATGGCCTGATGGCC	0.662		NA											4	32					0	0	0	0
SOX11	6664	broad.mit.edu	37	2	5833795	5833795	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:5833795C>T	uc002qyj.2	+	1	997	c.942C>T	c.(940-942)AGC>AGT	p.S314S		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	314					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTACTACAGCTTCAAGAACA	0.697		NA											8	13					0	0	0	0
ROCK2	9475	broad.mit.edu	37	2	11354483	11354483	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11354483C>T	uc002rbd.1	-	17	2492	c.2043G>A	c.(2041-2043)AAG>AAA	p.K681K		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	681	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CATGTTTTACCTTTTCCAAAT	0.328		NA											20	47					0	0	0	0
GREB1	9687	broad.mit.edu	37	2	11750976	11750976	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11750976C>T	uc002rbk.1	+	18	3129	c.2829C>T	c.(2827-2829)CCC>CCT	p.P943P	GREB1_uc002rbo.1_Silent_p.P577P|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	943						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCAGTGCCCCTGCGGCCACG	0.692		NA											11	19					0	0	0	0
NTSR2	23620	broad.mit.edu	37	2	11802337	11802337	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:11802337G>A	uc002rbq.3	-	2	728	c.654C>T	c.(652-654)CCC>CCT	p.P218P		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	218	Helical; Name=5; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTAGTGCCAAGGGGAGCACGA	0.647		NA											65	140					0	0	0	0
NBAS	51594	broad.mit.edu	37	2	15307441	15307441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:15307441C>T	uc002rcc.1	-	52	6873	c.6847G>A	c.(6847-6849)GAT>AAT	p.D2283N	NBAS_uc002rcb.1_Missense_Mutation_p.D123N|NBAS_uc010exl.1_Missense_Mutation_p.D1355N|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2283										ovary(2)|liver(1)|skin(1)	4						CAATTGGAATCATTCACCTTC	0.517		NA											8	36					0	0	0	0
WDR35	57539	broad.mit.edu	37	2	20131060	20131060	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20131060C>A	uc002rdi.2	-	25	3075	c.2967G>T	c.(2965-2967)CAG>CAT	p.Q989H	WDR35_uc002rdj.2_Missense_Mutation_p.Q978H|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.Q462H	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	989										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCGCTGGGCATTCT	0.338		NA											15	102					9.17e-09	9.4e-09	1	0
LAPTM4A	9741	broad.mit.edu	37	2	20234791	20234791	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20234791G>A	uc002rdm.2	-	5	973	c.465C>T	c.(463-465)GCC>GCT	p.A155A	LAPTM4A_uc002rdn.2_Silent_p.A113A	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	155					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGTCCAAGGCCAGGAGGT	0.428		NA											3	9					0	0	0	0
RHOB	388	broad.mit.edu	37	2	20647719	20647719	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:20647719G>A	uc002rdv.2	+	1	885	c.493G>A	c.(493-495)GAA>AAA	p.E165K		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	165					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CAAGACCAAGGAAGGCGTGCG	0.662		NA											20	101					0	0	0	0
APOB	338	broad.mit.edu	37	2	21265245	21265245	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:21265245C>T	uc002red.2	-	3	353	c.225G>A	c.(223-225)AGG>AGA	p.R75R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	75	Vitellogenin.|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCAGTTGATCCTGGTGGCAC	0.587		NA											19	92					0	0	0	0
C2orf44	80304	broad.mit.edu	37	2	24261404	24261404	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24261404G>A	uc002rep.2	-	2	1092	c.961C>T	c.(961-963)CTT>TTT	p.L321F	C2orf44_uc010eya.2_Missense_Mutation_p.L321F	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	321							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTCACAAGGACCAAATGT	0.388		NA											11	61					0	0	0	0
ITSN2	50618	broad.mit.edu	37	2	24433775	24433775	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:24433775G>A	uc002rfe.2	-	34	4389	c.4131C>T	c.(4129-4131)TCC>TCT	p.S1377S	ITSN2_uc002rff.2_Silent_p.S1350S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1377	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTTTAGGGAGGAATGGT	0.597		NA											20	56					0	0	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457168	25457169	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25457168_25457169CC>TT	uc002rgc.2	-	23	2975_2976	c.2718_2719GG>AA	c.(2716-2721)AAGGAG>AAAAAG	p.E907K	DNMT3A_uc002rgd.2_Missense_Mutation_p.E907K|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E718K	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	907					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAATACTCCTTCAGCGGAG	0.495		NA	Mis|F|N|S		AML								13	78					0	0	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469512	25469512	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:25469512G>A	uc002rgc.2	-	10	1513	c.1256C>T	c.(1255-1257)CCT>CTT	p.P419L	DNMT3A_uc002rgd.2_Missense_Mutation_p.P419L|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.P230L	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	419					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCTTAGGGCCAGAAGG	0.617		NA	Mis|F|N|S		AML								8	61					0	0	0	0
ASXL2	55252	broad.mit.edu	37	2	26029098	26029098	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26029098C>T	uc002rgs.2	-	3	473	c.252G>A	c.(250-252)AAG>AAA	p.K84K		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATATTTACCTTCAAAGTAT	0.393		NA											9	21					0	0	0	0
KIF3C	3797	broad.mit.edu	37	2	26203352	26203352	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:26203352G>C	uc002rgu.2	-	1	2092	c.1435C>G	c.(1435-1437)CGC>GGC	p.R479G	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.R479G	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	479	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGGCTGCGGTCATCCTGG	0.607		NA											27	71					0	0	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147884	27147884	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27147884C>T	uc002rhu.3	+	3	549	c.391C>T	c.(391-393)CAC>TAC	p.H131Y	DPYSL5_uc002rhv.3_Missense_Mutation_p.H131Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	131					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACGCCCTCCACGTGGGGAT	0.612		NA											8	32					0	0	0	0
EMILIN1	11117	broad.mit.edu	37	2	27307867	27307868	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27307867_27307868GG>AA	uc002rii.3	+	6	2994_2995	c.2566_2567GG>AA	c.(2566-2568)GGT>AAT	p.G856N	EMILIN1_uc002rik.3_Missense_Mutation_p.G91N|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	856	Collagen-like.|Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCTCAAGGTGAACAGGGT	0.431		NA											36	103					0	0	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479726	27479726	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27479726G>A	uc002rjk.2	-	6	999	c.813C>T	c.(811-813)TTC>TTT	p.F271F	SLC30A3_uc002rjj.2_Missense_Mutation_p.S117F|SLC30A3_uc010ylh.1_Silent_p.F266F	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	271	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGAAGAGGAAGGTGCTGA	0.572		NA											10	29					0	0	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481075	27481075	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27481075G>A	uc002rjk.2	-	3	564	c.378C>T	c.(376-378)TCC>TCT	p.S126S	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.S121S	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	126	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGACGGGTGGAGAGCCAGA	0.637		NA											23	53					0	0	0	0
SNX17	9784	broad.mit.edu	37	2	27599207	27599207	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:27599207C>T	uc002rkg.1	+	13	1432	c.1210C>T	c.(1210-1212)CTG>TTG	p.L404L	SNX17_uc010ylj.1_Silent_p.L384L|SNX17_uc010ylk.1_Silent_p.L190L|SNX17_uc010eza.1_Silent_p.L190L|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Silent_p.L190L|SNX17_uc010yll.1_Silent_p.L190L|SNX17_uc010ylm.1_Silent_p.L190L|SNX17_uc010yln.1_Silent_p.L392L|SNX17_uc010ylo.1_Silent_p.L322L|SNX17_uc010ylp.1_Silent_p.L379L|SNX17_uc010ylq.1_Silent_p.L190L	NM_014748	NP_055563	Q15036	SNX17_HUMAN	sorting nexin 17	404					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGGTACTCTGAGACGCTC	0.602		NA											42	99					0	0	0	0
FAM179A	165186	broad.mit.edu	37	2	29259474	29259474	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:29259474C>T	uc010ezl.2	+	18	2837	c.2486C>T	c.(2485-2487)TCC>TTC	p.S829F	FAM179A_uc010ymm.1_Missense_Mutation_p.S774F|FAM179A_uc002rmr.3_Missense_Mutation_p.S356F|FAM179A_uc002rms.1_Missense_Mutation_p.S127F	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	829							binding			ovary(3)|skin(1)	4						GCGCTGGAGTCCTTCGCCAAG	0.512		NA											13	57					0	0	0	0
CDKL4	344387	broad.mit.edu	37	2	39406422	39406422	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:39406422G>A	uc002rrm.2	-	8	833	c.833C>T	c.(832-834)TCC>TTC	p.S278F	CDKL4_uc010fal.1_Missense_Mutation_p.S278F	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	278	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				CAGGAGTTGGGAACAGGTTAA	0.433		NA											16	105					0	0	0	0
THADA	63892	broad.mit.edu	37	2	43779473	43779473	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43779473T>A	uc002rsw.3	-	18	3032	c.2680A>T	c.(2680-2682)AAA>TAA	p.K894*	THADA_uc010far.2_Nonsense_Mutation_p.K163*|THADA_uc002rsx.3_Nonsense_Mutation_p.K894*|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Nonsense_Mutation_p.K604*|THADA_uc010fat.1_Nonsense_Mutation_p.K42*|THADA_uc002rta.2_Nonsense_Mutation_p.K604*|THADA_uc002rtb.1_Nonsense_Mutation_p.K894*	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	894	Potential.						binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATCAAGCATTTGATAACTAGA	0.368		NA											10	29					0	0	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43992618	43992618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:43992618C>T	uc010yny.1	+	30	4446	c.4363C>T	c.(4363-4365)CAC>TAC	p.H1455Y		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1455						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGCAGCATTTCACCACCTCTC	0.483		NA											23	74					0	0	0	0
SIX3	6496	broad.mit.edu	37	2	45169459	45169460	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:45169459_45169460CC>TT	uc002run.1	+	1	423_424	c.216_217CC>TT	c.(214-219)GCCCCC>GCTTCC	p.P73S		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	73					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcTCCAGGGCCCCCCCGGAAGA	0.356		NA											9	9					0	0	0	0
KLRAQ1	129285	broad.mit.edu	37	2	48734518	48734518	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48734518T>G	uc002rwm.2	+	19	2264	c.2079T>G	c.(2077-2079)TAT>TAG	p.Y693*	KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.Y647*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.Y682*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.Y651*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	693	Potential.									ovary(1)	1						TGCATTTTTATGCCGAGGTGA	0.418		NA											15	84					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809495	48809495	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48809495C>T	uc010yol.1	+	1	1770	c.1723C>T	c.(1723-1725)CCA>TCA	p.P575S	STON1_uc002rwo.3_Missense_Mutation_p.P575S|STON1_uc010fbm.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P575S|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P575S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	575					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498		NA											22	141					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874001	48874001	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48874001T>C	uc010yol.1	+	5	2816	c.2769T>C	c.(2767-2769)GGT>GGC	p.G923G	STON1-GTF2A1L_uc002rwp.1_Silent_p.G970G|GTF2A1L_uc002rws.1_Silent_p.G266G|GTF2A1L_uc010yom.1_Silent_p.G232G|GTF2A1L_uc002rwt.2_Silent_p.G266G	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	923					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTCAGTGGTTCAGCTAGCA	0.453		NA											20	44					0	0	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906536	48906536	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:48906536G>A	uc010yol.1	+	8	3410	c.3363G>A	c.(3361-3363)GGG>GGA	p.G1121G	STON1-GTF2A1L_uc002rwp.1_Silent_p.G1168G|GTF2A1L_uc002rws.1_Silent_p.G464G|GTF2A1L_uc010yom.1_Silent_p.G430G|GTF2A1L_uc002rwt.2_Intron	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	1121					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTTGGAGGGAGAGACTATG	0.348		NA											18	74					0	0	0	0
FSHR	2492	broad.mit.edu	37	2	49381544	49381544	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:49381544G>A	uc002rww.2	-	1	87	c.13C>T	c.(13-15)CTG>TTG	p.L5L	FSHR_uc002rwx.2_Silent_p.L5L|FSHR_uc010fbn.2_Silent_p.L5L|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	5					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAAGAGACCAGGAGCAGGGCC	0.493		NA							Gonadal_Dysgenesis_46_XX				14	56					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	51254989	51254989	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:51254989C>T	uc010fbq.2	-	2	1900	c.423G>A	c.(421-423)AAG>AAA	p.K141K	NRXN1_uc002rxe.3_Silent_p.K141K|NRXN1_uc002rxd.1_Silent_p.K141K	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)			TGCGCTTGGACTTGACCTCCA	0.677		NA											4	34					0	0	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891677	54891677	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:54891677C>T	uc002rxu.2	+	33	6757	c.6508C>T	c.(6508-6510)CCG>TCG	p.P2170S	SPTBN1_uc010you.1_Missense_Mutation_p.P160S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2170					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CATCCCCTCCCCGACCTCTGA	0.592		NA											41	117					0	0	0	0
RTN4	57142	broad.mit.edu	37	2	55209756	55209756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:55209756C>T	uc002rye.2	-	5	3553	c.3255G>A	c.(3253-3255)GAG>GAA	p.E1085E	RTN4_uc002ryc.2_Silent_p.E92E|RTN4_uc002ryd.2_Silent_p.E879E|RTN4_uc002ryf.2_Silent_p.E285E|RTN4_uc002ryg.2_Silent_p.E266E	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	1085	Lumenal (Potential).|Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GAACCAACTCCTCAGATATAG	0.383		NA											31	62					0	0	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420170	56420171	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:56420170_56420171CC>TT	uc002rzn.2	+	2	1337_1338	c.835_836CC>TT	c.(835-837)CCG>TTG	p.P279L		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	279	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGACCTAGCCCGGAGCACCAC	0.644		NA											28	71					0	0	0	0
BCL11A	53335	broad.mit.edu	37	2	60689546	60689546	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:60689546G>A	uc002sae.1	-	4	729	c.501C>T	c.(499-501)CCC>CCT	p.P167P	BCL11A_uc002sab.2_Silent_p.P167P|BCL11A_uc002sac.2_Silent_p.P167P|BCL11A_uc010ypi.1_Silent_p.P15P|BCL11A_uc010ypj.1_Silent_p.P133P|BCL11A_uc002sad.1_Silent_p.P15P|BCL11A_uc002saf.1_Silent_p.P133P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	167	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTAGCTGCTGGGCTCATCTT	0.423		NA	T	IGH@	B-CLL								16	90					0	0	0	0
AFTPH	54812	broad.mit.edu	37	2	64796332	64796332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:64796332G>A	uc002sdc.2	+	3	2226	c.2194G>A	c.(2194-2196)GGA>AGA	p.G732R	AFTPH_uc002scz.2_Missense_Mutation_p.G732R|AFTPH_uc002sda.2_Missense_Mutation_p.G732R|AFTPH_uc002sdb.2_Missense_Mutation_p.G732R	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	732					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						GTCCTCCTTGGGAATAGACAC	0.423		NA											39	65					0	0	0	0
GKN2	200504	broad.mit.edu	37	2	69172545	69172545	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:69172545G>A	uc002sfa.2	-	6	619	c.510C>T	c.(508-510)CTC>CTT	p.L170L	GKN2_uc002sfb.3_3'UTR	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	170						extracellular region					0						AGATGCCCAGGAGCCCAGCCT	0.368		NA											39	176					0	0	0	0
GMCL1	64395	broad.mit.edu	37	2	70076805	70076805	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:70076805C>T	uc002sfu.2	+	8	1072	c.865C>T	c.(865-867)CCT>TCT	p.P289S		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	germ cell-less	289					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				ovary(3)	3						TCAACTTGTGCCTTCTTGGAA	0.299		NA											12	71					0	0	0	0
DYSF	8291	broad.mit.edu	37	2	71892332	71892332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:71892332C>T	uc002sie.2	+	46	5474	c.5098C>T	c.(5098-5100)CAG>TAG	p.Q1700*	DYSF_uc010feg.2_Nonsense_Mutation_p.Q1731*|DYSF_uc010feh.2_Nonsense_Mutation_p.Q1707*|DYSF_uc002sig.3_Nonsense_Mutation_p.Q1686*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.Q1721*|DYSF_uc010fef.2_Nonsense_Mutation_p.Q1738*|DYSF_uc010fei.2_Nonsense_Mutation_p.Q1717*|DYSF_uc010fek.2_Nonsense_Mutation_p.Q1718*|DYSF_uc010fej.2_Nonsense_Mutation_p.Q1708*|DYSF_uc010fel.2_Nonsense_Mutation_p.Q1687*|DYSF_uc010feo.2_Nonsense_Mutation_p.Q1732*|DYSF_uc010fem.2_Nonsense_Mutation_p.Q1722*|DYSF_uc010fen.2_Nonsense_Mutation_p.Q1739*|DYSF_uc002sif.2_Nonsense_Mutation_p.Q1701*|DYSF_uc010yqy.1_Nonsense_Mutation_p.Q581*|DYSF_uc010yqz.1_Nonsense_Mutation_p.Q461*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1700	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCGCCCCTCCCAGCTCCTCCA	0.532		NA											9	96					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73680577	73680577	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73680577C>T	uc002sje.1	+	10	7037	c.6926C>T	c.(6925-6927)TCC>TTC	p.S2309F	ALMS1_uc002sjf.1_Missense_Mutation_p.S2265F|ALMS1_uc002sjg.2_Missense_Mutation_p.S1695F|ALMS1_uc002sjh.1_Missense_Mutation_p.S1695F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2307					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAACCCTCTTCCACGGGTGTA	0.433		NA											24	47					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73718483	73718483	+	Missense_Mutation	SNP	C	C	T	rs45493191		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:73718483C>T	uc002sje.1	+	12	9511	c.9400C>T	c.(9400-9402)CCA>TCA	p.P3134S	ALMS1_uc002sjf.1_Missense_Mutation_p.P3090S|ALMS1_uc002sjg.2_Missense_Mutation_p.P2520S|ALMS1_uc002sjh.1_Missense_Mutation_p.P2520S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3132					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GCCTTCTCTTCCAGACAGTAA	0.393		NA											20	104					0	0	0	0
C2orf65	130951	broad.mit.edu	37	2	74834236	74834236	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:74834236C>T	uc002smy.2	-	4	658	c.541G>A	c.(541-543)GGA>AGA	p.G181R	C2orf65_uc010ysa.1_Missense_Mutation_p.G181R|C2orf65_uc002smz.2_Missense_Mutation_p.G181R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	181					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						TCTAGGATTCCCTTTGTGACC	0.433		NA											32	68					0	0	0	0
REG1B	5968	broad.mit.edu	37	2	79312675	79312675	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:79312675T>G	uc002sny.2	-	5	488	c.376A>C	c.(376-378)ACT>CCT	p.T126P	REG1B_uc010ffv.1_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	126	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						GGGGATCCAGTGTCCCAGGAC	0.557		NA											11	69					0	0	0	0
GGCX	2677	broad.mit.edu	37	2	85782639	85782639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:85782639A>T	uc002sps.2	-	6	799	c.693T>A	c.(691-693)TAT>TAA	p.Y231*	GGCX_uc010yss.1_Nonsense_Mutation_p.Y70*|GGCX_uc010yst.1_Nonsense_Mutation_p.Y174*	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	231	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCGGGACAAATATTCCATGG	0.473		NA											20	59					0	0	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072818	96072818	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96072818C>T	uc002sur.2	+	3	554	c.375C>T	c.(373-375)CCC>CCT	p.P125P	FAHD2A_uc002sus.2_Silent_p.P125P	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	125							hydrolase activity|metal ion binding			ovary(1)	1						AGAACGTGCCCGTGCCCAAGG	0.572		NA											11	76					0	0	0	0
ASTL	431705	broad.mit.edu	37	2	96789974	96789974	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:96789974G>A	uc010yui.1	-	9	911	c.911C>T	c.(910-912)CCG>CTG	p.P304L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	304					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TAGGGAGGCCGGAGCGGGGCT	0.632		NA											8	13					0	0	0	0
NCAPH	23397	broad.mit.edu	37	2	97024782	97024782	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97024782G>A	uc002svz.1	+	10	1293	c.1209_splice	c.e10-1	p.Q403_splice	NCAPH_uc010fhu.1_Splice_Site_p.Q379_splice|NCAPH_uc010fhv.1_Splice_Site_p.Q392_splice|NCAPH_uc010yum.1_Splice_Site_p.Q379_splice|NCAPH_uc010fhw.1_Splice_Site_p.Q392_splice|NCAPH_uc010yun.1_Splice_Site_p.Q267_splice|NCAPH_uc002swa.1_Splice_Site	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H						cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)				GTGTGTTACAGGGAAGAAATG	0.398		NA											11	29					0	0	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526482	97526482	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:97526482C>T	uc002sxh.3	-	15	2543	c.2383G>A	c.(2383-2385)GGA>AGA	p.G795R	ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.G295R|SEMA4C_uc002sxe.2_Missense_Mutation_p.G336R|SEMA4C_uc002sxg.3_Missense_Mutation_p.G848R	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	795	Cytoplasmic (Potential).				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TCCTCCCCTCCTAGTTGTAAG	0.642		NA											21	111					0	0	0	0
TMEM131	23505	broad.mit.edu	37	2	98422128	98422128	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:98422128G>A	uc002syh.3	-	20	2323	c.2094C>T	c.(2092-2094)TCC>TCT	p.S698S		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	698						integral to membrane				ovary(4)|central_nervous_system(2)	6						TCTGTGAGAAGGAATTCATAA	0.333		NA											36	142					0	0	0	0
MAP4K4	9448	broad.mit.edu	37	2	102483019	102483019	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:102483019C>T	uc002tbg.2	+	18	2155	c.2100C>T	c.(2098-2100)TCC>TCT	p.S700S	MAP4K4_uc002tbc.2_Silent_p.S778S|MAP4K4_uc002tbd.2_Silent_p.S670S|MAP4K4_uc002tbe.2_Silent_p.S616S|MAP4K4_uc002tbf.2_Silent_p.S670S|MAP4K4_uc010yvy.1_Silent_p.S693S|MAP4K4_uc002tbh.2_Silent_p.S615S|MAP4K4_uc002tbi.2_Silent_p.S500S|MAP4K4_uc010yvz.1_Silent_p.S673S|MAP4K4_uc002tbk.2_Silent_p.S155S|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	700					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGAGTGGCTCCGGGGAACGCT	0.542		NA											17	37					0	0	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124678	103124678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:103124678C>T	uc002tbz.3	+	5	1796	c.1339C>T	c.(1339-1341)CCT>TCT	p.P447S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	447	Extracellular (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GTCTCTTTTTCCTAGGAAGAA	0.353		NA											11	53					0	0	0	0
GPR45	11250	broad.mit.edu	37	2	105859166	105859166	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859166C>T	uc002tco.1	+	1	967	c.851C>T	c.(850-852)TCC>TTC	p.S284F		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CTGCCCCACTCCGTCTACAGC	0.587		NA											44	149					0	0	0	0
GPR45	11250	broad.mit.edu	37	2	105859281	105859281	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:105859281C>T	uc002tco.1	+	1	1082	c.966C>T	c.(964-966)ATC>ATT	p.I322I		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	322	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TCAACCCCATCGTCTACTGCT	0.547		NA											26	83					0	0	0	0
RGPD4	285190	broad.mit.edu	37	2	108455287	108455287	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108455287C>T	uc010ywk.1	+	4	354	c.272C>T	c.(271-273)CCA>CTA	p.P91L	RGPD4_uc002tdu.2_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	91	TPR 1.				intracellular transport		binding			skin(2)	2						GAATTAAACCCAACACAAAAA	0.254		NA											34	31					0	0	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614398	108614398	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108614398G>T	uc002tdv.2	+	5	829	c.553G>T	c.(553-555)GCC>TCC	p.A185S	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A185S|SLC5A7_uc010ywn.1_Missense_Mutation_p.A72S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	185	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	CTATTCTGTGGCCTACACTGA	0.453		NA											85	125					6.88e-45	7.17e-45	1	0
SLC5A7	60482	broad.mit.edu	37	2	108626920	108626920	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108626920G>A	uc002tdv.2	+	9	1622	c.1346G>A	c.(1345-1347)GGA>GAA	p.G449E	SLC5A7_uc010ywm.1_Missense_Mutation_p.G202E|SLC5A7_uc010fjj.2_Missense_Mutation_p.G449E|SLC5A7_uc010ywn.1_Missense_Mutation_p.G336E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	449	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	AGAATAACTGGAGGGGAGCCA	0.433		NA											22	59					0	0	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917299	108917299	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:108917299G>A	uc002tdy.2	+	4	736	c.283G>A	c.(283-285)GAA>AAA	p.E95K	SULT1C2_uc010ywp.1_Intron|SULT1C2_uc002tdx.2_Intron|SULT1C2_uc010ywq.1_Missense_Mutation_p.E109K	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	95					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						TAAAGGTGTGGAAAAAGCCAA	0.488		NA											42	69					0	0	0	0
ACOXL	55289	broad.mit.edu	37	2	111851062	111851062	+	Splice_Site	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:111851062A>C	uc002tgr.3	+	19	1857	c.1633_splice	c.e19-2	p.E545_splice	ACOXL_uc010fkc.2_Splice_Site_p.E515_splice|ACOXL_uc010yxk.1_Intron	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2						fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						TCCTTTCTGCAGGAGAGATGC	0.383		NA											11	21					0	0	0	0
MYO7B	4648	broad.mit.edu	37	2	128366402	128366402	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:128366402C>T	uc002top.2	+	22	2816	c.2763C>T	c.(2761-2763)TTC>TTT	p.F921F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	921						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)		TGTTCGGCTTCCTCCCTGCCA	0.627		NA											16	11					0	0	0	0
FAM123C	205147	broad.mit.edu	37	2	131521446	131521446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:131521446C>T	uc002trw.2	+	2	1991	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	FAM123C_uc010fmv.2_Nonsense_Mutation_p.R601*|FAM123C_uc010fms.1_Nonsense_Mutation_p.R601*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.R601*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.R601*	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	601										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGATGCCTCTCGAGAGGAAGA	0.597		NA											20	65					0	0	0	0
ACMSD	130013	broad.mit.edu	37	2	135659396	135659396	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:135659396C>A	uc002ttz.2	+	10	1044	c.977C>A	c.(976-978)GCA>GAA	p.A326E	ACMSD_uc002tua.2_Missense_Mutation_p.A268E|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	326					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		AATGCCCTGGCATTTTTGGGT	0.294		NA											17	51					6.33e-15	6.55e-15	1	0
R3HDM1	23518	broad.mit.edu	37	2	136396634	136396635	+	Silent	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136396634_136396635CC>TT	uc002tuo.2	+	14	1531_1532	c.1161_1162CC>TT	c.(1159-1164)GTCCTG>GTTTTG	p.387_388VL>VL	R3HDM1_uc010fni.2_Silent_p.385_386VL>VL|R3HDM1_uc002tup.2_Silent_p.331_332VL>VL|R3HDM1_uc010zbh.1_Silent_p.219_220VL>VL	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	387_388							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAATCTCAGTCCTGACAAGAGG	0.455		NA											34	103					0	0	0	0
DARS	1615	broad.mit.edu	37	2	136681972	136681972	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:136681972G>A	uc002tux.1	-	8	845	c.661C>T	c.(661-663)CCT>TCT	p.P221S	DARS_uc010fnj.1_Missense_Mutation_p.P121S	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	221					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATAATTTTAGGAGTTTGGATT	0.328		NA											3	31					0	0	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:137872796G>A	uc002tva.1	+	4	1209	c.1209G>A	c.(1207-1209)GGG>GGA	p.G403G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.G293G	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGCGGTGGGATCCAGACCC	0.602		NA											13	20					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141274580	141274580	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141274580A>G	uc002tvj.1	-	50	8999	c.8027T>C	c.(8026-8028)GTT>GCT	p.V2676A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2676	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTTTTGAACTGTGATAAA	0.299		NA								TSP Lung(27;0.18)			11	25					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141294269	141294269	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141294269G>A	uc002tvj.1	-	46	8495	c.7523C>T	c.(7522-7524)TCC>TTC	p.S2508F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2508	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTGCAGGAGGAATTTTTAGC	0.323		NA								TSP Lung(27;0.18)			15	15					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141751606	141751606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:141751606C>T	uc002tvj.1	-	16	3574	c.2602G>A	c.(2602-2604)GAT>AAT	p.D868N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	868	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCAGTCATCGTCGCCATCA	0.438		NA								TSP Lung(27;0.18)			15	89					0	0	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071213	150071213	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:150071213C>T	uc002twv.1	+	7	1014	c.613C>T	c.(613-615)CCA>TCA	p.P205S	LYPD6B_uc002tww.1_Missense_Mutation_p.P167S|LYPD6B_uc002twx.1_Missense_Mutation_p.P167S	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	181						anchored to membrane|plasma membrane					0						CTTTGTGCTTCCATTGCTGTG	0.507		NA											39	134					0	0	0	0
RIF1	55183	broad.mit.edu	37	2	152320883	152320883	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152320883C>T	uc002txm.2	+	30	4979	c.4849C>T	c.(4849-4851)CCG>TCG	p.P1617S	RIF1_uc002txl.2_Missense_Mutation_p.P1617S|RIF1_uc002txn.2_Missense_Mutation_p.P1617S|RIF1_uc002txo.2_Missense_Mutation_p.P1617S|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1617					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATAAAATCTCCGATTTGCGA	0.333		NA											6	24					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152534436	152534436	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:152534436G>A	uc010fnx.2	-	33	3712	c.3521C>T	c.(3520-3522)GCC>GTC	p.A1174V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1174	Nebulin 29.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTCCATGGCGTCAGGCAA	0.453		NA											13	52					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206292	160206292	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:160206292G>A	uc002uao.2	-	28	5142	c.4790C>T	c.(4789-4791)CCT>CTT	p.P1597L	BAZ2B_uc002uap.2_Missense_Mutation_p.P1561L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						AGCTGGGGTAGGTGAAGGTGA	0.458		NA											9	41					0	0	0	0
FIGN	55137	broad.mit.edu	37	2	164466247	164466247	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:164466247C>T	uc002uck.1	-	3	2406	c.2095G>A	c.(2095-2097)GAA>AAA	p.E699K		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	699						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ACCACTGCTTCCTGACACAAA	0.517		NA											19	34					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166866245	166866245	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:166866245C>T	uc010zcz.1	-	20	3971	c.3953G>A	c.(3952-3954)CGA>CAA	p.R1318Q	SCN1A_uc002udo.3_Missense_Mutation_p.R1198Q|SCN1A_uc010fpk.2_Missense_Mutation_p.R1170Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1329	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCCTTCAAATCGAGATAAGGC	0.363		NA											31	32					0	0	0	0
SCN7A	6332	broad.mit.edu	37	2	167298178	167298179	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:167298178_167298179CT>TC	uc002udu.1	-	14	2011_2012	c.1884_1885AG>GA	c.(1882-1887)AAAGAC>AAGAAC	p.D629N	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	629					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AGGACCAAGTCTTTCAGGGCCA	0.386		NA											43	46					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	168105505	168105505	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:168105505C>T	uc002udx.2	+	8	7621	c.7603C>T	c.(7603-7605)CCT>TCT	p.P2535S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2360S|XIRP2_uc010fpq.2_Missense_Mutation_p.P2313S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2360					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAATCCAAAACCTTATATGAG	0.338		NA											47	83					0	0	0	0
ABCB11	8647	broad.mit.edu	37	2	169783744	169783744	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169783744G>A	uc002ueo.1	-	26	3666	c.3540C>T	c.(3538-3540)ACC>ACT	p.T1180T	ABCB11_uc010zda.1_Silent_p.T598T|ABCB11_uc010zdb.1_Silent_p.T656T	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1180	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAATTTCTTTGGTGTTGTCTC	0.443		NA											58	104					0	0	0	0
ABCB11	8647	broad.mit.edu	37	2	169824937	169824937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:169824937C>T	uc002ueo.1	-	17	2201	c.2075G>A	c.(2074-2076)AGG>AAG	p.R692K	ABCB11_uc010zda.1_Missense_Mutation_p.R134K|ABCB11_uc010zdb.1_Missense_Mutation_p.R168K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	692	Cytoplasmic (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTGAGCTTACCTTAAACTATC	0.423		NA											6	16					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170038707	170038707	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:170038707G>A	uc002ues.2	-	51	10181	c.9968C>T	c.(9967-9969)CCC>CTC	p.P3323L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3323	LDL-receptor class B 31.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCTCTGGGATTATCAAA	0.537		NA											34	64					0	0	0	0
ATF2	1386	broad.mit.edu	37	2	175962174	175962174	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:175962174G>A	uc002ujl.2	-	11	1238	c.976C>T	c.(976-978)CCG>TCG	p.P326S	ATF2_uc010fqv.2_Missense_Mutation_p.P277S|ATF2_uc002ujv.2_Missense_Mutation_p.P73S|ATF2_uc002ujm.2_Missense_Mutation_p.P268S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.P326S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.P308S|ATF2_uc002ujs.2_Missense_Mutation_p.P268S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.P268S|ATF2_uc002ujx.1_RNA	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	326					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACACATACCGGAGTTTCTGTA	0.403		NA											17	84					0	0	0	0
HOXD3	3232	broad.mit.edu	37	2	177033899	177033899	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:177033899G>A	uc002ukt.1	+	2	233	c.57G>A	c.(55-57)AAG>AAA	p.K19K		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	19					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAATGCAGAAGGCTGCTTACT	0.537		NA											17	66					0	0	0	0
TTC30A	92104	broad.mit.edu	37	2	178482974	178482974	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:178482974A>C	uc002ulo.2	-	1	721	c.456T>G	c.(454-456)AAT>AAG	p.N152K		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	152					cell projection organization	cilium	binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATCGGTCTCATTGTCGCCTC	0.577		NA											31	115					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179439624	179439624	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179439624G>A	uc010zfg.1	-	275	63755	c.63531C>T	c.(63529-63531)ACC>ACT	p.T21177T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14872T|TTN_uc010zfi.1_Silent_p.T14805T|TTN_uc010zfj.1_Silent_p.T14680T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22104							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)			CCCAAGAGAAGGTTACAAAAT	0.453		NA											14	18					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179446509	179446509	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179446509G>A	uc010zfg.1	-	265	59006	c.58782C>T	c.(58780-58782)TTC>TTT	p.F19594F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.F13289F|TTN_uc010zfi.1_Silent_p.F13222F|TTN_uc010zfj.1_Silent_p.F13097F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20521							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)			ATACTTTAGGGAAAGCCGGTG	0.438		NA											4	18					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179474103	179474103	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179474103C>T	uc010zfg.1	-	222	44454	c.44230G>A	c.(44230-44232)GAA>AAA	p.E14744K	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8439K|TTN_uc010zfi.1_Missense_Mutation_p.E8372K|TTN_uc010zfj.1_Missense_Mutation_p.E8247K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15671							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)			ACAAATGGTTCTTCTTCTTGA	0.448		NA											4	52					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179486278	179486278	+	Silent	SNP	G	G	A	rs72677223		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179486278G>A	uc010zfg.1	-	194	37793	c.37569C>T	c.(37567-37569)AAC>AAT	p.N12523N	TTN_uc010zfh.1_Silent_p.N6218N|TTN_uc010zfi.1_Silent_p.N6151N|TTN_uc010zfj.1_Silent_p.N6026N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13450							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)			CAAGGTGAGCGTTCTGAATGA	0.443		NA											9	67					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179542597	179542597	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179542597C>T	uc010zfg.1	-	143	30534	c.30310G>A	c.(30310-30312)GAA>AAA	p.E10104K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6765K|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11031							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)			ACTTCCTCTTCCTGAGGTAGA	0.383		NA											22	82					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179590733	179590733	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179590733G>A	uc010zfg.1	-	67	16808	c.16584C>T	c.(16582-16584)ACC>ACT	p.T5528T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2189T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6455							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)			CATTTTTAAGGGTTTCTACTA	0.403		NA											9	55					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179594214	179594214	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179594214C>T	uc010zfg.1	-	61	15161	c.14937G>A	c.(14935-14937)ACG>ACA	p.T4979T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T1640T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5906							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)			GAGGTGTTCCCGTAACTTCAC	0.448		NA											16	101					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179605333	179605333	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179605333A>T	uc010zfh.1	-	46	12338	c.12114T>A	c.(12112-12114)CCT>CCA	p.P4038P	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.P3971P|TTN_uc010zfj.1_Silent_p.P3846P|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3961							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)			AATTCCCTTCAGGTTCAGCTA	0.383		NA											17	92					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179616729	179616729	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179616729C>T	uc002unb.2	-	46	10622	c.10398G>A	c.(10396-10398)AGG>AGA	p.R3466R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACGTGTATCCCTTTCTGAAT	0.358		NA											68	138					0	0	0	0
CCDC141	285025	broad.mit.edu	37	2	179732821	179732821	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179732821G>A	uc002unf.1	-	6	838	c.781C>T	c.(781-783)CGT>TGT	p.R261C		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	261							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)			TGGTCTACACGGGCTTGCTTT	0.498		NA											43	41					0	0	0	0
CCDC141	285025	broad.mit.edu	37	2	179742774	179742774	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:179742774C>T	uc002unf.1	-	2	148	c.91G>A	c.(91-93)GCT>ACT	p.A31T	CCDC141_uc002ung.2_Missense_Mutation_p.A606T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	31							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)			TGCTTCTCAGCCGAGTCAGAA	0.368		NA											21	79					0	0	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543494	182543494	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:182543494C>T	uc002uof.2	-	2	330	c.94G>A	c.(94-96)GAG>AAG	p.E32K	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	32					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGTGCTCCTCGTCCTGAGAA	0.512		NA											9	20					0	0	0	0
NCKAP1	10787	broad.mit.edu	37	2	183843628	183843628	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:183843628G>A	uc002upc.2	-	14	1759	c.1357C>T	c.(1357-1359)CCT>TCT	p.P453S	NCKAP1_uc002upb.2_Missense_Mutation_p.P459S	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	453					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATCTTCAGGGCAAACAGAA	0.199		NA											8	48					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802719	185802719	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:185802719G>A	uc002uph.2	+	4	3190	c.2596G>A	c.(2596-2598)GAA>AAA	p.E866K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TGCAAAAATCGAAAGGAACTC	0.353		NA											19	41					0	0	0	0
SLC40A1	30061	broad.mit.edu	37	2	190426734	190426734	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:190426734G>A	uc002uqp.3	-	8	1937	c.1586C>T	c.(1585-1587)TCC>TTC	p.S529F		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	529	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGCCACAAAGGAGACTGAAAT	0.433		NA											5	36					0	0	0	0
PGAP1	80055	broad.mit.edu	37	2	197729786	197729786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197729786C>A	uc002utw.2	-	20	1900	c.1786G>T	c.(1786-1788)GGA>TGA	p.G596*	PGAP1_uc002utx.2_Nonsense_Mutation_p.G422*|PGAP1_uc002uty.1_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	596	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						GGAAGAGCTCCACCATGAAAT	0.328		NA											20	29					1.02e-10	1.05e-10	1	0
ANKRD44	91526	broad.mit.edu	37	2	197990587	197990587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:197990587G>A	uc002uuc.2	-	5	603	c.436C>T	c.(436-438)CAT>TAT	p.H146Y	ANKRD44_uc002uua.1_Missense_Mutation_p.H121Y|ANKRD44_uc002uub.2_Missense_Mutation_p.H146Y|ANKRD44_uc010zgw.1_Missense_Mutation_p.H74Y	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	146	ANK 5.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAGCCGCATGGTGCAAGGCT	0.537		NA											15	88					0	0	0	0
SATB2	23314	broad.mit.edu	37	2	200173603	200173603	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:200173603G>A	uc002uuy.1	-	10	2437	c.1620C>T	c.(1618-1620)ACC>ACT	p.T540T	SATB2_uc010fsq.1_Silent_p.T422T|SATB2_uc002uuz.1_Silent_p.T540T|SATB2_uc002uva.1_Silent_p.T540T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	540	CUT 2.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCGACGGATGGTACAGAGGT	0.572		NA											16	63					0	0	0	0
WDR12	55759	broad.mit.edu	37	2	203776182	203776182	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:203776182T>A	uc002uzl.2	-	1	768	c.18A>T	c.(16-18)ACA>ACT	p.T6T	ALS2CR8_uc002uzn.2_5'Flank|ALS2CR8_uc002uzm.2_5'Flank|ALS2CR8_uc010zhy.1_5'Flank|ALS2CR8_uc010zhz.1_5'Flank|ALS2CR8_uc010ftu.1_5'Flank|ALS2CR8_uc002uzo.2_5'Flank|ALS2CR8_uc010zia.1_5'Flank|ALS2CR8_uc010zib.1_5'Flank|ALS2CR8_uc010zic.1_5'Flank|ALS2CR8_uc002uzp.2_5'Flank|WDR12_uc010ftt.2_Silent_p.T6T	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	6					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TGTAGAAGCGTGTTTGGAGCT	0.522		NA											16	56					0	0	0	0
NBEAL1	65065	broad.mit.edu	37	2	204055018	204055018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:204055018C>T	uc002uzt.3	+	45	7073	c.6740C>T	c.(6739-6741)GCT>GTT	p.A2247V	NBEAL1_uc002uzs.3_Missense_Mutation_p.A957V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2247	BEACH.						binding			ovary(1)|skin(1)	2						GTTTTAGGAGCTGTGGATCTG	0.343		NA											37	75					0	0	0	0
PARD3B	117583	broad.mit.edu	37	2	206480250	206480250	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:206480250C>T	uc002var.1	+	23	3538	c.3331C>T	c.(3331-3333)CCC>TCC	p.P1111S	PARD3B_uc002vao.1_Missense_Mutation_p.P1010S|PARD3B_uc002vap.1_Missense_Mutation_p.P1049S|PARD3B_uc002vaq.1_Missense_Mutation_p.P1042S|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1111					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGGAGCTTCCCTATTATCC	0.577		NA											12	74					0	0	0	0
FAM119A	151194	broad.mit.edu	37	2	208486555	208486555	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:208486555C>T	uc002vcf.2	-	3	394	c.234G>A	c.(232-234)CTG>CTA	p.L78L	FAM119A_uc002vce.2_Silent_p.L78L|FAM119A_uc010fuk.1_Silent_p.L78L|FAM119A_uc002vcg.3_Silent_p.L78L	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	hypothetical protein LOC151194	78	Helical; (Potential).					integral to membrane	methyltransferase activity				0				LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)		CTATGCCCACCAGCCCCGTGC	0.557		NA											9	67					0	0	0	0
MAP2	4133	broad.mit.edu	37	2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:210559487G>T	uc002vde.1	+	7	2841	c.2593G>T	c.(2593-2595)GAA>TAA	p.E865*	MAP2_uc002vdc.1_Nonsense_Mutation_p.E865*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E861*	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	865					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGTCAGCTCGAAGACCTGGG	0.468		NA											31	46					1.56e-20	1.62e-20	1	0
CPS1	1373	broad.mit.edu	37	2	211503916	211503916	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:211503916C>G	uc002vee.3	+	23	3004	c.2872C>G	c.(2872-2874)CTC>GTC	p.L958V	CPS1_uc010fur.2_Missense_Mutation_p.L964V|CPS1_uc010fus.2_Missense_Mutation_p.L507V	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	958					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)		AACAAACTATCTCTATGTTAC	0.313		NA											3	25					0	0	0	0
BARD1	580	broad.mit.edu	37	2	215610516	215610516	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:215610516T>C	uc002veu.2	-	8	1875	c.1740A>G	c.(1738-1740)GAA>GAG	p.E580E	BARD1_uc010zjm.1_Silent_p.E436E	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	580	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTCTGTTGTTCTGAAGACA	0.403		NA							Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				39	170					0	0	0	0
FN1	2335	broad.mit.edu	37	2	216269261	216269261	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:216269261C>T	uc002vfa.2	-	20	3370	c.3104G>A	c.(3103-3105)CGA>CAA	p.R1035Q	FN1_uc002vfb.2_Missense_Mutation_p.R1035Q|FN1_uc002vfc.2_Missense_Mutation_p.R1035Q|FN1_uc002vfd.2_Missense_Mutation_p.R1035Q|FN1_uc002vfe.2_Missense_Mutation_p.R1035Q|FN1_uc002vff.2_Missense_Mutation_p.R1035Q|FN1_uc002vfg.2_Missense_Mutation_p.R1035Q|FN1_uc002vfh.2_Missense_Mutation_p.R1035Q|FN1_uc002vfi.2_Missense_Mutation_p.R1035Q|FN1_uc002vfj.2_Missense_Mutation_p.R1035Q	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1035	|Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCCTCTTCGGGTAAGGCC	0.552		NA											18	50					0	0	0	0
IGFBP5	3488	broad.mit.edu	37	2	217542855	217542855	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:217542855C>T	uc002vgj.3	-	3	1441	c.667G>A	c.(667-669)GGA>AGA	p.G223R		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	223	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTAGAATCCTTTGCGGTCA	0.602		NA											10	63					0	0	0	0
TNS1	7145	broad.mit.edu	37	2	218712421	218712421	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:218712421G>A	uc002vgt.2	-	17	2842	c.2444C>T	c.(2443-2445)GCC>GTC	p.A815V	TNS1_uc002vgr.2_Missense_Mutation_p.A815V|TNS1_uc002vgs.2_Missense_Mutation_p.A815V|TNS1_uc010zjv.1_Missense_Mutation_p.A815V|TNS1_uc010fvj.1_Missense_Mutation_p.A883V|TNS1_uc010fvk.1_Missense_Mutation_p.A940V|TNS1_uc010fvi.1_Missense_Mutation_p.A502V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	815						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGAAGAGGCTGGGCTCTT	0.597		NA											29	36					0	0	0	0
PNKD	25953	broad.mit.edu	37	2	219208288	219208288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219208288G>A	uc002vhn.2	+	8	991	c.847G>A	c.(847-849)GAT>AAT	p.D283N	PNKD_uc002vhq.2_Missense_Mutation_p.D259N	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	283						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTAGGGGATGACACCCT	0.632		NA											6	13					0	0	0	0
VIL1	7429	broad.mit.edu	37	2	219292994	219292994	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219292994C>T	uc002via.2	+	6	566	c.501C>T	c.(499-501)CTC>CTT	p.L167L	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.L167L|VIL1_uc002vic.1_Silent_p.L167L	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	167	Gelsolin-like 2.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTTTCCTCCTGGACCTTG	0.552		NA											11	56					0	0	0	0
ZNF142	7701	broad.mit.edu	37	2	219508571	219508571	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219508571G>A	uc002vin.2	-	8	3104	c.2668C>T	c.(2668-2670)CCT>TCT	p.P890S	ZNF142_uc002vil.2_Missense_Mutation_p.P851S|ZNF142_uc010fvt.2_Missense_Mutation_p.P727S|ZNF142_uc002vim.2_Missense_Mutation_p.P727S	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	890					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)		AGTAGAACAGGGCACTTCTTC	0.607		NA											21	124					0	0	0	0
RNF25	64320	broad.mit.edu	37	2	219536676	219536676	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219536676A>G	uc002vit.2	-	1	106	c.18T>C	c.(16-18)TCT>TCC	p.S6S	STK36_uc002viu.2_5'Flank|STK36_uc002viv.2_5'Flank|RNF25_uc010fvw.2_5'UTR	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	6					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCAGCTGCAGACGCAGACG	0.622		NA											6	15					0	0	0	0
CCDC108	255101	broad.mit.edu	37	2	219892419	219892419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:219892419G>A	uc002vjl.1	-	13	2248	c.2164C>T	c.(2164-2166)CCC>TCC	p.P722S	CCDC108_uc010fwa.1_Missense_Mutation_p.P165S|CCDC108_uc010zkp.1_Missense_Mutation_p.P711S|CCDC108_uc010zkq.1_Missense_Mutation_p.P657S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	722						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCAGTTGGGGTGAGGCGGC	0.612		NA											14	83					0	0	0	0
FAM134A	79137	broad.mit.edu	37	2	220047121	220047121	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220047121C>T	uc002vjw.3	+	9	1538	c.1402C>T	c.(1402-1404)CCA>TCA	p.P468S	FAM134A_uc010fwc.2_Missense_Mutation_p.P261S|FAM134A_uc002vjx.2_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	468						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCATTCTCCCACCTGTTCC	0.627		NA											27	59					0	0	0	0
SPEG	10290	broad.mit.edu	37	2	220356873	220356873	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220356873G>A	uc010fwg.2	+	40	9502	c.9502G>A	c.(9502-9504)GAA>AAA	p.E3168K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	3168	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACCCCCAGGAAACGGAGGC	0.582		NA											13	32					0	0	0	0
OBSL1	23363	broad.mit.edu	37	2	220422771	220422771	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:220422771C>T	uc010fwk.2	-	11	3621	c.3564G>A	c.(3562-3564)GGG>GGA	p.G1188G	OBSL1_uc002vmh.1_Silent_p.G179G|OBSL1_uc010zli.1_Silent_p.G87G|OBSL1_uc010fwl.1_Silent_p.G663G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1188	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCACTGGCTCCCCAGGGGCCA	0.642		NA											5	26					0	0	0	0
EPHA4	2043	broad.mit.edu	37	2	222301166	222301166	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222301166T>C	uc002vmq.2	-	13	2341	c.2299A>G	c.(2299-2301)ATG>GTG	p.M767V	EPHA4_uc002vmr.2_Missense_Mutation_p.M767V|EPHA4_uc010zlm.1_Missense_Mutation_p.M708V|EPHA4_uc010zln.1_Missense_Mutation_p.M767V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	767	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACTCGGGACATGCCAAAATCA	0.488		NA											20	23					0	0	0	0
EPHA4	2043	broad.mit.edu	37	2	222308288	222308288	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:222308288G>A	uc002vmq.2	-	10	1855	c.1813C>T	c.(1813-1815)CCC>TCC	p.P605S	EPHA4_uc002vmr.2_Missense_Mutation_p.P605S|EPHA4_uc010zlm.1_Missense_Mutation_p.P546S|EPHA4_uc010zln.1_Missense_Mutation_p.P605S	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	605	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCTTGGTTGGGATCTTCGTAC	0.398		NA											26	43					0	0	0	0
WDFY1	57590	broad.mit.edu	37	2	224760271	224760271	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:224760271C>A	uc002vnq.2	-	7	726	c.675G>T	c.(673-675)ATG>ATT	p.M225I		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	225	WD 5.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGATGTCCCACATGATGATGC	0.552		NA											11	61					6.43e-13	6.63e-13	1	0
COL4A4	1286	broad.mit.edu	37	2	227985823	227985823	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:227985823G>A	uc010zlt.1	-	5	888	c.234C>T	c.(232-234)CCC>CCT	p.P78P		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	78	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGCTCCCAGGGGTCCAATTG	0.547		NA											6	32					0	0	0	0
COL4A3	1285	broad.mit.edu	37	2	228172461	228172461	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228172461G>A	uc002vom.1	+	48	4450	c.4288G>A	c.(4288-4290)GGA>AGA	p.G1430R	COL4A3_uc002von.1_Missense_Mutation_p.G1430R|COL4A3_uc002voo.1_Missense_Mutation_p.G1430R|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1430	Triple-helical region.|Epitope recognized by Goodpasture antibodies.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGTTTGAAAGGAAAACGTGG	0.433		NA											16	66					0	0	0	0
AGFG1	3267	broad.mit.edu	37	2	228398379	228398379	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228398379C>T	uc002vpc.2	+	7	1179	c.929C>T	c.(928-930)GCT>GTT	p.A310V	AGFG1_uc002vpd.2_Missense_Mutation_p.A334V|AGFG1_uc002vpe.2_Missense_Mutation_p.A310V|AGFG1_uc002vpf.2_Missense_Mutation_p.A270V	NM_004504	NP_004495	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 2	310					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4						ACAGCATCAGCTGTTAGTAAA	0.398		NA											31	51					0	0	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883697	228883697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:228883697G>A	uc002vpq.2	-	7	1920	c.1873C>T	c.(1873-1875)CTG>TTG	p.L625L	SPHKAP_uc002vpp.2_Silent_p.L625L|SPHKAP_uc010zlx.1_Silent_p.L625L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	625						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTAAAACCAGAGCAGCCTCC	0.502		NA											7	28					0	0	0	0
NEU2	4759	broad.mit.edu	37	2	233899488	233899488	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:233899488C>T	uc010zmn.1	+	2	864	c.864C>T	c.(862-864)TCC>TCT	p.S288S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	288							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGCCTGGCTCCCCAGCCCAGT	0.697		NA											9	46					0	0	0	0
ARL4C	10123	broad.mit.edu	37	2	235404769	235404769	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:235404769G>A	uc002vvn.2	-	1	925	c.462C>T	c.(460-462)ACC>ACT	p.T154T	ARL4C_uc002vvm.3_Silent_p.T154T	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	154					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GGACGTGATAGGTGGTGGCCG	0.622		NA											6	32					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	236708049	236708049	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:236708049C>T	uc002vvs.2	+	8	1435	c.840C>T	c.(838-840)TCC>TCT	p.S280S	AGAP1_uc002vvt.2_Silent_p.S280S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	280					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						ACTATTCCTCCTCCGTTCCAT	0.512		NA											17	61					0	0	0	0
IQCA1	79781	broad.mit.edu	37	2	237272434	237272434	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:237272434C>T	uc002vvz.1	-	15	2040	c.1858G>A	c.(1858-1860)GCA>ACA	p.A620T	IQCA1_uc002vwb.2_Missense_Mutation_p.A628T|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.A579T	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	620							ATP binding			ovary(1)	1						TTGAAGACTGCATGCAGCATC	0.448		NA											17	112					0	0	0	0
PER2	8864	broad.mit.edu	37	2	239170870	239170871	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:239170870_239170871CC>TT	uc002vyc.2	-	11	1505_1506	c.1268_1269GG>AA	c.(1267-1269)AGG>AAA	p.R423K	PER2_uc010znv.1_Missense_Mutation_p.R423K|PER2_uc010znw.1_Missense_Mutation_p.R423K|PER2_uc010fyx.1_Missense_Mutation_p.E388K	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	423	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGAGATTTTCCTGCTCCATGG	0.594		NA											13	43					0	0	0	0
HDLBP	3069	broad.mit.edu	37	2	242178142	242178142	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242178142G>A	uc002waz.2	-	20	2899	c.2671C>T	c.(2671-2673)CCC>TCC	p.P891S	HDLBP_uc002wba.2_Missense_Mutation_p.P891S|HDLBP_uc002wbb.2_Missense_Mutation_p.P843S	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	891	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAACCTTTGGGGCCCATGACA	0.473		NA											65	317					0	0	0	0
THAP4	51078	broad.mit.edu	37	2	242576370	242576370	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:242576370G>C	uc002wbt.2	-	1	286	c.63C>G	c.(61-63)GCC>GCG	p.A21A	ATG4B_uc002wbu.2_5'Flank|ATG4B_uc002wbv.2_5'Flank|ATG4B_uc002wbw.2_5'Flank|ATG4B_uc010zox.1_5'Flank|ATG4B_uc010zoy.1_5'Flank|ATG4B_uc010fzp.2_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	21	THAP-type.						DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGAAGGAGACGGCGCGCTTCT	0.413		NA											6	8					0	0	0	0
DEFB127	140850	broad.mit.edu	37	20	139628	139628	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:139628T>G	uc002wcy.1	+	2	263	c.263T>G	c.(262-264)ATA>AGA	p.I88R		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	defensin, beta 127 preproprotein	88					defense response to bacterium|innate immune response	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GTTACAATAATAGAAAATTTC	0.363		NA											21	31					0	0	0	0
PDYN	5173	broad.mit.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:1961100G>A	uc010gaj.2	-	3	876	c.634C>T	c.(634-636)CGG>TGG	p.R212W	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R212W|PDYN_uc010zpt.1_Missense_Mutation_p.R57W	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CGAATGCGCCGCAAGAAGCCC	0.587		NA											26	149					0	0	0	0
CPXM1	56265	broad.mit.edu	37	20	2779447	2779448	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:2779447_2779448GG>AA	uc002wgu.2	-	2	328_329	c.264_265CC>TT	c.(262-267)ACCCCA>ACTTCA	p.P89S	CPXM1_uc010gas.2_Missense_Mutation_p.P89S	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	89					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						GTCACCAGTGGGGTGGGGCGAG	0.574		NA											48	117					0	0	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214206	3214206	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3214206G>A	uc002wig.2	-	6	779	c.731C>T	c.(730-732)TCC>TTC	p.S244F	SLC4A11_uc010zqe.1_Missense_Mutation_p.S271F|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.S228F	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	244	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						AACCTCACAGGAATTCTCCCC	0.642		NA											13	79					0	0	0	0
ADAM33	80332	broad.mit.edu	37	20	3655679	3655679	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3655679G>A	uc002wit.2	-	4	415	c.328C>T	c.(328-330)CAC>TAC	p.H110Y	ADAM33_uc002wir.1_Missense_Mutation_p.H110Y|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.H110Y|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.H109Y|ADAM33_uc010zqg.1_Missense_Mutation_p.H109Y|ADAM33_uc010zqh.1_Missense_Mutation_p.H110Y	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	110	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						CTCACCGTGTGGTTGGGGGCC	0.617		NA											17	101					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672822	3672822	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3672822G>A	uc002wja.2	-	16	4058	c.4058C>T	c.(4057-4059)TCC>TTC	p.S1353F	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.S1353F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1353	Ig-like C2-type 14.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GTCCCGGAAGGAGGACAGGAC	0.612		NA											17	51					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677377	3677377	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3677377G>A	uc002wja.2	-	10	2539	c.2539C>T	c.(2539-2541)CAT>TAT	p.H847Y	SIGLEC1_uc002wiz.3_Missense_Mutation_p.H847Y	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	847	Ig-like C2-type 8.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AACCGACCATGGGATGGGACC	0.622		NA											27	79					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679949	3679949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3679949G>A	uc002wja.2	-	7	1686	c.1686C>T	c.(1684-1686)CTC>CTT	p.L562L	SIGLEC1_uc002wiz.3_Silent_p.L562L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	562	Ig-like C2-type 5.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AGGCCGCGGGGAGCAGGAGGC	0.672		NA											3	23					0	0	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684712	3684712	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:3684712G>A	uc002wja.2	-	4	733	c.733C>T	c.(733-735)CTC>TTC	p.L245F	SIGLEC1_uc002wiz.3_Missense_Mutation_p.L245F|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L156F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	245	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GAGGGGCTGAGGAGGATCTTC	0.577		NA											18	65					0	0	0	0
PROKR2	128674	broad.mit.edu	37	20	5294626	5294627	+	Missense_Mutation	DNP	GG	GG	AA	rs144778137	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5294626_5294627GG>AA	uc010zqw.1	-	1	389_390	c.389_390CC>TT	c.(388-390)TCC>TTT	p.S130F	PROKR2_uc010zqx.1_Missense_Mutation_p.S130F|PROKR2_uc010zqy.1_Missense_Mutation_p.S130F|uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GGTAGTTGACGGAGGCACAGAG	0.609		NA								HNSCC(71;0.22)			12	55					0	0	0	0
GPCPD1	56261	broad.mit.edu	37	20	5550825	5550825	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5550825G>A	uc002wme.3	-	12	1330	c.1117C>T	c.(1117-1119)CAT>TAT	p.H373Y	GPCPD1_uc002wmd.3_Missense_Mutation_p.H192Y	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	373	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						GTAAGATCATGATATACCACG	0.353		NA											10	96					0	0	0	0
CHGB	1114	broad.mit.edu	37	20	5903905	5903905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:5903905C>T	uc002wmg.2	+	4	1421	c.1115C>T	c.(1114-1116)GCT>GTT	p.A372V	CHGB_uc010zqz.1_Missense_Mutation_p.A55V	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	372						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						GAATACAGGGCTCCAAGACCT	0.507		NA											51	80					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10630991	10630991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:10630991G>A	uc002wnw.2	-	9	1654	c.1138C>T	c.(1138-1140)CCT>TCT	p.P380S	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	380	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						CAGTTATTAGGAGAACAGTCA	0.458		NA							Alagille_Syndrome				21	27					0	0	0	0
BFSP1	631	broad.mit.edu	37	20	17475391	17475391	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:17475391C>T	uc002wpo.2	-	8	1365	c.1326G>A	c.(1324-1326)GGG>GGA	p.G442G	BFSP1_uc002wpp.2_Silent_p.G317G|BFSP1_uc010zrn.1_Silent_p.G303G|BFSP1_uc010zro.1_Silent_p.G303G	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	442	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						TGTATAGTTTCCCAAAGCCTT	0.507		NA											34	202					0	0	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665797	19665797	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:19665797C>T	uc002wrl.2	+	12	1313	c.1116C>T	c.(1114-1116)GCC>GCT	p.A372A		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	372	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CTGAGGTGGCCATCAAAATCC	0.537		NA											14	115					0	0	0	0
C20orf26	26074	broad.mit.edu	37	20	20208964	20208964	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:20208964C>T	uc002wru.2	+	18	2080	c.2004C>T	c.(2002-2004)ATC>ATT	p.I668I	C20orf26_uc010zse.1_Silent_p.I648I|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.I24I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	668										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		ATGCCAAGATCATTGTGGTTG	0.333		NA											93	110					0	0	0	0
NINL	22981	broad.mit.edu	37	20	25481637	25481637	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25481637C>T	uc002wux.1	-	8	945	c.871G>A	c.(871-873)GAG>AAG	p.E291K	NINL_uc010gdn.1_Missense_Mutation_p.E291K|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.E307K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	291					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CAGCCGCTCTCCTCTGGGACC	0.612		NA											11	20					0	0	0	0
NINL	22981	broad.mit.edu	37	20	25498400	25498400	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25498400G>A	uc002wux.1	-	3	340	c.266C>T	c.(265-267)TCT>TTT	p.S89F	NINL_uc010gdn.1_Missense_Mutation_p.S89F|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.S105F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	89					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TGATTCCAAAGAACTACTGTC	0.378		NA											18	40					0	0	0	0
ZNF337	26152	broad.mit.edu	37	20	25656044	25656044	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:25656044G>A	uc002wva.2	-	4	2402	c.1880C>T	c.(1879-1881)CCT>CTT	p.P627L	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.P595L|ZNF337_uc002wvb.2_Missense_Mutation_p.P627L|ZNF337_uc002wvc.2_Missense_Mutation_p.P627L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCATACAAAAGGCTGCTTGCC	0.498		NA											34	117					0	0	0	0
DEFB115	245929	broad.mit.edu	37	20	29847382	29847382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29847382G>A	uc002wvp.1	+	2	214	c.214G>A	c.(214-216)GAT>AAT	p.D72N		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	beta-defensin 115 precursor	72					defense response to bacterium	extracellular region				ovary(1)	1			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348		NA											7	61					0	0	0	0
DEFB118	117285	broad.mit.edu	37	20	29960871	29960871	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:29960871G>A	uc002wvr.2	+	2	296	c.270G>A	c.(268-270)ACG>ACA	p.T90T		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	beta-defensin 118 precursor	90					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				ovary(3)|pancreas(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TAAGGTTCACGACAGACTACT	0.453		NA											15	108					0	0	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30436629C>T	uc002wwu.1	-	9	783	c.706G>A	c.(706-708)GAG>AAG	p.E236K				Q9H1R2	DUS15_HUMAN	RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607		NA											6	23					0	0	0	0
TTLL9	164395	broad.mit.edu	37	20	30486286	30486286	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30486286G>A	uc010gdx.1	+	4	377	c.124G>A	c.(124-126)GCA>ACA	p.A42T	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.S51N|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	42	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGCAGAGAGCATCGATCCG	0.517		NA											11	88					0	0	0	0
TTLL9	164395	broad.mit.edu	37	20	30522680	30522680	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30522680G>A	uc010gdx.1	+	12	1246	c.993G>A	c.(991-993)CAG>CAA	p.Q331Q	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.Q233Q|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	331	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATCGACCAGGACCTCAAGC	0.398		NA											29	79					0	0	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730848	30730848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30730848C>T	uc002wxj.2	+	6	827	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	TM9SF4_uc010ztr.1_Nonsense_Mutation_p.Q124*|TM9SF4_uc010zts.1_Nonsense_Mutation_p.Q105*|TM9SF4_uc002wxk.2_Nonsense_Mutation_p.Q181*|TM9SF4_uc010gdz.2_Nonsense_Mutation_p.Q105*	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	198						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGAGGACCAGGAGCACAC	0.562		NA											50	54					0	0	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784317	30784317	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30784317G>A	uc002wxn.2	-	3	1646	c.1429C>T	c.(1429-1431)CCT>TCT	p.P477S		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGAAGACAGGAGGCAAGGAG	0.582		NA											25	55					0	0	0	0
PLAGL2	5326	broad.mit.edu	37	20	30785254	30785254	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:30785254G>A	uc002wxn.2	-	3	709	c.492C>T	c.(490-492)ACC>ACT	p.T164T		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	164	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACTCTCAAAGGTCTGCAGGC	0.617		NA											6	31					0	0	0	0
MYH7B	57644	broad.mit.edu	37	20	33568428	33568428	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33568428C>T	uc010gfa.1	+	5	511	c.390C>T	c.(388-390)CTC>CTT	p.L130L	MYH7B_uc002xbi.1_Silent_p.L172L			A7E2Y1	MYH7B_HUMAN	RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;	130	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACAAATGGCTCCCAGTCTATA	0.468		NA											27	242					0	0	0	0
FAM83C	128876	broad.mit.edu	37	20	33875587	33875587	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:33875587C>T	uc010zux.1	-	4	1113	c.995G>A	c.(994-996)AGG>AAG	p.R332K	EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	332										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACATCAGGCCTGAAGGCTAG	0.652		NA											6	9					0	0	0	0
PHF20	51230	broad.mit.edu	37	20	34451277	34451277	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34451277G>A	uc002xek.1	+	6	874	c.763G>A	c.(763-765)GAA>AAA	p.E255K	PHF20_uc002xei.1_Missense_Mutation_p.E255K|PHF20_uc010gfo.1_Missense_Mutation_p.E255K|PHF20_uc002xej.1_Missense_Mutation_p.E139K|PHF20_uc002xel.1_Missense_Mutation_p.E117K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	255					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)					AAACTTGAGGGAACCCAAAAG	0.448		NA											31	180					0	0	0	0
PHF20	51230	broad.mit.edu	37	20	34487531	34487531	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:34487531G>A	uc002xek.1	+	10	1633	c.1522G>A	c.(1522-1524)GAG>AAG	p.E508K	PHF20_uc002xei.1_Missense_Mutation_p.E508K|PHF20_uc010gfo.1_Missense_Mutation_p.E508K|PHF20_uc002xej.1_Missense_Mutation_p.E392K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	508					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)					GCCCAGCCAGGAGACCCTGAC	0.537		NA											26	62					0	0	0	0
RBL1	5933	broad.mit.edu	37	20	35632247	35632248	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35632247_35632248GG>AA	uc002xgi.2	-	21	2972_2973	c.2893_2894CC>TT	c.(2893-2895)CCT>TTT	p.P965F	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.P965F	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	965					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATGTGGAAAAGGAGAGAGTGGT	0.396		NA											13	51					0	0	0	0
C20orf132	140699	broad.mit.edu	37	20	35776293	35776293	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:35776293C>T	uc010zvu.1	-	12	1215	c.1124G>A	c.(1123-1125)AGA>AAA	p.R375K	C20orf132_uc002xgk.2_Missense_Mutation_p.R48K|C20orf132_uc002xgm.2_Missense_Mutation_p.R375K|C20orf132_uc002xgn.2_Missense_Mutation_p.R340K	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	250											0		Myeloproliferative disorder(115;0.00878)				GTGTCCAAGTCTTTGGAATCG	0.478		NA											12	33					0	0	0	0
SRC	6714	broad.mit.edu	37	20	36012652	36012652	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36012652C>T	uc002xgx.2	+	4	545	c.96C>T	c.(94-96)TTC>TTT	p.F32F	SRC_uc002xgy.2_Silent_p.F32F	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	32					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGGGCGCTTTCCCCGCCTCGC	0.751		NA											11	25					0	0	0	0
KIAA0406	9675	broad.mit.edu	37	20	36641079	36641079	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641079G>A	uc002xhl.2	-	3	1349	c.1140C>T	c.(1138-1140)TCC>TCT	p.S380S	KIAA0406_uc002xhm.2_Silent_p.S380S	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	380							binding				0		Myeloproliferative disorder(115;0.00874)				ATGTGGCAAGGGAATGCAGGC	0.463		NA											43	249					0	0	0	0
KIAA0406	9675	broad.mit.edu	37	20	36641942	36641942	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36641942G>A	uc002xhl.2	-	3	486	c.277C>T	c.(277-279)CTC>TTC	p.L93F	KIAA0406_uc002xhm.2_Missense_Mutation_p.L93F	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	93							binding				0		Myeloproliferative disorder(115;0.00874)				AGTTCCTGGAGAAGCTCCTGT	0.493		NA											50	125					0	0	0	0
KIAA1755	85449	broad.mit.edu	37	20	36855595	36855595	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:36855595C>T	uc002xhy.1	-	7	2285	c.2013G>A	c.(2011-2013)AAG>AAA	p.K671K	KIAA1755_uc002xhz.1_Silent_p.K671K	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	671										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GAGCCGCCTCCTTCTCCCCCA	0.602		NA											10	63					0	0	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154598	37154598	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:37154598T>C	uc002xiw.2	+	13	2220	c.1963T>C	c.(1963-1965)TTT>CTT	p.F655L	RALGAPB_uc002xix.2_Missense_Mutation_p.F655L|RALGAPB_uc002xiy.1_Missense_Mutation_p.F655L|RALGAPB_uc002xiz.2_Missense_Mutation_p.F433L|RALGAPB_uc002xja.1_Missense_Mutation_p.F382L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	655					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						ACCAATAACTTTTCTGTCCCT	0.363		NA											40	101					0	0	0	0
PLCG1	5335	broad.mit.edu	37	20	39793697	39793697	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:39793697G>A	uc002xjp.1	+	13	1463	c.1342G>A	c.(1342-1344)GGG>AGG	p.G448R	PLCG1_uc002xjo.1_Missense_Mutation_p.G448R|PLCG1_uc010zwe.1_Missense_Mutation_p.G74R|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	448	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CTCTGCCGACGGGCTCCCCTC	0.597		NA											13	31					0	0	0	0
TOMM34	10953	broad.mit.edu	37	20	43572214	43572214	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:43572214G>A	uc002xmy.2	-	6	845	c.705C>T	c.(703-705)CTC>CTT	p.L235L	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	235	TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				CCAAATAGCAGAGTGCTCTGA	0.463		NA											33	113					0	0	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430653	44430653	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44430653C>T	uc002xpk.2	+	7	582	c.514C>T	c.(514-516)CCT>TCT	p.P172S		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	172						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602		NA											34	114					0	0	0	0
PCIF1	63935	broad.mit.edu	37	20	44574858	44574858	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44574858T>C	uc002xqs.2	+	14	1762	c.1448T>C	c.(1447-1449)CTC>CCC	p.L483P	PCIF1_uc002xqt.2_Missense_Mutation_p.L63P|PCIF1_uc002xqu.2_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	483						nucleus				skin(1)	1						GGCGTGGGCCTCTACGAGGGG	0.667		NA											12	93					0	0	0	0
CD40	958	broad.mit.edu	37	20	44750928	44750928	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:44750928G>A	uc002xrg.1	+	3	264	c.187G>A	c.(187-189)GGT>AGT	p.G63S	CD40_uc002xrf.1_Missense_Mutation_p.G63S|CD40_uc002xrh.1_Missense_Mutation_p.G63S|CD40_uc002xri.1_Missense_Mutation_p.G63S|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	63	TNFR-Cys 2.|Extracellular (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTTCCTTGCGGTGAAAGCGA	0.537		NA							Immune_Deficiency_with_Hyper-IgM				10	106					0	0	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354665	45354665	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45354665G>C	uc002xsl.2	+	2	1087	c.990G>C	c.(988-990)CTG>CTC	p.L330L		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	330	Extracellular (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CAAGCTGTCTGGCTGTGCCCA	0.622		NA											20	72					0	0	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874948	45874948	+	Silent	SNP	G	G	A	rs143651717	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:45874948G>A	uc002xta.1	-	14	2282	c.2028C>T	c.(2026-2028)TCC>TCT	p.S676S	ZMYND8_uc010ghq.1_Silent_p.S353S|ZMYND8_uc010ghr.1_Silent_p.S651S|ZMYND8_uc002xst.1_Silent_p.S604S|ZMYND8_uc002xsu.1_Silent_p.S676S|ZMYND8_uc002xsv.1_Silent_p.S604S|ZMYND8_uc002xsw.1_Silent_p.S428S|ZMYND8_uc002xsx.1_Silent_p.S428S|ZMYND8_uc002xsy.1_Silent_p.S651S|ZMYND8_uc002xsz.1_Silent_p.S613S|ZMYND8_uc010zxy.1_Silent_p.S703S|ZMYND8_uc002xtb.1_Silent_p.S696S|ZMYND8_uc002xss.2_Silent_p.S676S|ZMYND8_uc010zxz.1_Silent_p.S671S|ZMYND8_uc002xtc.1_Silent_p.S696S|ZMYND8_uc002xtd.1_Silent_p.S671S|ZMYND8_uc002xte.1_Silent_p.S676S|ZMYND8_uc010zya.1_Silent_p.S676S|ZMYND8_uc002xtf.1_Silent_p.S696S|ZMYND8_uc002xtg.2_Silent_p.S670S|ZMYND8_uc010ghs.1_Silent_p.S670S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	676							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTGCCTTTTCGGAAAAGTCCT	0.512		NA											43	249					0	0	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587686	47587687	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:47587686_47587687CC>TT	uc002xtx.3	+	10	1372_1373	c.1220_1221CC>TT	c.(1219-1221)TCC>TTT	p.S407F		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	407					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGGTGGTTTCCCTGCAGCTGC	0.446		NA											41	116					0	0	0	0
KCNG1	3755	broad.mit.edu	37	20	49620884	49620884	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:49620884G>A	uc002xwa.3	-	3	1529	c.1234C>T	c.(1234-1236)CCT>TCT	p.P412S		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	412						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TAGCAGGCAGGGATGCTGGTG	0.647		NA											10	56					0	0	0	0
SALL4	57167	broad.mit.edu	37	20	50407413	50407413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:50407413G>A	uc002xwh.3	-	2	1710	c.1609C>T	c.(1609-1611)CAA>TAA	p.Q537*	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	537					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCACTCCCTTGGAAGCCACCA	0.582		NA											86	124					0	0	0	0
ZBP1	81030	broad.mit.edu	37	20	56190040	56190040	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:56190040C>A	uc002xyo.2	-	4	686	c.405G>T	c.(403-405)AGG>AGT	p.R135S	ZBP1_uc010gjm.2_Missense_Mutation_p.R135S|ZBP1_uc002xyp.2_Missense_Mutation_p.R60S|ZBP1_uc010zzn.1_Missense_Mutation_p.R135S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	135	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTTTTGCTGTCCTCATTCCCA	0.473		NA											119	171					9.79e-58	1.02e-57	1	0
VAPB	9217	broad.mit.edu	37	20	57015992	57015992	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57015992C>T	uc002xza.2	+	5	697	c.426C>T	c.(424-426)TCC>TCT	p.S142S	VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_Silent_p.S19S|VAPB_uc002xzc.2_Intron	NM_004738	NP_004729	O95292	VAPB_HUMAN	VAMP-associated protein B/C	142	Cytoplasmic (Potential).				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(1)	1	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AAATTATATCCACAACTGCAT	0.348		NA											6	43					0	0	0	0
ZNF831	128611	broad.mit.edu	37	20	57767538	57767538	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:57767538C>T	uc002yan.2	+	1	1464	c.1464C>T	c.(1462-1464)GTC>GTT	p.V488V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TCCACTCCGTCCCCACTCAGC	0.697		NA											24	33					0	0	0	0
C20orf197	284756	broad.mit.edu	37	20	58645826	58645826	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:58645826G>A	uc002ybj.1	+	4	550	c.244G>A	c.(244-246)GAG>AAG	p.E82K		NM_173644	NP_775915	Q8N268	CT197_HUMAN	hypothetical protein LOC284756	82										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GCAGTCAAGAGAGCTGGGAAA	0.269		NA											5	57					0	0	0	0
C20orf151	140893	broad.mit.edu	37	20	60987714	60987714	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:60987714C>T	uc002ycw.1	-	13	1999	c.1842G>A	c.(1840-1842)CGG>CGA	p.R614R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	614											0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCTTCCTCTTCCGTGGTGGAC	0.701		NA											12	102					0	0	0	0
COL9A3	1299	broad.mit.edu	37	20	61451328	61451328	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61451328G>A	uc002ydm.2	+	5	306	c.303G>A	c.(301-303)GGG>GGA	p.G101G		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	101	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GTGCCCCTGGGGAACGGGTAA	0.662		NA											10	88					0	0	0	0
DIDO1	11083	broad.mit.edu	37	20	61511582	61511583	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61511582_61511583GG>AA	uc002ydr.1	-	16	5989_5990	c.5725_5726CC>TT	c.(5725-5727)CCC>TTC	p.P1909F	DIDO1_uc002yds.1_Missense_Mutation_p.P1909F	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1909	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AAACTGAGAGGGAGGGGGGCCG	0.644		NA											16	74					0	0	0	0
COL20A1	57642	broad.mit.edu	37	20	61950421	61950421	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61950421C>T	uc011aau.1	+	22	2775	c.2675C>T	c.(2674-2676)CCA>CTA	p.P892L	COL20A1_uc011aav.1_Missense_Mutation_p.P713L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	892	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GACGTCTACCCAGCCCCCCTA	0.657		NA											12	47					0	0	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978201	61978201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61978201C>T	uc002yes.2	-	6	1951	c.1773G>A	c.(1771-1773)TGG>TGA	p.W591*	CHRNA4_uc002yet.1_Nonsense_Mutation_p.W415*|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Nonsense_Mutation_p.W520*|CHRNA4_uc002yev.1_Nonsense_Mutation_p.W415*|CHRNA4_uc010gkf.1_Nonsense_Mutation_p.W415*	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	591	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCACGTACTTCCAGTCCTCCT	0.682		NA											41	48					0	0	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981710	61981710	+	Silent	SNP	G	G	A	rs61737042	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:61981710G>A	uc002yes.2	-	5	1231	c.1053C>T	c.(1051-1053)ATC>ATT	p.I351I	CHRNA4_uc002yet.1_Silent_p.I175I|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.I280I|CHRNA4_uc002yev.1_Silent_p.I175I|CHRNA4_uc010gkf.1_Silent_p.I175I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	351	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCGTGGCACGATGTCCAGGA	0.632		NA											32	34					0	0	0	0
PRIC285	85441	broad.mit.edu	37	20	62196773	62196773	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62196773G>A	uc002yfm.2	-	9	4294	c.3402C>T	c.(3400-3402)TTC>TTT	p.F1134F	PRIC285_uc002yfl.1_Silent_p.F565F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1134					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCTCTGGCACGAAAGAGCAGT	0.701		NA											6	24					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62630979	62630979	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr20:62630979T>A	uc002yho.2	+	8	1058	c.890T>A	c.(889-891)CTC>CAC	p.L297H	PRPF6_uc002yhp.2_Missense_Mutation_p.L297H	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	297					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)					GCGCGACTGCTCCTCAAGTCT	0.592		NA											23	113					0	0	0	0
TPTE	7179	broad.mit.edu	37	21	10910350	10910350	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:10910350C>T	uc002yip.1	-	22	1774	c.1406G>A	c.(1405-1407)GGT>GAT	p.G469D	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G451D|TPTE_uc002yir.1_Missense_Mutation_p.G431D|TPTE_uc010gkv.1_Missense_Mutation_p.G331D	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				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)		CAGAGGTAGACCGTCGAATAC	0.343		NA											7	80					0	0	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858399	15858399	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:15858399G>A	uc002yju.1	-	8	1038	c.956C>T	c.(955-957)TCC>TTC	p.S319F	SAMSN1_uc010gky.1_Missense_Mutation_p.S151F|SAMSN1_uc002yjv.1_Missense_Mutation_p.S387F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	319					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGAGCTCAAGGATAGGGGCTC	0.393		NA											6	30					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22841080	22841080	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:22841080G>A	uc002yld.1	+	14	2121	c.1872G>A	c.(1870-1872)TTG>TTA	p.L624L	NCAM2_uc011acb.1_Silent_p.L482L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	624	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCCCTATTTTGGAATACATTG	0.378		NA											8	23					0	0	0	0
GRIK1	2897	broad.mit.edu	37	21	30927416	30927416	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30927416C>T	uc002yno.1	-	16	3028	c.2564G>A	c.(2563-2565)GGA>GAA	p.G855E	GRIK1_uc002ynn.2_Missense_Mutation_p.G840E|GRIK1_uc011acs.1_Missense_Mutation_p.G855E|GRIK1_uc011act.1_Missense_Mutation_p.G716E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	855	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATGAATTCTCCAATAGCTAC	0.398		NA											13	45					0	0	0	0
GRIK1	2897	broad.mit.edu	37	21	30963489	30963489	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:30963489C>A	uc002yno.1	-	10	1772	c.1308G>T	c.(1306-1308)AAG>AAT	p.K436N	GRIK1_uc002ynn.2_Missense_Mutation_p.K421N|GRIK1_uc011acs.1_Missense_Mutation_p.K436N|GRIK1_uc011act.1_Missense_Mutation_p.K365N|GRIK1_uc010glq.1_Missense_Mutation_p.K279N	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	436	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TATTGCTGGACTTGTCTTTGT	0.463		NA											23	71					1.43e-11	1.47e-11	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768437	31768437	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31768437C>T	uc002yoa.2	+	1	46	c.33C>T	c.(31-33)TCC>TCT	p.S11S		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	11						intermediate filament				ovary(1)	1						GAAACTTCTCCTCCCGCTCCT	0.537		NA											43	128					0	0	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31869219C>T	uc011acz.1	-	1	210	c.210G>A	c.(208-210)ACG>ACA	p.T70T		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				ovary(2)	2						CCTCTGATATCGTGTCCTCAG	0.408		NA											33	101					0	0	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933443	31933443	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31933443C>T	uc011adb.1	-	1	166	c.166G>A	c.(166-168)GGA>AGA	p.G56R		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	56						intermediate filament					0						GACCAGTATCCCCCATAGCAT	0.443		NA											25	92					0	0	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988934	31988934	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:31988934G>T	uc011ade.1	+	1	161	c.161G>T	c.(160-162)GGT>GTT	p.G54V	KRTAP6-1_uc002yop.2_5'Flank	NM_181615	NP_853646	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	54						intermediate filament				breast(1)	1						TGGTCATATGGTTTCTACTGA	0.448		NA											26	61					4.78e-09	4.9e-09	1	0
SFRS15	57466	broad.mit.edu	37	21	33067280	33067280	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33067280G>A	uc002ypd.2	-	10	1508	c.1082C>T	c.(1081-1083)CCT>CTT	p.P361L	SFRS15_uc002ype.2_Missense_Mutation_p.P361L|SFRS15_uc010glu.2_Missense_Mutation_p.P346L|SFRS15_uc002ypf.1_Missense_Mutation_p.P35L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	361						nucleus	nucleotide binding|RNA binding				0						TTGTCCATTAGGAGGAAGTGG	0.388		NA											16	40					0	0	0	0
C21orf59	56683	broad.mit.edu	37	21	33954558	33954558	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:33954558C>T	uc002ypy.1	-	7	1043	c.930G>A	c.(928-930)AGG>AGA	p.R310R	TCP10L_uc002ypw.3_Silent_p.R104R|C21orf59_uc002ypx.1_Silent_p.R127R|C21orf59_uc002ypz.1_Silent_p.R278R	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	Error:Variant_position_missing_in_P57076_after_alignment						cytosol|nucleus					0						CAGATTTCTTCCTGGCTTTCC	0.493		NA											27	96					0	0	0	0
IFNAR1	3454	broad.mit.edu	37	21	34727665	34727665	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34727665C>T	uc002yrn.2	+	11	1631	c.1484C>T	c.(1483-1485)TCT>TTT	p.S495F	IFNAR1_uc011adv.1_Missense_Mutation_p.S426F	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	495	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTTTCAACTTCTGAGGAACAA	0.264		NA											14	51					0	0	0	0
SON	6651	broad.mit.edu	37	21	34921999	34921999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34921999C>T	uc002yse.1	+	3	511	c.462C>T	c.(460-462)TCC>TCT	p.S154S	SON_uc002ysb.1_Silent_p.S154S|SON_uc002ysc.2_Silent_p.S154S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	154					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AATCTGATTCCTTTTTAAAGT	0.373		NA											4	25					0	0	0	0
DONSON	29980	broad.mit.edu	37	21	34957051	34957051	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:34957051G>A	uc002ysk.2	-	4	697	c.630C>T	c.(628-630)CTC>CTT	p.L210L	DONSON_uc002ysn.1_Silent_p.L93L|DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Silent_p.L183L|DONSON_uc002ysm.2_Silent_p.L210L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	210					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						AGGTACAACGGAGCTCAGAGG	0.438		NA											13	28					0	0	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618783	37618783	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:37618783C>T	uc002yvg.2	+	19	4584	c.4505C>T	c.(4504-4506)GCG>GTG	p.A1502V	DOPEY2_uc011aeb.1_Missense_Mutation_p.A1451V|DOPEY2_uc002yvh.2_Missense_Mutation_p.A353V	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1502					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CTGGTCTCTGCGGTGGTGAGG	0.652		NA											5	36					0	0	0	0
TTC3	7267	broad.mit.edu	37	21	38461125	38461125	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38461125T>C	uc002yvz.2	+	5	470	c.365T>C	c.(364-366)TTG>TCG	p.L122S	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.L122S|TTC3_uc002ywb.2_Missense_Mutation_p.L122S|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.L122S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	122					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				GAGATAAATTTGAAGAAACTA	0.328		NA											7	25					0	0	0	0
TTC3	7267	broad.mit.edu	37	21	38538152	38538152	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:38538152G>A	uc002yvz.2	+	33	3741	c.3636G>A	c.(3634-3636)AGG>AGA	p.R1212R	TTC3_uc011aee.1_Silent_p.R902R|TTC3_uc002ywa.2_Silent_p.R1212R|TTC3_uc002ywb.2_Silent_p.R1212R|TTC3_uc010gnf.2_Silent_p.R977R|TTC3_uc002ywc.2_Silent_p.R902R|TTC3_uc002ywd.1_Silent_p.R276R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1212					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				CAGCTGCTAGGGAATTTAAAC	0.363		NA											20	51					0	0	0	0
DSCAM	1826	broad.mit.edu	37	21	42080587	42080587	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:42080587G>A	uc002yyq.1	-	2	606	c.154C>T	c.(154-156)CCT>TCT	p.P52S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	52	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCACAGGAGGGATGCCTGCT	0.592		NA											21	78					0	0	0	0
ABCG1	9619	broad.mit.edu	37	21	43708321	43708321	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:43708321G>A	uc002zaq.2	+	10	1265	c.1159G>A	c.(1159-1161)GAC>AAC	p.D387N	ABCG1_uc002zan.2_Missense_Mutation_p.D377N|ABCG1_uc002zam.2_Missense_Mutation_p.D353N|ABCG1_uc002zao.2_Missense_Mutation_p.D372N|ABCG1_uc002zap.2_Missense_Mutation_p.D375N|ABCG1_uc002zar.2_Missense_Mutation_p.D386N|ABCG1_uc011aev.1_Missense_Mutation_p.D398N|ABCG1_uc010gpb.1_Missense_Mutation_p.G27E	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	387	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	GTGTCCTCAGGACTCCTCGTC	0.602		NA											16	29					0	0	0	0
RRP1	8568	broad.mit.edu	37	21	45213238	45213238	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45213238C>T	uc002zds.2	+	4	406	c.313C>T	c.(313-315)CGC>TGC	p.R105C	RRP1_uc011aez.1_Missense_Mutation_p.R105C|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_Missense_Mutation_p.R3C	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	105					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GACCATGAATCGCGAGTGGAC	0.617		NA											23	86					0	0	0	0
DNMT3L	29947	broad.mit.edu	37	21	45668976	45668976	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45668976G>A	uc002zeg.1	-	11	1412	c.928C>T	c.(928-930)CCA>TCA	p.P310S	DNMT3L_uc002zeh.1_Missense_Mutation_p.P310S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	310					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGACATCTGGGATGGTGACT	0.642		NA											6	21					0	0	0	0
AIRE	326	broad.mit.edu	37	21	45708290	45708290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45708290G>A	uc002zei.2	+	5	728	c.601G>A	c.(601-603)GGA>AGA	p.G201R	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	201	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		GGACGTCCCGGGAGCCCGAGG	0.642		NA							Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				19	73					0	0	0	0
TRPM2	7226	broad.mit.edu	37	21	45833900	45833900	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45833900G>T	uc002zet.1	+	21	3302	c.3089G>T	c.(3088-3090)TGC>TTC	p.C1030F	TRPM2_uc002zeu.1_Missense_Mutation_p.C1030F|TRPM2_uc002zew.1_Missense_Mutation_p.C1030F|TRPM2_uc010gpt.1_Missense_Mutation_p.C1030F|TRPM2_uc002zex.1_Missense_Mutation_p.C816F|TRPM2_uc002zey.1_Missense_Mutation_p.C543F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1030	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTCCTACTCTGCCTCTACCTG	0.647		NA											56	246					9.04e-38	9.42e-38	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993969	45993969	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:45993969C>T	uc002zfk.1	+	1	364	c.334C>T	c.(334-336)CCC>TCC	p.P112S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	112	36 X 5 AA repeats of C-C-X(3).|7.					keratin filament					0						CTGCTGCGTGCCCGTCTGCTG	0.637		NA											11	67					0	0	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078117	46078117	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46078117G>A	uc002zft.2	+	1	269	c.221G>A	c.(220-222)GGG>GAG	p.G74E	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	keratin associated protein 12-3	74	10.|14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)	1						CAATCTTCGGGGTGCTGCCAG	0.642		NA											28	59					0	0	0	0
ITGB2	3689	broad.mit.edu	37	21	46326992	46326992	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46326992C>T	uc002zgd.2	-	3	210	c.166G>A	c.(166-168)GAT>AAT	p.D56N	ITGB2_uc002zge.2_Missense_Mutation_p.D56N|ITGB2_uc002zgf.3_Missense_Mutation_p.D56N|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.D56N|ITGB2_uc002zgg.2_Missense_Mutation_p.D56N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	56	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAGTCAGGATCCCCCGGCCCT	0.657		NA											20	43					0	0	0	0
ADARB1	104	broad.mit.edu	37	21	46596324	46596324	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46596324C>T	uc002zgy.2	+	4	1143	c.708C>T	c.(706-708)CCC>CCT	p.P236P	ADARB1_uc002zgr.2_Silent_p.P236P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P236P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P236P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P285P	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	236	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GGAAGAATCCCGTGATGATCT	0.607		NA											21	44					0	0	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950872	46950872	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46950872G>A	uc002zhl.1	-	4	1082	c.963C>T	c.(961-963)TCC>TCT	p.S321S	SLC19A1_uc010gpy.1_Silent_p.S321S|SLC19A1_uc011aft.1_Silent_p.S281S|SLC19A1_uc002zhm.1_Silent_p.S321S|SLC19A1_uc010gpz.1_Silent_p.S200S	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	321	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCGGCGAAGGACGTGATGG	0.706		NA											3	12					0	0	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951419	46951419	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr21:46951419G>A	uc002zhl.1	-	3	952	c.833C>T	c.(832-834)TCG>TTG	p.S278L	SLC19A1_uc010gpy.1_Missense_Mutation_p.S278L|SLC19A1_uc011aft.1_Missense_Mutation_p.S238L|SLC19A1_uc002zhm.1_Missense_Mutation_p.S278L|SLC19A1_uc010gpz.1_Missense_Mutation_p.S157L	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	278	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTAGCCGGCCGAGTTGAAGAC	0.672		NA											35	61					0	0	0	0
IL17RA	23765	broad.mit.edu	37	22	17588619	17588619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17588619C>T	uc002zly.2	+	12	1181	c.1048C>T	c.(1048-1050)CCT>TCT	p.P350S	IL17RA_uc010gqt.2_Intron	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	350	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTTTCCAGGGCCTGGAAGTGA	0.463		NA											5	41					0	0	0	0
CECR2	27443	broad.mit.edu	37	22	17976490	17976490	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:17976490G>A	uc010gqw.1	+	2	277	c.151G>A	c.(151-153)GAA>AAA	p.E51K	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	93					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTGGGAGCTCGAAGAAGGGAA	0.517		NA											20	19					0	0	0	0
MICAL3	57553	broad.mit.edu	37	22	18300221	18300221	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:18300221G>A	uc002zng.3	-	26	5559	c.5206C>T	c.(5206-5208)CCC>TCC	p.P1736S	MICAL3_uc011agl.1_Missense_Mutation_p.P1652S|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1736						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGGACTTGGGTTTGGCGGCG	0.622		NA											9	31					0	0	0	0
CLTCL1	8218	broad.mit.edu	37	22	19217372	19217372	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19217372G>A	uc002zpb.2	-	11	1846	c.1771C>T	c.(1771-1773)CAT>TAT	p.H591Y	CLTCL1_uc011agv.1_Missense_Mutation_p.H591Y|CLTCL1_uc011agw.1_Missense_Mutation_p.H591Y	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	591	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					TGGGGTGCATGAACAAGGTTC	0.512		NA	T	?	ALCL								4	11					0	0	0	0
HIRA	7290	broad.mit.edu	37	22	19344534	19344534	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19344534C>G	uc002zpf.1	-	19	2495	c.2275G>C	c.(2275-2277)GTG>CTG	p.V759L	HIRA_uc011agx.1_Missense_Mutation_p.V625L|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.V715L|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	759	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					GTGGAGAACACTGACAGCATC	0.587		NA											33	125					0	0	0	0
UFD1L	7353	broad.mit.edu	37	22	19444407	19444407	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19444407G>A	uc002zpm.2	-	8	729	c.599C>T	c.(598-600)CCC>CTC	p.P200L	UFD1L_uc002zpo.2_Missense_Mutation_p.P200L|UFD1L_uc011agy.1_Missense_Mutation_p.P200L|UFD1L_uc002zpp.2_Missense_Mutation_p.P153L	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	200					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					Ttgtctttcgggttctttgta	0.313		NA											7	11					0	0	0	0
SEPT5	5413	broad.mit.edu	37	22	19709395	19709395	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19709395C>T	uc002zpv.1	+	10	990	c.865C>T	c.(865-867)CGC>TGC	p.R289C	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	289					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					CATGCTCATCCGCACGCATAT	0.652		NA											8	44					0	0	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865925	19865925	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:19865925C>T	uc011ahc.1	-	15	1344	c.1311G>A	c.(1309-1311)ACG>ACA	p.T437T	TXNRD2_uc002zql.1_Silent_p.T191T|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.T436T|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Silent_p.T87T	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	437					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					GTCCAGCCACCGTGAACTCCA	0.567		NA											25	140					0	0	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385614	21385614	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21385614G>A	uc002zud.2	-	2	556	c.488C>T	c.(487-489)CCC>CTC	p.P163L	SLC7A4_uc002zue.2_Missense_Mutation_p.P163L	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	163				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263).	cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCAGGAGGGGCACCTGCCA	0.642		NA											6	18					0	0	0	0
HIC2	23119	broad.mit.edu	37	22	21799757	21799757	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:21799757C>T	uc002zur.3	+	3	803	c.573C>T	c.(571-573)CTC>CTT	p.L191L	HIC2_uc002zus.3_Silent_p.L191L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	191					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCCAGGAGCTCCCCCAAGCCA	0.677		NA											5	17					0	0	0	0
PPM1F	9647	broad.mit.edu	37	22	22277594	22277594	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:22277594G>A	uc002zvp.1	-	8	1350	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	PPM1F_uc011aik.1_Silent_p.F308F	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	412					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGTCCCTGAGGAAGACCACCA	0.687		NA											39	60					0	0	0	0
GNAZ	2781	broad.mit.edu	37	22	23438266	23438266	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:23438266G>A	uc002zwu.1	+	2	921	c.384G>A	c.(382-384)ATG>ATA	p.M128I	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	128						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TGGGTGTCATGCGACGGCTCT	0.672		NA											12	48					0	0	0	0
RGL4	266747	broad.mit.edu	37	22	24038805	24038805	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24038805G>A	uc002zxn.2	+	7	2261	c.1091G>A	c.(1090-1092)GGG>GAG	p.G364E	LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.G364E|RGL4_uc002zxp.1_Missense_Mutation_p.G228E|RGL4_uc002zxq.2_Missense_Mutation_p.G228E	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation	364	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			ovary(1)	1						TGGCAGGCGGGGAGCTTTAAG	0.657		NA											3	31					0	0	0	0
CABIN1	23523	broad.mit.edu	37	22	24573698	24573698	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:24573698C>T	uc002zzi.1	+	36	6559	c.6432C>T	c.(6430-6432)TTC>TTT	p.F2144F	CABIN1_uc002zzj.1_Silent_p.F2065F|CABIN1_uc002zzl.1_Silent_p.F2144F|CABIN1_uc010gul.1_Silent_p.F82F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2144	Required for interaction with calcineurin (By similarity).				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						CCACCAAGTTCCCCCCTGAGA	0.657		NA											14	23					0	0	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830270	26830270	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:26830270C>T	uc003acg.2	+	2	1086	c.689C>T	c.(688-690)ACC>ATC	p.T230I		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	230	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			ovary(1)	1						GAGTGGTTCACCTTTTACTTG	0.537		NA											13	68					0	0	0	0
CHEK2	11200	broad.mit.edu	37	22	29083922	29083922	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29083922G>A	uc003adu.1	-	15	1667	c.1595C>T	c.(1594-1596)ACC>ATC	p.T532I	CHEK2_uc003ads.1_Missense_Mutation_p.T311I|CHEK2_uc010gvh.1_Missense_Mutation_p.T441I|CHEK2_uc010gvi.1_Missense_Mutation_p.T381I|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.T575I|CHEK2_uc003adv.1_Missense_Mutation_p.T503I|CHEK2_uc003adw.1_Missense_Mutation_p.T532I|CHEK2_uc003adx.1_Missense_Mutation_p.T311I|CHEK2_uc003ady.1_Missense_Mutation_p.T521I|CHEK2_uc003adz.1_Missense_Mutation_p.T336I	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	532					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						GCGCTTTGTGGTCTCGGCACC	0.468		NA	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				9	33					0	0	0	0
NEFH	4744	broad.mit.edu	37	22	29885337	29885337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29885337G>A	uc003afo.2	+	4	1779	c.1708G>A	c.(1708-1710)GAG>AAG	p.E570K	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	570	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament					0						CCCAGAGAAGGAGGAAGCAAA	0.567		NA											8	66					0	0	0	0
THOC5	8563	broad.mit.edu	37	22	29927884	29927884	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:29927884G>A	uc003afr.2	-	9	1118	c.783C>T	c.(781-783)GCC>GCT	p.A261A	THOC5_uc003afs.2_Silent_p.A261A|THOC5_uc003aft.2_Silent_p.A261A|THOC5_uc003afu.2_Silent_p.A261A|THOC5_uc010gvo.2_Missense_Mutation_p.P4L|THOC5_uc003afv.1_Silent_p.A261A	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	261					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						GCAGGTGTCTGGCTGTCTCAT	0.557		NA											13	29					0	0	0	0
OSM	5008	broad.mit.edu	37	22	30660007	30660007	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30660007G>A	uc003ahb.2	-	3	676	c.624C>T	c.(622-624)GTC>GTT	p.V208V		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	208					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			ACTTGCTGAAGACCCGCCCCA	0.667		NA											12	50					0	0	0	0
SEC14L2	23541	broad.mit.edu	37	22	30818340	30818340	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:30818340C>T	uc003ahr.2	+	12	1329	c.1156C>T	c.(1156-1158)CCA>TCA	p.P386S	SEC14L2_uc011akx.1_Missense_Mutation_p.P332S|SEC14L2_uc003ahs.2_Missense_Mutation_p.P312S|SEC14L2_uc011aky.1_Missense_Mutation_p.P303S|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	386					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	GGTCCTGCTTCCAGACAAAGC	0.527		NA											19	65					0	0	0	0
MORC2	22880	broad.mit.edu	37	22	31328351	31328351	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31328351G>A	uc003aje.1	-	25	4014	c.2650C>T	c.(2650-2652)CCT>TCT	p.P884S		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	946							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						CTCACCAGAGGAAAAGATATT	0.463		NA											22	70					0	0	0	0
INPP5J	27124	broad.mit.edu	37	22	31522645	31522645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31522645C>T	uc003aju.3	+	4	1524	c.1432C>T	c.(1432-1434)CTC>TTC	p.L478F	INPP5J_uc010gwf.2_Missense_Mutation_p.L478F|INPP5J_uc003ajv.3_Missense_Mutation_p.L111F|INPP5J_uc003ajs.3_Missense_Mutation_p.L111F|INPP5J_uc011alk.1_Missense_Mutation_p.L411F|INPP5J_uc010gwg.2_Missense_Mutation_p.L43F|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.L110F|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	478	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						CAAGGACGCCCTCTTCACGGA	0.617		NA											39	150					0	0	0	0
SFI1	9814	broad.mit.edu	37	22	31979928	31979928	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:31979928C>T	uc003ale.2	+	13	1709	c.1316C>T	c.(1315-1317)CCC>CTC	p.P439L	SFI1_uc003ald.1_Missense_Mutation_p.P415L|SFI1_uc003alf.2_Missense_Mutation_p.P408L|SFI1_uc003alg.2_Missense_Mutation_p.P357L|SFI1_uc011alp.1_Missense_Mutation_p.P357L|SFI1_uc011alq.1_Missense_Mutation_p.P384L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	439					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GAGCTGCTCCCCTTACTGCAT	0.512		NA											63	113					0	0	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480501	32480501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:32480501G>A	uc003amc.2	+	8	972	c.740G>A	c.(739-741)GGC>GAC	p.G247D	SLC5A1_uc011alz.1_Missense_Mutation_p.G120D	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	247	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GTGTCTGATGGCAACACCACC	0.502		NA											16	34					0	0	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35478537C>T	uc003anj.2	+	2	1207	c.256C>T	c.(256-258)CGT>TGT	p.R86C	ISX_uc011amg.1_Missense_Mutation_p.R74C	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)	5						GCGGAGGGTTCGTACCACCTT	0.557		NA											31	44					0	0	0	0
TOM1	10043	broad.mit.edu	37	22	35723363	35723363	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:35723363G>A	uc003ann.2	+	7	873	c.748G>A	c.(748-750)GAC>AAC	p.D250N	TOM1_uc011ami.1_Missense_Mutation_p.D217N|TOM1_uc011amj.1_Missense_Mutation_p.D93N|TOM1_uc003ans.2_Missense_Mutation_p.D93N|TOM1_uc011amk.1_Missense_Mutation_p.D212N|TOM1_uc003anp.2_Missense_Mutation_p.D250N|TOM1_uc011aml.1_Missense_Mutation_p.D205N|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D244N|TOM1_uc003anr.2_Missense_Mutation_p.D93N	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	250	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CGAGCCCGCAGACCTGGAGCT	0.627		NA											4	31					0	0	0	0
APOL1	8542	broad.mit.edu	37	22	36661678	36661678	+	Missense_Mutation	SNP	C	C	T	rs41311348		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:36661678C>T	uc003apf.2	+	6	964	c.796C>T	c.(796-798)CTT>TTT	p.L266F	APOL1_uc011amn.1_Missense_Mutation_p.L143F|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.L282F|APOL1_uc011amo.1_Missense_Mutation_p.L143F|APOL1_uc011amp.1_Missense_Mutation_p.L266F|APOL1_uc011amq.1_Missense_Mutation_p.L248F|APOL1_uc010gwx.2_Missense_Mutation_p.L143F	NM_003661	NP_003652	O14791	APOL1_HUMAN	apolipoprotein L1 isoform a precursor	266					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|ovary(1)	3						ATCCAACTTTCTTTCCTTAGC	0.507		NA											15	49					0	0	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326786	37326786	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37326786C>T	uc003aqa.3	+	8	1143	c.926C>T	c.(925-927)CCC>CTC	p.P309L	CSF2RB_uc003aqc.3_Missense_Mutation_p.P315L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	309	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	TGCCAGATTCCCGTGCCCGAC	0.612		NA											13	28					0	0	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494578	37494578	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37494578C>T	uc003aqs.1	-	3	355	c.241G>A	c.(241-243)GAG>AAG	p.E81K	TMPRSS6_uc003aqt.1_Missense_Mutation_p.E72K|TMPRSS6_uc003aqu.2_Missense_Mutation_p.E72K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	81	Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						ACCATCACCTCCGCCTTGTAC	0.587		NA											30	124					0	0	0	0
IL2RB	3560	broad.mit.edu	37	22	37524552	37524553	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37524552_37524553CC>TT	uc003aqv.1	-	10	1370_1371	c.1239_1240GG>AA	c.(1237-1242)GGGGAG>GGAAAG	p.E414K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	414	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCGTCGTCCTCCCCTGACAGAG	0.653		NA											20	24					0	0	0	0
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37770430G>A	uc003asq.3	-	3	1931	c.1145C>T	c.(1144-1146)CCC>CTC	p.P382L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	382	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637		NA											11	35					0	0	0	0
CARD10	29775	broad.mit.edu	37	22	37892485	37892485	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:37892485G>A	uc003asx.1	-	13	2033	c.2030C>T	c.(2029-2031)TCC>TTC	p.S677F	CARD10_uc003ast.1_RNA|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'UTR|CARD10_uc003asw.1_Missense_Mutation_p.S391F|CARD10_uc003asy.1_Missense_Mutation_p.S677F	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	677					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GGGGAGTGTGGACCCCTGATT	0.637		NA											11	38					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121032	38121033	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121032_38121033CC>TT	uc003atr.2	+	7	2740_2741	c.2469_2470CC>TT	c.(2467-2472)ATCCCC>ATTTCC	p.P824S	TRIOBP_uc003atu.2_Missense_Mutation_p.P652S|TRIOBP_uc003atq.1_Missense_Mutation_p.P824S|TRIOBP_uc003ats.1_Missense_Mutation_p.P652S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	824					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					AACAGAACATCCCCAGATCATC	0.52		NA											18	70					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121451	38121451	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121451C>T	uc003atr.2	+	7	3159	c.2888C>T	c.(2887-2889)TCC>TTC	p.S963F	TRIOBP_uc003atu.2_Missense_Mutation_p.S791F|TRIOBP_uc003atq.1_Missense_Mutation_p.S963F|TRIOBP_uc003ats.1_Missense_Mutation_p.S791F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	963					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCACCCCAGTCCTCCTTTGGC	0.637		NA											53	86					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121538	38121538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38121538C>T	uc003atr.2	+	7	3246	c.2975C>T	c.(2974-2976)TCC>TTC	p.S992F	TRIOBP_uc003atu.2_Missense_Mutation_p.S820F|TRIOBP_uc003atq.1_Missense_Mutation_p.S992F|TRIOBP_uc003ats.1_Missense_Mutation_p.S820F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	992					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TCCCGAACTTCCTCACCTGTG	0.647		NA											23	119					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130789	38130789	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38130789G>A	uc003atr.2	+	9	4717	c.4446G>A	c.(4444-4446)AGG>AGA	p.R1482R	TRIOBP_uc003atu.2_Silent_p.R1310R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1482					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCACTTCCAGGGAGTACAAGG	0.682		NA											4	18					0	0	0	0
MICALL1	85377	broad.mit.edu	37	22	38318042	38318042	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:38318042C>A	uc003aui.2	+	6	717	c.633C>A	c.(631-633)ACC>ACA	p.T211T		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	211	LIM zinc-binding.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					AGGAGGGCACCTTTGTGTGTG	0.657		NA											32	40					4.32e-19	4.48e-19	1	0
CBX7	23492	broad.mit.edu	37	22	39529949	39529949	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:39529949G>A	uc003axb.2	-	6	792	c.703C>T	c.(703-705)CGC>TGC	p.R235C	CBX7_uc003axc.2_Missense_Mutation_p.R142C	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	235	Required for cellular lifespan extension.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					TGGGCCTCGCGGAAGGTGACG	0.597		NA											27	73					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057260	40057260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40057260C>T	uc003ayc.2	+	16	2846	c.2846C>T	c.(2845-2847)TCC>TTC	p.S949F	CACNA1I_uc003ayd.2_Missense_Mutation_p.S914F|CACNA1I_uc003aye.2_Missense_Mutation_p.S864F|CACNA1I_uc003ayf.2_Missense_Mutation_p.S829F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	949	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCCCTGGGCTCCCGAAAGAGC	0.667		NA											18	18					0	0	0	0
ADSL	158	broad.mit.edu	37	22	40754970	40754970	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40754970C>T	uc003ayp.3	+	5	644	c.585C>T	c.(583-585)TTC>TTT	p.F195F	ADSL_uc003ays.3_Silent_p.F195F|ADSL_uc003ayq.3_Silent_p.F195F|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Silent_p.F180F|ADSL_uc010gyb.1_RNA	NM_000026	NP_000017	P30566	PUR8_HUMAN	adenylosuccinate lyase isoform a	195					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			ovary(1)	1						ACCTGCGCTTCCGGGGAGTAA	0.517		NA											20	58					0	0	0	0
SGSM3	27352	broad.mit.edu	37	22	40804825	40804825	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:40804825C>T	uc003ayu.1	+	18	2090	c.1881C>T	c.(1879-1881)ACC>ACT	p.T627T	SGSM3_uc011aos.1_Silent_p.T560T|SGSM3_uc011aot.1_Silent_p.T538T|SGSM3_uc010gyd.1_Silent_p.T698T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	627	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						AAGTCCTGACCCCGGAGGAGC	0.657		NA											10	56					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41547937	41547937	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41547937C>T	uc003azl.3	+	15	3313	c.2918C>T	c.(2917-2919)TCC>TTC	p.S973F		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	973					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AAGCAGCCTTCCCAGGAAGTG	0.483		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				27	121					0	0	0	0
TOB2	10766	broad.mit.edu	37	22	41833301	41833301	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:41833301A>T	uc003azz.1	-	2	756	c.49T>A	c.(49-51)TAC>AAC	p.Y17N		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	17					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						AGCTTGTTGTACAAGTAGGAG	0.537		NA											16	78					0	0	0	0
XRCC6	2547	broad.mit.edu	37	22	42046861	42046861	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:42046861C>T	uc003bao.1	+	8	1165	c.1095C>T	c.(1093-1095)TCC>TCT	p.S365S	XRCC6_uc003bap.1_Silent_p.S324S|XRCC6_uc011apc.1_Silent_p.S315S|XRCC6_uc003baq.1_Silent_p.S365S|XRCC6_uc003bar.1_Silent_p.S365S|XRCC6_uc003bas.1_Silent_p.S315S	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	365	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5						TGAGGCCCTCCCTGTTCGTGT	0.498		NA						Direct_reversal_of_damage|NHEJ					6	43					0	0	0	0
PACSIN2	11252	broad.mit.edu	37	22	43275168	43275168	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:43275168G>A	uc010gzg.2	-	8	1136	c.914C>T	c.(913-915)TCC>TTC	p.S305F	PACSIN2_uc003bdg.3_Missense_Mutation_p.S305F|PACSIN2_uc003bde.3_Missense_Mutation_p.S305F|PACSIN2_uc003bdf.3_Missense_Mutation_p.S305F	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	305					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CAGGTCTGCGGACCACTCCTA	0.597		NA											13	34					0	0	0	0
SAMM50	25813	broad.mit.edu	37	22	44368775	44368775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44368775C>T	uc003bej.2	+	6	651	c.454C>T	c.(454-456)CTT>TTT	p.L152F	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	152					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCTTCCTAATCTTCTTGGTCG	0.428		NA											38	118					0	0	0	0
PARVG	64098	broad.mit.edu	37	22	44585099	44585099	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:44585099A>C	uc011aqe.1	+	6	777	c.353A>C	c.(352-354)CAG>CCG	p.Q118P	PARVG_uc003bep.2_Missense_Mutation_p.Q118P|PARVG_uc011aqf.1_Missense_Mutation_p.Q118P|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	118	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				CGGAGTCTGCAGCTGGAGGAG	0.647		NA											12	26					0	0	0	0
PHF21B	112885	broad.mit.edu	37	22	45316339	45316340	+	Missense_Mutation	DNP	GT	GT	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45316339_45316340GT>AA	uc003bfn.2	-	3	302_303	c.151_152AC>TT	c.(151-153)ACG>TTG	p.T51L	PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Missense_Mutation_p.T39L|PHF21B_uc011aql.1_Missense_Mutation_p.T51L|PHF21B_uc011aqm.1_Missense_Mutation_p.T39L	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	51							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGAGGACCCGTGACAGGCACT	0.634		NA											4	11					0	0	0	0
SMC1B	27127	broad.mit.edu	37	22	45765889	45765889	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:45765889T>C	uc003bgc.2	-	15	2417	c.2365A>G	c.(2365-2367)ATT>GTT	p.I789V	SMC1B_uc003bgd.2_Missense_Mutation_p.I789V|SMC1B_uc003bge.1_Missense_Mutation_p.I572V	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	789	Potential.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATTCACGAATATTTTCCACG	0.239		NA											19	22					0	0	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654239	46654239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:46654239C>T	uc003bhh.2	-	1	4981	c.4981G>A	c.(4981-4983)GAT>AAT	p.D1661N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1661	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCATTCCATCCAACCTGATC	0.413		NA											17	48					0	0	0	0
CRELD2	79174	broad.mit.edu	37	22	50315256	50315256	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:50315256C>T	uc003bja.2	+	5	574	c.439C>T	c.(439-441)CCC>TCC	p.P147S	CRELD2_uc003biz.3_Missense_Mutation_p.P147S|CRELD2_uc010haj.2_Missense_Mutation_p.P147S|CRELD2_uc010hal.2_Missense_Mutation_p.P147S|CRELD2_uc010hak.2_Missense_Mutation_p.P147S|CRELD2_uc010ham.2_Missense_Mutation_p.P147S	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	147	EGF-like 1.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCCAGAGGCCCTGCAGCGG	0.642		NA											8	26					0	0	0	0
RABL2B	11158	broad.mit.edu	37	22	51207916	51207916	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr22:51207916G>A	uc003bno.1	-	7	687	c.471C>T	c.(469-471)TTC>TTT	p.F157F	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Silent_p.F157F|RABL2B_uc011asf.1_Silent_p.F158F|RABL2B_uc003bnn.1_Silent_p.F158F|RABL2B_uc003bnk.1_Silent_p.F158F|RABL2B_uc011asg.1_Silent_p.F158F|RABL2B_uc003bnl.1_Silent_p.F157F|RABL2B_uc011ash.1_RNA	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	157					small GTPase mediated signal transduction		GTP binding|GTPase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCCGAGACGAAATACAGGG	0.493		NA											29	83					0	0	0	0
CHL1	10752	broad.mit.edu	37	3	383653	383653	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:383653C>T	uc003bou.2	+	7	838	c.567C>T	c.(565-567)TAC>TAT	p.Y189Y	CHL1_uc003bot.2_Silent_p.Y189Y|CHL1_uc003bow.1_Silent_p.Y189Y|CHL1_uc011asi.1_Silent_p.Y189Y	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	189	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAGATCTATACTTCGCAAACG	0.383		NA											4	17					0	0	0	0
CNTN4	152330	broad.mit.edu	37	3	2777999	2777999	+	Silent	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:2777999T>A	uc003bpc.2	+	4	377	c.156T>A	c.(154-156)GTT>GTA	p.V52V	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.V52V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	52	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTGAAGTTAAAGGAAATC	0.343		NA											17	52					0	0	0	0
SUMF1	285362	broad.mit.edu	37	3	4461817	4461817	+	Missense_Mutation	SNP	G	G	A	rs113185435		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4461817G>A	uc003bpz.1	-	4	558	c.533C>T	c.(532-534)CCC>CTC	p.P178L	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.P153L|SUMF1_uc010hby.1_Missense_Mutation_p.P178L|SUMF1_uc011ast.1_Intron	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	178						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TAACCACCAGGGAGCAGCTGC	0.483		NA											9	30					0	0	0	0
ITPR1	3708	broad.mit.edu	37	3	4808218	4808218	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4808218C>T	uc003bqa.2	+	42	5753	c.5405C>T	c.(5404-5406)TCC>TTC	p.S1802F	ITPR1_uc010hca.1_Missense_Mutation_p.S1787F|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S772F	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1850	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTGCAGCACTCCTTTTTCTGT	0.428		NA											9	45					0	0	0	0
ITPR1	3708	broad.mit.edu	37	3	4836803	4836803	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:4836803C>T	uc003bqa.2	+	50	7067	c.6719C>T	c.(6718-6720)TCG>TTG	p.S2240L	ITPR1_uc010hca.1_Missense_Mutation_p.S2225L|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.S1210L|ITPR1_uc010hcc.1_Missense_Mutation_p.S8L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2288	Helical; (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCAGCATTTCGTTTAACCTG	0.527		NA											4	27					0	0	0	0
RPUSD3	285367	broad.mit.edu	37	3	9882388	9882388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9882388G>A	uc011atk.1	-	5	513	c.509C>T	c.(508-510)ACC>ATC	p.T170I	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.T155I|RPUSD3_uc011atm.1_Missense_Mutation_p.T162I|RPUSD3_uc003btn.2_3'UTR	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	170					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)					TCACCAGTAGGTGGCTGTGGG	0.597		NA											8	35					0	0	0	0
CRELD1	78987	broad.mit.edu	37	3	9982847	9982847	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:9982847G>T	uc003bug.2	+	7	808	c.690G>T	c.(688-690)TTG>TTT	p.L230F	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.L230F|CRELD1_uc003buh.2_Missense_Mutation_p.L230F|CRELD1_uc003bui.2_Missense_Mutation_p.L230F|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	230	FU 1.|Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						CAAACTGTTTGCAATGCAAGA	0.592		NA											21	58					1.98e-07	2.03e-07	1	0
TIMP4	7079	broad.mit.edu	37	3	12198975	12198975	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:12198975C>T	uc003bwo.2	-	2	454	c.147G>A	c.(145-147)CGG>CGA	p.R49R	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	49	NTR.						metal ion binding|metalloendopeptidase inhibitor activity				0						AGATTTTGGCCCGAATCACTG	0.493		NA											14	36					0	0	0	0
NUP210	23225	broad.mit.edu	37	3	13407500	13407500	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:13407500G>A	uc003bxv.1	-	14	1961	c.1878C>T	c.(1876-1878)CAC>CAT	p.H626H	NUP210_uc003bxx.2_Silent_p.H298H	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	626	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637		NA											9	34					0	0	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:17226675G>A	uc003cbf.2	-	19	3443	c.1778C>T	c.(1777-1779)TCC>TTC	p.S593F	TBC1D5_uc010heu.2_Missense_Mutation_p.S180F|TBC1D5_uc010hev.2_Missense_Mutation_p.S615F|TBC1D5_uc003cbe.2_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	593						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TTGAAGGAAGGAAATTTGGGC	0.368		NA											7	39					0	0	0	0
KAT2B	8850	broad.mit.edu	37	3	20113935	20113935	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:20113935T>C	uc003cbq.2	+	2	860	c.414T>C	c.(412-414)AGT>AGC	p.S138S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	138					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTGTCGGAGTTGTAGCCATG	0.458		NA											21	85					0	0	0	0
RARB	5915	broad.mit.edu	37	3	25542804	25542804	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:25542804G>T	uc011awl.1	+	3	525	c.459G>T	c.(457-459)ATG>ATT	p.M153I	RARB_uc003cdi.1_Missense_Mutation_p.M34I|RARB_uc003cdh.2_Missense_Mutation_p.M146I	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	153	Nuclear receptor.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGTGGGAATGTCCAAAGAAT	0.403		NA											10	20					7.48e-07	7.63e-07	1	0
RBMS3	27303	broad.mit.edu	37	3	29938882	29938882	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:29938882A>C	uc003cel.2	+	9	1034	c.804A>C	c.(802-804)TCA>TCC	p.S268S	RBMS3_uc003cek.2_Silent_p.S268S|RBMS3_uc010hfq.2_Silent_p.S281S|RBMS3_uc003cem.2_Silent_p.S267S|RBMS3_uc010hfr.2_Silent_p.S268S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	268						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TTTATTCTTCACCGTACAGTA	0.433		NA											31	93					0	0	0	0
CCR4	1233	broad.mit.edu	37	3	32995339	32995339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:32995339C>T	uc003cfg.1	+	2	593	c.425C>T	c.(424-426)GCG>GTG	p.A142V		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	142	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						ATTGTGCACGCGGTGTTTTCC	0.488		NA											40	126					0	0	0	0
GLB1	2720	broad.mit.edu	37	3	33058317	33058318	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33058317_33058318GG>AA	uc003cfi.1	-	14	1479_1480	c.1362_1363CC>TT	c.(1360-1365)GTCCTT>GTTTTT	p.L455F	GLB1_uc003cfh.1_Missense_Mutation_p.L425F|GLB1_uc003cfj.1_Missense_Mutation_p.L324F|GLB1_uc011axk.1_Missense_Mutation_p.L503F	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	455					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				TTTCGCTCAAGGACTCCCTGGG	0.48		NA											14	60					0	0	0	0
GLB1	2720	broad.mit.edu	37	3	33109732	33109733	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33109732_33109733GG>AA	uc003cfi.1	-	4	563_564	c.446_447CC>TT	c.(445-447)TCC>TTT	p.S149F	GLB1_uc003cfh.1_Missense_Mutation_p.S119F|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Missense_Mutation_p.S197F	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	149			S -> F (in MPS4B; 2.0% of wild-type enzyme activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				CTGGGTCGGAGGAGCGGAGAAG	0.361		NA											14	52					0	0	0	0
SUSD5	26032	broad.mit.edu	37	3	33194670	33194670	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:33194670G>A	uc003cfo.1	-	5	1872	c.1454C>T	c.(1453-1455)ACC>ATC	p.T485I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	485	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						ATAGGACAGGGTGGCCATGGG	0.522		NA											7	30					0	0	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033026	37033026	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:37033026T>C	uc003cgk.2	-	1	1770	c.1543A>G	c.(1543-1545)AAT>GAT	p.N515D	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	515						endoplasmic reticulum					0						TTCCAAAGATTAGTGTTTGCC	0.383		NA											6	13					0	0	0	0
DLEC1	9940	broad.mit.edu	37	3	38087117	38087117	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38087117G>A	uc003cho.1	+	2	516	c.495G>A	c.(493-495)GCG>GCA	p.A165A	DLEC1_uc003chp.1_Silent_p.A165A|DLEC1_uc010hgv.1_Silent_p.A165A	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	165					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGGCTATTGCGGAAAATGAGC	0.473		NA											11	41					0	0	0	0
XYLB	9942	broad.mit.edu	37	3	38409713	38409713	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38409713T>C	uc003cic.2	+	8	720	c.611T>C	c.(610-612)TTC>TCC	p.F204S	XYLB_uc011ayp.1_Missense_Mutation_p.F67S|XYLB_uc003cid.1_Missense_Mutation_p.F126S	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	204					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCTTCCCTGTTCCTTGGCTCT	0.517		NA											29	82					0	0	0	0
SCN5A	6331	broad.mit.edu	37	3	38639322	38639322	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38639322G>T	uc003cio.2	-	14	2354	c.2160C>A	c.(2158-2160)GAC>GAA	p.D720E	SCN5A_uc003cin.2_Missense_Mutation_p.D720E|SCN5A_uc003cil.3_Missense_Mutation_p.D720E|SCN5A_uc010hhi.2_Missense_Mutation_p.D720E|SCN5A_uc010hhk.2_Missense_Mutation_p.D720E|SCN5A_uc011ayr.1_Missense_Mutation_p.D720E|SCN5A_uc010hhj.1_Missense_Mutation_p.D331E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	720	Helical; Name=S1 of repeat II; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGATGGTGAGGTCAGTAAACG	0.547		NA											6	54					0.00116845	0.00118027	1	0
SCN10A	6336	broad.mit.edu	37	3	38739520	38739520	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38739520C>T	uc003ciq.2	-	27	5191	c.5191G>A	c.(5191-5193)GAG>AAG	p.E1731K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1731					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGTGCTCTCCTCCGTGGCC	0.478		NA											10	40					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38743591	38743591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38743591G>A	uc003ciq.2	-	26	4396	c.4396C>T	c.(4396-4398)CAG>TAG	p.Q1466*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1466					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAAAACCCTGGAACTTGTTC	0.463		NA											7	30					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38748836	38748836	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:38748836C>T	uc003ciq.2	-	25	4320	c.4320G>A	c.(4318-4320)AAG>AAA	p.K1440K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1440					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTAGTATTTCTTCTGCTCCT	0.537		NA											47	100					0	0	0	0
CCR3	1232	broad.mit.edu	37	3	46306731	46306731	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:46306731G>A	uc003cpg.1	+	4	625	c.82G>A	c.(82-84)GAT>AAT	p.D28N	CCR3_uc003cpi.1_Missense_Mutation_p.D28N|CCR3_uc003cpj.1_Missense_Mutation_p.D28N|CCR3_uc003cpk.1_Missense_Mutation_p.D49N|CCR3_uc010hjb.1_Missense_Mutation_p.D46N|CCR3_uc003cpl.1_Missense_Mutation_p.D61N	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	28	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGAAAAAGCTGATACCAGAGC	0.502		NA											6	21					0	0	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037517	47037517	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47037517C>T	uc003cqp.2	+	15	2306	c.2127C>T	c.(2125-2127)CCC>CCT	p.P709P	NBEAL2_uc010hjm.1_Silent_p.P270P	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	709							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGACAGCACCCCTTCGCTGCC	0.607		NA											4	11					0	0	0	0
KLHL18	23276	broad.mit.edu	37	3	47378140	47378140	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:47378140C>T	uc003crd.2	+	7	1140	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L	KLHL18_uc003crc.2_Silent_p.L338L|KLHL18_uc011bav.1_Silent_p.L226L|KLHL18_uc010hjq.1_Silent_p.L194L	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	338	Kelch 2.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACGGGCTTCTCTATGCCATCG	0.592		NA											15	26					0	0	0	0
PLXNB1	5364	broad.mit.edu	37	3	48447184	48447185	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48447184_48447185CC>TT	uc003csw.2	-	37	6519_6520	c.6249_6250GG>AA	c.(6247-6252)GGGGCG>GGAACG	p.A2084T	PLXNB1_uc003cst.2_Missense_Mutation_p.A534T|PLXNB1_uc003csu.2_Missense_Mutation_p.A1901T|PLXNB1_uc003csx.2_Missense_Mutation_p.A2084T	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	2084	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTCGCGCCCCGAGGTCTC	0.614		NA											9	25					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48677667	48677667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48677667C>T	uc003cul.2	-	34	9632	c.9351G>A	c.(9349-9351)CGG>CGA	p.R3117R	CELSR3_uc003cuf.1_Silent_p.R3215R|CELSR3_uc010hkf.2_Silent_p.R407R|CELSR3_uc010hkg.2_Silent_p.R1100R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3117	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGCTGCCCCGATCTTTGG	0.677		NA											19	33					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48681721	48681721	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48681721C>T	uc003cul.2	-	27	8374	c.8093G>A	c.(8092-8094)GGG>GAG	p.G2698E	CELSR3_uc003cuf.1_Missense_Mutation_p.G2795E|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.G681E	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2698	Helical; Name=5; (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAACATGGTCCCGTTCATCTG	0.502		NA											11	30					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48685393	48685393	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:48685393G>A	uc003cul.2	-	20	7291	c.7010C>T	c.(7009-7011)CCC>CTC	p.P2337L	CELSR3_uc003cuf.1_Missense_Mutation_p.P2407L|CELSR3_uc010hkg.2_Missense_Mutation_p.P320L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2337	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCCCGGGGAGAACTGGG	0.617		NA											33	92					0	0	0	0
HYAL3	8372	broad.mit.edu	37	3	50332191	50332191	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:50332191G>A	uc003czd.1	-	2	1116	c.843C>T	c.(841-843)GTC>GTT	p.V281V	HYAL3_uc003czc.1_Silent_p.V281V|HYAL3_uc003cze.1_Silent_p.V32V|HYAL3_uc003czf.1_Silent_p.V32V|HYAL3_uc003czg.1_Silent_p.V281V	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	281					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATAGGCCAGGACAGGCAGGG	0.637		NA											17	43					0	0	0	0
DOCK3	1795	broad.mit.edu	37	3	51394395	51394395	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:51394395G>A	uc011bds.1	+	44	4529	c.4506G>A	c.(4504-4506)GTG>GTA	p.V1502V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1502	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCCCTAGGTGGAGGTGAGCC	0.517		NA											4	10					0	0	0	0
STAB1	23166	broad.mit.edu	37	3	52544384	52544384	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52544384C>T	uc003dej.2	+	25	2722	c.2648C>T	c.(2647-2649)TCC>TTC	p.S883F		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	883	Extracellular (Potential).|EGF-like 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCCCTGGGTCCCTGGGCACC	0.602		NA											14	46					0	0	0	0
STAB1	23166	broad.mit.edu	37	3	52554682	52554682	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52554682G>A	uc003dej.2	+	54	5748	c.5674G>A	c.(5674-5676)GAG>AAG	p.E1892K	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1892	Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGGGCTGGAGCCACCCTG	0.647		NA											25	60					0	0	0	0
PBRM1	55193	broad.mit.edu	37	3	52676029	52676029	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52676029G>A	uc003des.2	-	10	1040	c.1028C>T	c.(1027-1029)TCA>TTA	p.S343L	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.S343L|PBRM1_uc003der.2_Missense_Mutation_p.S311L|PBRM1_uc003det.2_Missense_Mutation_p.S343L|PBRM1_uc003deu.2_Missense_Mutation_p.S343L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.S343L|PBRM1_uc010hmk.1_Missense_Mutation_p.S343L|PBRM1_uc003dey.2_Missense_Mutation_p.S343L|PBRM1_uc003dez.1_Missense_Mutation_p.S343L|PBRM1_uc003dfb.1_Missense_Mutation_p.S241L	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	343					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTAATTGCTGATAAACGACC	0.368		NA	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								37	144					0	0	0	0
ITIH3	3699	broad.mit.edu	37	3	52836770	52836770	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:52836770T>C	uc003dfv.2	+	13	1693	c.1657T>C	c.(1657-1659)TAC>CAC	p.Y553H	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	553					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTCGGGAATTACATTGAGCG	0.617		NA											6	24					0	0	0	0
RFT1	91869	broad.mit.edu	37	3	53157826	53157826	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53157826G>A	uc003dgj.2	-	3	234	c.180C>T	c.(178-180)TTC>TTT	p.F60F	RFT1_uc003dgk.2_Intron	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	60	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTCTGGCCAGGAAGAGGGTGG	0.498		NA											7	26					0	0	0	0
PRKCD	5580	broad.mit.edu	37	3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:53221364C>T	uc003dgl.2	+	15	1714	c.1361C>T	c.(1360-1362)GCC>GTC	p.A454V	PRKCD_uc003dgm.2_Missense_Mutation_p.A454V	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGGTTTTATGCCGCTGAGATA	0.587		NA											13	65					0	0	0	0
ERC2	26059	broad.mit.edu	37	3	56183087	56183087	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:56183087C>T	uc003dhr.1	-	5	1479	c.1223G>A	c.(1222-1224)GGT>GAT	p.G408D		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	408	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTCAGCACACCATTGGCTTT	0.403		NA											17	43					0	0	0	0
PTPRG	5793	broad.mit.edu	37	3	62188887	62188887	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62188887T>C	uc003dlb.2	+	12	2137	c.1418T>C	c.(1417-1419)ATC>ACC	p.I473T	PTPRG_uc003dlc.2_Missense_Mutation_p.I473T	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	473	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGGCCCCCATCAGCTCGGGG	0.587		NA											21	68					0	0	0	0
PTPRG	5793	broad.mit.edu	37	3	62257095	62257095	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:62257095G>A	uc003dlb.2	+	21	3766	c.3047G>A	c.(3046-3048)AGG>AAG	p.R1016K	PTPRG_uc003dlc.2_Missense_Mutation_p.R987K|PTPRG_uc011bfi.1_Missense_Mutation_p.R262K|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGAATGAAAGGGTAGTGATC	0.478		NA											10	37					0	0	0	0
THOC7	80145	broad.mit.edu	37	3	63823658	63823658	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63823658G>A	uc003dlt.3	-	4	477	c.346C>T	c.(346-348)CGC>TGC	p.R116C	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Missense_Mutation_p.R53C	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	116	Potential.|Interaction with THOC5.|Interaction with NIF3L1.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		TTACCTTGGCGATTTTTTCGT	0.348		NA											29	69					0	0	0	0
ATXN7	6314	broad.mit.edu	37	3	63976037	63976037	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:63976037C>T	uc003dlw.3	+	10	2100	c.1547C>T	c.(1546-1548)CCT>CTT	p.P516L	ATXN7_uc003dlv.2_Missense_Mutation_p.P516L|ATXN7_uc010hnv.2_Missense_Mutation_p.P516L|ATXN7_uc011bfn.1_Missense_Mutation_p.P371L	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	516					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTCATCATCCTCAGCCAGCA	0.572		NA											9	31					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587787	64587788	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:64587787_64587788GG>AA	uc003dmg.2	-	26	3881_3882	c.3849_3850CC>TT	c.(3847-3852)ATCCCA>ATTTCA	p.P1284S	ADAMTS9_uc011bfo.1_Missense_Mutation_p.P1256S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P1113S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P195S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1284	TSP type-1 8.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCAGTTTCTGGGATATAATCCT	0.545		NA											25	69					0	0	0	0
CNTN3	5067	broad.mit.edu	37	3	74418486	74418486	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:74418486A>C	uc003dpm.1	-	7	880	c.800T>G	c.(799-801)CTG>CGG	p.L267R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	267	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAAAATGGCAGCCCATCACT	0.403		NA											19	38					0	0	0	0
NSUN3	63899	broad.mit.edu	37	3	93803120	93803120	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:93803120G>A	uc003drl.1	+	3	408	c.292G>A	c.(292-294)GGC>AGC	p.G98S		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	NOL1/NOP2/Sun domain family, member 3	98							methyltransferase activity			skin(1)	1						CAGAACTCCGGGCCGAATCCC	0.423		NA											12	55					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97887665	97887665	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:97887665G>A	uc011bgu.1	+	1	122	c.122G>A	c.(121-123)GGG>GAG	p.G41E		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ACCATCATGGGGAATCTTGGT	0.408		NA											87	145					0	0	0	0
OR5K1	26339	broad.mit.edu	37	3	98188840	98188840	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:98188840C>T	uc003dsm.2	+	1	420	c.420C>T	c.(418-420)CTC>CTT	p.L140L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						CCAAGAAACTCTGCATTCAGA	0.468		NA											20	107					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	100995507	100995507	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:100995507C>T	uc003duq.1	-	5	786	c.583_splice	c.e5+1	p.D195_splice	IMPG2_uc011bhe.1_Splice_Site_p.D58_splice	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CAAAAGTATACCTCCCAATGT	0.318		NA											20	45					0	0	0	0
CD96	10225	broad.mit.edu	37	3	111261150	111261150	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:111261150G>T	uc003dxw.2	+	1	225	c.55G>T	c.(55-57)GTC>TTC	p.V19F	CD96_uc003dxv.2_Missense_Mutation_p.V19F|CD96_uc003dxx.2_Missense_Mutation_p.V19F|CD96_uc010hpy.1_Missense_Mutation_p.V19F	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	19					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						GATACATTTTGTCAAGGGTAA	0.438		NA							Opitz_Trigonocephaly_syndrome				23	35					1.97e-08	2.02e-08	1	0
BOC	91653	broad.mit.edu	37	3	112991948	112991948	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:112991948C>T	uc003dzx.2	+	8	1615	c.994C>T	c.(994-996)CTG>TTG	p.L332L	BOC_uc003dzy.2_Silent_p.L332L|BOC_uc003dzz.2_Silent_p.L332L|BOC_uc003eab.2_Silent_p.L33L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	332	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			GCTATCCCAGCTGGTCATCCC	0.632		NA											22	61					0	0	0	0
SIDT1	54847	broad.mit.edu	37	3	113323756	113323756	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113323756G>A	uc003eak.2	+	14	1989	c.1338_splice	c.e14-1	p.W446_splice	SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.W446_splice|SIDT1_uc011big.1_Splice_Site_p.W199_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor							integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TGCCTGCATAGGAACATCATC	0.453		NA											19	114					0	0	0	0
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:113858410C>T	uc003ebd.2	-	6	1083	c.660G>A	c.(658-660)CGG>CGA	p.R220R	DRD3_uc010hqn.1_Silent_p.R220R|DRD3_uc003ebb.1_Silent_p.R220R|DRD3_uc003ebc.1_Silent_p.R220R	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	220	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507		NA											63	115					0	0	0	0
PLA1A	51365	broad.mit.edu	37	3	119325781	119325781	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:119325781C>A	uc003ecu.2	+	2	273	c.234C>A	c.(232-234)TTC>TTA	p.F78L	PLA1A_uc003ecv.2_Missense_Mutation_p.F78L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	78					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACTCTGGGTTCAATGCCACTC	0.443		NA											39	153					8.48e-28	8.83e-28	1	0
POLQ	10721	broad.mit.edu	37	3	121151809	121151809	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121151809G>A	uc003eee.3	-	29	7744	c.7615C>T	c.(7615-7617)CAT>TAT	p.H2539Y	POLQ_uc003eed.2_Missense_Mutation_p.H1711Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2539					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AGTTCATCATGGAGTTGAAGG	0.413		NA						DNA_polymerases_(catalytic_subunits)					28	28					0	0	0	0
POLQ	10721	broad.mit.edu	37	3	121207527	121207527	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121207527G>A	uc003eee.3	-	16	4380	c.4251C>T	c.(4249-4251)TTC>TTT	p.F1417F	POLQ_uc003eed.2_Silent_p.F589F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1417					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TTGGAGAATGGAAAATCGGGC	0.343		NA						DNA_polymerases_(catalytic_subunits)					12	62					0	0	0	0
CD86	942	broad.mit.edu	37	3	121828255	121828255	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:121828255G>A	uc003eet.2	+	5	963	c.847G>A	c.(847-849)GGA>AGA	p.G283R	CD86_uc011bjo.1_Missense_Mutation_p.G201R|CD86_uc011bjp.1_Missense_Mutation_p.G171R|CD86_uc003eeu.2_Missense_Mutation_p.G277R	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	283	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTATAAATGTGGTGAGTGAGT	0.473		NA											27	129					0	0	0	0
CASR	846	broad.mit.edu	37	3	122003885	122003886	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:122003885_122003886GG>AA	uc003eev.3	+	7	3456_3457	c.3084_3085GG>AA	c.(3082-3087)CAGGAA>CAAAAA	p.E1029K	CASR_uc003eew.3_Missense_Mutation_p.E1039K	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1029	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGACCGTCCAGGAAACAGGTCT	0.584		NA											9	59					0	0	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125855667	125855667	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:125855667C>T	uc003eim.1	-	11	1474	c.1284G>A	c.(1282-1284)GGG>GGA	p.G428G	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.G327G|ALDH1L1_uc003eio.2_Silent_p.G130G|ALDH1L1_uc010hsf.1_Silent_p.G454G	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	428	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACGAACTCCCCCCCAATGA	0.592		NA											4	16					0	0	0	0
H1FOO	132243	broad.mit.edu	37	3	129267879	129267879	+	Silent	SNP	G	G	A	rs145471008		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129267879G>A	uc003emu.2	+	3	419	c.414G>A	c.(412-414)AGG>AGA	p.R138R	H1FOO_uc003emv.2_5'UTR	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	138					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	p.R138R(1)		skin(1)	1						TCCAGCCCAGGAAGATGGCCC	0.647		NA											3	19					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129292537C>T	uc003emx.2	-	13	2837	c.2737G>A	c.(2737-2739)GGA>AGA	p.G913R		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	913	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGGTTCCTTCCTCGGATGGTC	0.657		NA											7	20					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129324699	129324699	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129324699C>T	uc003emx.2	-	1	884	c.784G>A	c.(784-786)GAC>AAC	p.D262N		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	262	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGGATGTTGTCGTCGGAGGGG	0.662		NA											3	18					0	0	0	0
TRH	7200	broad.mit.edu	37	3	129695865	129695865	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:129695865G>A	uc003enc.2	+	3	1096	c.535G>A	c.(535-537)GAC>AAC	p.D179N		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	179					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						gagagaggaagaCCTGATGCC	0.532		NA											17	30					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130313125	130313125	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130313125G>A	uc010htl.2	+	17	4502	c.4471G>A	c.(4471-4473)GGA>AGA	p.G1491R	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1491	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						TTAACTTTAGGGAAGCCCAGG	0.428		NA											10	64					0	0	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452399	130452399	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:130452399G>A	uc003enj.2	-	4	2024	c.1443C>T	c.(1441-1443)GCC>GCT	p.A481A		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	481	HEAT 2.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						TACCAGCATAGGCTAGTCTAA	0.353		NA											8	46					0	0	0	0
PCCB	5096	broad.mit.edu	37	3	136046022	136046022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136046022C>T	uc003eqy.1	+	12	1275	c.1224C>T	c.(1222-1224)ATC>ATT	p.I408I	PCCB_uc003eqz.1_Silent_p.I408I|PCCB_uc011bmc.1_Silent_p.I428I|PCCB_uc011bmd.1_3'UTR	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	408	Carboxyltransferase.		Missing (in PA-2).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	ACGGGGGCATCATCCGGCATG	0.522		NA											33	40					0	0	0	0
IL20RB	53833	broad.mit.edu	37	3	136708318	136708318	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:136708318G>A	uc003eri.1	+	4	691	c.442G>A	c.(442-444)GAT>AAT	p.D148N	IL20RB_uc003erj.1_RNA|IL20RB_uc010hud.1_Missense_Mutation_p.D6N	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	148	Extracellular (Potential).|Fibronectin type-III 2.					integral to membrane	receptor activity			ovary(1)	1						GATCACCAAAGATGGCTTCCA	0.567		NA											9	55					0	0	0	0
GRK7	131890	broad.mit.edu	37	3	141499323	141499323	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:141499323G>A	uc011bnd.1	+	2	804	c.720G>A	c.(718-720)AAG>AAA	p.K240K		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	240	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TCTTGGAAAAGGAAATCTTGG	0.498		NA											19	76					0	0	0	0
XRN1	54464	broad.mit.edu	37	3	142048324	142048324	+	Silent	SNP	G	G	A	rs139447998		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:142048324G>A	uc003eus.2	-	37	4420	c.4353C>T	c.(4351-4353)TCC>TCT	p.S1451S	XRN1_uc010huu.2_Silent_p.S918S|XRN1_uc003eut.2_Silent_p.S1451S|XRN1_uc003euu.2_Silent_p.S1452S	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1451					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TTCCAACAAGGGAACAAATTC	0.388		NA											12	31					0	0	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371183	143371183	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:143371183G>A	uc003evn.2	-	6	851	c.669C>T	c.(667-669)TTC>TTT	p.F223F	SLC9A9_uc011bnk.1_Silent_p.F97F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	223	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GCAGTTCATGGAAAATGGCCA	0.473		NA											8	21					0	0	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205446	149205446	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:149205446G>A	uc003exd.1	+	3	536	c.305G>A	c.(304-306)GGA>GAA	p.G102E		NM_004617	NP_004608	P48230	T4S4_HUMAN	transmembrane 4 superfamily member 4	102	Helical; (Potential).					integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GGATTCTTGGGAGCTGGATAC	0.478		NA											17	58					0	0	0	0
CLRN1	7401	broad.mit.edu	37	3	150690369	150690369	+	Missense_Mutation	SNP	C	C	T	rs111033434		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150690369C>T	uc003eyk.1	-	1	418	c.127G>A	c.(127-129)GGA>AGA	p.G43R	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	43					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCAGAGCTCCCGTTTTGCAG	0.547		NA											26	102					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	150876480	150876480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:150876480G>A	uc003eyp.2	+	6	769	c.731G>A	c.(730-732)GGA>GAA	p.G244E	MED12L_uc011bnz.1_Missense_Mutation_p.G244E|MED12L_uc003eym.1_Missense_Mutation_p.G244E|MED12L_uc003eyn.2_Missense_Mutation_p.G244E|MED12L_uc003eyo.2_Missense_Mutation_p.G244E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	244					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAAGGAAGGAATGTTAGAA	0.303		NA											9	26					0	0	0	0
IGSF10	285313	broad.mit.edu	37	3	151155338	151155338	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:151155338C>T	uc011bod.1	-	6	7011	c.7011G>A	c.(7009-7011)CCG>CCA	p.P2337P	IGSF10_uc011bob.1_Silent_p.P364P|IGSF10_uc011boc.1_Silent_p.P316P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2337	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433		NA											41	69					0	0	0	0
VEPH1	79674	broad.mit.edu	37	3	157082173	157082173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157082173C>T	uc003fbj.1	-	8	1573	c.1256G>A	c.(1255-1257)GGG>GAG	p.G419E	VEPH1_uc003fbk.1_Missense_Mutation_p.G419E|VEPH1_uc010hvu.1_Missense_Mutation_p.G419E	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	419						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTATTGCTCCCTGCATTTAT	0.373		NA											14	87					0	0	0	0
VEPH1	79674	broad.mit.edu	37	3	157099102	157099102	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:157099102G>A	uc003fbj.1	-	7	1287	c.970C>T	c.(970-972)CAC>TAC	p.H324Y	VEPH1_uc003fbk.1_Missense_Mutation_p.H324Y|VEPH1_uc010hvu.1_Missense_Mutation_p.H324Y	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	324						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAATATGGTGAAACGAATGC	0.473		NA											14	67					0	0	0	0
BCHE	590	broad.mit.edu	37	3	165503942	165503942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:165503942C>A	uc003fem.3	-	3	1835	c.1675G>T	c.(1675-1677)GAA>TAA	p.E559*	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	559					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)	CCTGTCATTTCCAAGACTTTT	0.358		NA											11	51					6.82e-15	7.05e-15	1	0
LRRIQ4	344657	broad.mit.edu	37	3	169540214	169540214	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:169540214G>A	uc003fgb.2	+	1	505	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	169	LRR 7.										0						CAAGCTGAGGGAGATCTACCT	0.493		NA											9	54					0	0	0	0
PLD1	5337	broad.mit.edu	37	3	171443857	171443857	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:171443857G>A	uc003fhs.2	-	7	732	c.616C>T	c.(616-618)CTT>TTT	p.L206F	PLD1_uc003fht.2_Missense_Mutation_p.L206F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	206	PX.				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)	CTTATATCAAGAAACTCTGTC	0.318		NA											16	48					0	0	0	0
MFN1	55669	broad.mit.edu	37	3	179104303	179104304	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179104303_179104304GG>AA	uc003fjs.2	+	16	2024_2025	c.1898_1899GG>AA	c.(1897-1899)TGG>TAA	p.W633*	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Nonsense_Mutation_p.W661*|MFN1_uc010hxc.2_Nonsense_Mutation_p.W375*	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	633	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTGAGCTGGACCACCCATG	0.401		NA											20	62					0	0	0	0
PEX5L	51555	broad.mit.edu	37	3	179576913	179576913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:179576913G>A	uc003fki.1	-	8	889	c.759C>T	c.(757-759)AGC>AGT	p.S253S	PEX5L_uc011bqd.1_Silent_p.S210S|PEX5L_uc011bqe.1_Silent_p.S61S|PEX5L_uc011bqf.1_Silent_p.S145S|PEX5L_uc003fkj.1_Silent_p.S218S|PEX5L_uc010hxd.1_Silent_p.S251S|PEX5L_uc011bqg.1_Silent_p.S229S|PEX5L_uc011bqh.1_Silent_p.S194S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	253					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AAAGTAATGCGCTTCCCCAGC	0.368		NA											23	80					0	0	0	0
KLHL6	89857	broad.mit.edu	37	3	183217505	183217505	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183217505C>T	uc003flr.2	-	4	1078	c.1020G>A	c.(1018-1020)CTG>CTA	p.L340L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	340	Kelch 1.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCAGGGGGTCCAGGCAGGTCA	0.577		NA											11	54					0	0	0	0
KLHL24	54800	broad.mit.edu	37	3	183368285	183368285	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183368285C>T	uc003flv.2	+	3	436	c.141C>T	c.(139-141)TCC>TCT	p.S47S	KLHL24_uc003flw.2_Silent_p.S47S|KLHL24_uc003flx.2_Silent_p.S47S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	47						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGGATCATCCCATGCCGAAA	0.403		NA											21	93					0	0	0	0
YEATS2	55689	broad.mit.edu	37	3	183508723	183508723	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183508723C>T	uc003fly.2	+	21	3247	c.3052C>T	c.(3052-3054)CTC>TTC	p.L1018F	YEATS2_uc003flz.2_Missense_Mutation_p.L97F	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1018					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCACGTCCCTCGTGCCTAC	0.537		NA											26	90					0	0	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:183756374G>A	uc011bqv.1	+	7	1097	c.1097G>A	c.(1096-1098)GGA>GAA	p.G366E	HTR3D_uc003fmj.2_Missense_Mutation_p.G191E|HTR3D_uc011bqu.1_Missense_Mutation_p.G316E|HTR3D_uc010hxp.2_Missense_Mutation_p.G145E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	366	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.512		NA											3	20					0	0	0	0
CLCN2	1181	broad.mit.edu	37	3	184064422	184064422	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184064422G>C	uc003foi.2	-	24	2793	c.2669C>G	c.(2668-2670)CCT>CGT	p.P890R	CLCN2_uc003foh.2_Missense_Mutation_p.P379R|CLCN2_uc010hya.1_Missense_Mutation_p.P873R|CLCN2_uc011brl.1_Missense_Mutation_p.P861R|CLCN2_uc011brm.1_Missense_Mutation_p.P846R	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	890	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTGTCGGAAGGGCTGCCCTC	0.622		NA											6	52					0	0	0	0
CLCN2	1181	broad.mit.edu	37	3	184071990	184071990	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:184071990C>T	uc003foi.2	-	15	1744	c.1620G>A	c.(1618-1620)CTG>CTA	p.L540L	CLCN2_uc003foh.2_Silent_p.L64L|CLCN2_uc010hya.1_Silent_p.L523L|CLCN2_uc011brl.1_Silent_p.L540L|CLCN2_uc011brm.1_Silent_p.L496L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	540	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGCGTTGGCCAGGATGACGG	0.612		NA									OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	33					0	0	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146818	185146818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185146818C>T	uc010hyf.2	+	3	715	c.449C>T	c.(448-450)TCC>TTC	p.S150F	MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_Intron|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.S150F|MAP3K13_uc010hyg.2_5'UTR	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	150					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443		NA											9	41					0	0	0	0
TRA2B	6434	broad.mit.edu	37	3	185643253	185643253	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:185643253C>G	uc003fpv.2	-	3	608	c.332G>C	c.(331-333)CGG>CCG	p.R111P	TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R11P|TRA2B_uc003fpw.2_Missense_Mutation_p.R111P	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	111	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						TCATCTTACCCGATTCCCAAC	0.443		NA											16	59					0	0	0	0
CLDN16	10686	broad.mit.edu	37	3	190122651	190122651	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190122651C>T	uc003fsi.2	+	3	596	c.528C>T	c.(526-528)CTC>CTT	p.L176L	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	176	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TGAAATTCCTCCCTGATGAGC	0.502		NA											19	60					0	0	0	0
IL1RAP	3556	broad.mit.edu	37	3	190363561	190363562	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190363561_190363562CC>TT	uc003fsm.1	+	11	1481_1482	c.1275_1276CC>TT	c.(1273-1278)CTCCGT>CTTTGT	p.R426C	IL1RAP_uc010hzg.1_Missense_Mutation_p.R426C|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R426C|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R426C	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	426	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TACTGACCCTCCGTGGAGTTTT	0.406		NA											29	49					0	0	0	0
OSTN	344901	broad.mit.edu	37	3	190930354	190930354	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:190930354C>T	uc011bsn.1	+	1	33	c.33C>T	c.(31-33)TTC>TTT	p.F11F		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	11					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)|skin(1)	2	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GTGCACATTTCATCCTGGCTG	0.398		NA											17	21					0	0	0	0
HRASLS	57110	broad.mit.edu	37	3	192980899	192980899	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:192980899C>T	uc003fta.2	+	3	685	c.280C>T	c.(280-282)CCT>TCT	p.P94S		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	94											0	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CCCCCCTCTCCCTGTGGAAGA	0.428		NA											21	90					0	0	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174805	193174805	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:193174805A>T	uc003ftd.2	-	16	2007	c.1899T>A	c.(1897-1899)TTT>TTA	p.F633L	ATP13A4_uc003fte.1_Missense_Mutation_p.F633L|ATP13A4_uc011bsr.1_Missense_Mutation_p.F104L|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	633	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAGGTTGGCAAAAGCTGGCCA	0.368		NA											8	23					0	0	0	0
LSG1	55341	broad.mit.edu	37	3	194390864	194390864	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:194390864A>G	uc003fui.2	-	2	415	c.100T>C	c.(100-102)TTG>CTG	p.L34L		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	34					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTGTGTGCAACTATGAAAAA	0.433		NA											22	64					0	0	0	0
MUC4	4585	broad.mit.edu	37	3	195516890	195516890	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:195516890G>A	uc011bto.1	-	2	2021	c.1561C>T	c.(1561-1563)CCA>TCA	p.P521S	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P403S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	526					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTAGATGGATTTCCTGTG	0.532		NA											25	79					0	0	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427593	197427593	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197427593G>A	uc003fyc.2	-	7	1335	c.1152C>T	c.(1150-1152)CTC>CTT	p.L384L	KIAA0226_uc003fyd.3_Silent_p.L324L|KIAA0226_uc003fye.1_Silent_p.L91L|KIAA0226_uc003fyf.2_Silent_p.L217L|KIAA0226_uc003fyg.2_Silent_p.L377L	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	384	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGGACCTGCGGAGGACACTGG	0.582		NA											13	59					0	0	0	0
KIAA0226	9711	broad.mit.edu	37	3	197432014	197432014	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr3:197432014G>A	uc003fyc.2	-	3	435	c.252C>T	c.(250-252)TTC>TTT	p.F84F	KIAA0226_uc003fyd.3_Silent_p.F24F|KIAA0226_uc003fyf.2_5'UTR|KIAA0226_uc003fyg.2_Silent_p.F77F	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	84	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGTCTTTCACGAACTGCCAGT	0.562		NA											6	31					0	0	0	0
DGKQ	1609	broad.mit.edu	37	4	961572	961572	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:961572G>A	uc003gbw.2	-	7	904	c.830C>T	c.(829-831)GCC>GTC	p.A277V	DGKQ_uc010ibn.2_Missense_Mutation_p.A277V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	277					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCCCGTCGGCGCCGTCGCC	0.746		NA											3	11					0	0	0	0
HTT	3064	broad.mit.edu	37	4	3230704	3230704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:3230704C>T	uc011bvq.1	+	60	8228	c.8083C>T	c.(8083-8085)CCG>TCG	p.P2695S		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2693					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGAGGACCCCGGCCATCCT	0.502		NA											10	18					0	0	0	0
DRD5	1816	broad.mit.edu	37	4	9784209	9784209	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:9784209G>A	uc003gmb.3	+	1	952	c.556G>A	c.(556-558)GCC>ACC	p.A186T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	186	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACCAGGCGGCCTCTTGGGG	0.617		NA											13	40					0	0	0	0
CC2D2A	57545	broad.mit.edu	37	4	15572023	15572023	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:15572023T>A	uc010idv.2	+	29	3743	c.3498T>A	c.(3496-3498)GAT>GAA	p.D1166E	CC2D2A_uc003gnx.2_Missense_Mutation_p.D1117E|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1166	C2.				cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						TCCTTTAGGATGACCGTGAAA	0.338		NA											3	10					0	0	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815563	23815563	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:23815563C>T	uc003gqs.2	-	8	1663	c.1543G>A	c.(1543-1545)GAA>AAA	p.E515K	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	515					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CTTTCATCTTCGCTGTCATCA	0.413		NA											21	46					0	0	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665876	25665876	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:25665876G>A	uc003grr.2	+	4	384	c.303G>A	c.(301-303)TTG>TTA	p.L101L	SLC34A2_uc003grs.2_Silent_p.L100L|SLC34A2_uc010iev.2_Silent_p.L100L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	101	Helical; Name=M1; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				TTGGGAGATTGATTTTACTTC	0.478		NA											14	60					0	0	0	0
CCKAR	886	broad.mit.edu	37	4	26483501	26483501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:26483501C>T	uc003gse.1	-	5	1199	c.1046G>A	c.(1045-1047)GGA>GAA	p.G349E		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	349	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	AATGGGGGTTCCTGAGAGGCG	0.597		NA											19	61					0	0	0	0
TBC1D1	23216	broad.mit.edu	37	4	38126639	38126639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:38126639G>A	uc003gtb.2	+	18	3362	c.3019G>A	c.(3019-3021)GGA>AGA	p.G1007R	TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Missense_Mutation_p.G794R|TBC1D1_uc003gtd.2_Missense_Mutation_p.G19R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	1007						nucleus	Rab GTPase activator activity			ovary(1)	1						AAGTCTGTTGGGAAGCCATAA	0.393		NA											11	54					0	0	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351346	40351346	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:40351346G>T	uc003gva.1	+	4	829	c.813G>T	c.(811-813)CTG>CTT	p.L271L		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9	271	Helical; (Potential).				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(3)|skin(3)|central_nervous_system(1)	7					Nicotine(DB00184)	AGGTCTCCCTGGGAGTGACCA	0.507		NA											43	163					1.52e-26	1.59e-26	1	0
KCTD8	386617	broad.mit.edu	37	4	44176945	44176945	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:44176945C>T	uc003gwu.2	-	2	1568	c.1284G>A	c.(1282-1284)AAG>AAA	p.K428K		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	428						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						CACAGACTTTCTTTTTGGACA	0.418		NA								HNSCC(17;0.042)			43	183					0	0	0	0
FRYL	285527	broad.mit.edu	37	4	48542476	48542476	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:48542476G>A	uc003gyh.1	-	46	6794	c.6189C>T	c.(6187-6189)TTC>TTT	p.F2063F	FRYL_uc003gyg.1_Silent_p.F759F|FRYL_uc003gyi.1_Silent_p.F951F|FRYL_uc003gyj.1_Silent_p.F358F	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2063					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AACCCTTAAGGAAGAGCTGCT	0.398		NA											21	89					0	0	0	0
SPATA18	132671	broad.mit.edu	37	4	52938270	52938270	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:52938270C>A	uc003gzl.2	+	6	984	c.706C>A	c.(706-708)CTG>ATG	p.L236M	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.L204M|SPATA18_uc003gzk.1_Missense_Mutation_p.L236M	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	236	Potential.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCTCCGAAACCTGAAGGAGGA	0.483		NA											13	68					1.05e-09	1.08e-09	1	0
FIP1L1	81608	broad.mit.edu	37	4	54294260	54294260	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:54294260C>T	uc003gzy.2	+	13	1270	c.1084C>T	c.(1084-1086)CCA>TCA	p.P362S	PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.P347S|FIP1L1_uc011bzt.1_Missense_Mutation_p.P326S|FIP1L1_uc011bzu.1_Missense_Mutation_p.P347S|FIP1L1_uc003gzz.2_Missense_Mutation_p.P288S|FIP1L1_uc003hab.2_Missense_Mutation_p.P327S|FIP1L1_uc003hac.2_Missense_Mutation_p.P107S|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	362	Pro-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTTTCCCTCCAGGAGctcc	0.333		NA	T	PDGFRA	idiopathic hypereosinophilic syndrome								4	44					0	0	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181222	57181223	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57181222_57181223GG>AA	uc003hbk.2	+	8	1945_1946	c.1554_1555GG>AA	c.(1552-1557)AAGGTG>AAAATG	p.V519M	KIAA1211_uc010iha.2_Missense_Mutation_p.V512M|KIAA1211_uc011bzz.1_Missense_Mutation_p.V429M|KIAA1211_uc003hbm.1_Missense_Mutation_p.V405M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	519	Glu-rich.									ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCGCAAGGTGGAGGAGCT	0.639		NA											5	27					0	0	0	0
ARL9	132946	broad.mit.edu	37	4	57389990	57389990	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57389990C>T	uc003hby.1	+	4	768	c.320C>T	c.(319-321)ACC>ATC	p.T107I		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	171							GTP binding				0	Glioma(25;0.08)|all_neural(26;0.101)					ATACCCTCCACCATGCAAGAT	0.488		NA											8	50					0	0	0	0
C4orf14	84273	broad.mit.edu	37	4	57842906	57842906	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:57842906G>A	uc003hck.2	-	1	921	c.846C>T	c.(844-846)GGC>GGT	p.G282G	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	282							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					GCCCTTGGTGGCCAGGGGCCA	0.697		NA											5	38					0	0	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682215	69682215	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682215G>C	uc003hee.2	+	1	503	c.478G>C	c.(478-480)GCT>CCT	p.A160P	UGT2B10_uc011cam.1_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TGAGCTGCTGGCTGAGCTATT	0.393		NA											47	112					0	0	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682395	69682395	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69682395G>T	uc003hee.2	+	1	683	c.658G>T	c.(658-660)GAC>TAC	p.D220Y	UGT2B10_uc011cam.1_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	220					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						GCTTTATTTTGACTTTTGGTT	0.308		NA											14	65					1.05e-09	1.08e-09	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962535	69962535	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:69962535C>T	uc003heg.3	+	1	343	c.297C>T	c.(295-297)GAC>GAT	p.D99D	UGT2B7_uc010ihq.2_Silent_p.D99D	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	99					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						GATGGTCAGACCTTCCAAAAG	0.323		NA											21	59					0	0	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462099	70462099	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70462099C>T	uc003hem.3	-	3	928	c.865G>A	c.(865-867)GAA>AAA	p.E289K	UGT2A1_uc011caq.1_Intron|UGT2A1_uc010ihu.2_Intron|UGT2A1_uc010iht.2_Intron|UGT2A1_uc010ihs.2_Missense_Mutation_p.E290K	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	289	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TCTTCCATTTCCTGCATACAT	0.308		NA											9	54					0	0	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810588	70810588	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:70810588A>G	uc003hep.1	+	15	472	c.423A>G	c.(421-423)CAA>CAG	p.Q141Q	CSN1S1_uc003heq.1_Silent_p.Q132Q|CSN1S1_uc003her.1_Silent_p.Q133Q	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	141						extracellular region	protein binding|transporter activity				0						AGCTCAACCAACTTGCTGCCT	0.423		NA											123	249					0	0	0	0
C4orf40	401137	broad.mit.edu	37	4	71020140	71020140	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71020140G>A	uc003hfa.3	+	2	121	c.48G>A	c.(46-48)AGG>AGA	p.R16R	C4orf40_uc003hfb.3_Silent_p.R16R	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	hypothetical protein LOC401137 precursor	16						extracellular region					0						CTTTTGCAAGGAAGGTAAGTA	0.303		NA											7	35					0	0	0	0
ODAM	54959	broad.mit.edu	37	4	71068544	71068544	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71068544C>T	uc003hfc.2	+	9	737	c.720C>T	c.(718-720)TTC>TTT	p.F240F		NM_017855	NP_060325	A1E959	ODAM_HUMAN	odontogenic ameloblast-associated protein	240					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				ovary(3)|large_intestine(1)	4						CAGGAGTTTTCATGCCCTCAA	0.408		NA											13	34					0	0	0	0
MUC7	4589	broad.mit.edu	37	4	71347144	71347144	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:71347144C>T	uc011cat.1	+	4	971	c.683C>T	c.(682-684)TCC>TTC	p.S228F	MUC7_uc011cau.1_Missense_Mutation_p.S228F|MUC7_uc003hfj.2_Missense_Mutation_p.S228F|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	228	3.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.582		NA											29	103					0	0	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397869	72397869	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72397869C>T	uc003hfy.2	+	17	2374	c.2257C>T	c.(2257-2259)CTA>TTA	p.L753L	SLC4A4_uc010iic.2_Silent_p.L753L|SLC4A4_uc010iib.2_Silent_p.L753L|SLC4A4_uc003hfz.2_Silent_p.L753L|SLC4A4_uc003hgc.3_Silent_p.L709L|SLC4A4_uc010iid.2_5'UTR	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	753	Interaction with CA4.|Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACCCCAAAACTAATTGTGCC	0.383		NA											7	47					0	0	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425848	72425848	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:72425848C>T	uc003hfy.2	+	23	3093	c.2976C>T	c.(2974-2976)TAC>TAT	p.Y992Y	SLC4A4_uc010iic.2_Silent_p.Y992Y|SLC4A4_uc010iib.2_Silent_p.Y908Y|SLC4A4_uc003hfz.2_Silent_p.Y992Y|SLC4A4_uc003hgc.3_Silent_p.Y948Y|SLC4A4_uc010iid.2_Silent_p.Y196Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	992	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCATGGACTACCTCTTCTCCC	0.343		NA											29	106					0	0	0	0
ALB	213	broad.mit.edu	37	4	74279194	74279194	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:74279194G>A	uc003hgs.3	+	8	974	c.901G>A	c.(901-903)GAA>AAA	p.E301K	ALB_uc003hgw.3_Missense_Mutation_p.E109K|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.E301K|ALB_uc010iii.2_Missense_Mutation_p.E186K|ALB_uc003hgu.3_Missense_Mutation_p.E151K|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Missense_Mutation_p.E191K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	301	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TAAACTGAAGGAATGCTGTGA	0.408		NA											19	54					0	0	0	0
BTC	685	broad.mit.edu	37	4	75673329	75673329	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:75673329C>T	uc003hig.2	-	5	806	c.459G>A	c.(457-459)AAG>AAA	p.K153K		NM_001729	NP_001720	P35070	BTC_HUMAN	betacellulin precursor	153	Cytoplasmic (Potential).|Arg/Lys-rich (basic).				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|skin(1)	2			Lung(101;0.219)			CTTCTTCTTTCTTCTTTCTTT	0.353		NA											15	59					0	0	0	0
C4orf26	152816	broad.mit.edu	37	4	76489445	76489445	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:76489445C>T	uc003hip.1	+	2	224	c.189C>T	c.(187-189)CCC>CCT	p.P63P	C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.P78L	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	hypothetical protein LOC152816 precursor	63						extracellular region					0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGCCCAGCCCATCACAAAGA	0.527		NA											18	69					0	0	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631416	77631416	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77631416G>A	uc011cbx.1	+	3	1384	c.431G>A	c.(430-432)GGG>GAG	p.G144E	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	144					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TGGTCAGGAGGGGTTAAACTT	0.567		NA											7	43					0	0	0	0
ANKRD56	345079	broad.mit.edu	37	4	77817038	77817038	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:77817038C>G	uc003hki.2	-	1	1965	c.1965G>C	c.(1963-1965)AAG>AAC	p.K655N		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	655	ANK 1.										0						TCCCTGCCTTCTTTGCTCCAG	0.532		NA											23	110					0	0	0	0
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:81188003C>T	uc003hmd.2	+	1	262	c.25C>T	c.(25-27)CTC>TTC	p.L9F	FGF5_uc003hme.2_Missense_Mutation_p.L9F	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						CCTCCTCCTCCTCTTCTTCAG	0.627		NA											3	68					0	0	0	0
MAPK10	5602	broad.mit.edu	37	4	86988967	86988967	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:86988967T>G	uc003hpq.2	-	9	1011	c.944A>C	c.(943-945)GAT>GCT	p.D315A	MAPK10_uc010ikg.2_Missense_Mutation_p.D277A|MAPK10_uc003hpr.2_Missense_Mutation_p.D277A|MAPK10_uc003hps.2_Missense_Mutation_p.D315A|MAPK10_uc003hpt.2_Missense_Mutation_p.D315A|MAPK10_uc003hpu.2_Missense_Mutation_p.D315A|MAPK10_uc003hpv.2_Missense_Mutation_p.D170A|MAPK10_uc003hpn.2_Missense_Mutation_p.D63A|MAPK10_uc003hpo.2_Missense_Mutation_p.D170A|MAPK10_uc011ccw.1_Missense_Mutation_p.D201A|MAPK10_uc003hpp.2_Missense_Mutation_p.D170A	NM_138982	NP_620448	P53779	MK10_HUMAN	mitogen-activated protein kinase 10 isoform 2	315	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGAGGGAATCTGGGAAGAG	0.493		NA											21	32					0	0	0	0
AFF1	4299	broad.mit.edu	37	4	88047294	88047294	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88047294C>T	uc003hqj.3	+	13	3003	c.2596C>T	c.(2596-2598)CCC>TCC	p.P866S	AFF1_uc011ccz.1_Missense_Mutation_p.P873S|AFF1_uc003hqk.3_Missense_Mutation_p.P866S|AFF1_uc011cda.1_Missense_Mutation_p.P504S	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	866	Poly-Pro.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAATGCTCCCCCCGCCACC	0.577		NA											15	60					0	0	0	0
SPARCL1	8404	broad.mit.edu	37	4	88394947	88394947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88394947C>T	uc010ikm.2	-	12	2547	c.1975G>A	c.(1975-1977)GAT>AAT	p.D659N	SPARCL1_uc011cdc.1_Missense_Mutation_p.D534N|SPARCL1_uc003hqs.3_Missense_Mutation_p.D659N|SPARCL1_uc011cdd.1_Missense_Mutation_p.D534N	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	659					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGATTTTCATCTATGTCCTCT	0.348		NA											29	114					0	0	0	0
IBSP	3381	broad.mit.edu	37	4	88732536	88732536	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:88732536C>T	uc003hqx.3	+	7	526	c.428C>T	c.(427-429)GCT>GTT	p.A143V		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	143	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAATAAAGCTACAAAAGAG	0.264		NA											8	19					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96091343	96091343	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96091343A>T	uc003htp.1	-	15	2746	c.2592T>A	c.(2590-2592)CAT>CAA	p.H864Q	uc003hto.2_5'Flank	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	864	Cytoplasmic (Potential).|Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCAGTCATGGCCTCTCG	0.587		NA											55	120					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96106245	96106245	+	Missense_Mutation	SNP	C	C	T	rs139502011	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:96106245C>T	uc003htp.1	-	13	2393	c.2239G>A	c.(2239-2241)GAT>AAT	p.D747N	UNC5C_uc010ilc.1_Missense_Mutation_p.D766N	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	747	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCGATATCGTGAATTGAC	0.463		NA											21	93					0	0	0	0
LRIT3	345193	broad.mit.edu	37	4	110788925	110788925	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110788925G>A	uc003hzx.3	+	2	776	c.583G>A	c.(583-585)GGA>AGA	p.G195R	LRIT3_uc003hzw.3_Missense_Mutation_p.G57R	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	195	LRRCT.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458		NA											33	59					0	0	0	0
EGF	1950	broad.mit.edu	37	4	110884392	110884393	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:110884392_110884393GG>AA	uc003hzy.3	+	9	1828_1829	c.1376_1377GG>AA	c.(1375-1377)TGG>TAA	p.W459*	EGF_uc011cfu.1_Nonsense_Mutation_p.W417*|EGF_uc011cfv.1_Nonsense_Mutation_p.W459*	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	459	EGF-like 4.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCAGTATCCTGGGAATGTGATT	0.455		NA											25	113					0	0	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590149	125590150	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:125590149_125590150GG>AA	uc003ifg.3	-	3	4548_4549	c.4282_4283CC>TT	c.(4282-4284)CCA>TTA	p.P1428L	ANKRD50_uc011cgo.1_Missense_Mutation_p.P1249L|ANKRD50_uc010inw.2_Missense_Mutation_p.P1428L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1428										central_nervous_system(1)	1						CTTTTATAATGGTGTTTCCTTT	0.267		NA											15	33					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126241562	126241562	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126241562A>G	uc003ifj.3	+	1	3996	c.3996A>G	c.(3994-3996)GAA>GAG	p.E1332E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1332	Cadherin 13.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAATTGGTGAACTCGTGTCCT	0.348		NA											14	98					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126411359	126411360	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:126411359_126411360CC>TT	uc003ifj.3	+	17	13382_13383	c.13382_13383CC>TT	c.(13381-13383)ACC>ATT	p.T4461I	FAT4_uc011cgp.1_Missense_Mutation_p.T2702I|FAT4_uc003ifi.1_Missense_Mutation_p.T1938I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4461	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACGGGAAGGACCTGTGAGATGG	0.634		NA											17	57					0	0	0	0
PHF17	79960	broad.mit.edu	37	4	129778492	129778492	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:129778492G>A	uc003igk.2	+	8	1145	c.865_splice	c.e8-1	p.V289_splice	PHF17_uc003igj.2_Splice_Site_p.V289_splice|PHF17_uc003igl.2_Splice_Site_p.V277_splice|PHF17_uc011cgy.1_Splice_Site_p.V289_splice|PHF17_uc003igm.2_Splice_Site_p.V289_splice	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform						apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CCGACCTTTAGGTGAGCATTG	0.507		NA											50	92					0	0	0	0
HHIP	64399	broad.mit.edu	37	4	145580019	145580019	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:145580019C>T	uc003ijs.1	+	3	1205	c.550C>T	c.(550-552)CCA>TCA	p.P184S	HHIP_uc003ijr.1_Missense_Mutation_p.P184S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	184						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCCAGATTTTCCAAGAAAACA	0.373		NA											28	85					0	0	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504695	151504695	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:151504695C>T	uc003ilw.2	+	1	1619	c.514C>T	c.(514-516)CCG>TCG	p.P172S	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	172					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCAAATCACTCCGGCGTTCAA	0.637		NA											10	46					0	0	0	0
RNF175	285533	broad.mit.edu	37	4	154641439	154641439	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:154641439G>A	uc003int.2	-	6	900	c.527C>T	c.(526-528)TCC>TTC	p.S176F	RNF175_uc003inu.1_Missense_Mutation_p.S48F	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	176						integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				AAAATCCATGGAATCTCTAGC	0.398		NA											16	62					0	0	0	0
DCHS2	54798	broad.mit.edu	37	4	155157613	155157613	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155157613C>T	uc003inw.2	-	25	6826	c.6826G>A	c.(6826-6828)GAA>AAA	p.E2276K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2276	Cadherin 20.				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)		GTCATTTTTTCATAATCCAGA	0.343		NA											15	76					0	0	0	0
FGG	2266	broad.mit.edu	37	4	155533728	155533728	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:155533728G>A	uc003ioj.2	-	1	175	c.34C>T	c.(34-36)CTC>TTC	p.L12F	FGG_uc003iog.2_Missense_Mutation_p.L12F|FGG_uc003ioh.2_Missense_Mutation_p.L12F|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.L12F	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	12					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGAAGTAGAGAATTAAATTC	0.438		NA											12	65					0	0	0	0
ADAM29	11086	broad.mit.edu	37	4	175898866	175898866	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:175898866C>T	uc003iuc.2	+	5	2860	c.2190C>T	c.(2188-2190)CCC>CCT	p.P730P	ADAM29_uc003iud.2_Silent_p.P730P|ADAM29_uc010irr.2_Silent_p.P730P|ADAM29_uc011cki.1_Silent_p.P730P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	730	Cytoplasmic (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTTACCTCCCCAGAGTCAAC	0.463		NA											20	88					0	0	0	0
WDR17	116966	broad.mit.edu	37	4	177041154	177041154	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177041154C>T	uc003iuj.2	+	5	672	c.516C>T	c.(514-516)TTC>TTT	p.F172F	WDR17_uc003iuk.2_Silent_p.F148F|WDR17_uc003ium.3_Silent_p.F148F|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	172	WD 3.									ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCATAGCTTCTTGTCTGATA	0.423		NA											29	125					0	0	0	0
WDR17	116966	broad.mit.edu	37	4	177077242	177077242	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:177077242C>T	uc003iuj.2	+	19	2701	c.2545C>T	c.(2545-2547)CTG>TTG	p.L849L	WDR17_uc003iuk.2_Silent_p.L825L|WDR17_uc003ium.3_Silent_p.L825L|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.L68L	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	849										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGACAAAGCCCTGTCAATTGC	0.373		NA											27	108					0	0	0	0
ODZ3	55714	broad.mit.edu	37	4	183659600	183659600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:183659600G>A	uc003ivd.1	+	17	3319	c.3282G>A	c.(3280-3282)TGG>TGA	p.W1094*	ODZ3_uc003ive.1_Nonsense_Mutation_p.W500*	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1094	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGACTCTGTGGGAAAAGAGGA	0.468		NA											46	193					0	0	0	0
CCDC111	201973	broad.mit.edu	37	4	185578379	185578379	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:185578379A>G	uc003iwk.2	+	3	518	c.85A>G	c.(85-87)AGA>GGA	p.R29G	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.R29G|CCDC111_uc003iwl.2_Missense_Mutation_p.R29G|CCDC111_uc003iwm.2_Intron|CCDC111_uc003iwn.2_Translation_Start_Site	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	29					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CTCAGTGTATAGACCAAGATT	0.393		NA											3	61					0	0	0	0
SORBS2	8470	broad.mit.edu	37	4	186536271	186536271	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr4:186536271C>T	uc003iyl.2	-	16	3540	c.2682G>A	c.(2680-2682)AGG>AGA	p.R894R	SORBS2_uc003iyh.2_Silent_p.R618R|SORBS2_uc011ckw.1_Silent_p.R455R|SORBS2_uc003iyi.2_Silent_p.R525R|SORBS2_uc011ckx.1_Silent_p.R460R|SORBS2_uc003iyk.2_Silent_p.R438R|SORBS2_uc003iym.2_Silent_p.R994R|SORBS2_uc003iyn.1_Silent_p.R485R|SORBS2_uc011cku.1_Silent_p.R286R|SORBS2_uc011ckv.1_Silent_p.R798R|SORBS2_uc003iyd.2_Silent_p.R593R|SORBS2_uc003iye.2_Silent_p.R467R|SORBS2_uc003iya.2_Silent_p.R414R|SORBS2_uc003iyb.2_Silent_p.R367R|SORBS2_uc003iyc.2_Silent_p.R347R|SORBS2_uc003iyg.2_Silent_p.R1008R|SORBS2_uc003iyf.2_Silent_p.R430R|SORBS2_uc003iyo.1_Silent_p.R343R	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	894	SH3 1.					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)		GATCAATTTTCCTGAGGATGT	0.438		NA											20	82					0	0	0	0
SDHA	6389	broad.mit.edu	37	5	251133	251133	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:251133C>T	uc003jao.3	+	12	1693	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F	SDHA_uc011clv.1_Silent_p.F526F|SDHA_uc011clw.1_Silent_p.F478F|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Silent_p.F301F|SDHA_uc003jar.3_Silent_p.F120F	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	526					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)	CTGCCGTGTTCCGTGTGGGAA	0.448		NA							Familial_Paragangliomas				15	81					0	0	0	0
AHRR	57491	broad.mit.edu	37	5	376767	376767	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:376767C>T	uc003jav.2	+	4	343	c.299C>T	c.(298-300)CCC>CTC	p.P100L	AHRR_uc003jaw.2_Missense_Mutation_p.P96L|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.P96L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGGCGCCCCCTCGCCCGGA	0.627		NA											6	19					0	0	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240774	1240774	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:1240774G>A	uc003jby.1	+	7	1097	c.974G>A	c.(973-975)AGA>AAA	p.R325K		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	325	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCTGGACAGGTGAGCACAG	0.622		NA											9	29					0	0	0	0
SEMA5A	9037	broad.mit.edu	37	5	9224870	9224870	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:9224870G>A	uc003jek.2	-	8	1274	c.562C>T	c.(562-564)CCA>TCA	p.P188S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	188	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCACGTCCTGGAAAATCCATG	0.562		NA											9	33					0	0	0	0
CTNND2	1501	broad.mit.edu	37	5	11159760	11159760	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:11159760G>A	uc003jfa.1	-	12	2232	c.2087C>T	c.(2086-2088)TCG>TTG	p.S696L	CTNND2_uc010itt.2_Missense_Mutation_p.S605L|CTNND2_uc011cmy.1_Missense_Mutation_p.S359L|CTNND2_uc011cmz.1_Missense_Mutation_p.S263L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S263L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	696	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CTGAAGAGGCGAATTTTCCCA	0.537		NA											24	87					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13717484	13717484	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13717484C>T	uc003jfd.2	-	73	12687	c.12645G>A	c.(12643-12645)GCG>GCA	p.A4215A	DNAH5_uc003jfc.2_Silent_p.A383A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6 (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)					CATTAAAGTCCGCTTGGTTAA	0.537		NA							Kartagener_syndrome				4	28					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13719151	13719151	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13719151C>T	uc003jfd.2	-	72	12381	c.12339G>A	c.(12337-12339)ATG>ATA	p.M4113I	DNAH5_uc003jfc.2_Missense_Mutation_p.M281I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4113	AAA 6 (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)					TGATTATGTCCATCAGCTCAT	0.453		NA							Kartagener_syndrome				15	55					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13766128	13766128	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:13766128G>A	uc003jfd.2	-	59	10100	c.10058C>T	c.(10057-10059)TCC>TTC	p.S3353F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3353	Stalk (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)					CAATTTTAAGGATTCCTGCCA	0.448		NA							Kartagener_syndrome				29	121					0	0	0	0
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:16668425G>A	uc003jft.3	-	40	6504	c.6036C>T	c.(6034-6036)ATC>ATT	p.I2012I	MYO10_uc011cnb.1_Silent_p.I641I|MYO10_uc011cnc.1_Silent_p.I891I|MYO10_uc011cnd.1_Silent_p.I1369I|MYO10_uc011cne.1_Silent_p.I1369I|MYO10_uc010itx.2_Silent_p.I1634I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CATCGACCACGATCTTATACG	0.478		NA											71	102					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23522980	23522980	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23522980G>A	uc003jgo.2	+	8	1050	c.868G>A	c.(868-870)GGA>AGA	p.G290R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	290	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGCCAACAATGGATACTCCTG	0.512		NA								HNSCC(3;0.000094)			15	67					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23526913	23526913	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:23526913G>A	uc003jgo.2	+	11	1898	c.1716G>A	c.(1714-1716)AGG>AGA	p.R572R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	572	C2H2-type 3.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TTCACCAGAGGATACACACAG	0.562		NA								HNSCC(3;0.000094)			63	89					0	0	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684050	33684050	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:33684050C>T	uc003jia.1	-	4	908	c.745G>A	c.(745-747)GAG>AAG	p.E249K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E249K	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	249	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						ACCAGTGTCTCCACCCATCTC	0.527		NA								HNSCC(64;0.19)			31	126					0	0	0	0
NIPBL	25836	broad.mit.edu	37	5	36986250	36986250	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:36986250G>A	uc003jkl.3	+	10	3467	c.2968G>A	c.(2968-2970)GGA>AGA	p.G990R	NIPBL_uc003jkk.3_Missense_Mutation_p.G990R|NIPBL_uc003jkm.1_Missense_Mutation_p.G869R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	990					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAAAAATAGGATTAGTTGA	0.353		NA											34	160					0	0	0	0
LIFR	3977	broad.mit.edu	37	5	38482070	38482070	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:38482070T>G	uc010ive.1	-	20	3253	c.2921A>C	c.(2920-2922)TAC>TCC	p.Y974S	LIFR_uc003jli.2_Missense_Mutation_p.Y974S	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	974	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					AACATCAATGTAAATAACCTG	0.473		NA	T	PLAG1	salivary adenoma								37	134					0	0	0	0
FYB	2533	broad.mit.edu	37	5	39202420	39202420	+	Missense_Mutation	SNP	G	G	A	rs138788331	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:39202420G>A	uc003jls.2	-	1	710	c.643C>T	c.(643-645)CCC>TCC	p.P215S	FYB_uc003jlt.2_Missense_Mutation_p.P215S|FYB_uc003jlu.2_Missense_Mutation_p.P215S|FYB_uc011cpl.1_Missense_Mutation_p.P225S	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	215					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTCATGGGGCTTTCGTCT	0.527		NA											18	95					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018504	41018504	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41018504T>C	uc003jmj.3	-	27	3192	c.2702A>G	c.(2701-2703)AAA>AGA	p.K901R	HEATR7B2_uc003jmi.3_Missense_Mutation_p.K456R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	901							binding			ovary(6)|central_nervous_system(2)	8						TTCCCACTCTTTTTGTGAAAC	0.353		NA											5	32					0	0	0	0
C6	729	broad.mit.edu	37	5	41158837	41158837	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41158837G>A	uc003jmk.2	-	13	2117	c.1907C>T	c.(1906-1908)CCT>CTT	p.P636L	C6_uc003jml.1_Missense_Mutation_p.P636L	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	636					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCTATCTCAGGAAGATCGAC	0.343		NA											19	35					0	0	0	0
C6	729	broad.mit.edu	37	5	41161795	41161795	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41161795C>A	uc003jmk.2	-	10	1668	c.1458G>T	c.(1456-1458)GAG>GAT	p.E486D	C6_uc003jml.1_Missense_Mutation_p.E486D	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	486	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTACTCTTACCTCAAAGTCAA	0.398		NA											23	39					1.64e-13	1.7e-13	1	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:41313799C>T	uc003jmm.1	-	3	988	c.886G>A	c.(886-888)GAT>AAT	p.D296N		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						TCTACAAAATCGGCAGTGACA	0.448		NA											20	31					0	0	0	0
GHR	2690	broad.mit.edu	37	5	42719110	42719110	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:42719110C>T	uc003jmt.2	+	10	1544	c.1501C>T	c.(1501-1503)CTT>TTT	p.L501F	GHR_uc011cpq.1_Missense_Mutation_p.L314F	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	501	Cytoplasmic (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TAGTGTGGTCCTTTCCCCGGG	0.488		NA											19	38					0	0	0	0
EMB	133418	broad.mit.edu	37	5	49707071	49707071	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:49707071G>A	uc003jom.2	-	3	592	c.343C>T	c.(343-345)CTT>TTT	p.L115F	EMB_uc003jol.2_Missense_Mutation_p.L46F|EMB_uc011cpy.1_Missense_Mutation_p.L65F|EMB_uc010ivr.2_Intron	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	115	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCACTGACAAGATAATTATTC	0.348		NA											20	60					0	0	0	0
DDX4	54514	broad.mit.edu	37	5	55056103	55056103	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55056103G>A	uc003jqg.3	+	4	277	c.203G>A	c.(202-204)AGA>AAA	p.R68K	DDX4_uc010ivz.2_Missense_Mutation_p.R68K|DDX4_uc003jqh.3_Missense_Mutation_p.R68K	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	68	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTGGAAACAGAGGTAAGCAT	0.373		NA											19	60					0	0	0	0
IL31RA	133396	broad.mit.edu	37	5	55195921	55195921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:55195921C>T	uc003jql.2	+	8	1095	c.1030C>T	c.(1030-1032)CCA>TCA	p.P344S	IL31RA_uc003jqk.2_Missense_Mutation_p.P344S|IL31RA_uc011cqj.1_Missense_Mutation_p.P202S|IL31RA_uc003jqm.2_Missense_Mutation_p.P312S|IL31RA_uc003jqn.2_Missense_Mutation_p.P344S|IL31RA_uc010iwa.1_Missense_Mutation_p.P312S|IL31RA_uc003jqo.2_Missense_Mutation_p.P202S	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	312	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGAAGTCTCCAGTGGCCAC	0.458		NA											35	166					0	0	0	0
CRHBP	1393	broad.mit.edu	37	5	76264687	76264687	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:76264687G>A	uc003ker.2	+	7	1226	c.946G>A	c.(946-948)GAA>AAA	p.E316K		NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	316					female pregnancy|learning or memory|signal transduction	soluble fraction					0		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CAGTATCGGGGAATTCTGTTT	0.433		NA											9	56					0	0	0	0
DMGDH	29958	broad.mit.edu	37	5	78325767	78325767	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78325767G>A	uc003kfs.2	-	11	1780	c.1774C>T	c.(1774-1776)CTT>TTT	p.L592F	DMGDH_uc011cte.1_Missense_Mutation_p.L442F|DMGDH_uc011ctf.1_Missense_Mutation_p.L391F|DMGDH_uc011ctg.1_Missense_Mutation_p.L212F	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	592					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTAATTAAAAGAAACTCCCCA	0.368		NA											11	29					0	0	0	0
DMGDH	29958	broad.mit.edu	37	5	78338147	78338147	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78338147G>A	uc003kfs.2	-	7	1158	c.1152C>T	c.(1150-1152)CCC>CCT	p.P384P	DMGDH_uc011cte.1_Silent_p.P234P|DMGDH_uc011ctf.1_Silent_p.P183P|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	384					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCCCCTGATGGGGCCCCACCA	0.418		NA											11	47					0	0	0	0
JMY	133746	broad.mit.edu	37	5	78587049	78587049	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78587049C>T	uc003kfx.3	+	4	1974	c.1454C>T	c.(1453-1455)TCT>TTT	p.S485F	JMY_uc003kfw.1_Missense_Mutation_p.S131F	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	485	Interaction with p300/EP300 (By similarity).				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TATGCAGTTTCTAAGGAAACT	0.403		NA											24	36					0	0	0	0
JMY	133746	broad.mit.edu	37	5	78610464	78610465	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:78610464_78610465CC>TT	uc003kfx.3	+	9	2969_2970	c.2449_2450CC>TT	c.(2449-2451)CCT>TTT	p.P817F	JMY_uc003kfw.1_Missense_Mutation_p.P463F	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	817	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		tcccccacctcctccccctccc	0.347		NA											11	27					0	0	0	0
THBS4	7060	broad.mit.edu	37	5	79351645	79351645	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:79351645T>A	uc003kgh.2	+	4	653	c.330T>A	c.(328-330)CAT>CAA	p.H110Q		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	110	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGAAGGTGCATTTGGTGGTTT	0.567		NA											44	193					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82837304	82837304	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:82837304C>T	uc003kii.3	+	8	8838	c.8482C>T	c.(8482-8484)CCC>TCC	p.P2828S	VCAN_uc003kij.3_Missense_Mutation_p.P1841S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1492S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2828	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCATCATCTCCCCTCACTAT	0.502		NA											9	66					0	0	0	0
POLR3G	10622	broad.mit.edu	37	5	89802421	89802421	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:89802421A>C	uc003kjq.2	+	7	715	c.515A>C	c.(514-516)AAA>ACA	p.K172T	POLR3G_uc011cuc.1_Missense_Mutation_p.K172T	NM_006467	NP_006458	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	172	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity				0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		gagaaaagtaaagaaggtgat	0.1		NA											10	42					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90106814	90106814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90106814G>A	uc003kju.2	+	74	15833	c.15737G>A	c.(15736-15738)CGA>CAA	p.R5246Q	GPR98_uc003kjt.2_Missense_Mutation_p.R2952Q|GPR98_uc003kjw.2_Missense_Mutation_p.R907Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5246	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCTTATCCGAAGAACTGGT	0.418		NA											12	68					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90107097	90107097	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:90107097G>A	uc003kju.2	+	74	16116	c.16020G>A	c.(16018-16020)CAG>CAA	p.Q5340Q	GPR98_uc003kjt.2_Silent_p.Q3046Q|GPR98_uc003kjw.2_Silent_p.Q1001Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5340	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGGAGCACAGATTGTGGAGG	0.388		NA											8	20					0	0	0	0
TTC37	9652	broad.mit.edu	37	5	94860296	94860296	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:94860296C>T	uc003klb.2	-	16	1596	c.1326_splice	c.e16-1	p.C442_splice	TTC37_uc010jbf.1_Splice_Site_p.C394_splice	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4						TCTCTGAAAACTAAGCCACCA	0.368		NA											8	38					0	0	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541182	111541182	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:111541182C>T	uc003kpv.1	-	14	1472	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	EPB41L4A_uc003kpp.1_Missense_Mutation_p.E27K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	400						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGGCTATTTTCATTCTTTGCT	0.308		NA											98	346					0	0	0	0
FTMT	94033	broad.mit.edu	37	5	121188057	121188057	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:121188057G>A	uc003kss.2	+	1	408	c.399G>A	c.(397-399)CAG>CAA	p.Q133Q		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	133	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAGGCTGCAGAACCAGCGAG	0.597		NA											14	57					0	0	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128957966	128957966	+	Silent	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:128957966A>C	uc003kvb.1	+	10	1677	c.1677A>C	c.(1675-1677)CCA>CCC	p.P559P	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	559	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGCTGCCAGGGATGACAT	0.468		NA											7	51					0	0	0	0
FSTL4	23105	broad.mit.edu	37	5	132535173	132535173	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:132535173C>T	uc003kyn.1	-	16	2361	c.2143G>A	c.(2143-2145)GAG>AAG	p.E715K	FSTL4_uc003kym.1_Missense_Mutation_p.E364K	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	715						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTGTGATCTCCTGCACGTGC	0.582		NA											8	58					0	0	0	0
SEC24A	10802	broad.mit.edu	37	5	134002527	134002527	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134002527C>T	uc003kzs.2	+	3	868	c.580C>T	c.(580-582)CCC>TCC	p.P194S	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	194	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGTACCTCCCTTAGTGAA	0.527		NA											17	93					0	0	0	0
PITX1	5307	broad.mit.edu	37	5	134364547	134364547	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:134364547G>A	uc010jea.2	-	3	1260	c.867C>T	c.(865-867)TCC>TCT	p.S289S	PITX1_uc011cxy.1_Silent_p.S289S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	289	Nuclear localization signal (Potential).|OAR.					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGTGCTGTTTGGACTTGAGCC	0.602		NA											7	24					0	0	0	0
KLHL3	26249	broad.mit.edu	37	5	137056259	137056259	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137056259G>A	uc010jek.2	-	2	473	c.29C>T	c.(28-30)TCC>TTC	p.S10F	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	10						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGAGTCTGGGAGCTCAGCTT	0.488		NA											12	51					0	0	0	0
WNT8A	7478	broad.mit.edu	37	5	137426723	137426723	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137426723C>T	uc003lcd.1	+	6	1022	c.1017C>T	c.(1015-1017)TCC>TCT	p.S339S	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Intron|WNT8A_uc011cyk.1_Silent_p.S357S	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	339					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCGCACGCTCCCCAGGCAGTG	0.517		NA											10	45					0	0	0	0
BRD8	10902	broad.mit.edu	37	5	137507796	137507796	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:137507796G>A	uc003lcf.1	-	3	199	c.144C>T	c.(142-144)CCC>CCT	p.P48P	BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Silent_p.P48P|BRD8_uc003lci.2_Silent_p.P48P|BRD8_uc003lch.2_5'UTR|BRD8_uc011cym.1_Silent_p.P32P|BRD8_uc010jer.1_Silent_p.P17P|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	48					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTCTGCAAAGGGCTTGATTG	0.458		NA											43	83					0	0	0	0
TMEM173	340061	broad.mit.edu	37	5	138858007	138858008	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:138858007_138858008GG>AA	uc003lep.2	-	6	857_858	c.606_607CC>TT	c.(604-609)CTCCCA>CTTTCA	p.P203S		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	203	Cytoplasmic (Potential).				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			upper_aerodigestive_tract(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTCCAATGGGAGGAGAATAT	0.554		NA											22	136					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:139905595C>T	uc003lfs.1	+	26	4631	c.4507C>T	c.(4507-4509)CCC>TCC	p.P1503S	ANKHD1_uc003lfr.2_Missense_Mutation_p.P1503S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P983S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P242S|ANKHD1_uc003lfw.2_Missense_Mutation_p.P141S|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1503						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358		NA											10	53					0	0	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167698	140167698	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140167698C>T	uc003lhb.2	+	1	1823	c.1823C>T	c.(1822-1824)TCC>TTC	p.S608F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.S608F	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	608	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTGTCCTATGAACTG	0.677		NA											35	46					0	0	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176833	140176833	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140176833G>A	uc003lhd.2	+	1	2390	c.2284G>A	c.(2284-2286)GAG>AAG	p.E762K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E762K|PCDHA2_uc011czy.1_Missense_Mutation_p.E762K	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	762	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTCTGGGGAGGACCCCCC	0.627		NA											7	55					0	0	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186879	140186880	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140186879_140186880CC>TT	uc003lhi.2	+	1	208_209	c.107_108CC>TT	c.(106-108)TCC>TTT	p.S36F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.S36F|PCDHA4_uc011daa.1_Missense_Mutation_p.S36F	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	36	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGGTCTCCGAGGAGGCCA	0.663		NA											16	77					0	0	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187186	140187186	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140187186G>A	uc003lhi.2	+	1	515	c.414G>A	c.(412-414)AAG>AAA	p.K138K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.K138K|PCDHA4_uc011daa.1_Silent_p.K138K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	138	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACACAAAAGAACCTGTCCA	0.572		NA											36	81					0	0	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207705	140207705	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140207705G>A	uc003lho.2	+	1	56	c.29G>A	c.(28-30)GGA>GAA	p.G10E	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_Missense_Mutation_p.G10E|PCDHA6_uc011dab.1_Missense_Mutation_p.G10E	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	10					homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGATTGGGAAAGCAATGT	0.512		NA											34	146					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215952	140215952	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140215952A>G	uc003lhq.2	+	1	1984	c.1984A>G	c.(1984-1986)ACA>GCA	p.T662A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.T662A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	662	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACAGCCACAGCCACCGT	0.657		NA											14	59					0	0	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236455	140236455	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140236455G>A	uc003lhx.2	+	1	822	c.822G>A	c.(820-822)AAG>AAA	p.K274K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.K274K|PCDHA10_uc011dad.1_Silent_p.K274K	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	274	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATAAACAAGGAAATGATGT	0.363		NA											17	32					0	0	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249753	140249753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140249753C>T	uc003lia.2	+	1	1923	c.1065C>T	c.(1063-1065)TCC>TCT	p.S355S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S355S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	355	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTTGTCCCTCCCAGTAC	0.572		NA											23	38					0	0	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256918	140256918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140256918C>T	uc003lic.2	+	1	1988	c.1861C>T	c.(1861-1863)CCG>TCG	p.P621S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.P621S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	621	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCACATCCCGTTCCACGT	0.672		NA											30	37					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263335	140263335	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263335G>A	uc003lif.2	+	1	1482	c.1482G>A	c.(1480-1482)CTG>CTA	p.L494L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L494L|PCDHA13_uc003lid.2_Silent_p.L494L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	494	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTACTCGCTGGTGGAGCGGC	0.662		NA											20	41					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263918	140263918	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140263918C>T	uc003lif.2	+	1	2065	c.2065C>T	c.(2065-2067)CCA>TCA	p.P689S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P689S|PCDHA13_uc003lid.2_Missense_Mutation_p.P689S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	689	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGGTCCAGAAGCGGC	0.637		NA											19	60					0	0	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306562	140306562	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140306562G>A	uc003lih.2	+	1	261	c.85G>A	c.(85-87)GAG>AAG	p.E29K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.E29K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	29	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCCGGAGGAGACGGAGCG	0.637		NA											6	28					0	0	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475886	140475886	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140475886C>T	uc003lil.2	+	1	1650	c.1512C>T	c.(1510-1512)TCC>TCT	p.S504S	PCDHB2_uc003lim.1_Silent_p.S165S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	504	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.687		NA											23	117					0	0	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558982	140558982	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140558982C>T	uc011dai.1	+	1	1553	c.1367C>T	c.(1366-1368)TCC>TTC	p.S456F	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	456	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.607		NA											53	434					0	0	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719238	140719238	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140719238G>A	uc003ljk.1	+	1	885	c.700G>A	c.(700-702)GAT>AAT	p.D234N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D234N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	234	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTCCTGGATGCGAACGA	0.597		NA											13	61					0	0	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723787	140723787	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140723787G>A	uc003ljm.1	+	1	187	c.187G>A	c.(187-189)GGA>AGA	p.G63R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G63R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	63	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.607		NA									OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	146					0	0	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729974	140729974	+	Silent	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140729974C>A	uc003ljo.1	+	1	147	c.147C>A	c.(145-147)GCC>GCA	p.A49A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.A49A	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	49	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTTGCCAAGGATCTGG	0.542		NA									OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0.00909568	0.00916588	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740533	140740533	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140740533C>T	uc003ljs.1	+	1	831	c.831C>T	c.(829-831)ATC>ATT	p.I277I	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_uc011dar.1_Silent_p.I277I	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	277	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGAGATCACCTACTCCT	0.468		NA											8	20					0	0	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755911	140755911	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140755911C>T	uc003ljy.1	+	1	2261	c.2261C>T	c.(2260-2262)TCC>TTC	p.S754F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S754F	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	754	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTATTCCCACGAGGTC	0.572		NA											11	69					0	0	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774687	140774687	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140774687C>T	uc003lkd.1	+	1	3205	c.2307C>T	c.(2305-2307)ATC>ATT	p.I769I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.I769I	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	769	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTTCCCCAGC	0.488		NA											15	74					0	0	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140779294	140779294	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140779294G>A	uc003lkf.1	+	1	1600	c.1600G>A	c.(1600-1602)GGC>AGC	p.G534S	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_uc011daw.1_Missense_Mutation_p.G534S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	534	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGACCAGGGCTCGCCTGC	0.677		NA											6	24					0	0	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783618	140783618	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140783618C>T	uc003lkh.1	+	1	1099	c.1099C>T	c.(1099-1101)CTT>TTT	p.L367F	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_uc011dax.1_Missense_Mutation_p.L367F	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATTCTTCTTTTCAA	0.413		NA											28	25					0	0	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795153	140795153	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140795153C>T	uc003lkl.1	+	1	2411	c.2411C>T	c.(2410-2412)CCT>CTT	p.P804L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P804L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	804	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAAGTTTCCTATAGAGGAT	0.393		NA											9	52					0	0	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811010	140811010	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140811010C>T	uc003lkt.1	+	1	853	c.684C>T	c.(682-684)ATC>ATT	p.I228I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.I228I	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	228	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGCATCCGCGTGATGG	0.667		NA											11	57					0	0	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953082	140953082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:140953082G>A	uc003llb.3	-	16	2476	c.2335C>T	c.(2335-2337)CTC>TTC	p.L779F	DIAPH1_uc003llc.3_Missense_Mutation_p.L770F|DIAPH1_uc010jgc.1_Missense_Mutation_p.L218F	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	779	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCGGAGCTGCACCTCT	0.398		NA											75	114					0	0	0	0
RBM27	54439	broad.mit.edu	37	5	145665539	145665539	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:145665539T>C	uc003lnz.3	+	21	3295	c.3129T>C	c.(3127-3129)CCT>CCC	p.P1043P		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1043					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTTTGCCTGATGATGACG	0.358		NA											3	74					0	0	0	0
FBXO38	81545	broad.mit.edu	37	5	147781995	147781995	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:147781995C>T	uc003lpf.1	+	5	631	c.511C>T	c.(511-513)CGT>TGT	p.R171C	FBXO38_uc003lpg.1_Missense_Mutation_p.R171C|FBXO38_uc003lph.2_Missense_Mutation_p.R171C	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	171						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCGTAATCGTAATGGAGC	0.358		NA											41	57					0	0	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712312	148712312	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:148712312G>A	uc003lqh.2	+	17	2161	c.2030G>A	c.(2029-2031)CGG>CAG	p.R677Q	AFAP1L1_uc010jgy.2_Missense_Mutation_p.R677Q|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R292Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677	Potential.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567		NA											32	47					0	0	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500535	149500535	+	Silent	SNP	G	G	A	rs143375423	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149500535G>A	uc003lro.2	-	18	2971	c.2502C>T	c.(2500-2502)ATC>ATT	p.I834I	PDGFRB_uc010jhd.2_Silent_p.I673I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	834	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCTTCACAGATGAGCACGT	0.562		NA	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								18	63					0	0	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514449	149514449	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149514449C>T	uc003lro.2	-	4	964	c.495G>A	c.(493-495)GGG>GGA	p.G165G	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.G165G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	165	Extracellular (Potential).|Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAACGTCCCCTTTCTTCT	0.507		NA	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								44	98					0	0	0	0
TCOF1	6949	broad.mit.edu	37	5	149755775	149755775	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149755775C>T	uc003lry.2	+	13	2132	c.2024C>T	c.(2023-2025)CCA>CTA	p.P675L	TCOF1_uc003lrw.2_Missense_Mutation_p.P675L|TCOF1_uc011dch.1_Missense_Mutation_p.P675L|TCOF1_uc003lrz.2_Missense_Mutation_p.P675L|TCOF1_uc003lrx.2_Missense_Mutation_p.P598L|TCOF1_uc003lsa.2_Missense_Mutation_p.P598L|TCOF1_uc011dci.1_Missense_Mutation_p.P164L	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	675					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGACTTCTCCAGCAGGCTCA	0.577		NA											43	173					0	0	0	0
TCOF1	6949	broad.mit.edu	37	5	149772279	149772279	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149772279C>T	uc003lry.2	+	22	3634	c.3526C>T	c.(3526-3528)CCC>TCC	p.P1176S	TCOF1_uc011dch.1_Missense_Mutation_p.P1139S|TCOF1_uc003lrz.2_Missense_Mutation_p.P1138S|TCOF1_uc003lrx.2_Missense_Mutation_p.P1100S|TCOF1_uc003lsa.2_Missense_Mutation_p.P1099S	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1176					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCCCACCCCCTCCAGGAC	0.637		NA											4	25					0	0	0	0
CD74	972	broad.mit.edu	37	5	149786873	149786873	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:149786873C>T	uc003lsc.2	-	2	151	c.140G>A	c.(139-141)GGA>GAA	p.G47E	CD74_uc003lsb.2_5'Flank|CD74_uc003lse.2_Missense_Mutation_p.G47E|CD74_uc003lsd.2_Missense_Mutation_p.G47E|CD74_uc003lsf.1_Missense_Mutation_p.G47E	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	47	Helical; Signal-anchor for type II membrane protein; (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACAGGGCTCCGCGGCTGCA	0.493		NA	T	ROS1	NSCLC								10	12					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150892006	150892006	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:150892006G>A	uc003lue.3	-	20	11638	c.11625C>T	c.(11623-11625)TCC>TCT	p.S3875S	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3875	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACCACAAGGGAGGTGTTGC	0.592		NA											40	66					0	0	0	0
GLRA1	2741	broad.mit.edu	37	5	151235901	151235901	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:151235901G>A	uc003lut.2	-	5	807	c.520C>T	c.(520-522)CCC>TCC	p.P174S	GLRA1_uc003lur.2_Missense_Mutation_p.P174S|GLRA1_uc003lus.2_Missense_Mutation_p.P91S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	174	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCCATGGGGAAATTCTTC	0.502		NA											8	49					0	0	0	0
GRIA1	2890	broad.mit.edu	37	5	153190723	153190723	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:153190723A>G	uc003lva.3	+	16	3024	c.2659A>G	c.(2659-2661)ATG>GTG	p.M887V	GRIA1_uc003luy.3_Missense_Mutation_p.M887V|GRIA1_uc003luz.3_Missense_Mutation_p.M792V|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M807V|GRIA1_uc011dcx.1_Missense_Mutation_p.M818V|GRIA1_uc011dcy.1_Missense_Mutation_p.M897V|GRIA1_uc011dcz.1_Missense_Mutation_p.M897V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	887	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCCAAGTCCATGCAATCGAT	0.622		NA											24	20					0	0	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:156533648G>A	uc003lwk.1	-	2	528	c.384C>T	c.(382-384)GTC>GTT	p.V128V	HAVCR2_uc003lwl.2_Silent_p.V128V	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	128	Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGTTTGATGACCAACTTCA	0.403		NA											17	47					0	0	0	0
SOX30	11063	broad.mit.edu	37	5	157065262	157065262	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:157065262G>A	uc003lxb.1	-	4	2198	c.1856C>T	c.(1855-1857)CCC>CTC	p.P619L	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.P314L	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	619	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGTCCGGGTAGGAAGTA	0.433		NA											15	30					0	0	0	0
ATP10B	23120	broad.mit.edu	37	5	160033861	160033861	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:160033861G>A	uc003lym.1	-	19	3918	c.3071C>T	c.(3070-3072)TCC>TTC	p.S1024F	ATP10B_uc010jit.1_Missense_Mutation_p.S341F	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1024	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGGACGGACCGACAATA	0.507		NA											11	86					0	0	0	0
GABRA6	2559	broad.mit.edu	37	5	161113294	161113294	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:161113294A>C	uc003lyu.2	+	2	435	c.97A>C	c.(97-99)AGT>CGT	p.S33R		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	33	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAAACGTCAGTCGGATCCT	0.483		NA								TCGA Ovarian(5;0.080)			19	64					0	0	0	0
WWC1	23286	broad.mit.edu	37	5	167812284	167812284	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:167812284C>T	uc003lzu.2	+	3	391	c.298C>T	c.(298-300)CTG>TTG	p.L100L	WWC1_uc003lzv.2_Silent_p.L100L|WWC1_uc011den.1_Silent_p.L100L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	100					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAAGGATTACCTGGTGGTGGC	0.552		NA											10	55					0	0	0	0
FAF2	23197	broad.mit.edu	37	5	175933836	175933836	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:175933836C>T	uc003mej.3	+	11	1276	c.1223C>T	c.(1222-1224)CCC>CTC	p.P408L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	408	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						GCCAATTTTCCCAGGCGAGTG	0.502		NA											86	132					0	0	0	0
ZFP2	80108	broad.mit.edu	37	5	178359013	178359013	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178359013G>A	uc003mjn.1	+	5	1208	c.699G>A	c.(697-699)CAG>CAA	p.Q233Q	ZFP2_uc010jky.2_Silent_p.Q233Q|ZFP2_uc010jkx.1_Silent_p.Q233Q	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	233	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CAGTTCATCAGAGAACTCATA	0.378		NA											14	60					0	0	0	0
GRM6	2916	broad.mit.edu	37	5	178413884	178413884	+	Silent	SNP	G	G	A	rs149519053	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:178413884G>A	uc003mjr.2	-	7	1634	c.1455C>T	c.(1453-1455)GGC>GGT	p.G485G	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.G68G|GRM6_uc003mjs.1_Silent_p.G105G	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	485	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane		p.G485G(1)		lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		CCTGGTACCCGCCACTGCTGG	0.647		NA											3	28					0	0	0	0
OR2V2	285659	broad.mit.edu	37	5	180582348	180582348	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr5:180582348C>T	uc011dhj.1	+	1	406	c.406C>T	c.(406-408)CTC>TTC	p.L136F		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATCCCATCCTCATGAATCA	0.512		NA											41	64					0	0	0	0
FAM136B	387071	broad.mit.edu	37	6	3046027	3046027	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:3046027G>A	uc011dhr.1	+	1	410	c.410G>A	c.(409-411)GGG>GAG	p.G137E		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTATCCATTGGGAAATAAAAG	0.403		NA											14	19					0	0	0	0
LY86	9450	broad.mit.edu	37	6	6589096	6589096	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:6589096G>A	uc003mwy.1	+	1	163	c.129G>A	c.(127-129)CAG>CAA	p.Q43Q	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	43					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582		NA											15	50					0	0	0	0
PHACTR1	221692	broad.mit.edu	37	6	12719057	12719057	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:12719057C>T	uc010jpc.2	+	3	413	c.81C>T	c.(79-81)TTC>TTT	p.F27F	PHACTR1_uc011dir.1_Silent_p.F27F|PHACTR1_uc003nag.1_Silent_p.F27F|PHACTR1_uc003nah.1_Silent_p.F27F|PHACTR1_uc003nai.2_Silent_p.F27F	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	27						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCAAAGATTCTTCTACAGTC	0.383		NA											4	5					0	0	0	0
NUP153	9972	broad.mit.edu	37	6	17675207	17675207	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:17675207G>A	uc003ncd.1	-	5	981	c.781C>T	c.(781-783)CCT>TCT	p.P261S	NUP153_uc011dje.1_Missense_Mutation_p.P261S|NUP153_uc010jpl.1_Missense_Mutation_p.P261S	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	261					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTTTTCCAGGATAAAAAGGA	0.383		NA											35	50					0	0	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109910	20109910	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:20109910C>A	uc003ncx.1	-	12	1485	c.1280G>T	c.(1279-1281)TGG>TTG	p.W427L	MBOAT1_uc011dji.1_Missense_Mutation_p.W278L	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	427	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGTGACGGCCCAGGTGCCTGC	0.498		NA											26	98					1.64e-13	1.7e-13	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596343	24596343	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24596343G>A	uc011djo.1	-	3	796	c.559C>T	c.(559-561)CTA>TTA	p.L187L	KIAA0319_uc011djp.1_Silent_p.L142L|KIAA0319_uc003neh.1_Silent_p.L187L|KIAA0319_uc011djq.1_Silent_p.L178L|KIAA0319_uc011djr.1_Silent_p.L187L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	187	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CCCGGCAGTAGGCCCCAGTCC	0.617		NA											7	28					0	0	0	0
GMNN	51053	broad.mit.edu	37	6	24781768	24781768	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24781768C>T	uc003nem.2	+	4	400	c.193C>T	c.(193-195)CCT>TCT	p.P65S	GMNN_uc003nen.2_Missense_Mutation_p.P65S	NM_015895	NP_056979	O75496	GEMI_HUMAN	geminin	65					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			ovary(1)	1						AACTTCCAGCCCTGGGGTTAT	0.373		NA											10	42					0	0	0	0
FAM65B	9750	broad.mit.edu	37	6	24843658	24843659	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:24843658_24843659GG>AA	uc003neo.1	-	14	1527_1528	c.1351_1352CC>TT	c.(1351-1353)CCT>TTT	p.P451F	FAM65B_uc011djs.1_Missense_Mutation_p.P430F|FAM65B_uc011dju.1_Missense_Mutation_p.P435F|FAM65B_uc003nep.2_Missense_Mutation_p.P401F|FAM65B_uc011djt.1_Missense_Mutation_p.P401F	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	451					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						TGAGTTGGAAGGGGAGCCTGTT	0.55		NA											10	53					0	0	0	0
LRRC16A	55604	broad.mit.edu	37	6	25551232	25551233	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25551232_25551233CC>TT	uc011djw.1	+	27	2799_2800	c.2423_2424CC>TT	c.(2422-2424)ACC>ATT	p.T808I	LRRC16A_uc010jpx.2_Missense_Mutation_p.T808I|LRRC16A_uc010jpy.2_Missense_Mutation_p.T808I|LRRC16A_uc003nfa.1_Missense_Mutation_p.T162I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	808					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CATGCCAGCACCGAAAAGATTT	0.391		NA											55	89					0	0	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850331	25850331	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:25850331G>A	uc003nfi.3	-	8	944	c.834C>T	c.(832-834)TTC>TTT	p.F278F	SLC17A3_uc003nfk.3_Silent_p.F356F|SLC17A3_uc011djz.1_3'UTR	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	278					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						TGGTTAGAAGGAAATCTGCCA	0.398		NA											11	53					0	0	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017611	26017611	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26017611A>G	uc003nfo.2	-	1	430	c.350T>C	c.(349-351)GTG>GCG	p.V117A		NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	117					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						CTTGGTTTCCACGGAGGACGC	0.542		NA											16	90					0	0	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045858	26045858	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26045858G>A	uc003nfv.2	+	1	220	c.220G>A	c.(220-222)GAA>AAA	p.E74K	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CCTGGTGCGAGAAATCGCCCA	0.627		NA											23	30					0	0	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197348	26197348	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:26197348G>A	uc003ngv.2	-	2	528	c.131C>T	c.(130-132)CCC>CTC	p.P44L	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				CACCGTGCCGGGCCGGTAACG	0.657		NA											5	59					0	0	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860564	27860564	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:27860564C>T	uc003nkb.1	-	1	400	c.364G>A	c.(364-366)GAG>AAG	p.E122K	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	122					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TGGTGGCTCTCAGTCTTCTTG	0.498		NA											23	90					0	0	0	0
SCAND3	114821	broad.mit.edu	37	6	28543596	28543596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:28543596C>T	uc003nlo.2	-	3	1504	c.886G>A	c.(886-888)GAT>AAT	p.D296N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	296					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGTATTTTATCTGTTTCCCCA	0.408		NA											27	150					0	0	0	0
MAS1L	116511	broad.mit.edu	37	6	29454573	29454574	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29454573_29454574GG>AA	uc011dlq.1	-	1	1106_1107	c.1106_1107CC>TT	c.(1105-1107)CCC>CTT	p.P369L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	369	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						TGTGCTCCCTGGGAAGAAGGTT	0.515		NA											20	81					0	0	0	0
OR2H2	7932	broad.mit.edu	37	6	29556101	29556102	+	Missense_Mutation	DNP	CC	CC	TT	rs137936888		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:29556101_29556102CC>TT	uc003nmr.1	+	1	419_420	c.380_381CC>TT	c.(379-381)CCC>CTT	p.P127L	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	127	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTCTGCCAGCCCCTCCACTATG	0.579		NA											12	82					0	0	0	0
ABCF1	23	broad.mit.edu	37	6	30554047	30554047	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30554047C>T	uc003nql.2	+	18	1945	c.1850C>T	c.(1849-1851)CCC>CTC	p.P617L	ABCF1_uc003nqm.2_Missense_Mutation_p.P579L|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	617					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						TTTCCAGACCCCCCACCACTC	0.582		NA											10	50					0	0	0	0
DHX16	8449	broad.mit.edu	37	6	30627339	30627339	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30627339G>A	uc003nqz.2	-	12	2129	c.1917C>T	c.(1915-1917)ATC>ATT	p.I639I	DHX16_uc003nqy.2_Silent_p.I158I|DHX16_uc011dmo.1_Silent_p.I579I	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	639	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						GGAGCTCCCGGATTTTGGAGC	0.612		NA											8	14					0	0	0	0
DDR1	780	broad.mit.edu	37	6	30862381	30862381	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:30862381C>T	uc003nrr.2	+	12	1705	c.1446C>T	c.(1444-1446)CCC>CCT	p.P482P	DDR1_uc010jse.2_Silent_p.P482P|DDR1_uc003nrq.2_Silent_p.P482P|DDR1_uc003nrs.2_Silent_p.P482P|DDR1_uc003nrt.2_Silent_p.P482P|DDR1_uc011dms.1_Silent_p.P500P|DDR1_uc003nru.2_Silent_p.P482P|DDR1_uc003nrv.2_Silent_p.P482P|DDR1_uc003nrw.1_Missense_Mutation_p.P254L|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_RNA|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	482	PPxY motif.|Cytoplasmic (Potential).|Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	GAGAGCCACCCCCGTACCAGG	0.622		NA											31	58					0	0	0	0
C6orf15	29113	broad.mit.edu	37	6	31079247	31079247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31079247G>A	uc003nsk.1	-	2	889	c.889C>T	c.(889-891)CCT>TCT	p.P297S		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	297	Pro-rich.										0						ACTCCAGGAGGAAATGGGTTA	0.522		NA											18	51					0	0	0	0
HLA-B	3106	broad.mit.edu	37	6	31324148	31324148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31324148G>A	uc003nth.2	-	3	469	c.415C>T	c.(415-417)CAG>TAG	p.Q139*	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.Q18*|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Nonsense_Mutation_p.Q111*	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	139	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TAGGCGTACTGGTCATGCCCG	0.701		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				4	8					0	0	0	0
NEU1	4758	broad.mit.edu	37	6	31829148	31829148	+	Silent	SNP	G	G	A	rs114405905	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31829148G>A	uc003nxq.3	-	3	588	c.432C>T	c.(430-432)AGC>AGT	p.S144S	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Silent_p.S144S	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	144						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCTCAACATCGCTCACTACTG	0.507		NA											11	38					0	0	0	0
EHMT2	10919	broad.mit.edu	37	6	31864272	31864272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31864272G>A	uc003nxz.1	-	4	360	c.350C>T	c.(349-351)CCC>CTC	p.P117L	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.P174L|EHMT2_uc003nya.1_Missense_Mutation_p.P117L|EHMT2_uc003nyb.1_Missense_Mutation_p.P117L|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	117					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGGGGAAGAGGGGAATGACTT	0.537		NA											23	101					0	0	0	0
CFB	629	broad.mit.edu	37	6	31919771	31919771	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:31919771G>A	uc003nyj.3	+	18	2537	c.2259G>A	c.(2257-2259)AAG>AAA	p.K753K	CFB_uc011dor.1_Silent_p.K1255K	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	753	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CCTGGCTGAAGGAGAAACTCC	0.502		NA											44	242					0	0	0	0
TNXB	7148	broad.mit.edu	37	6	32021380	32021380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32021380G>A	uc003nzl.2	-	25	8772	c.8570C>T	c.(8569-8571)TCC>TTC	p.S2857F		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2906	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CAGGCTGAGGGAGTCAGGGGT	0.652		NA											39	36					0	0	0	0
TNXB	7148	broad.mit.edu	37	6	32024532	32024532	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:32024532G>A	uc003nzl.2	-	23	8176	c.7974C>T	c.(7972-7974)TTC>TTT	p.F2658F		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2718	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACTGGACCAGGAAGTGGTCAA	0.647		NA											24	35					0	0	0	0
COL11A2	1302	broad.mit.edu	37	6	33156965	33156965	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33156965C>T	uc003ocx.1	-	3	461	c.233G>A	c.(232-234)GGA>GAA	p.G78E	COL11A2_uc003ocy.1_Missense_Mutation_p.G78E|COL11A2_uc003ocz.1_Missense_Mutation_p.G78E|COL11A2_uc003oda.2_Missense_Mutation_p.G78E	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	78	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGGAAATCCTCCTAGTAACCG	0.572		NA											5	18					0	0	0	0
VPS52	6293	broad.mit.edu	37	6	33232176	33232176	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33232176C>T	uc003odm.1	-	14	1709	c.1499G>A	c.(1498-1500)GGG>GAG	p.G500E	VPS52_uc003odn.1_Missense_Mutation_p.G311E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	500					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ATCCAACCCCCCTAGGCGCTG	0.562		NA											11	86					0	0	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283298	33283298	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283298C>A	uc003oeb.2	-	2	1548	c.1396G>T	c.(1396-1398)GTG>TTG	p.V466L	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.V466L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTACCCGGCACACCCAGGCTC	0.622		NA											31	173					1.63e-12	1.68e-12	1	0
ZBTB22	9278	broad.mit.edu	37	6	33283441	33283441	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33283441G>A	uc003oeb.2	-	2	1405	c.1253C>T	c.(1252-1254)CCC>CTC	p.P418L	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.P418L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATGTCCAAGGGAAGGAGCGG	0.617		NA											39	133					0	0	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284361	33284361	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33284361G>A	uc003oeb.2	-	2	485	c.333C>T	c.(331-333)TCC>TCT	p.S111S	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.S111S	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGTGTAAGCGGAGGCTAGGA	0.557		NA											29	84					0	0	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33391298C>T	uc011dri.1	+	2	307	c.112C>T	c.(112-114)CCG>TCG	p.P38S	SYNGAP1_uc003oeo.1_Missense_Mutation_p.P23S|SYNGAP1_uc010juy.2_Missense_Mutation_p.P23S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						CGTTCATTCCCCGTATGATCG	0.542		NA											38	177					0	0	0	0
ITPR3	3710	broad.mit.edu	37	6	33659606	33659606	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33659606G>A	uc011drk.1	+	54	7578	c.7359G>A	c.(7357-7359)CGG>CGA	p.R2453R	ITPR3_uc003oey.2_Silent_p.R540R	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2453	Extracellular (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GCACAGAGCGGGCCTGTGACA	0.612		NA											31	112					0	0	0	0
IP6K3	117283	broad.mit.edu	37	6	33693272	33693272	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:33693272C>T	uc010jvf.2	-	6	1247	c.711G>A	c.(709-711)AGG>AGA	p.R237R	IP6K3_uc003ofb.2_Silent_p.R237R	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	237					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						GCGCACACTTCCTCATGTGGC	0.637		NA											4	19					0	0	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497235	34497235	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:34497235G>A	uc003ojo.2	+	5	724	c.518G>A	c.(517-519)CGG>CAG	p.R173Q	PACSIN1_uc003ojp.2_Missense_Mutation_p.R173Q	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	173					endocytosis		protein kinase activity				0						GCCATGACACGGGAGATGAAC	0.537		NA											8	44					0	0	0	0
C6orf81	221481	broad.mit.edu	37	6	35706178	35706178	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:35706178G>A	uc003ola.2	+	3	435	c.408G>A	c.(406-408)ACG>ACA	p.T136T	LOC285847_uc010jvy.1_5'Flank|C6orf81_uc003olb.1_Silent_p.T109T	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	hypothetical protein LOC221481	109	ARM 1.						binding			ovary(1)	1						CTTGTACTACGGATGACATCG	0.522		NA											17	56					0	0	0	0
BRPF3	27154	broad.mit.edu	37	6	36181743	36181743	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36181743C>T	uc003olv.3	+	8	2793	c.2569C>T	c.(2569-2571)CCT>TCT	p.P857S	BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	857					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						CCCGGAGCCCCCTACTCTGAA	0.512		NA											24	77					0	0	0	0
PNPLA1	285848	broad.mit.edu	37	6	36275453	36275453	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36275453G>A	uc010jwf.2	+	8	1559	c.1559G>A	c.(1558-1560)AGA>AAA	p.R520K	PNPLA1_uc003olw.1_Missense_Mutation_p.R425K|PNPLA1_uc010jwe.1_Missense_Mutation_p.R434K	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	520					lipid catabolic process		hydrolase activity			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						GGCTTCCCAAGACATTCGGGA	0.473		NA											10	54					0	0	0	0
FGD2	221472	broad.mit.edu	37	6	36982748	36982748	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:36982748C>T	uc010jwp.1	+	8	1134	c.963C>T	c.(961-963)CTC>CTT	p.L321L	FGD2_uc003ong.2_Silent_p.L43L|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Silent_p.L127L	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	321	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						ACACCCTGCTCCGTGAGGGCC	0.632		NA											6	32					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38790671	38790671	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:38790671C>T	uc003ooe.1	+	25	3530	c.2930C>T	c.(2929-2931)GCG>GTG	p.A977V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCGGGGGTAGCGGAGCACAAG	0.418		NA											4	34					0	0	0	0
GLP1R	2740	broad.mit.edu	37	6	39047475	39047475	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39047475C>T	uc003ooj.3	+	11	1239	c.1179C>T	c.(1177-1179)TTC>TTT	p.F393F	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	393	Helical; Name=7; (Potential).				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCACCTCCTTCCAGGTGACTT	0.512		NA											14	47					0	0	0	0
DAAM2	23500	broad.mit.edu	37	6	39869086	39869086	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:39869086G>T	uc003oow.2	+	24	2976	c.2820G>T	c.(2818-2820)AAG>AAT	p.K940N	DAAM2_uc003oox.2_Missense_Mutation_p.K939N	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTTCGCCAAGGCCTTGATGC	0.572		NA											44	155					2.53e-16	2.62e-16	1	0
PRPH2	5961	broad.mit.edu	37	6	42689888	42689888	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42689888T>C	uc003osk.2	-	1	471	c.185A>G	c.(184-186)AAC>AGC	p.N62S		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	62	Helical; (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TATCAATGAGTTGGGCACAAA	0.507		NA											23	80					0	0	0	0
PTCRA	171558	broad.mit.edu	37	6	42890854	42890854	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:42890854C>T	uc003osx.2	+	2	229	c.148C>T	c.(148-150)CTT>TTT	p.L50F	PTCRA_uc011duz.1_Silent_p.S60S|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.2_Intron|PTCRA_uc010jxz.2_Intron	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha precursor	50	Extracellular (Potential).					integral to membrane	receptor activity			ovary(2)	2	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCCTGGTCCTTGATGTTGC	0.602		NA											27	55					0	0	0	0
ABCC10	89845	broad.mit.edu	37	6	43406424	43406424	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43406424C>T	uc003ouy.1	+	8	2233	c.2018C>T	c.(2017-2019)CCC>CTC	p.P673L	ABCC10_uc003ouz.1_Missense_Mutation_p.P645L|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	673	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCCAGGAACCCTGGATCCAG	0.582		NA											40	41					0	0	0	0
C6orf154	221424	broad.mit.edu	37	6	43475211	43475211	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:43475211G>A	uc003ovk.1	-	5	1764	c.863C>T	c.(862-864)TCC>TTC	p.S288F	C6orf154_uc003ovj.1_Missense_Mutation_p.S97F	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	288											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCACATCCAGGAGCTGCTGCC	0.637		NA											4	36					0	0	0	0
AARS2	57505	broad.mit.edu	37	6	44273502	44273502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44273502G>C	uc010jza.1	-	10	1325	c.1322C>G	c.(1321-1323)TCA>TGA	p.S441*	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	441					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCACACAGTGACAAGGACCA	0.542		NA											22	95					0	0	0	0
SPATS1	221409	broad.mit.edu	37	6	44320587	44320587	+	Silent	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:44320587C>G	uc003oxk.2	+	2	611	c.264C>G	c.(262-264)CTC>CTG	p.L88L	SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	88										skin(1)	1	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCTGGCCTCCCCAGAGTGT	0.498		NA											8	55					0	0	0	0
RCAN2	10231	broad.mit.edu	37	6	46191013	46191013	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46191013C>T	uc003oyb.1	-	4	774	c.459G>A	c.(457-459)GGG>GGA	p.G153G	RCAN2_uc003oyc.1_Silent_p.G199G|RCAN2_uc003oyd.1_Silent_p.G199G	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	153					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						TGGACTCAGTCCCTGCATGGA	0.498		NA											27	104					0	0	0	0
GPR110	266977	broad.mit.edu	37	6	46993686	46993686	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:46993686C>T	uc003oyt.2	-	4	380	c.181G>A	c.(181-183)GAG>AAG	p.E61K	GPR110_uc011dwl.1_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.E61K	NM_153840	NP_722582	Q5T601	GP110_HUMAN	G-protein coupled receptor 110 isoform 1	61	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|pancreas(1)	3						TCTCTTTTCTCCTTGGAATCT	0.413		NA											20	82					0	0	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253704	47253704	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:47253704G>A	uc003oyv.2	-	2	1157	c.724C>T	c.(724-726)CCT>TCT	p.P242S		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	242	Extracellular (Potential).				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			GTGGAGGAAGGGACTTCATGG	0.512		NA											5	44					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51944732	51944732	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51944732G>A	uc003pah.1	-	5	632	c.356C>T	c.(355-357)CCA>CTA	p.P119L	PKHD1_uc003pai.2_Missense_Mutation_p.P119L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	119	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCCTGGATTTGGACTGCTTAC	0.473		NA											33	166					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51947307	51947307	+	Missense_Mutation	SNP	C	C	T	rs148070358		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:51947307C>T	uc003pah.1	-	4	440	c.164G>A	c.(163-165)GGC>GAC	p.G55D	PKHD1_uc003pai.2_Missense_Mutation_p.G55D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	55	Extracellular (Potential).|IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAATTGAGAGCCATTGTTGGG	0.478		NA											11	60					0	0	0	0
GSTA5	221357	broad.mit.edu	37	6	52701147	52701147	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52701147C>T	uc003pba.1	-	4	229	c.159G>A	c.(157-159)CAG>CAA	p.Q53Q		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	53	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTGGTACTTGCTGGAACAGCA	0.403		NA											26	90					0	0	0	0
ICK	22858	broad.mit.edu	37	6	52878665	52878665	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:52878665T>A	uc003pbh.2	-	10	1437	c.947A>T	c.(946-948)TAT>TTT	p.Y316F	ICK_uc003pbi.2_Missense_Mutation_p.Y316F	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	316					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TGGCTTAATATAAGGAGGTGG	0.532		NA											13	35					0	0	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381343	55381343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:55381343G>A	uc003pcn.2	-	5	605	c.446C>T	c.(445-447)CCT>CTT	p.P149L	HMGCLL1_uc003pco.2_Missense_Mutation_p.P119L|HMGCLL1_uc010jzx.2_Missense_Mutation_p.P20L|HMGCLL1_uc011dxc.1_Intron|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron|HMGCLL1_uc003pcp.2_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	149							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGTAAGGACAGGATAGCGAAC	0.338		NA											37	50					0	0	0	0
COL21A1	81578	broad.mit.edu	37	6	56033060	56033060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56033060G>A	uc003pcs.2	-	6	1294	c.1062C>T	c.(1060-1062)CTC>CTT	p.L354L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L354L|COL21A1_uc003pcu.1_Silent_p.L354L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	354	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTTACTAAGAGACGAATTT	0.358		NA											4	14					0	0	0	0
DST	667	broad.mit.edu	37	6	56457058	56457058	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56457058C>T	uc003pdf.2	-	43	6496	c.6468G>A	c.(6466-6468)GAG>GAA	p.E2156E	DST_uc003pcz.3_Silent_p.E1978E|DST_uc011dxj.1_Silent_p.E2007E|DST_uc011dxk.1_Silent_p.E2018E|DST_uc003pcy.3_Silent_p.E1652E|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4064					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)			TCGCTGTGGCCTCACAGGCCT	0.428		NA											3	23					0	0	0	0
DST	667	broad.mit.edu	37	6	56504804	56504804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:56504804G>A	uc003pdf.2	-	18	2471	c.2443C>T	c.(2443-2445)CAT>TAT	p.H815Y	DST_uc003pcz.3_Missense_Mutation_p.H637Y|DST_uc011dxj.1_Missense_Mutation_p.H666Y|DST_uc011dxk.1_Missense_Mutation_p.H677Y|DST_uc011dxl.1_Missense_Mutation_p.H666Y|DST_uc003pcy.3_Missense_Mutation_p.H311Y|DST_uc003pdb.2_Missense_Mutation_p.H311Y|DST_uc003pdc.3_Missense_Mutation_p.H311Y|DST_uc003pdd.3_Missense_Mutation_p.H311Y|DST_uc003pde.2_Missense_Mutation_p.H753Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	637					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)			TTTTCTAAATGGCTTTCAACA	0.313		NA											18	70					0	0	0	0
PRIM2	5558	broad.mit.edu	37	6	57398275	57398275	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:57398275C>T	uc003pdx.2	+	10	1065	c.978C>T	c.(976-978)TTC>TTT	p.F326F		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	326					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATTGCAGTTCTGGAAGCAAG	0.378		NA											21	170					0	0	0	0
COL19A1	1310	broad.mit.edu	37	6	70881893	70881893	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:70881893G>A	uc003pfc.1	+	41	2723	c.2606G>A	c.(2605-2607)GGA>GAA	p.G869E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	869	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GGATTAGAAGGATTTCCAGGT	0.274		NA											10	57					0	0	0	0
RIMS1	22999	broad.mit.edu	37	6	72961047	72961047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:72961047G>A	uc003pga.2	+	15	2751	c.2674G>A	c.(2674-2676)GAA>AAA	p.E892K	RIMS1_uc011dyb.1_Missense_Mutation_p.E518K|RIMS1_uc003pgc.2_Missense_Mutation_p.E518K|RIMS1_uc010kaq.2_Missense_Mutation_p.E366K|RIMS1_uc011dyc.1_Missense_Mutation_p.E366K|RIMS1_uc010kar.2_Missense_Mutation_p.E285K|RIMS1_uc011dyd.1_Missense_Mutation_p.E351K|RIMS1_uc003pgf.2_Missense_Mutation_p.E109K|RIMS1_uc003pgg.2_Missense_Mutation_p.E109K|RIMS1_uc003pgi.2_Missense_Mutation_p.E109K|RIMS1_uc003pgh.2_Missense_Mutation_p.E109K|RIMS1_uc003pgd.2_Missense_Mutation_p.E109K|RIMS1_uc003pge.2_Missense_Mutation_p.E109K|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.E518K|RIMS1_uc010kas.1_Missense_Mutation_p.E351K	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	892					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TATTCATGGAGAAAGCTCTAG	0.383		NA											4	6					0	0	0	0
DPPA5	340168	broad.mit.edu	37	6	74063936	74063936	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74063936G>A	uc003pgs.1	-	1	18	c.13C>T	c.(13-15)CCG>TCG	p.P5S		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	5					multicellular organismal development	cytoplasm	RNA binding				0						CTACGTGCCGGGAGAGTTCCC	0.582		NA											3	24					0	0	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228094	74228094	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:74228094C>T	uc003phi.2	-	5	1049	c.1012G>A	c.(1012-1014)GCT>ACT	p.A338T	EEF1A1_uc003phd.2_Missense_Mutation_p.A63T|EEF1A1_uc003phe.2_Missense_Mutation_p.A328T|EEF1A1_uc003phf.2_Intron|EEF1A1_uc003phg.2_Missense_Mutation_p.A338T|EEF1A1_uc003phh.2_Missense_Mutation_p.A184T|EEF1A1_uc003phj.2_Missense_Mutation_p.A338T|EEF1A1_uc003phk.2_Missense_Mutation_p.A338T|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	338						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GTGAAGCCAGCTGCTTCCATT	0.423		NA									OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	71					0	0	0	0
COL12A1	1303	broad.mit.edu	37	6	75892813	75892813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:75892813G>A	uc003phs.2	-	10	2010	c.1844C>T	c.(1843-1845)TCT>TTT	p.S615F	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.S273F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	615	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AAGGCAGATAGACTGTGTGAG	0.378		NA											16	54					0	0	0	0
FILIP1	27145	broad.mit.edu	37	6	76023594	76023594	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76023594C>T	uc003pia.2	-	5	2327	c.1954G>A	c.(1954-1956)GAT>AAT	p.D652N	FILIP1_uc003phy.1_Missense_Mutation_p.D652N|FILIP1_uc003phz.2_Missense_Mutation_p.D553N|FILIP1_uc010kbe.2_Missense_Mutation_p.D655N|FILIP1_uc003pib.1_Missense_Mutation_p.D404N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	652	Potential.									skin(3)|ovary(1)	4						TTCATCAAATCCCCTTCGACC	0.418		NA											59	227					0	0	0	0
IMPG1	3617	broad.mit.edu	37	6	76744039	76744040	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744039_76744040GG>AA	uc003pik.1	-	4	619_620	c.489_490CC>TT	c.(487-492)TTCCCT>TTTTCT	p.P164S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	164					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCCTGTCAGGGAAACTTCTCT	0.337		NA											12	31					0	0	0	0
IMPG1	3617	broad.mit.edu	37	6	76744384	76744384	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:76744384C>T	uc003pik.1	-	3	552	c.422G>A	c.(421-423)GGA>GAA	p.G141E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	141					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAAGTTTTTTCCAATGTCAAA	0.507		NA											23	86					0	0	0	0
TPBG	7162	broad.mit.edu	37	6	83075562	83075562	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83075562C>T	uc003pjn.3	+	3	1820	c.884C>T	c.(883-885)CCC>CTC	p.P295L	TPBG_uc010kbj.2_Missense_Mutation_p.P295L|TPBG_uc003pjo.2_Missense_Mutation_p.P295L	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	295	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GACAACAATCCCTGGGTCTGC	0.552		NA											13	67					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848374	83848374	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:83848374G>C	uc003pjs.1	+	21	4873	c.4613G>C	c.(4612-4614)AGT>ACT	p.S1538T	DOPEY1_uc011dyy.1_Missense_Mutation_p.S1529T|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1529T|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1538					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTATCTTTAGTGCTCAGAAA	0.388		NA											15	55					0	0	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:84765138C>T	uc003pkg.3	+	2	291	c.101C>T	c.(100-102)TCC>TTC	p.S34F	MRAP2_uc010kbo.2_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			skin(2)	2						GGACCAGTTTCCTTTGAAGGA	0.373		NA											13	47					0	0	0	0
ZNF292	23036	broad.mit.edu	37	6	87968650	87968650	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:87968650C>T	uc003plm.3	+	8	5344	c.5303C>T	c.(5302-5304)TCT>TTT	p.S1768F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTATGAATTCTCAAATACTT	0.318		NA											8	16					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90380682	90380682	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90380682G>A	uc003pnn.1	-	83	14028	c.13912C>T	c.(13912-13914)CTG>TTG	p.L4638L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4638					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)		ACAGAGAGCAGCTTTGCAGTA	0.532		NA											21	73					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90398396	90398396	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90398396G>A	uc003pnn.1	-	66	11271	c.11155C>T	c.(11155-11157)CCC>TCC	p.P3719S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3719					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)		GGAACATTGGGATGCTGGTAG	0.532		NA											17	19					0	0	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577717	90577717	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:90577717C>T	uc003pnr.2	+	8	4904	c.4708C>T	c.(4708-4710)CCC>TCC	p.P1570S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.P1570S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.P1570S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1570					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GACATCTTTGCCCAGACATGG	0.388		NA											45	168					0	0	0	0
C6orf167	253714	broad.mit.edu	37	6	97681814	97681814	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:97681814A>C	uc003ppb.2	-	12	1491	c.1225T>G	c.(1225-1227)TGT>GGT	p.C409G	C6orf167_uc011eaf.1_Intron|C6orf167_uc010kcn.1_Missense_Mutation_p.C183G|C6orf167_uc010kco.1_Missense_Mutation_p.C145G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	409					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AGTGTCAAACAACAGTGAAGA	0.328		NA											27	87					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100841642	100841642	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:100841642C>T	uc003pqj.3	-	10	1498	c.1291G>A	c.(1291-1293)GAC>AAC	p.D431N	SIM1_uc010kcu.2_Missense_Mutation_p.D431N	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	431	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CACGATGCGTCGTGCTGGGAG	0.602		NA											18	35					0	0	0	0
HACE1	57531	broad.mit.edu	37	6	105198279	105198279	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105198279A>G	uc003pqu.1	-	20	2557	c.2280T>C	c.(2278-2280)TTT>TTC	p.F760F	HACE1_uc010kcy.1_Silent_p.F242F|HACE1_uc010kcz.1_Silent_p.F545F|HACE1_uc010kcx.1_Silent_p.F169F|HACE1_uc003pqt.1_Silent_p.F413F	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	760	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCCCTGTAAAAAAGCATTGA	0.383		NA											10	36					0	0	0	0
HACE1	57531	broad.mit.edu	37	6	105224670	105224670	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105224670G>A	uc003pqu.1	-	17	2087	c.1810C>T	c.(1810-1812)CTG>TTG	p.L604L	HACE1_uc010kcy.1_Silent_p.L86L|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Silent_p.L13L|HACE1_uc003pqt.1_Silent_p.L257L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	604	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATTGGACAGAATATCAAAC	0.333		NA											10	38					0	0	0	0
BVES	11149	broad.mit.edu	37	6	105563586	105563586	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105563586C>T	uc003pqw.2	-	7	1090	c.933G>A	c.(931-933)CGG>CGA	p.R311R	BVES_uc003pqx.2_Silent_p.R311R|BVES_uc003pqy.2_Silent_p.R311R	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	311	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGGTACCCCGAAGAAACT	0.473		NA											16	76					0	0	0	0
PREP	5550	broad.mit.edu	37	6	105726198	105726198	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:105726198A>G	uc003prc.2	-	15	2157	c.1954T>C	c.(1954-1956)TTC>CTC	p.F652L		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	652					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGCAATGAACTTCAGGGAG	0.468		NA											7	37					0	0	0	0
BEND3	57673	broad.mit.edu	37	6	107390290	107390290	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:107390290G>A	uc003prs.2	-	5	2755	c.2105C>T	c.(2104-2106)CCC>CTC	p.P702L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	702										ovary(3)	3						CTCGTCCAAGGGGATCTTGCA	0.617		NA											10	74					0	0	0	0
WASF1	8936	broad.mit.edu	37	6	110422844	110422844	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:110422844G>A	uc003ptv.1	-	10	2306	c.1469C>T	c.(1468-1470)ACC>ATC	p.T490I	WASF1_uc003ptw.1_Missense_Mutation_p.T490I|WASF1_uc003ptx.1_Missense_Mutation_p.T490I|WASF1_uc003pty.1_Missense_Mutation_p.T490I	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	490					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TACAGGTAGGGTTGATGGATG	0.468		NA											32	123					0	0	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128036	117128036	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117128036G>A	uc003pxj.1	-	3	854	c.832C>T	c.(832-834)CTG>TTG	p.L278L	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Silent_p.L278L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	278	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATTGCCTCAGAAATACCACA	0.353		NA											14	60					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117609777	117609777	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117609777C>T	uc003pxp.1	-	43	7121	c.6922G>A	c.(6922-6924)GAA>AAA	p.E2308K	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2308	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATGTGGTTCCTTCTCTTCT	0.483		NA	T	GOPC|ROS1	glioblastoma|NSCLC								17	60					0	0	0	0
ROS1	6098	broad.mit.edu	37	6	117718139	117718139	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:117718139C>T	uc003pxp.1	-	7	917	c.718G>A	c.(718-720)GAT>AAT	p.D240N	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	240	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTCCCTGCATCTAATTTTTGA	0.408		NA	T	GOPC|ROS1	glioblastoma|NSCLC								32	121					0	0	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475784	118475784	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:118475784G>A	uc003pxx.3	+	2	550	c.349_splice	c.e2+1	p.G117_splice		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		GTCAGACAAGGTAAGCTCACA	0.403		NA											29	137					0	0	0	0
THEMIS	387357	broad.mit.edu	37	6	128134451	128134451	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128134451C>T	uc003qbi.2	-	5	1654	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	THEMIS_uc010kfa.2_Silent_p.P348P|THEMIS_uc011ebt.1_Silent_p.P445P|THEMIS_uc010kfb.2_Silent_p.P410P	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	445	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						GCTCAGAAATCGGGTACTGTT	0.468		NA											32	115					0	0	0	0
THEMIS	387357	broad.mit.edu	37	6	128150863	128150863	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128150863C>T	uc003qbi.2	-	4	786	c.467G>A	c.(466-468)AGG>AAG	p.R156K	THEMIS_uc010kfa.2_Missense_Mutation_p.R59K|THEMIS_uc011ebt.1_Missense_Mutation_p.R156K|THEMIS_uc010kfb.2_Missense_Mutation_p.R121K	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	156	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						TTGATGATTCCTTGCTACTGC	0.378		NA											14	109					0	0	0	0
PTPRK	5796	broad.mit.edu	37	6	128411004	128411004	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:128411004G>A	uc003qbk.2	-	8	1663	c.1296C>T	c.(1294-1296)TTC>TTT	p.F432F	PTPRK_uc003qbj.2_Silent_p.F432F|PTPRK_uc010kfc.2_Silent_p.F432F|PTPRK_uc011ebu.1_Silent_p.F432F|PTPRK_uc003qbl.1_Silent_p.F302F|PTPRK_uc011ebv.1_Silent_p.F432F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	432	Extracellular (Potential).|Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483		NA											16	66					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129634086	129634086	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129634086C>T	uc003qbn.2	+	23	3360	c.3255C>T	c.(3253-3255)TTC>TTT	p.F1085F	LAMA2_uc003qbo.2_Silent_p.F1085F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1085	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCCAAAATTCTCTGGTGCAA	0.473		NA											5	36					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129802480	129802480	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:129802480G>A	uc003qbn.2	+	54	7750	c.7645G>A	c.(7645-7647)GAA>AAA	p.E2549K	LAMA2_uc003qbo.2_Missense_Mutation_p.E2545K|uc003qbq.2_RNA	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2549	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTAGGAACAGAAATCAACCT	0.463		NA											26	95					0	0	0	0
EPB41L2	2037	broad.mit.edu	37	6	131211548	131211548	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:131211548G>A	uc003qch.2	-	11	1728	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	EPB41L2_uc003qcg.1_Missense_Mutation_p.R516C|EPB41L2_uc011eby.1_Missense_Mutation_p.R516C|EPB41L2_uc003qci.2_Missense_Mutation_p.R516C|EPB41L2_uc010kfk.2_Missense_Mutation_p.R516C|EPB41L2_uc010kfl.1_Missense_Mutation_p.R516C	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	516	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCACTATAGCGAAATTTGGAC	0.517		NA											54	76					0	0	0	0
CTAGE9	643854	broad.mit.edu	37	6	132029995	132029995	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:132029995G>A	uc011ece.1	-	1	2163	c.2163C>T	c.(2161-2163)TTC>TTT	p.F721F	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	CTAGE family, member 4-like	721	Pro-rich.					integral to membrane					0						GAGGTGGGGGGAAAGGAGGTC	0.522		NA											44	142					0	0	0	0
VNN1	8876	broad.mit.edu	37	6	133014449	133014449	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:133014449G>A	uc003qdo.2	-	4	560	c.540C>T	c.(538-540)AAC>AAT	p.N180N		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	180	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATGAAAAGGTTTTGCTGCA	0.363		NA											8	32					0	0	0	0
AHI1	54806	broad.mit.edu	37	6	135811762	135811762	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:135811762G>A	uc003qgi.2	-	5	518	c.134C>T	c.(133-135)TCA>TTA	p.S45L	AHI1_uc003qgh.2_Missense_Mutation_p.S45L|AHI1_uc003qgj.2_Missense_Mutation_p.S45L|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.S45L	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	45	Potential.					adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTACTTACTGAGATGTTTTC	0.318		NA											29	140					0	0	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202171	138202171	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:138202171G>A	uc003qhr.2	+	9	2155	c.2089_splice	c.e9-1	p.R697_splice	TNFAIP3_uc003qhs.2_Splice_Site_p.R697_splice	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3						anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTCCACTCAGAGATCGAGCC	0.522		NA	D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								18	63					0	0	0	0
NMBR	4829	broad.mit.edu	37	6	142409721	142409721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:142409721C>T	uc003qiu.2	-	1	216	c.75G>A	c.(73-75)TGG>TGA	p.W25*		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	25	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AATCCCTTTCCCACCCCTCGG	0.612		NA											10	29					0	0	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262941	144262941	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:144262941C>T	uc003qjv.2	-	3	2278	c.1012G>A	c.(1012-1014)GAG>AAG	p.E338K	PLAGL1_uc003qjx.2_Missense_Mutation_p.E338K|PLAGL1_uc003qjy.2_Missense_Mutation_p.E338K|PLAGL1_uc010khl.2_Missense_Mutation_p.E338K|PLAGL1_uc010khm.2_Missense_Mutation_p.E338K|PLAGL1_uc003qjz.2_Missense_Mutation_p.E338K|PLAGL1_uc003qka.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkb.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkc.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkd.2_Missense_Mutation_p.E286K|PLAGL1_uc003qke.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkf.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkg.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkh.2_Missense_Mutation_p.E338K|PLAGL1_uc003qki.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkj.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkk.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkl.2_Missense_Mutation_p.E286K|PLAGL1_uc003qkm.2_Missense_Mutation_p.E338K|PLAGL1_uc010khn.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkn.2_Missense_Mutation_p.E286K|PLAGL1_uc003qko.2_Missense_Mutation_p.E338K|PLAGL1_uc003qkp.2_Missense_Mutation_p.E286K|PLAGL1_uc003qjw.2_Missense_Mutation_p.E286K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1 isoform 1	338					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GACTGAGGCTCTTGCAGAGGC	0.483		NA									OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	62					0	0	0	0
GRM1	2911	broad.mit.edu	37	6	146755382	146755382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:146755382G>A	uc010khw.1	+	9	3505	c.3035G>A	c.(3034-3036)GGC>GAC	p.G1012D	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1012	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTCCCCAAGGGCTTGCCCCCT	0.667		NA											26	105					0	0	0	0
STXBP5	134957	broad.mit.edu	37	6	147635423	147635423	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:147635423T>A	uc003qlz.2	+	13	1478	c.1317T>A	c.(1315-1317)AAT>AAA	p.N439K	STXBP5_uc010khz.1_Missense_Mutation_p.N439K|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.N110K	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	439	WD 8.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACGGAGGTAATTGGGGCTTGG	0.313		NA											41	132					0	0	0	0
LRP11	84918	broad.mit.edu	37	6	150164231	150164231	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150164231G>A	uc003qng.2	-	3	1125	c.801C>T	c.(799-801)TCC>TCT	p.S267S	LRP11_uc003qnh.1_Silent_p.S267S	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	267	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CCTGTAGGTGGGACAGCTTCA	0.592		NA											12	28					0	0	0	0
ULBP2	80328	broad.mit.edu	37	6	150267511	150267512	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:150267511_150267512CC>TT	uc003qno.2	+	3	426_427	c.353_354CC>TT	c.(352-354)CCC>CTT	p.P118L	ULBP2_uc011eeh.1_Missense_Mutation_p.P118L|ULBP2_uc010kij.2_Missense_Mutation_p.P118L	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2 precursor	118	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GGGGCAGAACCCCTCACCCTGC	0.51		NA											13	74					0	0	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130814	151130814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151130814G>A	uc003qny.1	+	11	1534	c.1222G>A	c.(1222-1224)GTT>ATT	p.V408I	PLEKHG1_uc011eel.1_Missense_Mutation_p.V448I|PLEKHG1_uc011eem.1_Missense_Mutation_p.V467I|PLEKHG1_uc003qnz.2_Missense_Mutation_p.V408I	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	408	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACGCCTCTGGGTTCTGCACCT	0.458		NA											9	40					0	0	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151947	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151151947C>T	uc003qny.1	+	16	2012	c.1700C>T	c.(1699-1701)TCC>TTC	p.S567F	PLEKHG1_uc011eel.1_Missense_Mutation_p.S607F|PLEKHG1_uc011eem.1_Missense_Mutation_p.S626F|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S567F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGAT	0.517		NA											32	68					0	0	0	0
C6orf211	79624	broad.mit.edu	37	6	151779649	151779649	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:151779649C>T	uc003qok.1	+	3	593	c.334C>T	c.(334-336)CCG>TCG	p.P112S	C6orf211_uc011ees.1_5'UTR	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	112							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GTTCTACTCACCGTGGTTGTT	0.328		NA											27	31					0	0	0	0
TIAM2	26230	broad.mit.edu	37	6	155486520	155486520	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155486520G>A	uc003qqb.2	+	11	3611	c.2338G>A	c.(2338-2340)GAG>AAG	p.E780K	TIAM2_uc003qqe.2_Missense_Mutation_p.E780K|TIAM2_uc010kjj.2_Missense_Mutation_p.E313K|TIAM2_uc003qqf.2_Missense_Mutation_p.E132K|TIAM2_uc011efl.1_Missense_Mutation_p.E92K|TIAM2_uc003qqg.2_Missense_Mutation_p.E92K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	780					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAAGGCAAGGAGAAGAGACC	0.463		NA											20	78					0	0	0	0
TFB1M	51106	broad.mit.edu	37	6	155618126	155618126	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:155618126T>C	uc003qqj.3	-	4	571	c.507A>G	c.(505-507)AGA>AGG	p.R169R	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCATCTGAGTTCTGCCATAAA	0.323		NA											16	29					0	0	0	0
ARID1B	57492	broad.mit.edu	37	6	157405953	157405953	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:157405953C>T	uc003qqn.2	+	5	2134	c.1982C>T	c.(1981-1983)CCG>CTG	p.P661L	ARID1B_uc003qqo.2_Missense_Mutation_p.P674L|ARID1B_uc003qqp.2_Missense_Mutation_p.P661L|ARID1B_uc003qqq.1_Missense_Mutation_p.P103L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCA	0.597		NA											9	77					0	0	0	0
SERAC1	84947	broad.mit.edu	37	6	158538839	158538839	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158538839T>C	uc003qrc.2	-	13	1465	c.1323A>G	c.(1321-1323)AAA>AAG	p.K441K	SERAC1_uc003qrb.2_Silent_p.K169K	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	serine active site containing 1	441					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds				0		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CAGGACAGTCTTTTGCTAACC	0.403		NA											20	80					0	0	0	0
TULP4	56995	broad.mit.edu	37	6	158922890	158922890	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:158922890G>C	uc003qrf.2	+	13	3552	c.2195G>C	c.(2194-2196)GGG>GCG	p.G732A	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	732					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACAGCTGTAGGGACAGCAGAA	0.572		NA											22	106					0	0	0	0
SYTL3	94120	broad.mit.edu	37	6	159184341	159184341	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:159184341T>A	uc003qrp.2	+	16	1767	c.1523T>A	c.(1522-1524)CTC>CAC	p.L508H	SYTL3_uc011efp.1_Missense_Mutation_p.L508H|SYTL3_uc003qro.2_Missense_Mutation_p.L440H|SYTL3_uc003qrq.2_Missense_Mutation_p.L440H|SYTL3_uc003qrr.2_Missense_Mutation_p.L508H|SYTL3_uc003qrs.2_Missense_Mutation_p.L440H|SYTL3_uc011efq.1_Missense_Mutation_p.L234H	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCAGCTGTCTCACTCTGCCA	0.532		NA											6	34					0	0	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679479	160679479	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:160679479A>C	uc003qtf.2	-	1	481	c.311T>G	c.(310-312)GTG>GGG	p.V104G	SLC22A2_uc003qte.1_Missense_Mutation_p.V104G|SLC22A2_uc003qth.1_Missense_Mutation_p.V104G	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	104	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGGGGGTCCACGCAGTCGAA	0.682		NA											16	65					0	0	0	0
LPA	4018	broad.mit.edu	37	6	161071470	161071470	+	Nonsense_Mutation	SNP	G	G	A	rs121912503		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:161071470G>A	uc003qtl.2	-	3	229	c.109C>T	c.(109-111)CGA>TGA	p.R37*		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	2545	Kringle 23.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACGTGCCTCGATAACTCTGT	0.453		NA											52	225					0	0	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166921708	166921708	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:166921708T>G	uc003qvb.1	-	5	661	c.442A>C	c.(442-444)ACC>CCC	p.T148P	RPS6KA2_uc011ego.1_Missense_Mutation_p.T59P|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T59P|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T156P|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T173P	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	148	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAGAGCCGGGTGAAGAGGTCC	0.612		NA											6	26					0	0	0	0
SMOC2	64094	broad.mit.edu	37	6	169053673	169053673	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:169053673G>A	uc003qws.1	+	11	1070	c.1050G>A	c.(1048-1050)CGG>CGA	p.R350R	SMOC2_uc003qwr.1_Silent_p.R361R|SMOC2_uc011egu.1_Silent_p.R27R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	350	EF-hand 1.				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)		TAGAGGAGCGGGTGGTGCACT	0.517		NA											17	32					0	0	0	0
WDR27	253769	broad.mit.edu	37	6	170088966	170088966	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170088966G>A	uc003qwx.2	-	2	656	c.136C>T	c.(136-138)CCT>TCT	p.P46S	WDR27_uc010kkw.1_Missense_Mutation_p.P46S|WDR27_uc003qwy.2_Missense_Mutation_p.P46S|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Missense_Mutation_p.P46S			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	46	WD 1.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCATCCAAAGGGAAAGCACAG	0.433		NA											21	106					0	0	0	0
DLL1	28514	broad.mit.edu	37	6	170595353	170595353	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr6:170595353C>T	uc003qxm.2	-	5	1174	c.704G>A	c.(703-705)GGA>GAA	p.G235E		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	235	Extracellular (Potential).|EGF-like 1.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GTCACAAAATCCATGCTGCTC	0.483		NA											20	72					0	0	0	0
LFNG	3955	broad.mit.edu	37	7	2559921	2559921	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2559921G>A	uc003smf.2	+	1	443	c.426G>A	c.(424-426)AAG>AAA	p.K142K	LFNG_uc003smg.2_Silent_p.K142K	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	lunatic fringe isoform a	142	Lumenal (Potential).				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CGCGCCACAAGGAGATGGTGA	0.622		NA											12	43					0	0	0	0
IQCE	23288	broad.mit.edu	37	7	2645612	2645612	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:2645612C>T	uc003smo.3	+	20	2030	c.1846C>T	c.(1846-1848)CTG>TTG	p.L616L	IQCE_uc003sml.1_Silent_p.L616L|IQCE_uc011jvy.1_Silent_p.L600L|IQCE_uc011jvz.1_Silent_p.L551L|IQCE_uc003smk.3_Silent_p.L600L|IQCE_uc003smn.3_Silent_p.L551L	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	616	IQ 2.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCGGGCACACCTGGCCCGGGC	0.706		NA											4	47					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4153028	4153028	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4153028C>T	uc003smx.2	+	24	3681	c.3542C>T	c.(3541-3543)ACG>ATG	p.T1181M	SDK1_uc010kso.2_Missense_Mutation_p.T457M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1181	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCGTCACGGTCCGTACT	0.647		NA											26	193					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	4272892	4272892	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4272892G>A	uc003smx.2	+	41	5972	c.5833G>A	c.(5833-5835)GGC>AGC	p.G1945S	SDK1_uc010kso.2_Missense_Mutation_p.G1201S|SDK1_uc003smy.2_Missense_Mutation_p.G432S|SDK1_uc003smz.2_Missense_Mutation_p.G5S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1945	Fibronectin type-III 13.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGATGAAGGCTTATGGGA	0.592		NA											41	59					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4874565	4874566	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4874565_4874566GG>AA	uc003snj.1	-	4	1261_1262	c.1088_1089CC>TT	c.(1087-1089)CCC>CTT	p.P363L	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.P123L|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	363	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGCGGGCAGGGGCTGGGCCTG	0.752		NA											4	17					0	0	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901389	4901389	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:4901389G>A	uc003snk.2	-	1	237	c.53C>T	c.(52-54)CCG>CTG	p.P18L	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	17					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTAGCGATTCGGCGGCGGCGC	0.672		NA											9	13					0	0	0	0
TNRC18	84629	broad.mit.edu	37	7	5410575	5410575	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:5410575G>A	uc003soi.3	-	11	3999	c.3650C>T	c.(3649-3651)TCT>TTT	p.S1217F		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1217							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGACACTCAGAGGGCTCTGC	0.692		NA											11	82					0	0	0	0
AIMP2	7965	broad.mit.edu	37	7	6063300	6063300	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:6063300C>T	uc003spo.2	+	4	1054	c.941C>T	c.(940-942)ACG>ATG	p.T314M	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR|EIF2AK1_uc011jwm.1_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	314	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CCTTTTAACACGGCCCTCAAG	0.468		NA											14	76					0	0	0	0
COL28A1	340267	broad.mit.edu	37	7	7516750	7516750	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:7516750C>T	uc003src.1	-	14	1343	c.1226G>A	c.(1225-1227)GGA>GAA	p.G409E	COL28A1_uc011jxe.1_Missense_Mutation_p.G92E|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	409					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G409R(1)		skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTGGAAATCC	0.383		NA											44	73					0	0	0	0
ICA1	3382	broad.mit.edu	37	7	8167554	8167554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:8167554G>A	uc003srm.2	-	13	1346	c.1279C>T	c.(1279-1281)CCT>TCT	p.P427S	ICA1_uc010ktr.2_Missense_Mutation_p.P456S|ICA1_uc003srl.2_Missense_Mutation_p.P415S|ICA1_uc003srn.3_Missense_Mutation_p.P353S|ICA1_uc003srp.3_Missense_Mutation_p.P426S|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.P427S|ICA1_uc003srr.2_Missense_Mutation_p.P426S|ICA1_uc003sro.3_Missense_Mutation_p.P427S	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	427					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGCTGCGAAGGAAGGAAACCT	0.517		NA											39	214					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11446682	11446683	+	Splice_Site	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11446682_11446683CC>TT	uc003ssf.3	-	20	4169	c.3917_splice	c.e20-1	p.G1306_splice		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATCATTTTTCCTTGAAGAGAT	0.455		NA								HNSCC(18;0.044)			5	46					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11582619	11582619	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:11582619C>T	uc003ssf.3	-	5	1831	c.1579G>A	c.(1579-1581)GAA>AAA	p.E527K		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	527	TSP type-1 5.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTACAGTTTTCATAAGTACAA	0.393		NA								HNSCC(18;0.044)			23	48					0	0	0	0
HDAC9	9734	broad.mit.edu	37	7	18688107	18688107	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:18688107C>T	uc003suh.2	+	10	1300	c.1259C>T	c.(1258-1260)CCT>CTT	p.P420L	HDAC9_uc003sue.2_Missense_Mutation_p.P420L|HDAC9_uc011jyd.1_Missense_Mutation_p.P420L|HDAC9_uc003sui.2_Missense_Mutation_p.P423L|HDAC9_uc003suj.2_Missense_Mutation_p.P379L|HDAC9_uc011jya.1_Missense_Mutation_p.P417L|HDAC9_uc003sua.1_Missense_Mutation_p.P398L|HDAC9_uc011jyb.1_Missense_Mutation_p.P376L|HDAC9_uc003sud.1_Missense_Mutation_p.P420L|HDAC9_uc011jyc.1_Missense_Mutation_p.P379L|HDAC9_uc003suf.1_Missense_Mutation_p.P451L|HDAC9_uc010kud.1_Missense_Mutation_p.P423L|HDAC9_uc011jye.1_Missense_Mutation_p.P392L|HDAC9_uc011jyf.1_Missense_Mutation_p.P343L|HDAC9_uc010kue.1_Missense_Mutation_p.P163L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	420					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTTACATCCTCAGTCTCCC	0.353		NA											10	78					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21627720	21627720	+	Silent	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21627720T>G	uc003svc.2	+	10	1780	c.1749T>G	c.(1747-1749)GTT>GTG	p.V583V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	583	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						AGAAGCCAGTTGTCATGGAAA	0.348		NA							Kartagener_syndrome				10	63					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21639524	21639524	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21639524C>T	uc003svc.2	+	15	2818	c.2787C>T	c.(2785-2787)TTC>TTT	p.F929F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACTTAGACTTCTTTCTGAAGA	0.398		NA							Kartagener_syndrome				8	38					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21744165	21744165	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:21744165G>A	uc003svc.2	+	39	6439	c.6408G>A	c.(6406-6408)AGG>AGA	p.R2136R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2136					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGCCCCGGAGGAGGAAGCTGC	0.522		NA							Kartagener_syndrome				7	52					0	0	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391088	23391088	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:23391088C>T	uc003swg.2	-	6	785	c.519G>A	c.(517-519)GGG>GGA	p.G173G		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	173					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						TCTGCCCAAGCCCCCGGCGAC	0.557		NA											14	49					0	0	0	0
NPVF	64111	broad.mit.edu	37	7	25268016	25268016	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:25268016C>A	uc003sxo.2	-	1	90	c.43G>T	c.(43-45)GCC>TCC	p.A15S		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	15					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1						CTTGAAGTGGCTAAAGTCAAT	0.303		NA											13	56					2.27e-07	2.32e-07	1	0
HOXA3	3200	broad.mit.edu	37	7	27148004	27148004	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:27148004G>A	uc011jzl.1	-	3	1062	c.862C>T	c.(862-864)CCG>TCG	p.P288S	HOXA3_uc011jzk.1_Missense_Mutation_p.P130S|HOXA3_uc003syk.2_Missense_Mutation_p.P288S	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	288					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						GGCTCATACGGGACGCTGTTG	0.687		NA											14	66					0	0	0	0
CHN2	1124	broad.mit.edu	37	7	29544359	29544359	+	Splice_Site	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:29544359G>A	uc003szz.2	+	10	1351	c.914_splice	c.e10-1	p.G305_splice	CHN2_uc011jzs.1_Splice_Site_p.G380_splice|CHN2_uc010kva.2_Splice_Site_p.G75_splice|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Splice_Site_p.G270_splice|CHN2_uc011jzt.1_Splice_Site_p.G318_splice|CHN2_uc010kvd.2_Splice_Site_p.G161_splice|CHN2_uc011jzu.1_Splice_Site_p.G290_splice|CHN2_uc010kvg.2_Splice_Site_p.G169_splice|CHN2_uc010kvh.2_Splice_Site_p.G111_splice|CHN2_uc010kvi.2_Intron|CHN2_uc010kve.2_Splice_Site_p.G169_splice|CHN2_uc003taa.2_Splice_Site_p.G169_splice|CHN2_uc010kvf.2_Splice_Site_p.G111_splice|CHN2_uc010kvj.2_Splice_Site_p.G124_splice|CHN2_uc010kvk.2_Splice_Site|CHN2_uc010kvl.2_Splice_Site|CHN2_uc010kvm.2_Splice_Site_p.G124_splice|CHN2_uc011jzv.1_Splice_Site_p.G98_splice	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						CTCTCTAACAGGATTAAAATC	0.353		NA											10	53					0	0	0	0
FKBP14	55033	broad.mit.edu	37	7	30066080	30066080	+	Silent	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30066080A>T	uc003tal.1	-	1	189	c.45T>A	c.(43-45)ACT>ACA	p.T15T	PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	15					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						CAATCAAAGAAGTGACGAACA	0.473		NA											32	62					0	0	0	0
NOD1	10392	broad.mit.edu	37	7	30491316	30491316	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:30491316G>A	uc003tav.2	-	6	2240	c.1717C>T	c.(1717-1719)CCG>TCG	p.P573S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	573					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TCCCGCGCCGGACCACTGCCC	0.607		NA											13	65					0	0	0	0
FKBP9	11328	broad.mit.edu	37	7	33039805	33039805	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33039805G>A	uc003tdh.2	+	8	1486	c.1305G>A	c.(1303-1305)GAG>GAA	p.E435E	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.E488E|FKBP9_uc011kam.1_Silent_p.E203E	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	435	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			GTCTCAGAGAGATGTGCGTTG	0.502		NA											19	105					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33376101	33376101	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:33376101G>A	uc003tdn.1	+	10	1578	c.1065G>A	c.(1063-1065)CAG>CAA	p.Q355Q	BBS9_uc003tdo.1_Silent_p.Q355Q|BBS9_uc003tdp.1_Silent_p.Q355Q|BBS9_uc003tdq.1_Silent_p.Q355Q|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Silent_p.Q233Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	355					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.Q355H(1)		ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			GTCACTTGCAGTGTTCATACC	0.373		NA							Bardet-Biedl_syndrome				12	42					0	0	0	0
AOAH	313	broad.mit.edu	37	7	36580098	36580098	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:36580098C>T	uc003tfh.3	-	16	1535	c.1134_splice	c.e16-1	p.G378_splice	AOAH_uc010kxf.2_Splice_Site_p.G378_splice|AOAH_uc011kba.1_Splice_Site_p.G346_splice	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor						inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						GTCACTCTTCCTGTTGGTGGA	0.408		NA											20	97					0	0	0	0
TXNDC3	51314	broad.mit.edu	37	7	37907425	37907425	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37907425C>T	uc003tfn.2	+	11	1115	c.743C>T	c.(742-744)CCT>CTT	p.P248L		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	248	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GACACCGAACCTAACGAACGA	0.438		NA							Kartagener_syndrome				12	31					0	0	0	0
TXNDC3	51314	broad.mit.edu	37	7	37927979	37927979	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37927979C>T	uc003tfn.2	+	15	1720	c.1348C>T	c.(1348-1350)CTT>TTT	p.L450F		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	450	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TTTCTTTCCTCTTCAAAGCAC	0.368		NA							Kartagener_syndrome				8	62					0	0	0	0
SFRP4	6424	broad.mit.edu	37	7	37947224	37947224	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:37947224C>T	uc003tfo.3	-	6	1284	c.898G>A	c.(898-900)GAC>AAC	p.D300N		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	300	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TTCTTCTTGTCCTGAACTGTT	0.493		NA											17	76					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40027827	40027827	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40027827C>T	uc003thh.3	+	2	2123	c.1841C>T	c.(1840-1842)CCC>CTC	p.P614L	CDK13_uc003thi.3_Missense_Mutation_p.P614L|CDK13_uc011kbf.1_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	614					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CCTTTGCCTCCCATGCTGCCT	0.398		NA											22	82					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40127730	40127730	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:40127730C>T	uc003thh.3	+	12	3317	c.3035C>T	c.(3034-3036)CCT>CTT	p.P1012L	CDK13_uc003thi.3_Missense_Mutation_p.P1012L|CDK13_uc003thj.2_Missense_Mutation_p.P63L	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1012					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TTCAGTCTCCCTTTATGGCAA	0.373		NA											10	37					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43484379	43484379	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484379C>T	uc003tid.1	+	11	2213	c.1608C>T	c.(1606-1608)TCC>TCT	p.S536S	HECW1_uc011kbi.1_Silent_p.S536S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	536					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGCCCTGCTCCTTGCCTGTGT	0.582		NA											4	29					0	0	0	0
HECW1	23072	broad.mit.edu	37	7	43484409	43484409	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43484409C>T	uc003tid.1	+	11	2243	c.1638C>T	c.(1636-1638)ATC>ATT	p.I546I	HECW1_uc011kbi.1_Silent_p.I546I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	546					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AGACGGTGATCGCGTCAGCCT	0.687		NA											5	50					0	0	0	0
BLVRA	644	broad.mit.edu	37	7	43832321	43832321	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:43832321C>G	uc003tir.2	+	5	345	c.262C>G	c.(262-264)CTT>GTT	p.L88V	BLVRA_uc010kxv.2_Missense_Mutation_p.L88V	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor	88					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	AAGGCAGTTCCTTAATGCTGG	0.453		NA											12	27					0	0	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579040	44579040	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44579040G>A	uc003tlb.2	-	2	1012	c.956C>T	c.(955-957)CCC>CTC	p.P319L	NPC1L1_uc003tlc.2_Missense_Mutation_p.P319L|NPC1L1_uc011kbw.1_Missense_Mutation_p.P319L|NPC1L1_uc003tld.2_Missense_Mutation_p.P319L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	319	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GCCCTTCTTGGGGTCCACCAT	0.607		NA											32	81					0	0	0	0
OGDH	4967	broad.mit.edu	37	7	44741144	44741144	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44741144A>C	uc003tln.2	+	20	2671	c.2562A>C	c.(2560-2562)TTA>TTC	p.L854F	OGDH_uc011kbx.1_Missense_Mutation_p.L850F|OGDH_uc011kby.1_Missense_Mutation_p.L704F|OGDH_uc003tlp.2_Missense_Mutation_p.L865F|OGDH_uc011kbz.1_Missense_Mutation_p.L649F	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	854					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TATTTCAGTTAATTATCTTCA	0.498		NA											21	34					0	0	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804988	44804988	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44804988C>T	uc003tlr.2	+	16	2175	c.2052C>T	c.(2050-2052)CCC>CCT	p.P684P	ZMIZ2_uc003tlq.2_Silent_p.P626P|ZMIZ2_uc003tls.2_Silent_p.P658P|ZMIZ2_uc003tlt.2_Silent_p.P307P|ZMIZ2_uc010kyj.2_Silent_p.P206P|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	684					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						AGCCAGTGCCCGTGAAGCCTG	0.642		NA											14	37					0	0	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805102	44805102	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:44805102C>T	uc003tlr.2	+	16	2289	c.2166C>T	c.(2164-2166)GCC>GCT	p.A722A	ZMIZ2_uc003tlq.2_Silent_p.A664A|ZMIZ2_uc003tls.2_Silent_p.A696A|ZMIZ2_uc003tlt.2_Silent_p.A345A|ZMIZ2_uc010kyj.2_Silent_p.A244A|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	722					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TGATCGCCGCCCTGGGCCCCG	0.692		NA											10	22					0	0	0	0
MYO1G	64005	broad.mit.edu	37	7	45004019	45004019	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45004019G>A	uc003tmh.2	-	19	2770	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	MYO1G_uc003tmf.2_Missense_Mutation_p.R319C|MYO1G_uc003tmg.2_Missense_Mutation_p.R638C|MYO1G_uc010kym.2_Missense_Mutation_p.R761C	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	876				R->A: No effect on membrane localization.		myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CTAACCTTGCGGACATGGCTT	0.527		NA											19	59					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45650062	45650062	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45650062C>T	uc003tne.3	+	3	892	c.874C>T	c.(874-876)CAC>TAC	p.H292Y	ADCY1_uc003tnd.2_Missense_Mutation_p.H67Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	292	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTTCCACAAGATTTA	0.537		NA											45	99					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45743070	45743070	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:45743070C>T	uc003tne.3	+	15	2568	c.2550C>T	c.(2548-2550)CTC>CTT	p.L850L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	850	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGCACTTCCTCATGTCCAACC	0.637		NA											5	36					0	0	0	0
TNS3	64759	broad.mit.edu	37	7	47323382	47323382	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47323382G>A	uc003tnv.2	-	28	4377	c.4010C>T	c.(4009-4011)ACC>ATC	p.T1337I	TNS3_uc003tnw.2_Missense_Mutation_p.T1337I	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	1337						focal adhesion	protein binding			ovary(4)	4						CTGGACCAGGGTGATGCTCAG	0.577		NA											12	71					0	0	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842808	47842808	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:47842808C>T	uc003tny.1	-	53	7962	c.7962G>A	c.(7960-7962)GGG>GGA	p.G2654G	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2654	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GAGTTCTTACCCCTGCTACAA	0.453		NA											8	83					0	0	0	0
SUN3	256979	broad.mit.edu	37	7	48033956	48033956	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48033956G>A	uc003tof.2	-	9	914	c.817C>T	c.(817-819)CCG>TCG	p.P273S	SUN3_uc010kyq.2_Missense_Mutation_p.P173S|SUN3_uc003tog.2_Missense_Mutation_p.P273S|SUN3_uc011kcf.1_Missense_Mutation_p.P261S	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	273	SUN.					integral to membrane				central_nervous_system(1)	1						TTTCCTGACGGAGACACCTTC	0.453		NA											75	125					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48528921	48528921	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:48528921C>T	uc003toq.2	+	48	13296	c.13271C>T	c.(13270-13272)ACT>ATT	p.T4424I	ABCA13_uc010kys.1_Missense_Mutation_p.T1499I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.T154I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4424					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CTACCCCCTACTGTGGACTGG	0.343		NA											7	28					0	0	0	0
DDC	1644	broad.mit.edu	37	7	50605614	50605614	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:50605614C>T	uc003tpf.3	-	4	465	c.379G>A	c.(379-381)GAA>AAA	p.E127K	DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.E127K	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	127	2.|2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTTGGTAGTTCCAGCATCTTC	0.567		NA											24	76					0	0	0	0
ZNF479	90827	broad.mit.edu	37	7	57188704	57188704	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:57188704C>T	uc010kzo.2	-	5	689	c.418G>A	c.(418-420)GGA>AGA	p.G140R		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			CTATAACCTCCCTTGTGCACC	0.313		NA											34	155					0	0	0	0
CALN1	83698	broad.mit.edu	37	7	71488753	71488753	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:71488753C>T	uc003twa.3	-	4	791	c.264G>A	c.(262-264)GGG>GGA	p.G88G	CALN1_uc003twb.3_Silent_p.G130G|CALN1_uc003twc.3_Silent_p.G88G	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	88	2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCTGGCCATCCCCTGCAAGGA	0.458		NA											13	106					0	0	0	0
TBL2	26608	broad.mit.edu	37	7	72985181	72985181	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:72985181G>A	uc003tyh.2	-	7	1134	c.1000C>T	c.(1000-1002)CCG>TCG	p.P334S	TBL2_uc011kex.1_Missense_Mutation_p.P298S|TBL2_uc010lbg.2_Missense_Mutation_p.P239S|TBL2_uc003tyi.2_Missense_Mutation_p.P169S|TBL2_uc011key.1_Missense_Mutation_p.P205S|TBL2_uc010lbh.2_Missense_Mutation_p.P239S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	334	WD 6.										0		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCGGCACGGCGCGGCACCC	0.602		NA											20	87					0	0	0	0
EIF4H	7458	broad.mit.edu	37	7	73604022	73604022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:73604022C>T	uc003uad.1	+	3	275	c.267C>T	c.(265-267)TTC>TTT	p.F89F	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Silent_p.F89F|EIF4H_uc010lbm.2_Silent_p.F89F|EIF4H_uc003uae.1_Silent_p.F89F|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	89	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						ATGTAGAATTCGATGAAGTGG	0.408		NA											8	44					0	0	0	0
NCF1	653361	broad.mit.edu	37	7	74193715	74193715	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:74193715C>T	uc003ubb.2	+	4	412	c.342C>T	c.(340-342)CTC>CTT	p.L114L	NCF1_uc010lbs.1_Silent_p.L114L|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	114	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						GTCCCCACCTCCTCGACTTCT	0.522		NA											6	50					0	0	0	0
HIP1	3092	broad.mit.edu	37	7	75203141	75203141	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75203141G>A	uc003uds.1	-	8	711	c.670C>T	c.(670-672)CCG>TCG	p.P224S	HIP1_uc011kfz.1_Missense_Mutation_p.P101S	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TGGATCAGCGGGGCGAGGCGG	0.547		NA	T	PDGFRB	CMML								28	48					0	0	0	0
MDH2	4191	broad.mit.edu	37	7	75687336	75687336	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:75687336C>T	uc003ueo.2	+	4	455	c.369C>T	c.(367-369)ACC>ACT	p.T123T	MDH2_uc003uep.2_Silent_p.T16T|MDH2_uc011kgh.1_Silent_p.T123T	NM_005918	NP_005909	P40926	MDHM_HUMAN	mitochondrial malate dehydrogenase precursor	123					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					NADH(DB00157)	TTGTGGCCACCCTGACCGCTG	0.557		NA											9	45					0	0	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019433	76019433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019433C>T	uc003ufb.2	-	11	2019	c.1671G>A	c.(1669-1671)TGG>TGA	p.W557*	SRCRB4D_uc003ufa.2_Missense_Mutation_p.G59E	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	557	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						TGTGGGCATCCCAGCGGATAT	0.602		NA											9	98					0	0	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019439	76019439	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76019439G>A	uc003ufb.2	-	11	2013	c.1665C>T	c.(1663-1665)ATC>ATT	p.I555I	SRCRB4D_uc003ufa.2_Missense_Mutation_p.S57F	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	555	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						CATCCCAGCGGATATGAGAGC	0.612		NA											9	96					0	0	0	0
POMZP3	22932	broad.mit.edu	37	7	76240831	76240831	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:76240831C>T	uc003uft.2	-	6	1262	c.515G>A	c.(514-516)AGG>AAG	p.R172K	uc003ufs.1_Intron|POMZP3_uc003ufu.2_Intron|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	172											0		Myeloproliferative disorder(862;0.204)				AGGCTGCCTCCTGGAATGGCT	0.537		NA											17	19					0	0	0	0
MAGI2	9863	broad.mit.edu	37	7	78636502	78636502	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:78636502G>A	uc003ugx.2	-	2	576	c.322C>T	c.(322-324)CTT>TTT	p.L108F	MAGI2_uc003ugy.2_Missense_Mutation_p.L108F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	108						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTGACGAAGGTCTTTATCA	0.378		NA											10	63					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81381476	81381476	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381476C>T	uc003uhl.2	-	5	750	c.585G>A	c.(583-585)GAG>GAA	p.E195E	HGF_uc003uhm.2_Silent_p.E190E|HGF_uc003uhn.1_Silent_p.E195E|HGF_uc003uho.1_Silent_p.E190E|HGF_uc003uhp.2_Silent_p.E195E	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	195	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CGTAGCGTACCTCTGGATTGC	0.473		NA											33	69					0	0	0	0
HGF	3082	broad.mit.edu	37	7	81381563	81381563	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:81381563G>A	uc003uhl.2	-	5	663	c.498C>T	c.(496-498)AGC>AGT	p.S166S	HGF_uc003uhm.2_Silent_p.S161S|HGF_uc003uhn.1_Silent_p.S166S|HGF_uc003uho.1_Silent_p.S161S|HGF_uc003uhp.2_Silent_p.S166S	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	166	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						TACCCCGATAGCTCGAAGGCA	0.398		NA											8	74					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82544738	82544738	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544738C>A	uc003uhx.2	-	7	12853	c.12564G>T	c.(12562-12564)CAG>CAT	p.Q4188H	PCLO_uc003uhv.2_Missense_Mutation_p.Q4188H|PCLO_uc010lec.2_Missense_Mutation_p.Q1153H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4119					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TATGCTTTGACTGCTTTTGAT	0.348		NA											28	61					2.66e-16	2.75e-16	1	0
PCLO	27445	broad.mit.edu	37	7	82544869	82544869	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82544869G>T	uc003uhx.2	-	7	12722	c.12433C>A	c.(12433-12435)CTT>ATT	p.L4145I	PCLO_uc003uhv.2_Missense_Mutation_p.L4145I|PCLO_uc010lec.2_Missense_Mutation_p.L1110I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4076					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAATGAGAAAGACCAGCAAGG	0.398		NA											26	128					1.14e-10	1.17e-10	1	0
PCLO	27445	broad.mit.edu	37	7	82545878	82545878	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82545878C>T	uc003uhx.2	-	7	11713	c.11424G>A	c.(11422-11424)AGG>AGA	p.R3808R	PCLO_uc003uhv.2_Silent_p.R3808R|PCLO_uc010lec.2_Silent_p.R773R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3739					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGGCCTCTTTCCTCCTGTTAA	0.448		NA											12	74					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82586136	82586136	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:82586136G>A	uc003uhx.2	-	5	4422	c.4133C>T	c.(4132-4134)CCA>CTA	p.P1378L	PCLO_uc003uhv.2_Missense_Mutation_p.P1378L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1309					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AATAAGACTTGGAATTTCACC	0.448		NA											7	69					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636728	83636728	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:83636728C>T	uc003uhz.2	-	10	1396	c.1081G>A	c.(1081-1083)GGA>AGA	p.G361R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	361	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TAGTTGGGTCCATCCCTGTGG	0.433		NA											15	117					0	0	0	0
DMTF1	9988	broad.mit.edu	37	7	86803936	86803936	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:86803936C>T	uc003uih.2	+	7	796	c.470C>T	c.(469-471)TCC>TTC	p.S157F	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Missense_Mutation_p.S69F|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S157F|DMTF1_uc003uim.1_Missense_Mutation_p.S157F|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	157	Required for transcriptional activation (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					GGGATGTGGTCCAAGGAAGAA	0.299		NA											28	56					0	0	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459342	87459342	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:87459342C>T	uc003ujb.2	+	12	1830	c.1419C>T	c.(1417-1419)TCC>TCT	p.S473S	RUNDC3B_uc011khe.1_Silent_p.S456S|RUNDC3B_uc003ujc.2_Silent_p.S407S|RUNDC3B_uc003ujd.2_Silent_p.S329S	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	473										skin(1)	1	Esophageal squamous(14;0.00164)					TAACTCCATCCTGAAAATTTT	0.348		NA											9	75					0	0	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963669	88963669	+	Missense_Mutation	SNP	C	C	T	rs150650174		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:88963669C>T	uc011khi.1	+	4	1911	c.1373C>T	c.(1372-1374)CCT>CTT	p.P458L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	458						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTCAATGGCCTACGGAACTT	0.423		NA								HNSCC(36;0.09)			14	98					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91632538	91632538	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91632538A>T	uc003ulg.2	+	8	3532	c.3307A>T	c.(3307-3309)AAA>TAA	p.K1103*	AKAP9_uc003ule.2_Nonsense_Mutation_p.K1115*|AKAP9_uc003ulf.2_Nonsense_Mutation_p.K1103*|AKAP9_uc003uli.2_Nonsense_Mutation_p.K728*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1115	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATGTACTTAAATCAGAACA	0.318		NA	T	BRAF	papillary thyroid								26	59					0	0	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972502	91972502	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:91972502C>T	uc003ulw.2	+	6	1328	c.952C>T	c.(952-954)CCA>TCA	p.P318S		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	318							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTCACCTCCCCAGATGAAAT	0.448		NA											10	27					0	0	0	0
COL1A2	1278	broad.mit.edu	37	7	94034999	94034999	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94034999C>T	uc003ung.1	+	11	972	c.501C>T	c.(499-501)TTC>TTT	p.F167F	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_RNA	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	167					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCGTGGTTTCCCTGGAACTC	0.378		NA								HNSCC(75;0.22)			23	141					0	0	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919528	94919528	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:94919528G>A	uc003unp.2	+	16	3492	c.3210G>A	c.(3208-3210)AGG>AGA	p.R1070R	PPP1R9A_uc010lfj.2_Silent_p.R1346R|PPP1R9A_uc011kif.1_Silent_p.R1268R|PPP1R9A_uc003unq.2_Silent_p.R1225R|PPP1R9A_uc011kig.1_Silent_p.R1062R|PPP1R9A_uc003unr.2_Silent_p.R359R	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	1070	Potential.|Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAGCTAAGGAGAAAGGAGC	0.448		NA								HNSCC(28;0.073)			4	27					0	0	0	0
NPTX2	4885	broad.mit.edu	37	7	98257804	98257804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98257804G>A	uc003upl.2	+	5	1336	c.1159G>A	c.(1159-1161)GAA>AAA	p.E387K		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	387	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGCGCACAAGAAATTGTCAA	0.572		NA											4	12					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98501139	98501139	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:98501139C>T	uc003upp.2	+	12	1244	c.1035C>T	c.(1033-1035)AAC>AAT	p.N345N	TRRAP_uc011kis.1_Silent_p.N345N|TRRAP_uc003upr.2_Silent_p.N37N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	345					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTGAGAAACCGTACGTCCA	0.498		NA											15	105					0	0	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459380	99459380	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99459380G>A	uc003urx.1	+	11	1274	c.1171G>A	c.(1171-1173)GGG>AGG	p.G391R	CYP3A43_uc003ury.1_Missense_Mutation_p.G391R|CYP3A43_uc003urz.1_Missense_Mutation_p.G391R|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.G281R|CYP3A43_uc003usb.1_Missense_Mutation_p.G251R	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	391			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CATTCCCAAAGGGTTAGCAGT	0.453		NA											25	104					0	0	0	0
MCM7	4176	broad.mit.edu	37	7	99696750	99696750	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99696750A>G	uc003usw.1	-	5	988	c.478T>C	c.(478-480)TTG>CTG	p.L160L	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	160					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ACAGTTACCAACTTCCCCACA	0.527		NA											34	54					0	0	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998661	99998661	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:99998661G>A	uc003uut.2	-	18	2171	c.1923C>T	c.(1921-1923)TTC>TTT	p.F641F	ZCWPW1_uc011kjq.1_Silent_p.F521F|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Silent_p.F470F|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	641							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCCACGGGGAAGTCCTCGC	0.597		NA											6	35					0	0	0	0
C7orf47	221908	broad.mit.edu	37	7	100033362	100033362	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100033362G>A	uc003uuy.1	-	3	577	c.480C>T	c.(478-480)CTC>CTT	p.L160L	C7orf47_uc003uux.1_Silent_p.L58L	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	hypothetical protein LOC221908	160										ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCCCGGAAGAGCCGCTTGG	0.632		NA											6	12					0	0	0	0
FBXO24	26261	broad.mit.edu	37	7	100189332	100189332	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100189332G>A	uc003uvm.1	+	4	658	c.365G>A	c.(364-366)CGA>CAA	p.R122Q	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.R108Q|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.R160Q|FBXO24_uc011kka.1_Missense_Mutation_p.R110Q	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	122						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCGCCGCCGATGTCTCAGC	0.582		NA											13	81					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100350374	100350375	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100350374_100350375GG>AA	uc003uwj.2	+	14	2811_2812	c.2646_2647GG>AA	c.(2644-2649)ACGGAA>ACAAAA	p.E883K	ZAN_uc003uwk.2_Missense_Mutation_p.E883K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	883	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATCCCCACGGAAAAACCCAC	0.505		NA											28	98					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677450	100677450	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677450C>T	uc003uxp.1	+	3	2806	c.2753C>T	c.(2752-2754)ACT>ATT	p.T918I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	918	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					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)					CCAACCTCAACTCCTGGGGAA	0.507		NA											40	791					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100677989	100677989	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100677989G>A	uc003uxp.1	+	3	3345	c.3292G>A	c.(3292-3294)GAA>AAA	p.E1098K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1098	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.					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)					AACTTATAGTGAAGGAAGCAC	0.517		NA											79	777					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100678973	100678973	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100678973C>T	uc003uxp.1	+	3	4329	c.4276C>T	c.(4276-4278)CCT>TCT	p.P1426S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1426	Extracellular (Potential).|Ser-rich.|22.|59 X approximate tandem repeats.					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)					CACCAGCACCCCTGGGACCAC	0.498		NA											102	433					0	0	0	0
MUC17	140453	broad.mit.edu	37	7	100680999	100680999	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:100680999G>A	uc003uxp.1	+	3	6355	c.6302G>A	c.(6301-6303)AGT>AAT	p.S2101N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2101	Extracellular (Potential).|33.|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)					AGTGAAGGAAGTCCTCTACTA	0.507		NA											50	292					0	0	0	0
CUX1	1523	broad.mit.edu	37	7	101891804	101891804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:101891804G>A	uc003uyx.3	+	24	4038	c.4000G>A	c.(4000-4002)GAG>AAG	p.E1334K	CUX1_uc003uys.3_Missense_Mutation_p.E1345K|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1334					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						GCCCAGCTCGGAGGGCGACAG	0.721		NA											3	11					0	0	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377334	104377334	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:104377334G>A	uc003vce.2	+	2	782	c.658G>A	c.(658-660)GAG>AAG	p.E220K	LHFPL3_uc003vcf.2_Missense_Mutation_p.E220K	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	206						integral to membrane					0						CTTGATGGCAGAGGAACTGAA	0.443		NA											3	20					0	0	0	0
LAMB1	3912	broad.mit.edu	37	7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107603364G>A	uc003vew.2	-	15	2178	c.1843C>T	c.(1843-1845)CGC>TGC	p.R615C	LAMB1_uc003vev.2_Missense_Mutation_p.R639C|LAMB1_uc003vex.2_Missense_Mutation_p.R615C|LAMB1_uc010ljn.1_Missense_Mutation_p.R701C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	615	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGTAGCGAATTAGGATG	0.453		NA											16	100					0	0	0	0
NRCAM	4897	broad.mit.edu	37	7	107836218	107836218	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:107836218G>A	uc003vfb.2	-	15	1921	c.1450C>T	c.(1450-1452)CCA>TCA	p.P484S	NRCAM_uc003vfc.2_Missense_Mutation_p.P478S|NRCAM_uc011kmk.1_Missense_Mutation_p.P479S|NRCAM_uc003vfd.2_Missense_Mutation_p.P460S|NRCAM_uc003vfe.2_Missense_Mutation_p.P460S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	484	Ig-like 5.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TCGATGGTTGGGAGAGGAGAC	0.423		NA											4	23					0	0	0	0
IFRD1	3475	broad.mit.edu	37	7	112108061	112108061	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:112108061C>T	uc003vgh.2	+	10	1375	c.932C>T	c.(931-933)TCC>TTC	p.S311F	IFRD1_uc011kmn.1_Missense_Mutation_p.S261F|IFRD1_uc003vgj.2_Missense_Mutation_p.S311F|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Missense_Mutation_p.S261F|IFRD1_uc003vgk.2_Missense_Mutation_p.S28F	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	311					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						GACATGGAGTCCTTGACGCAG	0.408		NA											7	51					0	0	0	0
FOXP2	93986	broad.mit.edu	37	7	114284804	114284805	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:114284804_114284805GG>AA	uc003vhb.2	+	8	1428_1429	c.1054_1055GG>AA	c.(1054-1056)GGC>AAC	p.G352N	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.G377N|FOXP2_uc003vha.2_Missense_Mutation_p.G260N|FOXP2_uc011kmu.1_Missense_Mutation_p.G369N|FOXP2_uc011kmv.1_Missense_Mutation_p.G351N|FOXP2_uc010ljz.1_Missense_Mutation_p.G260N|FOXP2_uc003vgx.2_Missense_Mutation_p.G352N|FOXP2_uc003vhd.2_Missense_Mutation_p.G352N|FOXP2_uc003vhc.2_Missense_Mutation_p.G377N	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	352	C2H2-type.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CAAATGGCCAGGCTGTGAAAGC	0.455		NA											13	49					0	0	0	0
ST7	7982	broad.mit.edu	37	7	116759690	116759690	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:116759690C>T	uc003vin.2	+	3	524	c.310C>T	c.(310-312)CTT>TTT	p.L104F	ST7_uc011knl.1_Missense_Mutation_p.L104F|ST7_uc003vio.2_Missense_Mutation_p.L104F|ST7_uc003viq.2_Missense_Mutation_p.L58F|ST7_uc011knm.1_Missense_Mutation_p.L61F|ST7_uc003vir.2_Missense_Mutation_p.L52F|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.L52F|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	104						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCGCCCCCTTCTGGGAGG	0.418		NA											18	109					0	0	0	0
KCND2	3751	broad.mit.edu	37	7	120373073	120373073	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120373073G>T	uc003vjj.1	+	2	2197	c.1232G>T	c.(1231-1233)CGC>CTC	p.R411L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	411	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					AACTTCAGTCGCATCTACCAC	0.458		NA											21	56					9.63e-23	1e-22	1	0
ING3	54556	broad.mit.edu	37	7	120608018	120608018	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120608018C>T	uc003vjn.2	+	8	721	c.587C>T	c.(586-588)TCT>TTT	p.S196F	ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.S196F|ING3_uc011kns.1_Missense_Mutation_p.S181F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	196					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					ACAGCCTCTTCTAACAATGCC	0.388		NA											11	119					0	0	0	0
C7orf58	79974	broad.mit.edu	37	7	120782185	120782185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:120782185G>A	uc003vjq.3	+	16	2492	c.2045G>A	c.(2044-2046)GGT>GAT	p.G682D	C7orf58_uc003vjs.3_Missense_Mutation_p.G682D|C7orf58_uc003vjt.3_Missense_Mutation_p.G462D	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	682						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					ACAGCATGTGGTTTTGTGCAG	0.438		NA											43	93					0	0	0	0
LMOD2	442721	broad.mit.edu	37	7	123302483	123302483	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:123302483G>A	uc003vky.2	+	2	1000	c.843G>A	c.(841-843)ACG>ACA	p.T281T		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	281						cytoskeleton	actin binding|tropomyosin binding				0						ACTTCATAACGGGAAAGGGGA	0.552		NA											32	43					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126086395	126086395	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126086395G>A	uc003vlr.2	-	9	2773	c.2462C>T	c.(2461-2463)TCC>TTC	p.S821F	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S821F|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	821	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAAACTCATGGAGACAGTAAG	0.368		NA								HNSCC(24;0.065)			11	37					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126410011	126410011	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410011T>A	uc003vlr.2	-	6	1576	c.1265A>T	c.(1264-1266)GAT>GTT	p.D422V	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D422V|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.D143V	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	422	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGCAGAGATCTTTGTGCAT	0.413		NA								HNSCC(24;0.065)			18	60					0	0	0	0
GRM8	2918	broad.mit.edu	37	7	126410053	126410053	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:126410053G>A	uc003vlr.2	-	6	1534	c.1223C>T	c.(1222-1224)GCT>GTT	p.A408V	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A408V|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.A129V	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	408	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAATATACAGCATCAATTAC	0.423		NA								HNSCC(24;0.065)			13	37					0	0	0	0
CCDC136	64753	broad.mit.edu	37	7	128446882	128446882	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128446882G>A	uc003vnv.1	+	9	1756	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Silent_p.T410T|CCDC136_uc003vnx.1_Silent_p.T279T|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Silent_p.T73T	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	463						integral to membrane	protein binding			ovary(2)	2						TCAGGGATACGGTGGCCTCCT	0.552		NA											9	17					0	0	0	0
FLNC	2318	broad.mit.edu	37	7	128480173	128480173	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128480173G>A	uc003vnz.3	+	9	1717	c.1508G>A	c.(1507-1509)GGT>GAT	p.G503D	FLNC_uc003voa.3_Missense_Mutation_p.G503D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	503	Filamin 3.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TTTACCAAGGGTGCCGGCAGC	0.637		NA											52	90					0	0	0	0
IRF5	3663	broad.mit.edu	37	7	128582178	128582178	+	Missense_Mutation	SNP	G	G	A	rs142800920		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:128582178G>A	uc003vog.2	+	2	164	c.43G>A	c.(43-45)GTG>ATG	p.V15M	IRF5_uc010llr.1_Missense_Mutation_p.V15M|IRF5_uc011kot.1_Missense_Mutation_p.V15M|IRF5_uc011kou.1_Missense_Mutation_p.V15M|IRF5_uc010lls.1_Missense_Mutation_p.V15M|IRF5_uc003voh.2_Missense_Mutation_p.V15M|IRF5_uc010llt.2_Missense_Mutation_p.V15M|IRF5_uc003voi.2_Missense_Mutation_p.V15M|IRF5_uc010llu.1_Missense_Mutation_p.V15M|IRF5_uc003vok.2_Missense_Mutation_p.V15M|IRF5_uc003voj.3_Missense_Mutation_p.V15M|IRF5_uc010llv.1_Missense_Mutation_p.V15M|IRF5_uc010llw.1_Missense_Mutation_p.V15M	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	15	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						ACCCCGCCGCGTGCGGCTGAA	0.622		NA											11	60					0	0	0	0
PODXL	5420	broad.mit.edu	37	7	131190752	131190752	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131190752C>T	uc003vqw.3	-	8	1612	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	PODXL_uc003vqx.3_Missense_Mutation_p.E420K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	452	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TCGGCCTCCTCCGGTGGCCCC	0.647		NA											4	24					0	0	0	0
PODXL	5420	broad.mit.edu	37	7	131196154	131196154	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131196154G>A	uc003vqw.3	-	2	397	c.139C>T	c.(139-141)CCG>TCG	p.P47S	PODXL_uc003vqx.3_Missense_Mutation_p.P47S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	47	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					GCTGGAGTCGGTGCTGTTTTG	0.527		NA											27	109					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866195	131866195	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:131866195G>T	uc003vra.3	-	18	3666	c.3437C>A	c.(3436-3438)GCC>GAC	p.A1146D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1146	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGACCAAAGGCCTCAAACAC	0.582		NA											57	115					1.01e-23	1.05e-23	1	0
LRGUK	136332	broad.mit.edu	37	7	133812343	133812343	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:133812343G>A	uc003vrm.1	+	1	239	c.223G>A	c.(223-225)GAC>AAC	p.D75N		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	75							ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						GCTGGACTCGGACGGAGATGA	0.597		NA											9	56					0	0	0	0
CNOT4	4850	broad.mit.edu	37	7	135123021	135123021	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135123021G>A	uc003vsv.1	-	2	366	c.59C>T	c.(58-60)CCC>CTC	p.P20L	CNOT4_uc003vss.2_Missense_Mutation_p.P20L|CNOT4_uc011kpz.1_Missense_Mutation_p.P20L|CNOT4_uc003vst.2_Missense_Mutation_p.P20L|CNOT4_uc003vsu.1_Missense_Mutation_p.P20L|CNOT4_uc011kpy.1_Missense_Mutation_p.P20L	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	20	RING-type; degenerate.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						TATCTCCAAGGGCTCCATGCA	0.433		NA											16	33					0	0	0	0
NUP205	23165	broad.mit.edu	37	7	135292093	135292093	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:135292093C>T	uc003vsw.2	+	22	3200	c.3169C>T	c.(3169-3171)CCT>TCT	p.P1057S		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1057					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						GCGAGAATCTCCTCAGCTGGC	0.502		NA											10	44					0	0	0	0
DGKI	9162	broad.mit.edu	37	7	137154314	137154314	+	Missense_Mutation	SNP	G	G	C	rs150062419		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:137154314G>C	uc003vtt.2	-	25	2480	c.2479C>G	c.(2479-2481)CGG>GGG	p.R827G	DGKI_uc003vtu.2_Missense_Mutation_p.R527G	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	827					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						AAGCACCACCGAGGAGAGAGC	0.522		NA											26	56					0	0	0	0
TRPV6	55503	broad.mit.edu	37	7	142570156	142570156	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142570156C>T	uc003wbx.1	-	14	2080	c.1864G>A	c.(1864-1866)GAG>AAG	p.E622K	TRPV6_uc003wbw.1_Missense_Mutation_p.E408K|TRPV6_uc010lou.1_Missense_Mutation_p.E493K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	622	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					AGGCCATACTCCCGTCCGCAG	0.627		NA											7	29					0	0	0	0
TRPV6	55503	broad.mit.edu	37	7	142574508	142574508	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142574508C>T	uc003wbx.1	-	5	786	c.570G>A	c.(568-570)CGG>CGA	p.R190R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Silent_p.R61R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	190	ANK 4.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					AGTCCTGGGCCCGGATGTCAG	0.607		NA											22	58					0	0	0	0
OR6V1	346517	broad.mit.edu	37	7	142749631	142749631	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:142749631C>T	uc011ksv.1	+	1	194	c.194C>T	c.(193-195)TCC>TTC	p.S65F		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					GGCAATTTTTCCCTGCTGGAG	0.493		NA											105	176					0	0	0	0
FAM131B	9715	broad.mit.edu	37	7	143053832	143053832	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143053832C>T	uc003wct.2	-	6	2516	c.810G>A	c.(808-810)AGG>AGA	p.R270R	FAM131B_uc010loz.2_Silent_p.R238R|FAM131B_uc003wcu.3_Silent_p.R270R|FAM131B_uc010lpa.2_Silent_p.R298R	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	270											0	Melanoma(164;0.205)					CAGCAGGGCCCCTTGCCAGGT	0.627		NA											30	144					0	0	0	0
ZYX	7791	broad.mit.edu	37	7	143085984	143085984	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143085984C>T	uc003wcw.2	+	8	1594	c.1439C>T	c.(1438-1440)ACC>ATC	p.T480I	ZYX_uc011ktd.1_Missense_Mutation_p.T323I|ZYX_uc003wcx.2_Missense_Mutation_p.T480I|ZYX_uc011kte.1_Missense_Mutation_p.T449I|ZYX_uc011ktf.1_Missense_Mutation_p.T323I	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	480	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTGGAGGGCACCTCCTTCATC	0.667		NA											13	86					0	0	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140716	143140716	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143140716G>A	uc011ktg.1	+	1	171	c.171G>A	c.(169-171)AAG>AAA	p.K57K	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	57	Helical; Name=2; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					CTTGTGATAAGTTATTGGTTA	0.498		NA											35	69					0	0	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141134	143141134	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143141134C>T	uc011ktg.1	+	1	589	c.589C>T	c.(589-591)CTA>TTA	p.L197L	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	197	Helical; Name=5; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					TCTCTTCCCTCTAAAAATGAT	0.418		NA											62	155					0	0	0	0
FAM115A	9747	broad.mit.edu	37	7	143573412	143573412	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:143573412G>A	uc003wdo.1	-	2	423	c.290C>T	c.(289-291)TCC>TTC	p.S97F	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.S97F	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	97											0	Melanoma(164;0.0903)					AGGTGCCAGGGATGGGTGTAC	0.562		NA											19	77					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825806	146825806	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:146825806T>A	uc003weu.1	+	7	1477	c.961T>A	c.(961-963)TTC>ATC	p.F321I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	321	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGCATCCCTTTCTCTGGCAA	0.393		NA								HNSCC(39;0.1)			18	108					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112610	148112610	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148112610G>A	uc003weu.1	+	24	4414	c.3898G>A	c.(3898-3900)GGG>AGG	p.G1300R	CNTNAP2_uc003wev.1_Missense_Mutation_p.G77R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1300	Cytoplasmic (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGAAGCAAAGGGGGCGGAGTC	0.542		NA								HNSCC(39;0.1)			13	73					0	0	0	0
ZNF282	8427	broad.mit.edu	37	7	148909480	148909480	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:148909480C>T	uc003wfm.2	+	6	1088	c.983C>T	c.(982-984)TCC>TTC	p.S328F	ZNF282_uc011kun.1_Missense_Mutation_p.S328F|ZNF282_uc003wfn.2_Missense_Mutation_p.S268F|ZNF282_uc003wfo.2_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	328					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GACCTCTTGTCCCGGATTAAA	0.468		NA											10	26					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149477972	149477972	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149477972C>T	uc010lpk.2	+	13	1743	c.1743C>T	c.(1741-1743)TCC>TCT	p.S581S	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	581	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGCTACTCCTTCTGGGGTG	0.677		NA											6	39					0	0	0	0
SSPO	23145	broad.mit.edu	37	7	149494381	149494381	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149494381C>T	uc010lpk.2	+	47	6852	c.6852C>T	c.(6850-6852)ACC>ACT	p.T2284T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2284					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAAGACCCTGGCCCTCT	0.662		NA											6	52					0	0	0	0
ACTR3C	653857	broad.mit.edu	37	7	149986643	149986643	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:149986643G>A	uc003wgu.1	-	4	383	c.193C>T	c.(193-195)CCG>TCG	p.P65S		NM_001040135	NP_001035225	Q9C0K3	ARP3C_HUMAN	actin-related protein 3-beta isoform 2	65					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding				0						CCTGCAATCGGGATGTGTTTG	0.498		NA											7	27					0	0	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417539	150417539	+	Silent	SNP	C	C	T	rs150494282	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150417539C>T	uc003whq.2	+	3	534	c.447C>T	c.(445-447)ATC>ATT	p.I149I	GIMAP1_uc003whp.2_Silent_p.I157I	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	149	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGGTCATCGTCTTCACCA	0.642		NA											8	70					0	0	0	0
ABP1	26	broad.mit.edu	37	7	150554746	150554746	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150554746C>T	uc003why.1	+	3	5406	c.1188C>T	c.(1186-1188)ACC>ACT	p.T396T	ABP1_uc003whz.1_Silent_p.T396T|ABP1_uc003wia.1_Silent_p.T396T	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	396					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGACCGCCACCTTCCTGGACA	0.627		NA											16	97					0	0	0	0
KCNH2	3757	broad.mit.edu	37	7	150654554	150654554	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150654554G>A	uc003wic.2	-	5	966	c.953C>T	c.(952-954)TCC>TTC	p.S318F	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Missense_Mutation_p.S222F|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Missense_Mutation_p.S318F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	318	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTCCGAGGTGGAGTTGAGCAA	0.642		NA											7	33					0	0	0	0
FASTK	10922	broad.mit.edu	37	7	150774982	150774982	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150774982G>A	uc003wix.1	-	5	1121	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.F102F|FASTK_uc003wiy.1_Silent_p.F200F|FASTK_uc003wiz.1_Silent_p.F314F|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	341					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TGTAGTTGATGAAGCCAGGGG	0.622		NA											8	55					0	0	0	0
CHPF2	54480	broad.mit.edu	37	7	150934782	150934783	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:150934782_150934783CC>TT	uc003wjr.1	+	4	2847_2848	c.1334_1335CC>TT	c.(1333-1335)ACC>ATT	p.T445I	CHPF2_uc003wjq.1_Missense_Mutation_p.T437I|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	445	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						ATGGAGTACACCCTGGACCTGC	0.658		NA											12	62					0	0	0	0
WDR86	349136	broad.mit.edu	37	7	151093194	151093194	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151093194C>T	uc003wkb.2	-	3	843	c.394G>A	c.(394-396)GAG>AAG	p.E132K	WDR86_uc003wka.2_Missense_Mutation_p.E90K|WDR86_uc011kvk.1_Missense_Mutation_p.E132K|WDR86_uc003wkc.2_Missense_Mutation_p.E4K	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	132	WD 3.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCGGAACTCCCGGGACATC	0.677		NA											8	35					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	151874263	151874263	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:151874263A>C	uc003wla.2	-	38	8494	c.8275T>G	c.(8275-8277)TAT>GAT	p.Y2759D	MLL3_uc003wkz.2_Missense_Mutation_p.Y1820D|MLL3_uc003wky.2_Missense_Mutation_p.Y268D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2759	Asp-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGATCTGTATATGCAATGATA	0.368		NA	N		medulloblastoma								43	70					0	0	0	0
DPP6	1804	broad.mit.edu	37	7	154598806	154598806	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:154598806C>T	uc003wlk.2	+	16	1779	c.1650C>T	c.(1648-1650)TTC>TTT	p.F550F	DPP6_uc003wli.2_Silent_p.F486F|DPP6_uc003wlm.2_Silent_p.F488F|DPP6_uc011kvq.1_Silent_p.F443F	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	550	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGGACTTCTTCCTGCTCAAGT	0.602		NA											24	101					0	0	0	0
WDR60	55112	broad.mit.edu	37	7	158672676	158672676	+	Missense_Mutation	SNP	C	C	T	rs17856461		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:158672676C>T	uc003woe.3	+	5	1033	c.875C>T	c.(874-876)TCC>TTC	p.S292F	WDR60_uc010lqv.2_RNA	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	292				S -> F (in Ref. 2; AAH14491).						ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGGGAATCCCAGGTACCC	0.527		NA											10	51					0	0	0	0
MYOM2	9172	broad.mit.edu	37	8	2021531	2021531	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2021531C>T	uc003wpx.3	+	10	1209	c.1071C>T	c.(1069-1071)ATC>ATT	p.I357I	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	357	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCTGCGCATCGTGTCTCGGG	0.627		NA											23	35					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2830813	2830813	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:2830813G>A	uc011kwk.1	-	57	9142	c.8752C>T	c.(8752-8754)CCT>TCT	p.P2918S	CSMD1_uc011kwj.1_Missense_Mutation_p.P2247S|CSMD1_uc010lrg.2_Missense_Mutation_p.P928S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2918	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGAATCCAGGATTATTTCCT	0.428		NA											87	160					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	3019763	3019763	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:3019763G>A	uc011kwk.1	-	38	6155	c.5765C>T	c.(5764-5766)CCC>CTC	p.P1922L	CSMD1_uc011kwj.1_Missense_Mutation_p.P1314L|CSMD1_uc003wqe.2_Missense_Mutation_p.P1078L|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1922	Sushi 11.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTTGCTGGGGAGGGCTGG	0.458		NA											9	7					0	0	0	0
SGK223	157285	broad.mit.edu	37	8	8235533	8235533	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8235533G>A	uc003wsh.3	-	2	386	c.386C>T	c.(385-387)CCC>CTC	p.P129L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	129							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTAGACGACGGGGGCATCCTC	0.572		NA											27	77					0	0	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998678	8998678	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:8998678T>A	uc003wsn.3	-	2	649	c.484A>T	c.(484-486)ATA>TTA	p.I162L	PPP1R3B_uc003wso.3_Missense_Mutation_p.I161L	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	162	CBM21.				glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GTCATCCTTATTTTCACGGTC	0.512		NA											80	122					0	0	0	0
RP1L1	94137	broad.mit.edu	37	8	10465958	10465958	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10465958G>T	uc003wtc.2	-	4	5879	c.5650C>A	c.(5650-5652)CAG>AAG	p.Q1884K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1884					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GACTCTGGCTGGGCCTCTCCT	0.622		NA											55	303					3.86e-42	4.02e-42	1	0
RP1L1	94137	broad.mit.edu	37	8	10466645	10466645	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10466645C>T	uc003wtc.2	-	4	5192	c.4963G>A	c.(4963-4965)GAG>AAG	p.E1655K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1655					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGACAGAACTCCTCCCCCTCC	0.667		NA											10	61					0	0	0	0
RP1L1	94137	broad.mit.edu	37	8	10470364	10470364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:10470364G>A	uc003wtc.2	-	4	1473	c.1244C>T	c.(1243-1245)TCC>TTC	p.S415F		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	415					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTCTCCCTGGGAGGCATGCAG	0.677		NA											31	46					0	0	0	0
AMAC1L2	83650	broad.mit.edu	37	8	11189365	11189365	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11189365C>T	uc003wtp.1	+	1	871	c.750C>T	c.(748-750)CTC>CTT	p.L250L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	250	Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)		CCAGTGACCTCCTGAGTTGGA	0.637		NA											11	106					0	0	0	0
FDFT1	2222	broad.mit.edu	37	8	11667353	11667353	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:11667353C>T	uc003wui.2	+	3	527	c.375C>T	c.(373-375)TTC>TTT	p.F125F	FDFT1_uc003wuh.2_Silent_p.F61F|FDFT1_uc010lsa.1_Silent_p.F40F|FDFT1_uc011kxe.1_Silent_p.F61F|FDFT1_uc011kxf.1_Silent_p.F125F|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Silent_p.F118F|FDFT1_uc010lsb.2_Silent_p.F61F|FDFT1_uc011kxh.1_Silent_p.F61F|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Silent_p.F61F|FDFT1_uc003wuk.2_Silent_p.F184F|FDFT1_uc011kxk.1_Silent_p.F40F	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	125					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGGAGGACTTCCCAACGGTGA	0.502		NA											7	31					0	0	0	0
MSR1	4481	broad.mit.edu	37	8	16026297	16026297	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:16026297T>A	uc003wwz.2	-	4	498	c.300A>T	c.(298-300)AAA>AAT	p.K100N	MSR1_uc010lsu.2_Missense_Mutation_p.K118N|MSR1_uc003wxa.2_Missense_Mutation_p.K100N|MSR1_uc003wxb.2_Missense_Mutation_p.K100N|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	100	Spacer (Probable).|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGTCATTTCCTTTTCCCGTGA	0.373		NA											23	135					0	0	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053076	17053076	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:17053076G>A	uc003wxe.2	+	4	713	c.316G>A	c.(316-318)GAA>AAA	p.E106K		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	106						integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGCCCATCAGGAAGTTCTTAG	0.408		NA											13	62					0	0	0	0
GFRA2	2675	broad.mit.edu	37	8	21562583	21562583	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21562583G>A	uc003wzu.1	-	6	1634	c.959C>T	c.(958-960)TCC>TTC	p.S320F	GFRA2_uc003wzv.1_Missense_Mutation_p.S215F|GFRA2_uc003wzw.1_Missense_Mutation_p.S187F	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	320						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCACCAGGGGGACACCACGAT	0.592		NA											3	14					0	0	0	0
EPB49	2039	broad.mit.edu	37	8	21925103	21925103	+	Silent	SNP	C	C	T	rs140385917	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21925103C>T	uc011kyt.1	+	4	388	c.159C>T	c.(157-159)ATC>ATT	p.I53I	EPB49_uc010ltl.2_Silent_p.I53I|EPB49_uc011kys.1_Silent_p.I28I|EPB49_uc010ltn.2_Silent_p.I28I|EPB49_uc011kyu.1_Silent_p.I53I|EPB49_uc011kyv.1_Silent_p.I53I|EPB49_uc010ltq.2_Silent_p.I53I	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	53					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		ACAAGGCCATCCTGGACATCG	0.612		NA											13	58					0	0	0	0
NUDT18	79873	broad.mit.edu	37	8	21965715	21965715	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:21965715G>A	uc003xaq.1	-	5	424	c.305C>T	c.(304-306)CCC>CTC	p.P102L	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	102	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CAGTGTCTCGGGCTCACAGTG	0.682		NA											3	16					0	0	0	0
SLC39A14	23516	broad.mit.edu	37	8	22262322	22262322	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:22262322G>A	uc003xbq.3	+	2	274	c.99G>A	c.(97-99)CTG>CTA	p.L33L	SLC39A14_uc011kzg.1_Silent_p.L33L|SLC39A14_uc003xbp.3_Silent_p.L33L|SLC39A14_uc011kzh.1_Silent_p.L33L	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter),	33	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity				0				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTTCATCCCTGGGTGCACCAG	0.602		NA											22	105					0	0	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429112	23429113	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:23429112_23429113CC>TT	uc003xdo.2	+	4	914_915	c.761_762CC>TT	c.(760-762)CCC>CTT	p.P254L	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	254	Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GCCACGACCCCCCTGGACGTCT	0.668		NA											3	25					0	0	0	0
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24324313G>A	uc003xeb.2	+	6	504	c.391G>A	c.(391-393)GGA>AGA	p.G131R	ADAM7_uc003xea.1_Missense_Mutation_p.G131R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	131	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCTACAGGGGATTCTTCAG	0.378		NA											11	59					0	0	0	0
ADAM7	8756	broad.mit.edu	37	8	24350689	24350689	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:24350689G>A	uc003xeb.2	+	16	1902	c.1789G>A	c.(1789-1791)GAT>AAT	p.D597N	ADAM7_uc003xec.2_Missense_Mutation_p.D369N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	597	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTATACCATGATTCTACAGA	0.403		NA											18	36					0	0	0	0
SCARA3	51435	broad.mit.edu	37	8	27516190	27516190	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27516190C>T	uc003xga.1	+	5	644	c.503C>T	c.(502-504)TCC>TTC	p.S168F	SCARA3_uc003xgb.1_Missense_Mutation_p.S168F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	168	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612		NA											10	57					0	0	0	0
C8orf80	389643	broad.mit.edu	37	8	27880848	27880848	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:27880848C>T	uc003xgm.3	-	19	2520	c.2377G>A	c.(2377-2379)GGG>AGG	p.G793R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	793						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		AGTGATGTCCCGGGGGGGCCA	0.493		NA											8	29					0	0	0	0
EXTL3	2137	broad.mit.edu	37	8	28574958	28574958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:28574958C>T	uc003xgz.1	+	3	1975	c.1382C>T	c.(1381-1383)CCG>CTG	p.P461L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	461	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGTGCCGTCCCGGTGGTGCTG	0.622		NA											15	32					0	0	0	0
UNC5D	137970	broad.mit.edu	37	8	35583804	35583804	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:35583804G>A	uc003xjr.1	+	10	1766	c.1438G>A	c.(1438-1440)GAC>AAC	p.D480N	UNC5D_uc003xjs.1_Missense_Mutation_p.D475N|UNC5D_uc003xju.1_Missense_Mutation_p.D56N|UNC5D_uc003xjt.1_Missense_Mutation_p.D238N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	480	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)		CCCTTTGTCGGACATCAAAGT	0.522		NA											7	30					0	0	0	0
KCNU1	157855	broad.mit.edu	37	8	36644890	36644890	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:36644890C>T	uc010lvw.2	+	2	349	c.262C>T	c.(262-264)CGT>TGT	p.R88C	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	88	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGGACAATTTCGTGATCATAT	0.428		NA											9	24					0	0	0	0
MYST3	7994	broad.mit.edu	37	8	41798814	41798814	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:41798814G>A	uc010lxb.2	-	16	3129	c.2585C>T	c.(2584-2586)CCA>CTA	p.P862L	MYST3_uc010lxc.2_Missense_Mutation_p.P862L|MYST3_uc003xon.3_Missense_Mutation_p.P862L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	862					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CCTCCGAGATGGCTGGCTATT	0.468		NA											17	96					0	0	0	0
PLAT	5327	broad.mit.edu	37	8	42038041	42038041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42038041C>T	uc003xos.2	-	10	1261	c.1052G>A	c.(1051-1053)TGG>TAG	p.W351*	PLAT_uc010lxf.1_Nonsense_Mutation_p.W268*|PLAT_uc010lxg.1_Nonsense_Mutation_p.W176*|PLAT_uc003xot.2_Nonsense_Mutation_p.W305*|PLAT_uc011lcm.1_Nonsense_Mutation_p.W262*|PLAT_uc011lcn.1_Nonsense_Mutation_p.W225*	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	351	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGAGAGAATCCAGCAGGAGCT	0.607		NA											21	86					0	0	0	0
DKK4	27121	broad.mit.edu	37	8	42234519	42234519	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42234519G>A	uc003xpb.2	-	1	156	c.45C>T	c.(43-45)CCC>CCT	p.P15P		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	15					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAGCTCCCAGGGGAGAGCAGA	0.657		NA											4	53					0	0	0	0
CHRNB3	1142	broad.mit.edu	37	8	42585737	42585737	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:42585737G>A	uc003xpi.1	+	4	378	c.250G>A	c.(250-252)GAA>AAA	p.E84K		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	84	Extracellular (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTCATGCAGGAATGGACAGA	0.378		NA											23	35					0	0	0	0
SNAI2	6591	broad.mit.edu	37	8	49832560	49832560	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:49832560G>A	uc003xqp.2	-	2	684	c.520C>T	c.(520-522)CTG>TTG	p.L174L		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	174	C2H2-type 2.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGCATCTTCAGGGCGCCCAGG	0.488		NA											14	77					0	0	0	0
SDCBP	6386	broad.mit.edu	37	8	59492285	59492285	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:59492285G>T	uc003xtn.2	+	7	832	c.682G>T	c.(682-684)GCC>TCC	p.A228S	SDCBP_uc003xto.2_Missense_Mutation_p.A227S|SDCBP_uc003xtr.2_Missense_Mutation_p.A227S|SDCBP_uc003xtp.2_Missense_Mutation_p.A222S|SDCBP_uc003xtq.2_Missense_Mutation_p.A228S|SDCBP_uc003xts.2_Missense_Mutation_p.A234S|SDCBP_uc011led.1_Missense_Mutation_p.A169S	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	228	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TAGCTCTGCAGCCAGAAATGG	0.393		NA											49	76					8e-19	8.3e-19	1	0
CA8	767	broad.mit.edu	37	8	61121414	61121414	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:61121414C>T	uc003xtz.1	-	8	1051	c.803G>A	c.(802-804)GGG>GAG	p.G268E	CA8_uc003xua.1_Missense_Mutation_p.G268E	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	268					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCCCAAAATCCCATCACAGCC	0.428		NA											28	53					0	0	0	0
ASPH	444	broad.mit.edu	37	8	62475388	62475388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:62475388G>A	uc003xuj.2	-	18	1621	c.1352C>T	c.(1351-1353)CCC>CTC	p.P451L	ASPH_uc011leg.1_Missense_Mutation_p.P422L|ASPH_uc003xuo.2_Missense_Mutation_p.P432L	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	451	Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGTATCATTGGGAAATAGTTG	0.353		NA											26	111					0	0	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528305	65528305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:65528305G>A	uc003xvj.2	-	3	997	c.793C>T	c.(793-795)CAA>TAA	p.Q265*		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	265					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCTGCTTTGAAAAACTTCT	0.363		NA											47	216					0	0	0	0
TRIM55	84675	broad.mit.edu	37	8	67040642	67040642	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:67040642G>A	uc003xvv.2	+	2	498	c.272G>A	c.(271-273)GGG>GAG	p.G91E	TRIM55_uc003xvu.2_Missense_Mutation_p.G91E|TRIM55_uc003xvw.2_Missense_Mutation_p.G91E|TRIM55_uc003xvx.2_Missense_Mutation_p.G91E	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	91						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAGACATGGGGTATATGGA	0.498		NA											26	150					0	0	0	0
PREX2	80243	broad.mit.edu	37	8	69031678	69031678	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69031678C>T	uc003xxv.1	+	28	3460	c.3433C>T	c.(3433-3435)CCC>TCC	p.P1145S		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1145					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						TGATGAACTTCCCTTAAGTGT	0.318		NA											17	80					0	0	0	0
C8orf34	116328	broad.mit.edu	37	8	69633671	69633671	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:69633671C>T	uc010lyz.2	+	10	1194	c.1145C>T	c.(1144-1146)CCT>CTT	p.P382L	C8orf34_uc003xyb.2_Missense_Mutation_p.P357L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	382					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTAACAGGACCTGTAAGTATA	0.279		NA											5	35					0	0	0	0
PRDM14	63978	broad.mit.edu	37	8	70970904	70970904	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:70970904G>A	uc003xym.2	-	6	1559	c.1357C>T	c.(1357-1359)CAT>TAT	p.H453Y		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	453	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCATGAACATGAAGAATGTGG	0.532		NA											19	46					0	0	0	0
STAU2	27067	broad.mit.edu	37	8	74529566	74529566	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:74529566T>A	uc003xzm.2	-	7	767	c.531A>T	c.(529-531)CAA>CAT	p.Q177H	STAU2_uc011lfg.1_Missense_Mutation_p.Q5H|STAU2_uc003xzn.2_Missense_Mutation_p.Q145H|STAU2_uc011lfh.1_Missense_Mutation_p.Q73H|STAU2_uc003xzo.2_Missense_Mutation_p.Q177H|STAU2_uc003xzp.2_Missense_Mutation_p.Q145H|STAU2_uc011lfi.1_Missense_Mutation_p.Q139H|STAU2_uc003xzq.2_Translation_Start_Site|STAU2_uc010lzk.2_Missense_Mutation_p.Q145H|STAU2_uc010lzl.1_Missense_Mutation_p.Q5H	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	177	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCTGCAGTGCTTGGAGGGCTT	0.433		NA											24	46					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764288	77764288	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77764288C>T	uc003yav.2	+	10	5383	c.4996C>T	c.(4996-4998)CCT>TCT	p.P1666S	ZFHX4_uc003yau.1_Missense_Mutation_p.P1711S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1666S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1666	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCTTTCAGCCTCAGTTTCT	0.453		NA								HNSCC(33;0.089)			16	73					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766126	77766126	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:77766126G>A	uc003yav.2	+	10	7221	c.6834G>A	c.(6832-6834)AGG>AGA	p.R2278R	ZFHX4_uc003yau.1_Silent_p.R2323R|ZFHX4_uc003yaw.1_Silent_p.R2278R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2278	C2H2-type 15; degenerate.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398		NA								HNSCC(33;0.089)			29	72					0	0	0	0
ZNF704	619279	broad.mit.edu	37	8	81733814	81733814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:81733814G>A	uc003yby.1	-	2	248	c.16C>T	c.(16-18)CAG>TAG	p.Q6*		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	6						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCCTCTGACTGAAATGTGAAG	0.408		NA											63	145					0	0	0	0
E2F5	1875	broad.mit.edu	37	8	86114445	86114445	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:86114445G>A	uc003ycz.3	+	2	335	c.298G>A	c.(298-300)GGA>AGA	p.G100R	E2F5_uc003yda.3_Missense_Mutation_p.G100R|E2F5_uc010mab.2_5'UTR	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	100	Potential.|DEF box.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						TGTCTTAGAGGGAATTGACTT	0.388		NA											4	42					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885084	88885084	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:88885084G>A	uc003ydz.2	-	1	1213	c.1116C>T	c.(1114-1116)CTC>CTT	p.L372L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	372										ovary(1)	1						GGAAGCCCCCGAGGCGAGAAG	0.592		NA											23	51					0	0	0	0
MMP16	4325	broad.mit.edu	37	8	89179964	89179964	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:89179964C>T	uc003yeb.3	-	4	925	c.643G>A	c.(643-645)GGA>AGA	p.G215R	MMP16_uc003yec.2_Missense_Mutation_p.G215R	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	215	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CCTCCAATTCCTGGTCCAGGG	0.418		NA											10	46					0	0	0	0
GEM	2669	broad.mit.edu	37	8	95262787	95262787	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95262787G>A	uc003ygj.2	-	5	891	c.642C>T	c.(640-642)GAC>GAT	p.D214D	GEM_uc003ygi.2_Silent_p.D214D	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	214					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			lung(1)	1	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGAACTTGCAGTCAAACACCA	0.562		NA											12	24					0	0	0	0
ESRP1	54845	broad.mit.edu	37	8	95653671	95653671	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:95653671A>G	uc003ygq.3	+	1	308	c.125A>G	c.(124-126)AAC>AGC	p.N42S	ESRP1_uc003ygr.3_Missense_Mutation_p.N42S|ESRP1_uc003ygs.3_Missense_Mutation_p.N42S|ESRP1_uc003ygt.3_Missense_Mutation_p.N42S|ESRP1_uc003ygu.3_Missense_Mutation_p.N42S	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	42					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GATCTGGCCAACAAGAAGGTA	0.522		NA											35	81					0	0	0	0
PGCP	10404	broad.mit.edu	37	8	98155359	98155359	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98155359C>T	uc003yhw.2	+	8	1533	c.1367C>T	c.(1366-1368)GCT>GTT	p.A456V		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	456					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					GCTGTTTGGGCTGTTGTTTCT	0.443		NA											9	89					0	0	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289088	98289089	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:98289088_98289089GG>AA	uc003yhy.2	-	1	1088_1089	c.984_985CC>TT	c.(982-987)ATCCAG>ATTTAG	p.Q329*		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	329					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					GGGAGCCACTGGATTGGAGTAG	0.495		NA											14	78					0	0	0	0
SPAG1	6674	broad.mit.edu	37	8	101174571	101174571	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:101174571C>T	uc003yjh.1	+	2	149	c.63C>T	c.(61-63)CCC>CCT	p.P21P	SPAG1_uc003yjg.1_Silent_p.P21P|SPAG1_uc003yji.1_Silent_p.P21P	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	21					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCAAAATTCCCATTGAACATC	0.294		NA											5	22					0	0	0	0
GRHL2	79977	broad.mit.edu	37	8	102570885	102570885	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:102570885C>T	uc010mbu.2	+	4	853	c.523C>T	c.(523-525)CCC>TCC	p.P175S	GRHL2_uc011lhi.1_Missense_Mutation_p.P175S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	175						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGTGCACTATCCCCGGGGAGA	0.562		NA											28	54					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103310705	103310705	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103310705C>T	uc003ykr.1	-	26	3372	c.3339G>A	c.(3337-3339)GGG>GGA	p.G1113G	UBR5_uc003yks.1_Silent_p.G1113G	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1113					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGGGGTCATCCCTCTTGCAT	0.299		NA											13	37					0	0	0	0
ODF1	4956	broad.mit.edu	37	8	103573017	103573017	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:103573017C>T	uc003ykt.2	+	2	766	c.658C>T	c.(658-660)CCC>TCC	p.P220S		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	220	C-X-P repeat region.		Missing.		cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cccctgcaacccctgcagccc	0.328		NA											20	71					0	0	0	0
RIMS2	9699	broad.mit.edu	37	8	104940078	104940078	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:104940078C>T	uc003yls.2	+	9	1780	c.1539C>T	c.(1537-1539)AGC>AGT	p.S513S	RIMS2_uc003ylp.2_Silent_p.S735S|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGCCAAAGCCTTAGTAGAA	0.229		NA								HNSCC(12;0.0054)			8	21					0	0	0	0
ABRA	137735	broad.mit.edu	37	8	107782215	107782215	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:107782215G>A	uc003ymm.3	-	1	258	c.204C>T	c.(202-204)CCC>CCT	p.P68P		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	68					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGAAGTAGGGGGTGTGATTG	0.587		NA											39	72					0	0	0	0
TRHR	7201	broad.mit.edu	37	8	110131279	110131279	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110131279C>T	uc003ymz.3	+	2	808	c.792C>T	c.(790-792)GTC>GTT	p.V264V		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	264	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTCCCTAGGTCACCAAGATGC	0.393		NA											100	220					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416808	110416808	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110416808G>A	uc003yne.2	+	15	1503	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	467	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTGCTGCAGGAGTACAGATT	0.308		NA								HNSCC(38;0.096)			10	25					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520013	110520013	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:110520013G>A	uc003yne.2	+	69	11220	c.11116G>A	c.(11116-11118)GAA>AAA	p.E3706K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3706	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCAGAATATGAATGGGACGG	0.433		NA								HNSCC(38;0.096)			20	117					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113299443	113299443	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113299443T>C	uc003ynu.2	-	58	9340	c.9181A>G	c.(9181-9183)ACT>GCT	p.T3061A	CSMD3_uc003yns.2_Missense_Mutation_p.T2263A|CSMD3_uc003ynt.2_Missense_Mutation_p.T3021A|CSMD3_uc011lhx.1_Missense_Mutation_p.T2892A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3061	Extracellular (Potential).|Sushi 22.					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						TGGCCGGGAGTACCTGGATCG	0.423		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	90					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113697955	113697955	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697955C>A	uc003ynu.2	-	15	2321	c.2162G>T	c.(2161-2163)TGC>TTC	p.C721F	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.C681F|CSMD3_uc011lhx.1_Missense_Mutation_p.C617F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	721	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						GTTAGACAGGCAGGGAACTGG	0.313		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	81					1.03e-11	1.06e-11	1	0
CSMD3	114788	broad.mit.edu	37	8	113697958	113697958	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:113697958G>A	uc003ynu.2	-	15	2318	c.2159C>T	c.(2158-2160)CCC>CTC	p.P720L	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.P680L|CSMD3_uc011lhx.1_Missense_Mutation_p.P616L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	720	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGACAGGCAGGGAACTGGTGA	0.318		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	78					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	114326862	114326862	+	Silent	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:114326862T>C	uc003ynu.2	-	2	498	c.339A>G	c.(337-339)GAA>GAG	p.E113E	CSMD3_uc003ynt.2_Silent_p.E73E|CSMD3_uc011lhx.1_Silent_p.E113E|CSMD3_uc010mcx.1_Silent_p.E113E|CSMD3_uc003ynx.3_Silent_p.E113E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	113	Extracellular (Potential).|CUB 1.					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						CGTATTCTTCTTCTAGAGCAA	0.343		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			44	91					0	0	0	0
MED30	90390	broad.mit.edu	37	8	118542972	118542972	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:118542972C>T	uc003yoj.2	+	3	498	c.347C>T	c.(346-348)CCA>CTA	p.P116L	MED30_uc011lib.1_Intron	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	116					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CAACTTATTCCATATGTGGAA	0.348		NA											15	35					0	0	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945375	119945375	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:119945375G>A	uc003yon.3	-	2	518	c.195C>T	c.(193-195)TGC>TGT	p.C65C	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	65	TNFR-Cys 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGTGGTCAGGGCAAGGGGCGC	0.527		NA											84	174					0	0	0	0
MAL2	114569	broad.mit.edu	37	8	120252438	120252438	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:120252438T>C	uc003yop.2	+	4	439	c.337T>C	c.(337-339)TAT>CAT	p.Y113H		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	MAL2 proteolipid protein	113	MARVEL.|Helical; (Potential).					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding				0	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATTTGTCTTCTATTTTGGAGC	0.358		NA											39	79					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121381580	121381580	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:121381580G>A	uc003yox.2	+	47	5432	c.5167G>A	c.(5167-5169)GAG>AAG	p.E1723K	COL14A1_uc003yoz.2_Missense_Mutation_p.E688K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1723	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCTTCAGGGGAGAGTCGGCC	0.562		NA											10	88					0	0	0	0
HAS2	3037	broad.mit.edu	37	8	122626849	122626849	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:122626849G>A	uc003yph.2	-	4	1697	c.1159C>T	c.(1159-1161)CCT>TCT	p.P387S		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	387	Helical; Name=3; (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGAAAGAAAGGAAAGAATCCA	0.423		NA											12	105					0	0	0	0
SQLE	6713	broad.mit.edu	37	8	126011730	126011730	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:126011730C>T	uc011liq.1	+	1	1011	c.85C>T	c.(85-87)CTG>TTG	p.L29L		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	29	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CAGGGAGGTCCTGTTGTGCGT	0.572		NA											10	29					0	0	0	0
ADCY8	114	broad.mit.edu	37	8	131792678	131792678	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131792678A>G	uc003ytd.3	-	18	3970	c.3714T>C	c.(3712-3714)CCT>CCC	p.P1238P	ADCY8_uc010mds.2_Silent_p.P1107P	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1238	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTGGGCTCCAGGCTCTGTGC	0.393		NA								HNSCC(32;0.087)			42	62					0	0	0	0
ADCY8	114	broad.mit.edu	37	8	131797639	131797639	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:131797639G>A	uc003ytd.3	-	16	3399	c.3143C>T	c.(3142-3144)CCT>CTT	p.P1048L	ADCY8_uc010mds.2_Missense_Mutation_p.P917L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1048	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTTTTTCAGGTGACAGGCC	0.498		NA								HNSCC(32;0.087)			13	80					0	0	0	0
EFR3A	23167	broad.mit.edu	37	8	132982751	132982751	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132982751C>T	uc003yte.2	+	10	1221	c.1020C>T	c.(1018-1020)ACC>ACT	p.T340T		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	340						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTCAATACCCTTTTGAAAC	0.383		NA											18	33					0	0	0	0
EFR3A	23167	broad.mit.edu	37	8	132999915	132999915	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:132999915G>A	uc003yte.2	+	18	2232	c.2031G>A	c.(2029-2031)GAG>GAA	p.E677E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	677						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGTGTTGAGAGATTGTCAG	0.373		NA											5	12					0	0	0	0
TG	7038	broad.mit.edu	37	8	133899039	133899039	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133899039G>A	uc003ytw.2	+	9	1463	c.1422G>A	c.(1420-1422)GGG>GGA	p.G474G		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	474					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTTTGGAGGGAAATTTTTGG	0.468		NA											17	108					0	0	0	0
TG	7038	broad.mit.edu	37	8	133984060	133984060	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:133984060G>A	uc003ytw.2	+	33	6038	c.5997G>A	c.(5995-5997)CGG>CGA	p.R1999R	TG_uc010mdw.2_Silent_p.R758R|TG_uc011ljb.1_Silent_p.R368R|TG_uc011ljc.1_Silent_p.R153R	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1999	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAACGACGGTGCGATGCGG	0.403		NA											22	35					0	0	0	0
TG	7038	broad.mit.edu	37	8	134144090	134144090	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134144090G>A	uc003ytw.2	+	46	7938	c.7897G>A	c.(7897-7899)GGG>AGG	p.G2633R	TG_uc010mdw.2_Missense_Mutation_p.G1392R|TG_uc011ljb.1_Missense_Mutation_p.G1002R|TG_uc011ljc.1_Missense_Mutation_p.G766R	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2633					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGCCTTGGGGCTTCCCTT	0.488		NA											33	61					0	0	0	0
TG	7038	broad.mit.edu	37	8	134147017	134147017	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:134147017C>T	uc003ytw.2	+	48	8327	c.8286C>T	c.(8284-8286)GGC>GGT	p.G2762G	TG_uc010mdw.2_Silent_p.G1521G|TG_uc011ljb.1_Silent_p.G1131G|TG_uc011ljc.1_Silent_p.G895G	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2762					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGAACCAGGCTCTAAGACCT	0.537		NA											18	24					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139158208	139158208	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139158208C>T	uc003yuy.2	-	15	3705	c.3534G>A	c.(3532-3534)AAG>AAA	p.K1178K	FAM135B_uc003yux.2_Silent_p.K1079K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.K740K|FAM135B_uc003yvb.2_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1178										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATACCTGATTCTTTTCAGACA	0.428		NA								HNSCC(54;0.14)			16	130					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164563G>A	uc003yuy.2	-	13	2326	c.2155C>T	c.(2155-2157)CGA>TGA	p.R719*	FAM135B_uc003yux.2_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.2_Nonsense_Mutation_p.R281*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	719										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567		NA								HNSCC(54;0.14)			8	44					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139164907	139164907	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139164907G>A	uc003yuy.2	-	13	1982	c.1811C>T	c.(1810-1812)GCC>GTC	p.A604V	FAM135B_uc003yux.2_Missense_Mutation_p.A505V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A166V|FAM135B_uc003yvb.2_Missense_Mutation_p.A166V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	604										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGAGATGGCATTTTGGTG	0.458		NA								HNSCC(54;0.14)			27	200					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139165102	139165102	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139165102C>T	uc003yuy.2	-	13	1787	c.1616G>A	c.(1615-1617)AGG>AAG	p.R539K	FAM135B_uc003yux.2_Missense_Mutation_p.R440K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R101K|FAM135B_uc003yvb.2_Missense_Mutation_p.R101K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	539										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGGACTCCTTCTAGAAGT	0.498		NA								HNSCC(54;0.14)			10	66					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139890021	139890021	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:139890021C>T	uc003yvd.2	-	3	1077	c.630G>A	c.(628-630)CGG>CGA	p.R210R		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCAGCTTGCCCCGGATCTTGT	0.662		NA								HNSCC(7;0.00092)			21	45					0	0	0	0
FLJ43860	389690	broad.mit.edu	37	8	142500263	142500263	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142500263G>A	uc003ywi.2	-	5	732	c.651C>T	c.(649-651)TTC>TTT	p.F217F	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	217							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTGTGTGGGAAGACGCCCG	0.642		NA											6	29					0	0	0	0
FLJ43860	389690	broad.mit.edu	37	8	142506435	142506435	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:142506435C>T	uc003ywi.2	-	2	328	c.247G>A	c.(247-249)GAA>AAA	p.E83K	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	83							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGTAGGCTTCCCCCATGAAC	0.637		NA											20	28					0	0	0	0
FAM83H	286077	broad.mit.edu	37	8	144808904	144808904	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144808904G>A	uc003yzk.2	-	5	2796	c.2727C>T	c.(2725-2727)CCC>CCT	p.P909P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	909					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTGCGCTCGGGGTAGGCTG	0.677		NA											5	16					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144940361	144940361	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144940361C>T	uc003zaa.1	-	2	15084	c.15071G>A	c.(15070-15072)AGC>AAC	p.S5024N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5024	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGCGGTGGCTGTGCACGGG	0.687		NA											20	472					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144941347	144941347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144941347G>A	uc003zaa.1	-	1	6088	c.6075C>T	c.(6073-6075)CTC>CTT	p.L2025L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2025	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTCCAGTGGGAGCCGGTGGT	0.602		NA											7	55					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144999724	144999724	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:144999724C>T	uc003zaf.1	-	31	4954	c.4784G>A	c.(4783-4785)CGC>CAC	p.R1595H	PLEC_uc003zab.1_Missense_Mutation_p.R1458H|PLEC_uc003zac.1_Missense_Mutation_p.R1462H|PLEC_uc003zad.2_Missense_Mutation_p.R1458H|PLEC_uc003zae.1_Missense_Mutation_p.R1426H|PLEC_uc003zag.1_Missense_Mutation_p.R1436H|PLEC_uc003zah.2_Missense_Mutation_p.R1444H|PLEC_uc003zaj.2_Missense_Mutation_p.R1485H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1595	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CAACTGCAGGCGCACCACGCG	0.721		NA											4	6					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	145001818	145001818	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145001818C>T	uc003zaf.1	-	27	4097	c.3927G>A	c.(3925-3927)GTG>GTA	p.V1309V	PLEC_uc003zab.1_Silent_p.V1172V|PLEC_uc003zac.1_Silent_p.V1176V|PLEC_uc003zad.2_Silent_p.V1172V|PLEC_uc003zae.1_Silent_p.V1140V|PLEC_uc003zag.1_Silent_p.V1150V|PLEC_uc003zah.2_Silent_p.V1158V|PLEC_uc003zaj.2_Silent_p.V1199V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1309	Globular 1.			V -> L (in Ref. 2; AAB05427/AAB05428).	cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTCCACCTCCACGTCCCGCT	0.731		NA											4	4					0	0	0	0
MFSD3	113655	broad.mit.edu	37	8	145735387	145735387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:145735387C>T	uc003zdi.1	+	1	836	c.671C>T	c.(670-672)ACC>ATC	p.T224I		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	224	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTGTGCTCACCTACAAGCTG	0.667		NA									OREG0019059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	0	0
ZNF16	7564	broad.mit.edu	37	8	146171451	146171451	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr8:146171451G>A	uc003zet.2	-	3	329	c.142C>T	c.(142-144)CCC>TCC	p.P48S	ZNF16_uc003zeu.2_Missense_Mutation_p.P48S	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTACAGCAGGGGGTACCACAG	0.587		NA											7	80					0	0	0	0
KCNV2	169522	broad.mit.edu	37	9	2729471	2729471	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:2729471G>A	uc003zho.1	+	2	1596	c.1382G>A	c.(1381-1383)GGA>GAA	p.G461E		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	461	Selectivity filter (By similarity).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GTGGGCTACGGAGACATGTAC	0.517		NA											17	79					0	0	0	0
RFX3	5991	broad.mit.edu	37	9	3330439	3330439	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:3330439C>T	uc003zhr.2	-	5	606	c.294G>A	c.(292-294)GGG>GGA	p.G98G	RFX3_uc010mhd.2_Silent_p.G98G|RFX3_uc003zhs.1_Silent_p.G98G|RFX3_uc003zht.1_Silent_p.G98G|RFX3_uc010mhe.1_Silent_p.G98G	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	98					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGGCGGAACTCCCTTGAGTAT	0.488		NA											25	38					0	0	0	0
ERMP1	79956	broad.mit.edu	37	9	5805208	5805208	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5805208C>T	uc003zjm.1	-	10	1787	c.1733G>A	c.(1732-1734)GGA>GAA	p.G578E	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.G192E	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	578	Cytoplasmic (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATAAATTTTCCTTGGGCACC	0.383		NA											4	13					0	0	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968741	5968741	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:5968741G>A	uc003zjq.3	-	3	1706	c.1490C>T	c.(1489-1491)CCA>CTA	p.P497L		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	497										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTAATGGGTGGAATTGGAAA	0.378		NA											46	88					0	0	0	0
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:14776177C>T	uc003zlm.2	-	25	5057	c.4467G>A	c.(4465-4467)CGG>CGA	p.R1489R	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.R25R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1489	CSPG 11.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CGTGCTCGGTCCGCAGTCCAT	0.527		NA											20	37					0	0	0	0
C9orf93	203238	broad.mit.edu	37	9	15971756	15971756	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:15971756C>T	uc003zmd.2	+	26	4218	c.3903C>T	c.(3901-3903)CCC>CCT	p.P1301P	C9orf93_uc003zme.2_Silent_p.P1216P|C9orf93_uc011lmu.1_Silent_p.P1309P	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1301											0				GBM - Glioblastoma multiforme(50;4.84e-07)		ATACTGTGCCCCATGCTCTGA	0.388		NA											101	59					0	0	0	0
BNC2	54796	broad.mit.edu	37	9	16437494	16437494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:16437494C>T	uc003zml.2	-	6	838	c.698G>A	c.(697-699)TGG>TAG	p.W233*	BNC2_uc011lmw.1_Nonsense_Mutation_p.W138*|BNC2_uc003zmm.2_Nonsense_Mutation_p.W191*|BNC2_uc003zmq.1_Nonsense_Mutation_p.W247*|BNC2_uc003zmr.1_Nonsense_Mutation_p.W270*|BNC2_uc003zmp.1_Nonsense_Mutation_p.W261*|BNC2_uc010mij.1_Nonsense_Mutation_p.W155*|BNC2_uc011lmv.1_Nonsense_Mutation_p.W59*|BNC2_uc003zmo.1_Nonsense_Mutation_p.W155*|BNC2_uc003zmj.2_5'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_5'UTR|BNC2_uc003zmn.1_5'UTR	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CATGATGGCCCAGCGGTCCAG	0.443		NA											13	48					0	0	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18675895	18675895	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:18675895C>T	uc003zne.3	+	10	1253	c.1126C>T	c.(1126-1128)CCC>TCC	p.P376S	ADAMTSL1_uc003znb.2_Intron|ADAMTSL1_uc003znc.3_Missense_Mutation_p.P376S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	376	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCTACCATCCCCTTCCTCG	0.368		NA											11	46					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	15					0	0	0	0
MOBKL2B	79817	broad.mit.edu	37	9	27359212	27359212	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:27359212G>A	uc003zqn.2	-	3	937	c.441C>T	c.(439-441)TTC>TTT	p.F147F		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	147							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)		AGATCTGAAGGAAGTTCTTTG	0.458		NA											35	161					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32632800	32632800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:32632800G>A	uc003zrg.1	-	1	2868	c.2778C>T	c.(2776-2778)TCC>TCT	p.S926S	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	926					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGCAAAAAAGGATTTCTCAC	0.453		NA											16	131					0	0	0	0
NOL6	65083	broad.mit.edu	37	9	33467448	33467449	+	Missense_Mutation	DNP	GG	GG	AA	rs115753355	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33467448_33467449GG>AA	uc003zsz.2	-	13	1769_1770	c.1668_1669CC>TT	c.(1666-1671)CTCCGG>CTTTGG	p.R557W	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.R557W|NOL6_uc010mjv.2_Missense_Mutation_p.R554W|NOL6_uc011lob.1_Missense_Mutation_p.R505W|NOL6_uc003ztb.1_Missense_Mutation_p.R557W	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	557					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCTCAGGCCGGAGAAGGAGTC	0.599		NA									OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	0	0
UBAP2	55833	broad.mit.edu	37	9	33922871	33922871	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:33922871A>T	uc003ztq.1	-	28	3191	c.3078T>A	c.(3076-3078)TTT>TTA	p.F1026L	UBAP2_uc011loc.1_Missense_Mutation_p.F935L|UBAP2_uc011lod.1_Missense_Mutation_p.F759L|UBAP2_uc011loe.1_Missense_Mutation_p.F781L|UBAP2_uc003ztn.1_Missense_Mutation_p.F265L|UBAP2_uc003zto.1_Missense_Mutation_p.F265L|UBAP2_uc003ztp.1_Missense_Mutation_p.F265L	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1026										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTGCTTGTCAAAAGTCTACA	0.572		NA											55	28					0	0	0	0
C9orf131	138724	broad.mit.edu	37	9	35045473	35045473	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35045473G>A	uc003zvw.2	+	2	2876	c.2847G>A	c.(2845-2847)AGG>AGA	p.R949R	C9orf131_uc003zvu.2_Silent_p.R901R|C9orf131_uc003zvv.2_Silent_p.R876R|C9orf131_uc003zvx.2_Silent_p.R914R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	949											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCACCCTAGGAAACCCAAAG	0.542		NA											19	145					0	0	0	0
UNC13B	10497	broad.mit.edu	37	9	35243343	35243343	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:35243343C>T	uc003zwq.2	+	6	742	c.450C>T	c.(448-450)GCC>GCT	p.A150A	UNC13B_uc010mkl.1_Silent_p.A150A|UNC13B_uc003zwr.2_Silent_p.A150A	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	150					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAATCAATGCCTTGGGAGCTG	0.443		NA											25	131					0	0	0	0
RECK	8434	broad.mit.edu	37	9	36102140	36102140	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:36102140C>T	uc003zyv.2	+	12	1434	c.1348C>T	c.(1348-1350)CCT>TCT	p.P450S	RECK_uc003zyw.2_Missense_Mutation_p.P322S|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	450						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GAACAAATTCCCTGAAGACCA	0.373		NA											13	76					0	0	0	0
PAX5	5079	broad.mit.edu	37	9	37014993	37014993	+	Splice_Site	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37014993C>T	uc003zzo.1	-	3	858	c.410_splice	c.e3+1	p.R137_splice	PAX5_uc011lpw.1_Splice_Site_p.R137_splice|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Splice_Site_p.R29_splice|PAX5_uc010mls.1_Splice_Site_p.R137_splice|PAX5_uc011lpz.1_Splice_Site_p.R137_splice|PAX5_uc011lqa.1_Splice_Site_p.R29_splice|PAX5_uc010mlq.1_Splice_Site|PAX5_uc011lqb.1_Splice_Site|PAX5_uc010mlo.1_Splice_Site_p.R137_splice|PAX5_uc010mlp.1_Splice_Site_p.R137_splice|PAX5_uc011lqc.1_Splice_Site_p.R137_splice|PAX5_uc010mlr.1_Splice_Site_p.R137_splice|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_Splice_Site|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Splice_Site	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5						cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(29)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAGCCCCTCACCTGTTGATGG	0.577		NA	T|Mis|D|F|S	IGH@|ETV6|PML|FOXP1|ZNF521|ELN	NHL|ALL|B-ALL								34	172					0	0	0	0
FBXO10	26267	broad.mit.edu	37	9	37537656	37537656	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:37537656G>A	uc004aab.2	-	3	919	c.870C>T	c.(868-870)GAC>GAT	p.D290D	FBXO10_uc004aac.2_Silent_p.D306D|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	290						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		ACATTAAAAAGTCAGAGTCCT	0.542		NA											6	40					0	0	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396326	38396326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:38396326G>A	uc004aay.2	+	2	693	c.581G>A	c.(580-582)TGG>TAG	p.W194*		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	194					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ATGCAGGGTTGGAAACTTGCC	0.587		NA											15	87					0	0	0	0
FAM75A6	389730	broad.mit.edu	37	9	43624966	43624966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:43624966C>T	uc011lrb.1	-	4	3750	c.3721G>A	c.(3721-3723)GGG>AGG	p.G1241R		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1241						integral to membrane					0						CAGGGAAACCCACAGACTGGG	0.507		NA											37	405					0	0	0	0
C9orf135	138255	broad.mit.edu	37	9	72459528	72459528	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:72459528C>T	uc004ahl.2	+	2	313	c.248C>T	c.(247-249)ACC>ATC	p.T83I	C9orf135_uc011lrw.1_Intron|C9orf135_uc010moq.2_Intron|C9orf135_uc011lrx.1_Intron|C9orf135_uc010mop.2_Missense_Mutation_p.T83I	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	83	Extracellular (Potential).					integral to membrane				ovary(1)	1						CGACTGGGAACCGATGAATCC	0.393		NA											42	73					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73477822	73477822	+	Splice_Site	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:73477822A>T	uc004aid.2	-	3	706	c.462_splice	c.e3+1	p.M154_splice	TRPM3_uc004ahw.2_Splice_Site_p.M1_splice|TRPM3_uc004ahx.2_Splice_Site_p.M1_splice|TRPM3_uc004ahy.2_Splice_Site_p.M1_splice|TRPM3_uc004ahz.2_Splice_Site_p.M1_splice|TRPM3_uc004aia.2_Splice_Site_p.M1_splice|TRPM3_uc004aib.2_Splice_Site_p.M1_splice|TRPM3_uc004aic.2_Splice_Site_p.M154_splice|TRPM3_uc010mor.2_Splice_Site_p.M154_splice|TRPM3_uc004aie.2_Splice_Site_p.M1_splice|TRPM3_uc004aif.2_Splice_Site_p.M1_splice|TRPM3_uc004aig.2_Splice_Site_p.M1_splice|TRPM3_uc004aii.2_Splice_Site_p.M156_splice	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTTTCTGATTACCATGGCTTT	0.383		NA											19	154					0	0	0	0
GCNT1	2650	broad.mit.edu	37	9	79117759	79117759	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117759G>A	uc010mpf.2	+	3	803	c.462G>A	c.(460-462)GTG>GTA	p.V154V	GCNT1_uc010mpg.2_Silent_p.V154V|GCNT1_uc010mph.2_Silent_p.V154V|GCNT1_uc004akf.3_Silent_p.V154V|GCNT1_uc010mpi.2_Silent_p.V154V|GCNT1_uc004akh.3_Silent_p.V154V	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	154	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						GCATTCATGTGGACACAAAAT	0.428		NA											42	70					0	0	0	0
GCNT1	2650	broad.mit.edu	37	9	79117926	79117927	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79117926_79117927GG>AA	uc010mpf.2	+	3	970_971	c.629_630GG>AA	c.(628-630)TGG>TAA	p.W210*	GCNT1_uc010mpg.2_Nonsense_Mutation_p.W210*|GCNT1_uc010mph.2_Nonsense_Mutation_p.W210*|GCNT1_uc004akf.3_Nonsense_Mutation_p.W210*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.W210*|GCNT1_uc004akh.3_Nonsense_Mutation_p.W210*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	210	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0						AGTGCAAACTGGAAGTACTTGA	0.436		NA											18	89					0	0	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322795	79322795	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:79322795T>A	uc010mpk.2	-	8	4519	c.4395A>T	c.(4393-4395)AAA>AAT	p.K1465N		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1465					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						ATTCTTCAGTTTTCTCAAGAT	0.433		NA											20	88					0	0	0	0
TLE4	7091	broad.mit.edu	37	9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:82267635C>T	uc004ald.2	+	7	1346	c.497C>T	c.(496-498)TCC>TTC	p.S166F	TLE4_uc004alc.2_Missense_Mutation_p.S173F|TLE4_uc010mpr.2_Missense_Mutation_p.S52F|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.S141F|TLE4_uc010mps.2_Missense_Mutation_p.S166F|TLE4_uc004alf.2_Missense_Mutation_p.S112F	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CTGGCCCTCTCCAGTGCTCTA	0.542		NA											67	120					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84606513	84606513	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84606513C>T	uc004amn.2	+	4	1175	c.1128C>T	c.(1126-1128)TTC>TTT	p.F376F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	376						integral to membrane					0						CATCTGATTTCATGGAGGAGC	0.468		NA											30	54					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84607526	84607526	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:84607526G>A	uc004amn.2	+	4	2188	c.2141G>A	c.(2140-2142)CGT>CAT	p.R714H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	714						integral to membrane					0						TCATTGCTACGTCCTCAGAGC	0.473		NA											14	66					0	0	0	0
FRMD3	257019	broad.mit.edu	37	9	85862842	85862842	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:85862842A>G	uc004ams.1	-	14	1987	c.1785T>C	c.(1783-1785)GGT>GGC	p.G595G	FRMD3_uc004amr.1_Intron|FRMD3_uc004amq.1_Intron	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	595						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2						TTCATGAGCAACCCAGCATGT	0.478		NA											95	247					0	0	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586945	86586945	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:86586945C>T	uc004ang.3	-	11	1029	c.805G>A	c.(805-807)GGT>AGT	p.G269S	HNRNPK_uc011lsw.1_Missense_Mutation_p.G29S|HNRNPK_uc004and.3_Missense_Mutation_p.G29S|HNRNPK_uc004ank.3_Missense_Mutation_p.G269S|HNRNPK_uc004anf.3_Missense_Mutation_p.G269S|HNRNPK_uc004anh.3_Missense_Mutation_p.G245S|HNRNPK_uc011lsx.1_Missense_Mutation_p.G245S|HNRNPK_uc004ani.3_Missense_Mutation_p.G269S|HNRNPK_uc004anj.3_Missense_Mutation_p.G269S|HNRNPK_uc004ann.3_Missense_Mutation_p.G245S|HNRNPK_uc004anl.3_Missense_Mutation_p.G269S|HNRNPK_uc004anm.3_Missense_Mutation_p.G269S|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	269	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-3.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						GGACGCCCACCCCGACCAGGA	0.582		NA											14	89					0	0	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88960644	88960644	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:88960644A>C	uc004aoq.2	-	4	974	c.759T>G	c.(757-759)ATT>ATG	p.I253M	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aou.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aov.2_Missense_Mutation_p.I253M|ZCCHC6_uc004aow.2_Missense_Mutation_p.I253M	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	253					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CAATGGATTCAATTAAAACAT	0.353		NA											13	79					0	0	0	0
DAPK1	1612	broad.mit.edu	37	9	90272959	90272959	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90272959C>T	uc004apc.2	+	18	1978	c.1840C>T	c.(1840-1842)CTG>TTG	p.L614L	DAPK1_uc004apd.2_Silent_p.L614L|DAPK1_uc011ltg.1_Silent_p.L614L|DAPK1_uc011lth.1_Silent_p.L351L|DAPK1_uc004apf.1_Silent_p.L168L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	614	ANK 8.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GCGAACGCCTCTGCACCTTGC	0.567		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				7	16					0	0	0	0
DAPK1	1612	broad.mit.edu	37	9	90296363	90296363	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:90296363G>C	uc004apc.2	+	20	2184	c.2046G>C	c.(2044-2046)CAG>CAC	p.Q682H	DAPK1_uc004apd.2_Missense_Mutation_p.Q682H|DAPK1_uc011ltg.1_Missense_Mutation_p.Q682H|DAPK1_uc011lth.1_Missense_Mutation_p.Q419H|DAPK1_uc004apf.1_Missense_Mutation_p.Q236H	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						GACCCACACAGAACCTGCAGC	0.502		NA							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				35	182					0	0	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375903	93375903	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:93375903C>T	uc004aqx.1	-	2	318	c.207G>A	c.(205-207)CCG>CCA	p.P69P		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	69					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						GCTGCATGGCCGGGAACTGGT	0.577		NA											34	85					0	0	0	0
AUH	549	broad.mit.edu	37	9	94087606	94087606	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:94087606C>T	uc004arf.3	-	4	534	c.499G>A	c.(499-501)GAT>AAT	p.D167N	AUH_uc004arg.3_Intron|AUH_uc011ltu.1_Missense_Mutation_p.D167N	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	167					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TTACCAATATCGTTAATCACT	0.343		NA											28	103					0	0	0	0
IARS	3376	broad.mit.edu	37	9	95030486	95030486	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95030486G>A	uc004art.1	-	14	1658	c.1401C>T	c.(1399-1401)ATC>ATT	p.I467I	IARS_uc004ars.1_Silent_p.I312I|IARS_uc004aru.3_Silent_p.I467I|IARS_uc010mqr.2_Silent_p.I357I|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	467					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	CCCACAGTGGGATGGGGGTGC	0.463		NA											47	242					0	0	0	0
ZNF484	83744	broad.mit.edu	37	9	95610131	95610131	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:95610131G>A	uc004asu.1	-	5	1087	c.938C>T	c.(937-939)TCC>TTC	p.S313F	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S315F|ZNF484_uc010mrb.1_Missense_Mutation_p.S277F|ZNF484_uc004asv.1_Missense_Mutation_p.S277F	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGACTTGAGGGAAAAATCCTT	0.433		NA											35	67					0	0	0	0
C9orf3	84909	broad.mit.edu	37	9	97522670	97522670	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:97522670A>T	uc004ava.2	+	1	740	c.605A>T	c.(604-606)CAG>CTG	p.Q202L	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.Q202L|C9orf3_uc004auy.2_Missense_Mutation_p.Q202L|C9orf3_uc004auz.1_Missense_Mutation_p.Q202L	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	202					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGGAGGGAGCAGTTAGACTAT	0.502		NA											16	66					0	0	0	0
ZNF510	22869	broad.mit.edu	37	9	99525461	99525461	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:99525461C>A	uc004awn.1	-	5	480	c.291G>T	c.(289-291)AAG>AAT	p.K97N	ZNF510_uc004awo.1_Missense_Mutation_p.K97N	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				CTTGCTCCAACTTGAAGATCA	0.433		NA											89	188					3.3e-42	3.43e-42	1	0
KIAA1529	57653	broad.mit.edu	37	9	100126386	100126386	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100126386G>A	uc011lut.1	+	41	5278	c.4505G>A	c.(4504-4506)GGG>GAG	p.G1502E	KIAA1529_uc004axe.1_Missense_Mutation_p.G1308E|KIAA1529_uc004axg.1_Missense_Mutation_p.G1363E|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CGGGTGCTTGGGGACAAGCCT	0.562		NA											5	34					0	0	0	0
C9orf156	51531	broad.mit.edu	37	9	100672660	100672660	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100672660C>T	uc004axv.1	-	4	725	c.648G>A	c.(646-648)AAG>AAA	p.K216K	C9orf156_uc004axw.1_Silent_p.K113K|C9orf156_uc004axx.1_Silent_p.K70K|C9orf156_uc010msq.1_Silent_p.K113K	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	216					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				TAGGTTTCCTCTTAGTGCTAT	0.488		NA											22	90					0	0	0	0
TRIM14	9830	broad.mit.edu	37	9	100857229	100857229	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:100857229G>A	uc004ayd.2	-	4	638	c.620C>T	c.(619-621)CCC>CTC	p.P207L	TRIM14_uc004ayf.1_Missense_Mutation_p.P114L|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.P207L|TRIM14_uc004ayh.1_Missense_Mutation_p.P207L|TRIM14_uc004ayi.1_Missense_Mutation_p.P207L|TRIM14_uc004ayj.1_Missense_Mutation_p.P114L	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	207						cytoplasm|intracellular	zinc ion binding	p.P207L(1)		central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTGACGGGCTCAAAGGA	0.587		NA											20	125					0	0	0	0
GABBR2	9568	broad.mit.edu	37	9	101340229	101340229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:101340229C>T	uc004ays.2	-	2	603	c.447G>A	c.(445-447)TGG>TGA	p.W149*		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	149	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCACCAGATTCCAGCCTTGGA	0.488		NA											8	71					0	0	0	0
NR4A3	8013	broad.mit.edu	37	9	102626030	102626030	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:102626030G>A	uc004baf.1	+	8	2491	c.1762G>A	c.(1762-1764)GTA>ATA	p.V588I	NR4A3_uc004bag.1_Missense_Mutation_p.V588I|NR4A3_uc004bai.2_Missense_Mutation_p.V599I	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	588					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGTGCCCTGGTAGAACTGAG	0.532		NA	T	EWSR1	extraskeletal myxoid chondrosarcoma								18	28					0	0	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375660	104375660	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:104375660C>T	uc004bbp.1	-	6	3365	c.2764G>A	c.(2764-2766)GAG>AAG	p.E922K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E922K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	922	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTCCATACCTCCGTGACAGCA	0.433		NA											12	60					0	0	0	0
OR13D1	286365	broad.mit.edu	37	9	107456851	107456851	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:107456851C>T	uc011lvs.1	+	1	149	c.149C>T	c.(148-150)TCC>TTC	p.S50F		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	50	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTGGGGCTTTCCCAATATCCA	0.448		NA											24	85					0	0	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617981	111617981	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:111617981G>A	uc004bdi.2	-	1	295	c.230C>T	c.(229-231)TCC>TTC	p.S77F		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	77						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCCCACGGTGGAGGAGATGAA	0.637		NA											20	138					0	0	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018730	112018731	+	Missense_Mutation	DNP	GG	GG	AA	rs144325998	by1000genomes	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112018730_112018731GG>AA	uc004bdz.1	-	8	1077_1078	c.782_783CC>TT	c.(781-783)TCC>TTT	p.S261F	EPB41L4B_uc004bea.2_Missense_Mutation_p.S261F	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	261	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TATTCAGATAGGAGAGTTCCGC	0.47		NA											24	123					0	0	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898501	112898501	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:112898501C>T	uc004bei.2	+	9	1565	c.1373C>T	c.(1372-1374)TCC>TTC	p.S458F	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S226F|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S226F|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.S36F|AKAP2_uc011lwi.1_Missense_Mutation_p.S84F|AKAP2_uc004bem.2_Missense_Mutation_p.S84F|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.S44F|AKAP2_uc011lwj.1_5'UTR|PALM2-AKAP2_uc004ben.2_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						AGCTCTCTTTCCCCAGATCAC	0.507		NA											35	124					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113196736	113196736	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:113196736C>T	uc010mtz.2	-	30	5276	c.4939G>A	c.(4939-4941)GAT>AAT	p.D1647N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1647	Sushi 5.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGCTTTAAATCTTCAGATGCA	0.517		NA											15	19					0	0	0	0
OR2K2	26248	broad.mit.edu	37	9	114090371	114090371	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114090371G>A	uc011lwp.1	-	1	343	c.343C>T	c.(343-345)CTG>TTG	p.L115L		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	144	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATCACGGCCAGGAGCACACAC	0.517		NA											13	37					0	0	0	0
C9orf84	158401	broad.mit.edu	37	9	114500596	114500596	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:114500596C>T	uc004bfr.2	-	10	1324	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.E461K|C9orf84_uc004bfq.2_Missense_Mutation_p.E358K|C9orf84_uc010mug.2_Missense_Mutation_p.E343K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	397										ovary(2)	2						AAAAATATCTCAATTTTAGTG	0.289		NA											11	61					0	0	0	0
RGS3	5998	broad.mit.edu	37	9	116224447	116224447	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:116224447G>A	uc004bhq.2	+	4	590	c.381G>A	c.(379-381)AGG>AGA	p.R127R	RGS3_uc004bhr.2_5'Flank|RGS3_uc004bhs.2_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	127					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CTCCAGCCAGGAAGAGGATCA	0.537		NA											9	74					0	0	0	0
COL27A1	85301	broad.mit.edu	37	9	117014918	117014918	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117014918G>A	uc011lxl.1	+	26	3079	c.3079G>A	c.(3079-3081)GGG>AGG	p.G1027R	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1027	Pro-rich.|Collagen-like 7.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TGGACCCAAGGGGTCGATGGT	0.592		NA											22	117					0	0	0	0
AKNA	80709	broad.mit.edu	37	9	117130730	117130730	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:117130730G>A	uc004biq.3	-	4	1697	c.1562C>T	c.(1561-1563)TCT>TTT	p.S521F	AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.S440F|AKNA_uc004bir.3_Missense_Mutation_p.S521F|AKNA_uc004bis.3_Missense_Mutation_p.S521F|AKNA_uc010mve.2_Missense_Mutation_p.S402F|AKNA_uc004biu.1_Missense_Mutation_p.S262F|AKNA_uc004biv.1_Missense_Mutation_p.S521F	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						TGAGGCCGCAGAGGCCTGGGG	0.667		NA											13	60					0	0	0	0
TRIM32	22954	broad.mit.edu	37	9	119461243	119461243	+	Missense_Mutation	SNP	C	C	T	rs3747835	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:119461243C>T	uc004bjx.2	+	2	1380	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408C	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	408					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						GAAGGAAATCCGCCGCAGCCC	0.512		NA							Bardet-Biedl_syndrome				26	159					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120475272	120475272	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120475272G>A	uc004bjz.2	+	3	1157	c.866G>A	c.(865-867)CGA>CAA	p.R289Q	TLR4_uc004bka.2_Missense_Mutation_p.R249Q|TLR4_uc004bkb.2_Missense_Mutation_p.R89Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	289	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						GAAGAATTCCGATTAGCATAC	0.363		NA											24	115					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120476800	120476800	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:120476800G>A	uc004bjz.2	+	3	2685	c.2394G>A	c.(2392-2394)GAG>GAA	p.E798E	TLR4_uc004bka.2_Silent_p.E758E|TLR4_uc004bkb.2_Silent_p.E598E	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	798	Cytoplasmic (Potential).|TIR.				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						TGGAGTGGGAGGACAGTGTCC	0.542		NA											38	75					0	0	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123313139	123313139	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123313139G>A	uc004bkf.2	-	4	418	c.237C>T	c.(235-237)CTC>CTT	p.L79L	CDK5RAP2_uc004bkg.2_Silent_p.L79L|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.L79L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	79					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AATAGATGCGGAGCTTTAGGT	0.393		NA											17	129					0	0	0	0
C5	727	broad.mit.edu	37	9	123737102	123737102	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123737102A>G	uc004bkv.2	-	30	4002	c.3972T>C	c.(3970-3972)CAT>CAC	p.H1324H		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1324					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTATAATTATGTAAGGCAC	0.388		NA											19	128					0	0	0	0
C5	727	broad.mit.edu	37	9	123744130	123744130	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123744130G>A	uc004bkv.2	-	27	3508	c.3478C>T	c.(3478-3480)CCC>TCC	p.P1160S		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1160					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACCACCAGGGGGCATATATCG	0.413		NA											6	33					0	0	0	0
CEP110	11064	broad.mit.edu	37	9	123880719	123880719	+	Silent	SNP	G	G	C			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:123880719G>C	uc004bkx.1	+	10	1582	c.1551G>C	c.(1549-1551)CTG>CTC	p.L517L	CEP110_uc004bky.1_Silent_p.L121L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	517	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						ATCTAGAACTGCAGATGGAAA	0.418		NA											28	125					0	0	0	0
MRRF	92399	broad.mit.edu	37	9	125042818	125042818	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125042818C>T	uc004bmb.2	+	3	396	c.281C>T	c.(280-282)TCT>TTT	p.S94F	MRRF_uc004bmc.2_Missense_Mutation_p.S94F|MRRF_uc011lyq.1_Missense_Mutation_p.S115F|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.S94F|MRRF_uc011lyr.1_Intron|MRRF_uc004bmd.2_Missense_Mutation_p.S94F|MRRF_uc004bme.2_RNA	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor isoform	94					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						GAAATGAAGTCTGTGATAGAA	0.388		NA											29	45					0	0	0	0
OR1L4	254973	broad.mit.edu	37	9	125487082	125487082	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:125487082G>A	uc004bmu.1	+	1	814	c.814G>A	c.(814-816)GGC>AGC	p.G272S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	272	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGTGATGAAGGGCCGGGTAGC	0.468		NA											28	52					0	0	0	0
CRB2	286204	broad.mit.edu	37	9	126132586	126132586	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:126132586G>A	uc004bnx.1	+	7	1346	c.1254G>A	c.(1252-1254)GGG>GGA	p.G418G	CRB2_uc004bnw.1_Silent_p.G418G	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	418	Extracellular (Potential).|EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TCGAGTCTGGGGTCCACAGTT	0.622		NA											7	30					0	0	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128321983	128321983	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:128321983G>A	uc004bpv.2	-	6	1110	c.777C>T	c.(775-777)TTC>TTT	p.F259F	MAPKAP1_uc011lzt.1_Silent_p.F62F|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.F62F|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.F67F|MAPKAP1_uc004bpx.2_Silent_p.F67F|MAPKAP1_uc004bpy.2_Silent_p.F259F|MAPKAP1_uc004bpz.2_Silent_p.F259F|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.F62F|MAPKAP1_uc004bqa.2_Silent_p.F259F|MAPKAP1_uc010mxc.1_Silent_p.F131F	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	259					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						CCAAAGTACTGAAGCCAAACT	0.483		NA											7	47					0	0	0	0
RALGPS1	9649	broad.mit.edu	37	9	129931022	129931022	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:129931022C>T	uc004bqo.1	+	10	1080	c.813C>T	c.(811-813)CTC>CTT	p.L271L	RALGPS1_uc011mab.1_Silent_p.L271L|RALGPS1_uc011mac.1_Silent_p.L271L|RALGPS1_uc004bqq.3_Silent_p.L271L	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	271	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						TTGAAGAGCTCCAGAAGTTTG	0.517		NA											19	136					0	0	0	0
PTRH1	138428	broad.mit.edu	37	9	130476448	130476448	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130476448C>T	uc004bro.2	-	5	594	c.576G>A	c.(574-576)CTG>CTA	p.L192L	PTRH1_uc004brm.2_Intron|PTRH1_uc010mxm.2_Nonsense_Mutation_p.W190*|PTRH1_uc011mah.1_Silent_p.L205L|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog	192					translation		aminoacyl-tRNA hydrolase activity|protein binding				0						TGGCTCGATCCAGCAACAGAG	0.667		NA											5	37					0	0	0	0
ENG	2022	broad.mit.edu	37	9	130581106	130581106	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:130581106C>T	uc004bsj.3	-	11	1730	c.1317G>A	c.(1315-1317)AAG>AAA	p.K439K	ENG_uc011mam.1_Silent_p.K250K|ENG_uc004bsk.3_Silent_p.K439K|uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	439	Ser/Thr-rich.|Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0						GGCAGTGCACCTTTTTCTGGG	0.637		NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				77	158					0	0	0	0
ASS1	445	broad.mit.edu	37	9	133346897	133346897	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133346897C>T	uc004bzm.2	+	9	948	c.592C>T	c.(592-594)CCC>TCC	p.P198S	ASS1_uc004bzn.2_Missense_Mutation_p.P198S|ASS1_uc010mza.2_Missense_Mutation_p.P274S|ASS1_uc004bzo.2_Missense_Mutation_p.P179S|ASS1_uc010mzb.2_Missense_Mutation_p.P236S|ASS1_uc004bzp.2_Missense_Mutation_p.P198S|ASS1_uc010mzc.2_Missense_Mutation_p.P198S	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	198					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGGAGAACCCCAAGGTAAT	0.562		NA											19	35					0	0	0	0
FUBP3	8939	broad.mit.edu	37	9	133506164	133506164	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133506164G>A	uc004bzr.1	+	13	1375	c.1267G>A	c.(1267-1269)GAG>AAG	p.E423K	FUBP3_uc004bzs.1_Missense_Mutation_p.E336K	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	423					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GCTCATAGATGAGAAAGTTGG	0.567		NA											11	25					0	0	0	0
LAMC3	10319	broad.mit.edu	37	9	133928244	133928244	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:133928244G>A	uc004caa.1	+	11	1929	c.1831G>A	c.(1831-1833)GAG>AAG	p.E611K		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	611	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGCCTGCAGGAGACCTCCGA	0.687		NA									OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	44					0	0	0	0
C9orf98	158067	broad.mit.edu	37	9	135698629	135698629	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135698629C>T	uc004cbu.1	-	9	1408	c.852G>A	c.(850-852)CAG>CAA	p.Q284Q	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Silent_p.Q80Q	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	284	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		GGAGGGCGGCCTGCAGACTTT	0.617		NA											28	174					0	0	0	0
TSC1	7248	broad.mit.edu	37	9	135781032	135781032	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135781032G>A	uc004cca.2	-	15	2167	c.1933C>T	c.(1933-1935)CCA>TCA	p.P645S	TSC1_uc004ccb.3_Missense_Mutation_p.P644S|TSC1_uc011mcq.1_Missense_Mutation_p.P594S|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	645					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTTCCATTGGGGAGGTAGAG	0.498		NA	D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				13	106					0	0	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917600	135917600	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:135917600C>T	uc004cci.3	+	2	617	c.280C>T	c.(280-282)CGG>TGG	p.R94W	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004ccj.3_Missense_Mutation_p.R94W	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	94						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GAGAACGAGGCGGCAGAAAGG	0.572		NA											15	131					0	0	0	0
GBGT1	26301	broad.mit.edu	37	9	136029195	136029195	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136029195C>T	uc004ccw.2	-	7	1094	c.813G>A	c.(811-813)AGG>AGA	p.R271R	RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Silent_p.R224R|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Silent_p.R254R|GBGT1_uc010nac.1_Silent_p.R135R|GBGT1_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	271	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCATATACCCTGGCCACCT	0.592		NA											10	96					0	0	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136314957	136314957	+	Missense_Mutation	SNP	G	G	A	rs139951127		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:136314957G>A	uc004cdv.3	+	23	3359	c.2915G>A	c.(2914-2916)CGG>CAG	p.R972Q	ADAMTS13_uc004cdp.3_Missense_Mutation_p.R199Q|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R972Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R941Q|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R972Q|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R941Q|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R642Q	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	972	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGGTCGTGCGGAGGATCCTG	0.667		NA											27	95					0	0	0	0
COL5A1	1289	broad.mit.edu	37	9	137623462	137623462	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137623462G>A	uc004cfe.2	+	8	1667	c.1285G>A	c.(1285-1287)GAG>AAG	p.E429K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	429	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCCCGTCGGAGATCGGGCC	0.557		NA											20	150					0	0	0	0
COL5A1	1289	broad.mit.edu	37	9	137704485	137704485	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:137704485C>T	uc004cfe.2	+	48	4161	c.3779C>T	c.(3778-3780)TCC>TTC	p.S1260F		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1260	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGAGGACCCTCCGGAGCTCCA	0.632		NA											3	15					0	0	0	0
SEC16A	9919	broad.mit.edu	37	9	139338337	139338337	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139338337G>A	uc004chx.2	-	31	7252	c.6943C>T	c.(6943-6945)CCT>TCT	p.P2315S	SEC16A_uc004chp.2_RNA|SEC16A_uc004chq.2_Missense_Mutation_p.P158S|SEC16A_uc011mea.1_Missense_Mutation_p.P155S|SEC16A_uc004chr.2_Missense_Mutation_p.P343S|SEC16A_uc004chs.2_Missense_Mutation_p.P155S|SEC16A_uc004cht.2_Missense_Mutation_p.P365S|SEC16A_uc004chu.2_Missense_Mutation_p.P522S|SEC16A_uc004chv.3_Missense_Mutation_p.P1685S|SEC16A_uc004chw.2_Missense_Mutation_p.P2290S|SEC16A_uc010nbn.2_Missense_Mutation_p.P2292S	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	2137	Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCTGCAGCAGGGAGGTCGCCA	0.612		NA											4	44					0	0	0	0
ENTPD2	954	broad.mit.edu	37	9	139944949	139944949	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:139944949G>A	uc004ckw.1	-	6	872	c.816C>T	c.(814-816)ACC>ACT	p.T272T	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Silent_p.T272T	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	272	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGCACTTGGGTGGAAAAGC	0.647		NA									OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					0	0	0	0
ANAPC2	29882	broad.mit.edu	37	9	140078134	140078134	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140078134G>A	uc004clr.1	-	5	1231	c.1158C>T	c.(1156-1158)CTC>CTT	p.L386L	ANAPC2_uc004clq.1_Silent_p.L242L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	386					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTGGATGCAGGAGCCGAGTCT	0.657		NA											3	19					0	0	0	0
FAM166A	401565	broad.mit.edu	37	9	140139886	140139886	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140139886G>A	uc004cmi.1	-	3	450	c.395C>T	c.(394-396)CCC>CTC	p.P132L		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	132										ovary(1)	1						CGGGGTGTCGGGCGTGAAGCC	0.642		NA											18	118					0	0	0	0
NOXA1	10811	broad.mit.edu	37	9	140323432	140323432	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140323432C>T	uc004cmv.2	+	4	603	c.468C>T	c.(466-468)TCC>TCT	p.S156S	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.S156S|NOXA1_uc010nch.2_Silent_p.S156S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	156	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGGAGGGGTCCCTGAATGGCC	0.622		NA											3	11					0	0	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358627	140358627	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140358627G>A	uc004cnf.2	-	27	3439	c.3102C>T	c.(3100-3102)TTC>TTT	p.F1034F	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Silent_p.F300F|PNPLA7_uc004cne.1_Silent_p.F300F|PNPLA7_uc011mfa.1_Silent_p.F442F|PNPLA7_uc010ncj.1_Silent_p.F1059F	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1034	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGTGATGGCGAAATAAGGAA	0.672		NA											7	35					0	0	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389515	140389515	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140389515G>A	uc004cnf.2	-	18	2359	c.2022C>T	c.(2020-2022)GCC>GCT	p.A674A	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Silent_p.A699A	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	674	cNMP 3.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGACGTGAGGGCTCCTGCCG	0.597		NA											13	75					0	0	0	0
EHMT1	79813	broad.mit.edu	37	9	140611609	140611609	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr9:140611609C>T	uc011mfc.1	+	3	654	c.617C>T	c.(616-618)ACC>ATC	p.T206I	EHMT1_uc004coa.2_Missense_Mutation_p.T206I|EHMT1_uc004cob.1_Missense_Mutation_p.T175I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	206					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACGCAAGACCATGCCGAAG	0.572		NA											13	57					0	0	0	0
ASMT	438	broad.mit.edu	37	X	1742148	1742148	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1742148C>T	uc004cqd.2	+	3	331	c.186C>T	c.(184-186)CTC>CTT	p.L62L	ASMT_uc010ncy.2_Silent_p.L62L|ASMT_uc004cqe.2_Silent_p.L62L	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	62					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGAGCTCCTGCTGGACA	0.617		NA											7	85					0	0	0	0
ASMT	438	broad.mit.edu	37	X	1743190	1743190	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:1743190C>T	uc004cqd.2	+	4	418	c.273C>T	c.(271-273)AGC>AGT	p.S91S	ASMT_uc010ncy.2_Silent_p.S91S|ASMT_uc004cqe.2_Silent_p.S91S	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	91					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCTGTCCAGCGACTACCTGA	0.572		NA											31	369					0	0	0	0
MXRA5	25878	broad.mit.edu	37	X	3239247	3239247	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:3239247G>A	uc004crg.3	-	5	4636	c.4479C>T	c.(4477-4479)TCC>TCT	p.S1493S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1493						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGGGGACGAGGATGCTGGCT	0.483		NA											24	40					0	0	0	0
CLCN4	1183	broad.mit.edu	37	X	10163010	10163010	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:10163010G>T	uc004csy.3	+	5	734	c.304G>T	c.(304-306)GTC>TTC	p.V102F	CLCN4_uc011mid.1_Missense_Mutation_p.V8F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	102	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAAGGAGGGGGTCTGCCTGTC	0.552		NA											66	29					6.87e-38	7.15e-38	1	0
ARHGAP6	395	broad.mit.edu	37	X	11682604	11682604	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:11682604G>A	uc004cup.1	-	1	1218	c.345C>T	c.(343-345)TCC>TCT	p.S115S	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.S115S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	115					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						GAAAGCTGCCGGATGGTGACT	0.657		NA											13	5					0	0	0	0
KLHL34	257240	broad.mit.edu	37	X	21675148	21675148	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:21675148G>A	uc004czz.1	-	1	1301	c.759C>T	c.(757-759)ATC>ATT	p.I253I		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	253										ovary(1)	1						TGAGGGCCTGGATGATGAGGC	0.692		NA											8	6					0	0	0	0
CXorf58	254158	broad.mit.edu	37	X	23933835	23933835	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:23933835G>A	uc004daz.1	+	4	579	c.235G>A	c.(235-237)GAA>AAA	p.E79K	CXorf58_uc011mju.1_Missense_Mutation_p.E79K	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	hypothetical protein LOC254158	79											0						TGTAACACATGAAATACTGAA	0.338		NA											11	14					0	0	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301114	29301114	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:29301114C>T	uc004dby.2	+	3	650	c.142C>T	c.(142-144)CCT>TCT	p.P48S		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	48	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GGTGGGAGAGCCTGTTCGAAT	0.398		NA											22	18					0	0	0	0
DMD	1756	broad.mit.edu	37	X	32305752	32305752	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:32305752C>A	uc004dda.1	-	43	6428	c.6184G>T	c.(6184-6186)GCA>TCA	p.A2062S	DMD_uc004dcw.2_Missense_Mutation_p.A718S|DMD_uc004dcx.2_Missense_Mutation_p.A721S|DMD_uc004dcz.2_Missense_Mutation_p.A1939S|DMD_uc004dcy.1_Missense_Mutation_p.A2058S|DMD_uc004ddb.1_Missense_Mutation_p.A2054S|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2062	Spectrin 14.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTGCAATGCTGCTGTCTTC	0.368		NA											10	27					1.09e-07	1.11e-07	1	0
FAM47A	158724	broad.mit.edu	37	X	34148023	34148023	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34148023A>G	uc004ddg.2	-	1	2406	c.2373T>C	c.(2371-2373)GAT>GAC	p.D791D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	791										ovary(4)|central_nervous_system(1)	5						AAACTGCCTAATCTTCTTCCG	0.383		NA											17	7					0	0	0	0
FAM47B	170062	broad.mit.edu	37	X	34961441	34961441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:34961441C>T	uc004ddi.1	+	1	511	c.493C>T	c.(493-495)CGT>TGT	p.R165C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	165										ovary(3)|breast(1)	4						CGCTTGGGCTCGTTGTGAGGC	0.597		NA											17	24					0	0	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821010	35821010	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:35821010G>A	uc010ngt.1	+	2	976	c.697G>A	c.(697-699)GGA>AGA	p.G233R		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	233	MAGE.									lung(3)|ovary(2)|breast(1)|skin(1)	7						GAATTTGACGGGAGTATATTC	0.498		NA											13	12					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41077795	41077795	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41077795C>T	uc004dfb.2	+	37	7013	c.6380C>T	c.(6379-6381)TCC>TTC	p.S2127F	USP9X_uc004dfc.2_Missense_Mutation_p.S2127F	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2127					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GCACATTTTTCCTTGCAAGAT	0.413		NA											26	78					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41082519	41082519	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41082519T>A	uc004dfb.2	+	39	7248	c.6615T>A	c.(6613-6615)TTT>TTA	p.F2205L	USP9X_uc004dfc.2_Missense_Mutation_p.F2205L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2205					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CTGCTACTTTTATGCTTGTGT	0.418		NA											33	14					0	0	0	0
GPR34	2857	broad.mit.edu	37	X	41555478	41555478	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:41555478G>A	uc004dfp.3	+	3	876	c.592G>A	c.(592-594)GGG>AGG	p.G198R	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.G198R|GPR34_uc010nhg.2_Missense_Mutation_p.G198R|GPR34_uc004dfr.3_Missense_Mutation_p.G198R	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	198	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						TAAGAAAGGAGGGCATAATTC	0.343		NA											14	31					0	0	0	0
CFP	5199	broad.mit.edu	37	X	47486606	47486606	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:47486606G>A	uc004dig.3	-	5	826	c.700C>T	c.(700-702)CCT>TCT	p.P234S	CFP_uc004dih.2_Missense_Mutation_p.P234S|CFP_uc004dii.1_Missense_Mutation_p.P170S|CFP_uc010nhu.2_Missense_Mutation_p.P234S	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	234	TSP type-1 3.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						GGCTTCCCAGGAGGTTTCTGG	0.662		NA											8	7					0	0	0	0
SLC38A5	92745	broad.mit.edu	37	X	48318232	48318232	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:48318232G>A	uc010nid.2	-	15	1277	c.1099C>T	c.(1099-1101)CCA>TCA	p.P367S	SLC38A5_uc004djk.3_Missense_Mutation_p.P316S	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	367	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						GCCTTGCCTGGGAAAAGCAGC	0.577		NA											21	10					0	0	0	0
DGKK	139189	broad.mit.edu	37	X	50147114	50147114	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:50147114C>T	uc010njr.1	-	5	1071	c.1011G>A	c.(1009-1011)CGG>CGA	p.R337R		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	337	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					AGTGCTGGGTCCGGTGGCTGT	0.438		NA											15	5					0	0	0	0
MAGED1	9500	broad.mit.edu	37	X	51643373	51643373	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:51643373T>G	uc004dpm.2	+	11	2035	c.1940T>G	c.(1939-1941)GTG>GGG	p.V647G	MAGED1_uc004dpn.2_Missense_Mutation_p.V703G|MAGED1_uc004dpo.2_Missense_Mutation_p.V647G	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	647	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					AAGATGAAAGTGCTGAGATTC	0.512		NA								Multiple Myeloma(10;0.10)			7	19					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53588762	53588762	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:53588762C>T	uc004dsp.2	-	55	7864	c.7462G>A	c.(7462-7464)GAG>AAG	p.E2488K	HUWE1_uc004dsn.2_Missense_Mutation_p.E1312K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2488	Asp-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGATCATCCTCCCGGTCAAAG	0.458		NA											38	13					0	0	0	0
MAGED2	10916	broad.mit.edu	37	X	54837732	54837732	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:54837732C>T	uc004dtk.1	+	5	990	c.896C>T	c.(895-897)CCC>CTC	p.P299L	MAGED2_uc004dtl.1_Missense_Mutation_p.P299L|MAGED2_uc004dtm.1_Missense_Mutation_p.P214L|MAGED2_uc010nkc.1_Missense_Mutation_p.P299L|MAGED2_uc004dtn.1_Missense_Mutation_p.P299L|MAGED2_uc004dto.1_Missense_Mutation_p.P273L	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	299	MAGE.									ovary(2)|breast(1)	3						ACGAAGATTCCCATCAAGCGC	0.478		NA											16	37					0	0	0	0
FOXR2	139628	broad.mit.edu	37	X	55650779	55650779	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:55650779G>A	uc004duo.2	+	1	947	c.635G>A	c.(634-636)GGC>GAC	p.G212D		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	212	Fork-head.				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3						CCCCACTGTGGCCTCAGTGTG	0.493		NA											36	60					0	0	0	0
UPRT	139596	broad.mit.edu	37	X	74519598	74519598	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:74519598C>T	uc004ecb.1	+	5	720	c.591C>T	c.(589-591)GAC>GAT	p.D197D	UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.D197D|UPRT_uc004ece.1_Silent_p.D61D	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	197					nucleoside metabolic process	cytoplasm|nucleus					0						GTTTACGAGACTGCTGTCGAT	0.408		NA											46	12					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76890177	76890177	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:76890177C>T	uc004ecp.3	-	17	4949	c.4717G>A	c.(4717-4719)GAT>AAT	p.D1573N	ATRX_uc004ecq.3_Missense_Mutation_p.D1535N|ATRX_uc004eco.3_Missense_Mutation_p.D1358N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1573					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CAGCAGCAATCCCACATAAAC	0.363		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						207	55					0	0	0	0
KLHL4	56062	broad.mit.edu	37	X	86773151	86773151	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86773151G>A	uc004efb.2	+	1	437	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	KLHL4_uc004efa.2_Silent_p.Q85Q	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	85						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTGCCCATCAGAGAGCCGTTC	0.453		NA											8	46					0	0	0	0
KLHL4	56062	broad.mit.edu	37	X	86873069	86873069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:86873069C>T	uc004efb.2	+	4	1044	c.862C>T	c.(862-864)CGA>TGA	p.R288*	KLHL4_uc004efa.2_Nonsense_Mutation_p.R288*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTTAGGGATTCGATCATTTGG	0.418		NA											10	42					0	0	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177627	89177627	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:89177627G>T	uc004efe.2	+	2	592	c.543G>T	c.(541-543)CAG>CAT	p.Q181H		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCCCTAGCCAGAAGCTCACCG	0.562		NA											5	42					5.18e-06	5.27e-06	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132697	91132697	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91132697G>A	uc004efk.1	+	2	2303	c.1458G>A	c.(1456-1458)ACG>ACA	p.T486T	PCDH11X_uc004efl.1_Silent_p.T486T|PCDH11X_uc004efo.1_Silent_p.T486T|PCDH11X_uc010nmv.1_Silent_p.T486T|PCDH11X_uc004efm.1_Silent_p.T486T|PCDH11X_uc004efn.1_Silent_p.T486T|PCDH11X_uc004efh.1_Silent_p.T486T|PCDH11X_uc004efj.1_Silent_p.T486T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	486	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TCCAGTTGACGAAAGTAAGTG	0.443		NA											70	22					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642907	91642908	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:91642907_91642908GG>AA	uc004efk.1	+	5	4163_4164	c.3318_3319GG>AA	c.(3316-3321)GGGGAT>GGAAAT	p.D1107N	PCDH11X_uc004efl.1_Missense_Mutation_p.D1097N|PCDH11X_uc004efo.1_Missense_Mutation_p.D1070N|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.D1107N|PCDH11X_uc004efn.1_Missense_Mutation_p.D1097N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1107	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GCACTGAAGGGGATGGCAACTC	0.485		NA											33	10					0	0	0	0
DIAPH2	1730	broad.mit.edu	37	X	96369956	96369956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:96369956C>T	uc004efu.3	+	21	2977	c.2581C>T	c.(2581-2583)CTT>TTT	p.L861F	DIAPH2_uc004eft.3_Missense_Mutation_p.L861F	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	861	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GATCAACTTCCTTTGTAAGGT	0.318		NA											17	24					0	0	0	0
SRPX2	27286	broad.mit.edu	37	X	99920267	99920267	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:99920267C>T	uc004egb.2	+	6	1040	c.560C>T	c.(559-561)CCC>CTC	p.P187L		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	187	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						ATCCGCTGTCCCCACTCACGT	0.527		NA											6	15					0	0	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910958	101910958	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:101910958C>T	uc004ejj.3	+	5	2918	c.2117C>T	c.(2116-2118)TCG>TTG	p.S706L	GPRASP1_uc004eji.3_Missense_Mutation_p.S706L|GPRASP1_uc010nod.2_Missense_Mutation_p.S706L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	706	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2						ATTGTCAATTCGTGGTTCTGG	0.473		NA											49	91					0	0	0	0
TSC22D3	1831	broad.mit.edu	37	X	106957810	106957811	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:106957810_106957811GG>AA	uc004eng.2	-	3	593_594	c.343_344CC>TT	c.(343-345)CCT>TTT	p.P115F	TSC22D3_uc004enf.2_Missense_Mutation_p.P58F|TSC22D3_uc004enh.2_Missense_Mutation_p.P181F|TSC22D3_uc004eni.2_Missense_Mutation_p.P181F|TSC22D3_uc004enj.2_Missense_Mutation_p.P181F	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	115							sequence-specific DNA binding transcription factor activity				0						TGGCTCTTCAGGGCTCAGACAG	0.594		NA											101	20					0	0	0	0
AMOT	154796	broad.mit.edu	37	X	112021852	112021852	+	Silent	SNP	A	A	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:112021852A>G	uc004epr.2	-	11	3198	c.3198T>C	c.(3196-3198)ACT>ACC	p.T1066T	AMOT_uc004eps.2_Silent_p.T657T	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	1066					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TCTGAATGGGAGTTTTTCTTT	0.403		NA											70	241					0	0	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960306	117960306	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:117960306G>A	uc004equ.2	+	4	1572	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						GAGTGACAAGGCCCAGGTTTT	0.498		NA											17	75					0	0	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513343	119513343	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:119513343C>T	uc004esr.2	+	8	1012	c.928C>T	c.(928-930)CCC>TCC	p.P310S	ATP1B4_uc004esq.2_Missense_Mutation_p.P306S|ATP1B4_uc011mtx.1_Missense_Mutation_p.P275S|ATP1B4_uc011mty.1_Missense_Mutation_p.P267S	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	310	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						CTACACATCCCCCTTGGTGGC	0.473		NA											67	139					0	0	0	0
GLUD2	2747	broad.mit.edu	37	X	120181905	120181905	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:120181905C>T	uc004eto.2	+	1	444	c.367C>T	c.(367-369)CGG>TGG	p.R123W		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	123					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCCCCATCCGGCGCGACGA	0.642		NA											26	28					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123554341	123554341	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:123554341C>T	uc004euj.2	-	24	4845	c.4781G>A	c.(4780-4782)GGC>GAC	p.G1594D	ODZ1_uc011muj.1_Missense_Mutation_p.G1600D|ODZ1_uc010nqy.2_Missense_Mutation_p.G1601D	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1594	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CGGCATTCCGCCTGCATCACG	0.493		NA											9	39					0	0	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:127185831G>A	uc004eum.2	-	1	552	c.355C>T	c.(355-357)CGA>TGA	p.R119*		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						AGCTTTTCTCGAATTTCCCTA	0.493		NA											251	72					0	0	0	0
SASH3	54440	broad.mit.edu	37	X	128926347	128926347	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:128926347G>A	uc011mun.1	+	5	668	c.486G>A	c.(484-486)GGG>GGA	p.G162G	SASH3_uc004euu.2_Silent_p.G162G|SASH3_uc011muo.1_Silent_p.G79G	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	162										ovary(2)|pancreas(1)	3						GCAGCTTCGGGGAGGAACCAC	0.627		NA											29	102					0	0	0	0
GPR119	139760	broad.mit.edu	37	X	129519167	129519167	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:129519167G>A	uc011muv.1	-	1	255	c.255C>T	c.(253-255)GTC>GTT	p.V85V		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	85	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2						CGGAGGAAGTGACAAATGCCA	0.567		NA											25	147					0	0	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217753	130217753	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130217753T>G	uc004evz.2	+	4	710	c.365T>G	c.(364-366)GTG>GGG	p.V122G	ARHGAP36_uc004ewa.2_Missense_Mutation_p.V110G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.V91G|ARHGAP36_uc004ewc.2_5'UTR	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	122					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3						GAGGTCCTGGTGAACGAGTTT	0.552		NA											115	75					0	0	0	0
IGSF1	3547	broad.mit.edu	37	X	130411004	130411004	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130411004C>T	uc004ewd.2	-	14	2755	c.2517G>A	c.(2515-2517)GTG>GTA	p.V839V	IGSF1_uc004ewe.3_Silent_p.V833V|IGSF1_uc004ewf.2_Silent_p.V819V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	839	Extracellular (Potential).|Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CACCAATGCCCACCGAAATGA	0.502		NA											71	284					0	0	0	0
IGSF1	3547	broad.mit.edu	37	X	130413126	130413126	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:130413126C>T	uc004ewd.2	-	11	1979	c.1741G>A	c.(1741-1743)GAA>AAA	p.E581K	IGSF1_uc004ewe.3_Missense_Mutation_p.E575K|IGSF1_uc004ewf.2_Missense_Mutation_p.E561K	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	581	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CCAGTCTCTTCTATCAATACC	0.582		NA											81	103					0	0	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795189	142795189	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:142795189C>T	uc004fbz.2	-	2	1243	c.489G>A	c.(487-489)GAG>GAA	p.E163E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	163										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTTCGTCCTCCTGTGAAG	0.502		NA											82	428					0	0	0	0
GABRQ	55879	broad.mit.edu	37	X	151821298	151821298	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:151821298C>T	uc004ffp.1	+	9	1473	c.1453C>T	c.(1453-1455)CGT>TGT	p.R485C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	485						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AATCCGCAACCGTGTCGAAGC	0.557		NA											24	162					0	0	0	0
ATP2B3	492	broad.mit.edu	37	X	152806879	152806879	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152806879C>T	uc004fht.1	+	2	397	c.271C>T	c.(271-273)CCC>TCC	p.P91S	ATP2B3_uc004fhs.1_Missense_Mutation_p.P91S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	91	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCATCCCCCCAAAGCA	0.622		NA											14	30					0	0	0	0
ATP2B3	492	broad.mit.edu	37	X	152807134	152807134	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152807134G>T	uc004fht.1	+	3	540	c.414G>T	c.(412-414)GGG>GGT	p.G138G	ATP2B3_uc004fhs.1_Silent_p.G138G	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	138	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617		NA											49	19					1.83e-24	1.9e-24	1	0
PNCK	139728	broad.mit.edu	37	X	152938472	152938472	+	Silent	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:152938472C>T	uc011myu.1	-	2	495	c.309G>A	c.(307-309)AGG>AGA	p.R103R	PNCK_uc011myt.1_Silent_p.R37R|PNCK_uc004fia.2_Silent_p.R32R|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Silent_p.R103R|PNCK_uc011myv.1_5'UTR|PNCK_uc011myw.1_5'UTR	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	20	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					acGAGCCGAGCCTCTCGCGGA	0.343		NA											4	13					0	0	0	0
RENBP	5973	broad.mit.edu	37	X	153208459	153208459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153208459G>A	uc004fjo.1	-	6	705	c.535C>T	c.(535-537)CAG>TAG	p.Q179*	RENBP_uc011mzh.1_Nonsense_Mutation_p.Q179*	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	179					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	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)				N-Acetyl-D-glucosamine(DB00141)	CCCTGGAGCTGGGGCCGGCCC	0.692		NA											10	36					0	0	0	0
HCFC1	3054	broad.mit.edu	37	X	153225815	153225815	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153225815G>A	uc004fjp.2	-	7	1483	c.955C>T	c.(955-957)CCC>TCC	p.P319S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	319				P->S: Eliminates VIC formation and association with VP16. Unable to rescue proliferation in temperature-sensitive arrested cells.	cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCACGGGGGATGTTGTCC	0.617		NA											9	11					0	0	0	0
TKTL1	8277	broad.mit.edu	37	X	153524312	153524312	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153524312C>T	uc004fkg.2	+	1	286	c.100C>T	c.(100-102)CAT>TAT	p.H34Y	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.H34Y|TKTL1_uc011mzm.1_Missense_Mutation_p.H34Y	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	34					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGCGAATCCATTCCATCAG	0.622		NA											21	112					0	0	0	0
TKTL1	8277	broad.mit.edu	37	X	153539193	153539193	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153539193G>A	uc004fkg.2	+	4	543	c.357G>A	c.(355-357)CGG>CGA	p.R119R	TKTL1_uc011mzl.1_Silent_p.R113R|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.R63R	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	119					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGCTACCGGGTGTTCTGCC	0.527		NA											68	14					0	0	0	0
FLNA	2316	broad.mit.edu	37	X	153589715	153589715	+	Silent	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153589715G>A	uc004fkk.2	-	21	3417	c.3168C>T	c.(3166-3168)CCC>CCT	p.P1056P	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.P1056P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1056	Filamin 8.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGGAAAGGGGCTGCCAG	0.632		NA											44	22					0	0	0	0
FLNA	2316	broad.mit.edu	37	X	153590083	153590083	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153590083G>A	uc004fkk.2	-	20	3148	c.2899C>T	c.(2899-2901)CCA>TCA	p.P967S	FLNA_uc010nuu.1_Missense_Mutation_p.P967S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	967	Filamin 8.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCAGGCTTGGAGATACTGCC	0.562		NA											13	76					0	0	0	0
ATP6AP1	537	broad.mit.edu	37	X	153660716	153660716	+	Silent	SNP	C	C	T	rs142472086		TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrX:153660716C>T	uc004flf.1	+	4	529	c.468C>T	c.(466-468)CCC>CCT	p.P156P	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.P116P	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	156					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAGCCCCTTGCATGTGG	0.647		NA											3	27					0	0	0	0
KDM5D	8284	broad.mit.edu	37	Y	21869120	21869120	+	Silent	SNP	G	G	T			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chrY:21869120G>T	uc004fug.2	-	24	4200	c.3912C>A	c.(3910-3912)GCC>GCA	p.A1304A	KDM5D_uc011naz.1_Silent_p.A1335A|KDM5D_uc010nwy.2_Silent_p.A1247A|KDM5D_uc004fuf.2_Silent_p.A479A	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	1304					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)	GTCTGGGTTTGGCCTGTAGCT	0.557		NA											3	3					6.4e-05	6.5e-05	1	0
TMEM51	55092	broad.mit.edu	37	1	15541602	15541603	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr1:15541602_15541603delGC	uc001avw.3	+	3	538_539	c.19_20delGC	c.(19-21)GCCfs	p.A7fs	TMEM51_uc010obk.1_Frame_Shift_Del_p.A7fs|TMEM51_uc001avz.2_Frame_Shift_Del_p.A7fs|TMEM51_uc001avy.2_Frame_Shift_Del_p.A7fs|TMEM51_uc001avx.2_Frame_Shift_Del_p.A7fs	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	7						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCAGTCCAAGGCCAATGGCTCG	0.569		NA											21	60	---	---	---	---	NA	NA	NA	NA
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr11:123777441_123777442insT	uc010saa.1	+	1	303_304	c.303_304insT	c.(301-306)CTGTTTfs	p.L101fs		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	101_102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436		NA											9	362	---	---	---	---	NA	NA	NA	NA
ANKS1B	56899	broad.mit.edu	37	12	99478745	99478745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr12:99478745delC	uc001tge.1	-	16	3000	c.2583delG	c.(2581-2583)GGGfs	p.G861fs	ANKS1B_uc001tgf.1_Frame_Shift_Del_p.G437fs|ANKS1B_uc001tgk.2_Frame_Shift_Del_p.G158fs|ANKS1B_uc001tgd.1_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgi.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc009ztr.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgj.2_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgg.3_Frame_Shift_Del_p.G30fs|ANKS1B_uc010svg.1_Frame_Shift_Del_p.G56fs|ANKS1B_uc009zts.1_Frame_Shift_Del_p.G87fs|ANKS1B_uc001tgm.1_Frame_Shift_Del_p.G87fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	861	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTGTCTGTGCCCAGAATTAA	0.388		NA											8	35	---	---	---	---	NA	NA	NA	NA
SPG11	80208	broad.mit.edu	37	15	44918568	44918568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:44918568delC	uc001ztx.2	-	11	2236	c.2205delG	c.(2203-2205)AAGfs	p.K735fs	SPG11_uc010ueh.1_Frame_Shift_Del_p.K735fs|SPG11_uc010uei.1_Frame_Shift_Del_p.K735fs|SPG11_uc001zua.1_Frame_Shift_Del_p.K735fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	735	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTATATTGTTCTTTTTTAAAT	0.313		NA											7	202	---	---	---	---	NA	NA	NA	NA
MNS1	55329	broad.mit.edu	37	15	56756290	56756291	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:56756290_56756291delGC	uc002adr.2	-	2	323_324	c.158_159delGC	c.(157-159)CGCfs	p.R53fs	MNS1_uc010bfo.2_5'UTR	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	53	Potential.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GAAATTGCTTGCGCTGAACACG	0.327		NA											83	112	---	---	---	---	NA	NA	NA	NA
TIPIN	54962	broad.mit.edu	37	15	66645208	66645209	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr15:66645208_66645209delGA	uc002apr.2	-	2	163_164	c.77_78delTC	c.(76-78)TTCfs	p.F26fs	TIPIN_uc010ujn.1_5'Flank|TIPIN_uc010ujo.1_5'UTR	NM_017858	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	26					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			ovary(1)	1						CTGGAGGTGGGAAAGGAGGAAA	0.411		NA											42	72	---	---	---	---	NA	NA	NA	NA
KRT39	390792	broad.mit.edu	37	17	39114919	39114933	+	In_Frame_Del	DEL	ATCCTTAATCTCCTT	ATCCTTAATCTCCTT	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr17:39114919_39114933delATCCTTAATCTCCTT	uc002hvo.1	-	7	1432_1446	c.1396_1410delAAGGAGATTAAGGAT	c.(1396-1410)AAGGAGATTAAGGATdel	p.KEIKD466del	KRT39_uc010wfm.1_In_Frame_Del_p.KEIKD199del	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	466_470	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				TGACCTTCCCATCCTTAATCTCCTTGGTGATGGTG	0.498		NA											40	98	---	---	---	---	NA	NA	NA	NA
MYO5B	4645	broad.mit.edu	37	18	47376030	47376030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr18:47376030delC	uc002leb.2	-	32	4510	c.4222delG	c.(4222-4224)GACfs	p.D1408fs	MYO5B_uc002ldz.2_5'UTR|MYO5B_uc002lea.2_Frame_Shift_Del_p.D523fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1408	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TCTTTAAGGTCCTGGAAGCAG	0.507		NA											28	114	---	---	---	---	NA	NA	NA	NA
TRIP12	9320	broad.mit.edu	37	2	230643188	230643198	+	Frame_Shift_Del	DEL	TAAGAAGCGAA	TAAGAAGCGAA	-			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr2:230643188_230643198delTAAGAAGCGAA	uc002vpw.1	-	35	5199_5209	c.5090_5100delTTCGCTTCTTA	c.(5089-5100)TTTCGCTTCTTAfs	p.F1697fs	TRIP12_uc002vpx.1_Frame_Shift_Del_p.F1745fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.F1427fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1697_1700					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAATTTTCCTAAGAAGCGAAACTTCATCTT	0.427		NA											12	115	---	---	---	---	NA	NA	NA	NA
PTPRZ1	5803	broad.mit.edu	37	7	121695040	121695041	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-D6-6516-01A-11D-1870-08	TCGA-D6-6516-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5ab94b24-1a1f-4df7-a5c6-b1dce8ee9be5	f4ce50e1-fd2a-46cc-bb02-fd145d98ddab	g.chr7:121695040_121695041insAT	uc003vjy.2	+	27	6822_6823	c.6427_6428insAT	c.(6427-6429)AATfs	p.N2143fs	PTPRZ1_uc003vjz.2_Frame_Shift_Ins_p.N1276fs|PTPRZ1_uc011knt.1_Frame_Shift_Ins_p.N733fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2143	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.C2143F(1)		ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGAGCCTATAAATTGTGAGAGC	0.332		NA											42	103	---	---	---	---	NA	NA	NA	NA